WormBase Tree Display for Variation: WBVar00088070
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| WBVar00088070 | Evidence | Paper_evidence | WBPaper00024249 | ||||||
|---|---|---|---|---|---|---|---|---|---|
| Name | Public_name | jf61 | |||||||
| Other_name | K02B12.8b.1:c.60_86del | ||||||||
| CE43850:p.Ile20_Thr29delinsMet | |||||||||
| K02B12.8a.1:c.60_86del | |||||||||
| CE34201:p.Ile20_Thr29delinsMet | |||||||||
| HGVSg | CHROMOSOME_I:g.8531235_8531261del | ||||||||
| Sequence_details | SMap | S_parent | Sequence | K02B12 | |||||
| Flanking_sequences | caaccgaaaaccaccggatggattcttcat | gaaatgcgcgaaagcaggtacgaaaattag | |||||||
| Mapping_target | K02B12 | ||||||||
| Type_of_mutation | Deletion | ctcttcatgttttcacattttttgtac | Paper_evidence | WBPaper00024249 | |||||
| SeqStatus | Sequenced | ||||||||
| Variation_type | Allele | ||||||||
| Origin | Species | Caenorhabditis elegans | |||||||
| Strain | WBStrain00035458 | ||||||||
| Laboratory | UV | ||||||||
| Status | Live | ||||||||
| Affects | Gene | WBGene00006976 | |||||||
| Transcript | K02B12.8b.1 | VEP_consequence | inframe_deletion | ||||||
| VEP_impact | MODERATE | ||||||||
| HGVSc | K02B12.8b.1:c.60_86del | ||||||||
| HGVSp | CE43850:p.Ile20_Thr29delinsMet | ||||||||
| cDNA_position | 82-108 | ||||||||
| CDS_position | 60-86 | ||||||||
| Protein_position | 20-29 | ||||||||
| Exon_number | 2/10 | ||||||||
| Codon_change | atCTCTTCATGTTTTCACATTTTTTGTACg/atg | ||||||||
| Amino_acid_change | ISSCFHIFCT/M | ||||||||
| K02B12.8a.1 | VEP_consequence | inframe_deletion | |||||||
| VEP_impact | MODERATE | ||||||||
| HGVSc | K02B12.8a.1:c.60_86del | ||||||||
| HGVSp | CE34201:p.Ile20_Thr29delinsMet | ||||||||
| cDNA_position | 76-102 | ||||||||
| CDS_position | 60-86 | ||||||||
| Protein_position | 20-29 | ||||||||
| Exon_number | 2/10 | ||||||||
| Codon_change | atCTCTTCATGTTTTCACATTTTTTGTACg/atg | ||||||||
| Amino_acid_change | ISSCFHIFCT/M | ||||||||
| Isolation | Mutagen | biolistic transformation | |||||||
| Reverse_genetics | homologous targeting | ||||||||
| Genetics | Interpolated_map_position | I | 2.91189 | ||||||
| Mapping_data | In_multi_point | 5041 | |||||||
| Description | Phenotype | WBPhenotype:0000050 | Paper_evidence | WBPaper00032296 | |||||
| Curator_confirmed | WBPerson712 | ||||||||
| Remark | Animals produced only 1% viable progeny at all temperatures assayed; however, progeny expressing integrated ZHP-3-GFP showed temperature sensitive lethality: embryos were 42% viable at 15C, 12.6% viable at 20C and 2.3% viable at 25C. | Paper_evidence | WBPaper00032296 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Phenotype_assay | Temperature | 15, 20, 25 | Paper_evidence | WBPaper00032296 | |||||
| Curator_confirmed | WBPerson712 | ||||||||
| Genotype | Ppie-1::zhp-3::gfp | Paper_evidence | WBPaper00032296 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| WBPhenotype:0000052 | Paper_evidence | WBPaper00024249 | |||||||
| WBPaper00053811 | |||||||||
| WBPaper00032296 | |||||||||
| Curator_confirmed | WBPerson48 | ||||||||
| WBPerson136 | |||||||||
| Remark | null allele (EMS) | Paper_evidence | WBPaper00053811 | ||||||
| WBPaper00024249 | |||||||||
| WBPaper00032296 | |||||||||
| Curator_confirmed | WBPerson136 | ||||||||
| Penetrance | High | Paper_evidence | WBPaper00024249 | ||||||
| Curator_confirmed | WBPerson48 | ||||||||
| Complete | 100% | Paper_evidence | WBPaper00053811 | ||||||
| WBPaper00024249 | |||||||||
| WBPaper00032296 | |||||||||
| Curator_confirmed | WBPerson136 | ||||||||
| Range | 98 | 98 | Paper_evidence | WBPaper00024249 | |||||
| Curator_confirmed | WBPerson48 | ||||||||
| Recessive | Paper_evidence | WBPaper00053811 | |||||||
| WBPaper00024249 | |||||||||
| WBPaper00032296 | |||||||||
| Curator_confirmed | WBPerson136 | ||||||||
| Variation_effect | Null | Paper_evidence | WBPaper00053811 | ||||||
| WBPaper00024249 | |||||||||
| WBPaper00032296 | |||||||||
| Curator_confirmed | WBPerson136 | ||||||||
| EQ_annotations | Anatomy_term | WBbt:0005784 | PATO:0000460 | Paper_evidence | WBPaper00053811 | ||||
| WBPaper00024249 | |||||||||
| WBPaper00032296 | |||||||||
| Curator_confirmed | WBPerson136 | ||||||||
| Life_stage | WBls:0000041 | PATO:0000460 | Paper_evidence | WBPaper00053811 | |||||
| WBPaper00024249 | |||||||||
| WBPaper00032296 | |||||||||
| Curator_confirmed | WBPerson136 | ||||||||
| GO_term | GO:0000003 | PATO:0000460 | Paper_evidence | WBPaper00053811 | |||||
| WBPaper00024249 | |||||||||
| WBPaper00032296 | |||||||||
| Curator_confirmed | WBPerson136 | ||||||||
| GO:0035825 | PATO:0000460 | Paper_evidence | WBPaper00053811 | ||||||
| WBPaper00024249 | |||||||||
| WBPaper00032296 | |||||||||
| Curator_confirmed | WBPerson136 | ||||||||
| Phenotype_assay | Control_strain | WBStrain00000001 | Paper_evidence | WBPaper00053811 | |||||
| WBPaper00024249 | |||||||||
| WBPaper00032296 | |||||||||
| Curator_confirmed | WBPerson136 | ||||||||
| Genotype | unc-119 (ed3) | Paper_evidence | WBPaper00024249 | ||||||
| Curator_confirmed | WBPerson48 | ||||||||
| WBPhenotype:0000436 | Paper_evidence | WBPaper00032296 | |||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Remark | In late pachytene of Ppie-1::zhp-3::gfp containing animals, greater than 5 ZHP-3::GFP foci per nucleus were observed at 15C and 20C, as assayed by staining with antibodies against GFP. At 20C, the transgene fusion was distributed along synaptonemal complexes. | Paper_evidence | WBPaper00032296 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Phenotype_assay | Genotype | Ppie-1::zhp-3::gfp | Paper_evidence | WBPaper00032296 | |||||
| Curator_confirmed | WBPerson712 | ||||||||
| WBPhenotype:0000742 | Paper_evidence | WBPaper00032296 | |||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Remark | Frequencies of recombination between dpy-3 unc-6 (X) was significantly reduced compared to wild type. Autosomal recombination was not significantly different from wild-type frequencies. | Paper_evidence | WBPaper00032296 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Temperature_sensitive | Heat_sensitive | Paper_evidence | WBPaper00032296 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Phenotype_assay | Temperature | 15, 20 | Paper_evidence | WBPaper00032296 | |||||
| Curator_confirmed | WBPerson712 | ||||||||
| Genotype | Ppie-1::zhp-3::gfp | Paper_evidence | WBPaper00032296 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| WBPhenotype:0001175 | Paper_evidence | WBPaper00032296 | |||||||
| WBPaper00053811 | |||||||||
| WBPaper00024249 | |||||||||
| Curator_confirmed | WBPerson712 | ||||||||
| WBPerson136 | |||||||||
| Remark | Animals produced a significant % of male progeny at all temperatures tested. Animals containing the Ppie-1::zhp-3::GFP transgene show increased % of male progeny at 25C compared to 20C. | Paper_evidence | WBPaper00032296 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| null allele (EMS) | Paper_evidence | WBPaper00053811 | |||||||
| WBPaper00024249 | |||||||||
| WBPaper00032296 | |||||||||
| Curator_confirmed | WBPerson136 | ||||||||
| Penetrance | Complete | 100% | Paper_evidence | WBPaper00053811 | |||||
| WBPaper00024249 | |||||||||
| WBPaper00032296 | |||||||||
| Curator_confirmed | WBPerson136 | ||||||||
| Recessive | Paper_evidence | WBPaper00053811 | |||||||
| WBPaper00024249 | |||||||||
| WBPaper00032296 | |||||||||
| Curator_confirmed | WBPerson136 | ||||||||
| Variation_effect | Null | Paper_evidence | WBPaper00053811 | ||||||
| WBPaper00024249 | |||||||||
| WBPaper00032296 | |||||||||
| Curator_confirmed | WBPerson136 | ||||||||
| EQ_annotations | Anatomy_term | WBbt:0005784 | PATO:0000460 | Paper_evidence | WBPaper00053811 | ||||
| WBPaper00024249 | |||||||||
| WBPaper00032296 | |||||||||
| Curator_confirmed | WBPerson136 | ||||||||
| Life_stage | WBls:0000041 | PATO:0000460 | Paper_evidence | WBPaper00053811 | |||||
| WBPaper00024249 | |||||||||
| WBPaper00032296 | |||||||||
| Curator_confirmed | WBPerson136 | ||||||||
| GO_term | GO:0000003 | PATO:0000460 | Paper_evidence | WBPaper00053811 | |||||
| WBPaper00024249 | |||||||||
| WBPaper00032296 | |||||||||
| Curator_confirmed | WBPerson136 | ||||||||
| GO:0035825 | PATO:0000460 | Paper_evidence | WBPaper00053811 | ||||||
| WBPaper00024249 | |||||||||
| WBPaper00032296 | |||||||||
| Curator_confirmed | WBPerson136 | ||||||||
| Phenotype_assay | Control_strain | WBStrain00000001 | Paper_evidence | WBPaper00053811 | |||||
| WBPaper00024249 | |||||||||
| WBPaper00032296 | |||||||||
| Curator_confirmed | WBPerson136 | ||||||||
| Temperature | 15, 20, 25 | Paper_evidence | WBPaper00032296 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Genotype | Ppie-1::zhp-3::gfp | Paper_evidence | WBPaper00032296 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| WBPhenotype:0001233 | Paper_evidence | WBPaper00060847 | |||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Remark | Recombination is lost in zhp-3 null mutants, resulting in 12 DAPI stained bodies corresponding to non-recombinant univalents (Janstch et al. 2004, Figure 1D). | Paper_evidence | WBPaper00060847 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| WBPhenotype:0001814 | Paper_evidence | WBPaper00032296 | |||||||
| WBPaper00053811 | |||||||||
| WBPaper00024249 | |||||||||
| WBPaper00060847 | |||||||||
| Curator_confirmed | WBPerson712 | ||||||||
| WBPerson136 | |||||||||
| Remark | Animals lack crossovers and twelve univalent chromosomes were detected in diakinesis. | Paper_evidence | WBPaper00032296 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| null allele (EMS) | Paper_evidence | WBPaper00053811 | |||||||
| WBPaper00024249 | |||||||||
| WBPaper00032296 | |||||||||
| Curator_confirmed | WBPerson136 | ||||||||
| Recombination is lost in zhp-3 null mutants, resulting in 12 DAPI stained bodies corresponding to non-recombinant univalents (Janstch et al. 2004, Figure 1D). | Paper_evidence | WBPaper00060847 | |||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Penetrance | Complete | 100% | Paper_evidence | WBPaper00053811 | |||||
| WBPaper00024249 | |||||||||
| WBPaper00032296 | |||||||||
| Curator_confirmed | WBPerson136 | ||||||||
| Recessive | Paper_evidence | WBPaper00053811 | |||||||
| WBPaper00024249 | |||||||||
| WBPaper00032296 | |||||||||
| Curator_confirmed | WBPerson136 | ||||||||
| Variation_effect | Null | Paper_evidence | WBPaper00053811 | ||||||
| WBPaper00024249 | |||||||||
| WBPaper00032296 | |||||||||
| Curator_confirmed | WBPerson136 | ||||||||
| EQ_annotations | Anatomy_term | WBbt:0005784 | PATO:0000460 | Paper_evidence | WBPaper00053811 | ||||
| WBPaper00024249 | |||||||||
| WBPaper00032296 | |||||||||
| Curator_confirmed | WBPerson136 | ||||||||
| Life_stage | WBls:0000041 | PATO:0000460 | Paper_evidence | WBPaper00053811 | |||||
| WBPaper00024249 | |||||||||
| WBPaper00032296 | |||||||||
| Curator_confirmed | WBPerson136 | ||||||||
| GO_term | GO:0000241 | PATO:0000460 | Paper_evidence | WBPaper00032296 | |||||
| Curator_confirmed | WBPerson712 | ||||||||
| GO:0035825 | PATO:0000460 | Paper_evidence | WBPaper00032296 | ||||||
| WBPaper00053811 | |||||||||
| WBPaper00024249 | |||||||||
| Curator_confirmed | WBPerson712 | ||||||||
| WBPerson136 | |||||||||
| GO:0000003 | PATO:0000460 | Paper_evidence | WBPaper00053811 | ||||||
| WBPaper00024249 | |||||||||
| WBPaper00032296 | |||||||||
| Curator_confirmed | WBPerson136 | ||||||||
| Temperature_sensitive | Heat_sensitive | Paper_evidence | WBPaper00032296 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Phenotype_assay | Control_strain | WBStrain00000001 | Paper_evidence | WBPaper00053811 | |||||
| WBPaper00024249 | |||||||||
| WBPaper00032296 | |||||||||
| Curator_confirmed | WBPerson136 | ||||||||
| Temperature | 15, 20 | Paper_evidence | WBPaper00032296 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Genotype | Ppie-1::zhp-3::gfp | Paper_evidence | WBPaper00032296 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| WBPhenotype:0001815 | Paper_evidence | WBPaper00032296 | |||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Remark | ZHP-3 does not become asymmetrically distributed along the synaptonemal complex in late pachytene. | Paper_evidence | WBPaper00032296 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Temperature_sensitive | Heat_sensitive | 25 | Paper_evidence | WBPaper00032296 | |||||
| Curator_confirmed | WBPerson712 | ||||||||
| Phenotype_assay | Genotype | Ppie-1::zhp-3::gfp | Paper_evidence | WBPaper00032296 | |||||
| Curator_confirmed | WBPerson712 | ||||||||
| WBPhenotype:0002012 | Paper_evidence | WBPaper00060847 | |||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Remark | HTP-3 and HTP-1 are lost on the long arm in zhp-3 null mutants (Figure 1E). | Paper_evidence | WBPaper00060847 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| WBPhenotype:0002013 | Paper_evidence | WBPaper00032296 | |||||||
| Curator_confirmed | WBPerson557 | ||||||||
| Remark | Animals lack crossovers and twelve univalent chromosomes were detected in diakinesis. | Paper_evidence | WBPaper00032296 | ||||||
| Curator_confirmed | WBPerson557 | ||||||||
| EQ_annotations | GO_term | GO:0000241 | PATO:0000460 | Paper_evidence | WBPaper00032296 | ||||
| Curator_confirmed | WBPerson557 | ||||||||
| GO:0035825 | PATO:0000460 | Paper_evidence | WBPaper00032296 | ||||||
| Curator_confirmed | WBPerson557 | ||||||||
| Temperature_sensitive | Heat_sensitive | Paper_evidence | WBPaper00032296 | ||||||
| Curator_confirmed | WBPerson557 | ||||||||
| Phenotype_assay | Temperature | 15, 20 | Paper_evidence | WBPaper00032296 | |||||
| Curator_confirmed | WBPerson557 | ||||||||
| Genotype | Ppie-1::zhp-3::gfp | Paper_evidence | WBPaper00032296 | ||||||
| Curator_confirmed | WBPerson557 | ||||||||
| Phenotype_not_observed | WBPhenotype:0001499 | Paper_evidence | WBPaper00060847 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Remark | We found that both single phosphorylation mutants and double phosphorylation site mutants had 100% viable progeny and 0.03%, 0.2%, and 0.1% male progeny respectively (Figure 1F), illustrating that mutation of these sites does not cause general defects in meiosis. | Paper_evidence | WBPaper00060847 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| WBPhenotype:0001814 | Paper_evidence | WBPaper00060847 | |||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Remark | We found that ZHP-3S308A, ZHP-3S366A, and ZHP-3S308A, S366A localized in distinct foci on chromosomes (Figure 1C), similar to wildtype ZHP-3, indicating that the single and double phosphorylation mutations do not affect ZHP-3's ability to localize to crossovers. In zhp-3S308A, zhp-3S366A, and zhp- 3S308A, S366A mutants, oocytes had an average of 6 DAPI bodies (Figure 1D). | Paper_evidence | WBPaper00060847 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| WBPhenotype:0002012 | Paper_evidence | WBPaper00060847 | |||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Remark | HTP-3 localizes to both the long and short arm and HTP-1 localizes to the long arm properly in zhp-3S308A, zhp-3S366A, and zhp-3S308A, S366A mutants (Figure 1E), indicating that bivalent morphology is unaffected in zhp-3 phosphorylation mutants. | Paper_evidence | WBPaper00060847 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Reference | WBPaper00024249 | ||||||||
| WBPaper00032296 | |||||||||
| WBPaper00053811 | |||||||||
| WBPaper00060847 | |||||||||
| Remark | Heterozygotes are WT and segregate WT and Uncs. 1/3 of the WT are zhp-3(jf61::unc-119+) homozygotes and these lay mostly dead eggs | Person_evidence | WBPerson1819 | ||||||
| Method | Deletion_allele |
