WormBase Tree Display for Variation: WBVar00088574
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| WBVar00088574 | Evidence | Paper_evidence | WBPaper00003977 | ||||||
|---|---|---|---|---|---|---|---|---|---|
| Name | Public_name | m86 | |||||||
| Other_name | CE02205:p.Arg88Ter | ||||||||
| F33H1.1e.1:c.262C>T | |||||||||
| CE43609:p.Arg111Ter | |||||||||
| F33H1.1c.1:c.214C>T | |||||||||
| F33H1.1a.1:c.688C>T | |||||||||
| F33H1.1b.1:c.763C>T | |||||||||
| CE17763:p.Arg230Ter | |||||||||
| CE01567:p.Arg72Ter | |||||||||
| F33H1.1d.1:c.331C>T | |||||||||
| CE28019:p.Arg255Ter | |||||||||
| HGVSg | CHROMOSOME_II:g.10160814G>A | ||||||||
| Sequence_details | SMap | S_parent | Sequence | F33H1 | |||||
| Flanking_sequences | gcagactcgatcaacttgccgaacaatcaa | gagcttcccccgcaacggtatgaataaaac | |||||||
| Mapping_target | F33H1 | ||||||||
| Type_of_mutation | Substitution | c | t | Paper_evidence | WBPaper00003977 | ||||
| SeqStatus | Sequenced | ||||||||
| Variation_type | Allele | ||||||||
| Origin | Species | Caenorhabditis elegans | |||||||
| Strain | WBStrain00006178 | ||||||||
| WBStrain00006236 | |||||||||
| WBStrain00006259 | |||||||||
| WBStrain00006383 | |||||||||
| WBStrain00022829 | |||||||||
| WBStrain00029254 | |||||||||
| WBStrain00052538 | |||||||||
| WBStrain00055951 | |||||||||
| WBStrain00055963 | |||||||||
| WBStrain00055964 | |||||||||
| WBStrain00055965 | |||||||||
| WBStrain00055966 | |||||||||
| WBStrain00055967 | |||||||||
| WBStrain00055968 | |||||||||
| WBStrain00055969 | |||||||||
| WBStrain00055970 | |||||||||
| WBStrain00055971 | |||||||||
| WBStrain00055972 | |||||||||
| WBStrain00055973 | |||||||||
| WBStrain00056000 | |||||||||
| WBStrain00056001 | |||||||||
| WBStrain00056002 | |||||||||
| WBStrain00056004 | |||||||||
| WBStrain00056005 | |||||||||
| WBStrain00056009 | |||||||||
| WBStrain00056013 | |||||||||
| WBStrain00056014 | |||||||||
| WBStrain00056027 | |||||||||
| WBStrain00056043 | |||||||||
| WBStrain00056055 | |||||||||
| WBStrain00056056 | |||||||||
| WBStrain00056059 | |||||||||
| WBStrain00056060 | |||||||||
| WBStrain00056062 | |||||||||
| Laboratory | DR | ||||||||
| JT | |||||||||
| NFB | |||||||||
| Status | Live | ||||||||
| Affects | Gene | WBGene00000914 | |||||||
| Transcript | F33H1.1c.1 | VEP_consequence | stop_gained | ||||||
| VEP_impact | HIGH | ||||||||
| HGVSc | F33H1.1c.1:c.214C>T | ||||||||
| HGVSp | CE01567:p.Arg72Ter | ||||||||
| cDNA_position | 380 | ||||||||
| CDS_position | 214 | ||||||||
| Protein_position | 72 | ||||||||
| Exon_number | 4/9 | ||||||||
| Codon_change | Cga/Tga | ||||||||
| Amino_acid_change | R/* | ||||||||
| F33H1.1a.1 | VEP_consequence | stop_gained | |||||||
| VEP_impact | HIGH | ||||||||
| HGVSc | F33H1.1a.1:c.688C>T | ||||||||
| HGVSp | CE17763:p.Arg230Ter | ||||||||
| cDNA_position | 713 | ||||||||
| CDS_position | 688 | ||||||||
| Protein_position | 230 | ||||||||
| Exon_number | 7/13 | ||||||||
| Codon_change | Cga/Tga | ||||||||
| Amino_acid_change | R/* | ||||||||
| F33H1.1b.1 | VEP_consequence | stop_gained | |||||||
| VEP_impact | HIGH | ||||||||
| HGVSc | F33H1.1b.1:c.763C>T | ||||||||
| HGVSp | CE28019:p.Arg255Ter | ||||||||
| cDNA_position | 787 | ||||||||
| CDS_position | 763 | ||||||||
| Protein_position | 255 | ||||||||
| Exon_number | 8/14 | ||||||||
| Codon_change | Cga/Tga | ||||||||
| Amino_acid_change | R/* | ||||||||
| F33H1.1e.1 | VEP_consequence | stop_gained | |||||||
| VEP_impact | HIGH | ||||||||
| HGVSc | F33H1.1e.1:c.262C>T | ||||||||
| HGVSp | CE02205:p.Arg88Ter | ||||||||
| cDNA_position | 262 | ||||||||
| CDS_position | 262 | ||||||||
| Protein_position | 88 | ||||||||
| Exon_number | 3/8 | ||||||||
| Codon_change | Cga/Tga | ||||||||
| Amino_acid_change | R/* | ||||||||
| F33H1.1d.1 | VEP_consequence | stop_gained | |||||||
| VEP_impact | HIGH | ||||||||
| HGVSc | F33H1.1d.1:c.331C>T | ||||||||
| HGVSp | CE43609:p.Arg111Ter | ||||||||
| cDNA_position | 405 | ||||||||
| CDS_position | 331 | ||||||||
| Protein_position | 111 | ||||||||
| Exon_number | 5/11 | ||||||||
| Codon_change | Cga/Tga | ||||||||
| Amino_acid_change | R/* | ||||||||
| Interactor | WBInteraction000500067 | ||||||||
| WBInteraction000501337 | |||||||||
| WBInteraction000501338 | |||||||||
| WBInteraction000501631 | |||||||||
| WBInteraction000501852 | |||||||||
| WBInteraction000501880 | |||||||||
| WBInteraction000502038 | |||||||||
| WBInteraction000502052 | |||||||||
| WBInteraction000502053 | |||||||||
| WBInteraction000502054 | |||||||||
| WBInteraction000502055 | |||||||||
| WBInteraction000502056 | |||||||||
| WBInteraction000502057 | |||||||||
| WBInteraction000502058 | |||||||||
| WBInteraction000502059 | |||||||||
| WBInteraction000502131 | |||||||||
| WBInteraction000502419 | |||||||||
| WBInteraction000502421 | |||||||||
| WBInteraction000502610 | |||||||||
| WBInteraction000502912 | |||||||||
| WBInteraction000503479 | |||||||||
| WBInteraction000503480 | |||||||||
| WBInteraction000503538 | |||||||||
| WBInteraction000503539 | |||||||||
| WBInteraction000503540 | |||||||||
| WBInteraction000503806 | |||||||||
| WBInteraction000503807 | |||||||||
| WBInteraction000503808 | |||||||||
| WBInteraction000503809 | |||||||||
| WBInteraction000503810 | |||||||||
| WBInteraction000504827 | |||||||||
| WBInteraction000504953 | |||||||||
| WBInteraction000504954 | |||||||||
| WBInteraction000504955 | |||||||||
| WBInteraction000504956 | |||||||||
| WBInteraction000504957 | |||||||||
| WBInteraction000504958 | |||||||||
| WBInteraction000504959 | |||||||||
| WBInteraction000504960 | |||||||||
| WBInteraction000504961 | |||||||||
| WBInteraction000504962 | |||||||||
| WBInteraction000504963 | |||||||||
| WBInteraction000505104 | |||||||||
| WBInteraction000505123 | |||||||||
| WBInteraction000519830 | |||||||||
| WBInteraction000519831 | |||||||||
| WBInteraction000524548 | |||||||||
| WBInteraction000541732 | |||||||||
| WBInteraction000542217 | |||||||||
| WBInteraction000542218 | |||||||||
| WBInteraction000542219 | |||||||||
| WBInteraction000556041 | |||||||||
| WBInteraction000556042 | |||||||||
| WBInteraction000556043 | |||||||||
| Genetics | Interpolated_map_position | II | 2.13278 | ||||||
| Mapping_data | In_2_point | 444 | |||||||
| 769 | |||||||||
| 3381 | |||||||||
| In_multi_point | 338 | ||||||||
| 961 | |||||||||
| 1558 | |||||||||
| In_pos_neg_data | 4206 | ||||||||
| 4207 | |||||||||
| 4208 | |||||||||
| 4209 | |||||||||
| 4210 | |||||||||
| 4211 | |||||||||
| 4537 | |||||||||
| Description | Phenotype | WBPhenotype:0000012 | Paper_evidence | WBPaper00000932 | |||||
| WBPaper00002149 | |||||||||
| WBPaper00039866 | |||||||||
| WBPaper00004071 | |||||||||
| WBPaper00037652 | |||||||||
| WBPaper00003977 | |||||||||
| Curator_confirmed | WBPerson712 | ||||||||
| WBPerson641 | |||||||||
| Remark | Pers. comm. to authors from D. Riddle. | Paper_evidence | WBPaper00000932 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| daf-19 (m86) mutants display a highly penetrant dauer constitutive (Daf-c) phenotype at all temperatures. | Paper_evidence | WBPaper00039866 | |||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Constitutive dauer formation at 25C, reversible by shift to 15C. Easy to score (ES3) in L3. | Paper_evidence | WBPaper00004071 | |||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Table 1 | Paper_evidence | WBPaper00003977 | |||||||
| Curator_confirmed | WBPerson641 | ||||||||
| Temperature_sensitive | Heat_sensitive | 25 | Paper_evidence | WBPaper00000932 | |||||
| WBPaper00002149 | |||||||||
| WBPaper00004071 | |||||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Ease_of_scoring | ES3_Easy_to_score | Paper_evidence | WBPaper00004071 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| WBPhenotype:0000017 | Paper_evidence | WBPaper00032252 | |||||||
| Curator_confirmed | WBPerson641 | ||||||||
| Remark | Figure 5 | Paper_evidence | WBPaper00032252 | ||||||
| Curator_confirmed | WBPerson641 | ||||||||
| WBPhenotype:0000134 | Paper_evidence | WBPaper00050371 | |||||||
| WBPaper00003977 | |||||||||
| Curator_confirmed | WBPerson712 | ||||||||
| WBPerson641 | |||||||||
| Remark | "...we measured the expression change of the eY1H targets of DAF-19 by qRT-PCR in threefold embryos of daf-19(m86);daf-12(sa204) animals compared to daf-12(sa204) animals (the daf-12 mutation suppresses the dauer-constitutive phenotype of daf-19 mutants) (Senti & Swoboda, 2008). We confirmed that all previously reported DAF-19 targets are down regulated in daf-19 mutant animals (Fig 5B)."; "Values were normalized to the expression in the daf-12(sa204) strain..."; "We also detected significant downregulation for nine genes that were missed in the previous study (Phirke et al, 2011). Interestingly, these include three genes (F11E6.3, fbxb-69, and Y22D7AL.16) that do not harbor DAF-19 motifs in their promoters." | Paper_evidence | WBPaper00050371 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Table 3, Figure 5; concerns the genes che-2, osm-1, osm-6, xbx-1, which are all directly regulated by DAF-19; tested only for the m86 allele | Paper_evidence | WBPaper00003977 | |||||||
| Curator_confirmed | WBPerson641 | ||||||||
| Phenotype_assay | Genotype | daf-19(m86); daf-12(sa204) | Paper_evidence | WBPaper00050371 | |||||
| Curator_confirmed | WBPerson712 | ||||||||
| WBPhenotype:0000249 | Paper_evidence | WBPaper00004071 | |||||||
| Curator_confirmed | WBPerson712 | ||||||||
| WBPhenotype:0000255 | Paper_evidence | WBPaper00035071 | |||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Remark | Mutants lack all ciliated structures. This phenotype can be rescued by expression of daf-19c, the CSN-specific isoform of daf-19 through functional rescue in single sensory cilia (FRISSC), which can restore gene function in a cell-autonomous and cell-specific manner. | Paper_evidence | WBPaper00035071 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| WBPhenotype:0000306 | Paper_evidence | WBPaper00037652 | |||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Remark | The daf-19(m86) null allele abolishes osm-9 expression in PKD and all core neurons. | Paper_evidence | WBPaper00037652 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| WBPhenotype:0000310 | Paper_evidence | WBPaper00035071 | |||||||
| WBPaper00039866 | |||||||||
| WBPaper00004071 | |||||||||
| WBPaper00003977 | |||||||||
| Curator_confirmed | WBPerson712 | ||||||||
| WBPerson641 | |||||||||
| Remark | Mutants lack all ciliated structures. This phenotype can be rescued by expression of daf-19c, the CSN-specific isoform of daf-19 through functional rescue in single sensory cilia (FRISSC), which can restore gene function in a cell-autonomous and cell-specific manner. | Paper_evidence | WBPaper00035071 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Cilia but not ciliary rootlets missing from sensory neurons. | Paper_evidence | WBPaper00004071 | |||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Table 2, Figure 1 | Paper_evidence | WBPaper00003977 | |||||||
| Curator_confirmed | WBPerson641 | ||||||||
| WBPhenotype:0000421 | Paper_evidence | WBPaper00032252 | |||||||
| Curator_confirmed | WBPerson641 | ||||||||
| Remark | Figure 5 | Paper_evidence | WBPaper00032252 | ||||||
| Curator_confirmed | WBPerson641 | ||||||||
| WBPhenotype:0000505 | Paper_evidence | WBPaper00002149 | |||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Remark | No FITC staining of ray sensilla. | Paper_evidence | WBPaper00002149 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| WBPhenotype:0000625 | Paper_evidence | WBPaper00032252 | |||||||
| Curator_confirmed | WBPerson641 | ||||||||
| Remark | down-regulation of synaptic vesicle proteins SNB-1, UNC-17, UNC-64 (Table 1) | Paper_evidence | WBPaper00032252 | ||||||
| Curator_confirmed | WBPerson641 | ||||||||
| WBPhenotype:0000843 | Paper_evidence | WBPaper00002149 | |||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Remark | Mating efficiency 0, no detected matings. | Paper_evidence | WBPaper00002149 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| EQ_annotations | Life_stage | WBls:0000056 | PATO:0000460 | Paper_evidence | WBPaper00002149 | ||||
| Curator_confirmed | WBPerson712 | ||||||||
| Phenotype_assay | Genotype | him-5(e1490) | Paper_evidence | WBPaper00002149 | |||||
| Curator_confirmed | WBPerson712 | ||||||||
| WBPhenotype:0000882 | Paper_evidence | WBPaper00003977 | |||||||
| Curator_confirmed | WBPerson641 | ||||||||
| Remark | Table 2, Figure 1; concerns neuron PQR - dendrites may be too long (low penetrance) | Paper_evidence | WBPaper00003977 | ||||||
| Curator_confirmed | WBPerson641 | ||||||||
| EQ_annotations | Anatomy_term | WBbt:0004096 | PATO:0000460 | Paper_evidence | WBPaper00003977 | ||||
| Curator_confirmed | WBPerson641 | ||||||||
| GO_term | GO:0030425 | PATO:0000460 | Paper_evidence | WBPaper00003977 | |||||
| Curator_confirmed | WBPerson641 | ||||||||
| WBPhenotype:0001084 | Paper_evidence | WBPaper00002149 | |||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Remark | Does not respond to dilute gradient of NaCl. | Paper_evidence | WBPaper00002149 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| WBPhenotype:0001434 | Paper_evidence | WBPaper00004071 | |||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Remark | defective chemotaxis | Paper_evidence | WBPaper00004071 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| WBPhenotype:0001639 | Paper_evidence | WBPaper00032252 | |||||||
| Curator_confirmed | WBPerson641 | ||||||||
| Remark | Figure 4 | Paper_evidence | WBPaper00032252 | ||||||
| Curator_confirmed | WBPerson641 | ||||||||
| WBPhenotype:0001765 | Paper_evidence | WBPaper00031936 | |||||||
| Curator_confirmed | WBPerson2021 | ||||||||
| Remark | Acute CO2 avoidance is reduced | Paper_evidence | WBPaper00031936 | ||||||
| Curator_confirmed | WBPerson2021 | ||||||||
| EQ_annotations | Life_stage | WBls:0000057 | PATO:0000460 | Paper_evidence | WBPaper00031936 | ||||
| Curator_confirmed | WBPerson2021 | ||||||||
| Phenotype_assay | Treatment | 10% CO2 | Paper_evidence | WBPaper00031936 | |||||
| Curator_confirmed | WBPerson2021 | ||||||||
| WBPhenotype:0001818 | Paper_evidence | WBPaper00035071 | |||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Remark | Mutants exhibited altered calcium transients in response to NaCl down-steps compared to control animals. | Paper_evidence | WBPaper00035071 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| WBPhenotype:0002053 | Paper_evidence | WBPaper00055368 | |||||||
| Curator_confirmed | WBPerson466 | ||||||||
| Remark | survive 10nM ivermectin | Paper_evidence | WBPaper00055368 | ||||||
| Curator_confirmed | WBPerson466 | ||||||||
| Affected_by | Molecule | WBMol:00002786 | Paper_evidence | WBPaper00055368 | |||||
| Curator_confirmed | WBPerson466 | ||||||||
| WBPhenotype:0002535 | Paper_evidence | WBPaper00000932 | |||||||
| WBPaper00037652 | |||||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Remark | Amphids and phasmids rarely if ever stain with FITC at permissive or non-permissive temperatures. | Paper_evidence | WBPaper00000932 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| EQ_annotations | Anatomy_term | WBbt:0005391 | PATO:0000460 | Paper_evidence | WBPaper00000932 | ||||
| Curator_confirmed | WBPerson712 | ||||||||
| WBbt:0005425 | PATO:0000460 | Paper_evidence | WBPaper00000932 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Phenotype_assay | Temperature | 15C, 25C | Paper_evidence | WBPaper00000932 | |||||
| Curator_confirmed | WBPerson712 | ||||||||
| Phenotype_not_observed | WBPhenotype:0000039 | Paper_evidence | WBPaper00002149 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Remark | Adult lifespan was not increased. Animals were allowed to progress through development at 15 degrees C. then shifted to 25.5 degrees C. to determine lifespan. | Paper_evidence | WBPaper00002149 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Phenotype_assay | Treatment | Animals were raised at 15C and placed at 25.5C as L4 larvae or young adults for the life span assay. | Paper_evidence | WBPaper00002149 | |||||
| Curator_confirmed | WBPerson712 | ||||||||
| Temperature | 25.5C | Paper_evidence | WBPaper00002149 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| WBPhenotype:0000315 | Paper_evidence | WBPaper00002149 | |||||||
| Curator_confirmed | WBPerson712 | ||||||||
| WBPhenotype:0000436 | Paper_evidence | WBPaper00035062 | |||||||
| Curator_confirmed | WBPerson2021 | ||||||||
| Remark | In daf-19(m86) mutants, HYLS-1 localization was unaffected | Paper_evidence | WBPaper00035062 | ||||||
| Curator_confirmed | WBPerson2021 | ||||||||
| WBPhenotype:0000478 | Paper_evidence | WBPaper00002149 | |||||||
| Curator_confirmed | WBPerson712 | ||||||||
| WBPhenotype:0000882 | Paper_evidence | WBPaper00003977 | |||||||
| Curator_confirmed | WBPerson641 | ||||||||
| Remark | Table 2, Figure1; concerns the microvilli at the dendritic tips of the thermosensory AFD neurons | Paper_evidence | WBPaper00003977 | ||||||
| Curator_confirmed | WBPerson641 | ||||||||
| EQ_annotations | Anatomy_term | WBbt:0005662 | PATO:0000460 | Paper_evidence | WBPaper00003977 | ||||
| Curator_confirmed | WBPerson641 | ||||||||
| GO_term | GO:0005902 | PATO:0000460 | Paper_evidence | WBPaper00003977 | |||||
| Curator_confirmed | WBPerson641 | ||||||||
| GO:0030425 | PATO:0000460 | Paper_evidence | WBPaper00003977 | ||||||
| Curator_confirmed | WBPerson641 | ||||||||
| WBPhenotype:0001530 | Paper_evidence | WBPaper00000932 | |||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Remark | CEP does not stain with FITC at permissive or non-permissive temperatures. | Paper_evidence | WBPaper00000932 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| EQ_annotations | Anatomy_term | WBbt:0005107 | PATO:0000460 | Paper_evidence | WBPaper00000932 | ||||
| Curator_confirmed | WBPerson712 | ||||||||
| Phenotype_assay | Temperature | 15C, 25C | Paper_evidence | WBPaper00000932 | |||||
| Curator_confirmed | WBPerson712 | ||||||||
| WBPhenotype:0001535 | Paper_evidence | WBPaper00002149 | |||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Remark | No FITC staining of ADE or PDE. | Paper_evidence | WBPaper00002149 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| WBPhenotype:0001660 | Paper_evidence | WBPaper00006052 | |||||||
| Curator_confirmed | WBPerson2021 | ||||||||
| Remark | No disruption of ASE asymmetry (as seen with lim-6 reporters) | Paper_evidence | WBPaper00006052 | ||||||
| Curator_confirmed | WBPerson2021 | ||||||||
| Phenotype_assay | Genotype | otIs114, otIs6 | Paper_evidence | WBPaper00006052 | |||||
| Curator_confirmed | WBPerson2021 | ||||||||
| Reference | WBPaper00011721 | ||||||||
| WBPaper00017206 | |||||||||
| WBPaper00039866 | |||||||||
| WBPaper00022085 | |||||||||
| WBPaper00022742 | |||||||||
| WBPaper00000932 | |||||||||
| WBPaper00014950 | |||||||||
| WBPaper00002149 | |||||||||
| WBPaper00035071 | |||||||||
| WBPaper00031936 | |||||||||
| WBPaper00029016 | |||||||||
| WBPaper00006052 | |||||||||
| WBPaper00003977 | |||||||||
| WBPaper00032252 | |||||||||
| WBPaper00037652 | |||||||||
| WBPaper00014661 | |||||||||
| WBPaper00035062 | |||||||||
| WBPaper00014968 | |||||||||
| WBPaper00050371 | |||||||||
| WBPaper00055368 | |||||||||
| WBPaper00061932 | |||||||||
| WBPaper00065298 | |||||||||
| WBPaper00065747 | |||||||||
| WBPaper00004071 | |||||||||
| Remark | |||||||||
| Method | Substitution_allele |
