WormBase Tree Display for Variation: WBVar00090149
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WBVar00090149 | Evidence | Paper_evidence | WBPaper00002518 | ||||||
---|---|---|---|---|---|---|---|---|---|
Name | Public_name | n1378 | |||||||
Other_name | CE17673:p.Gln569Ter | ||||||||
F15C11.1.1:c.1705C>T | |||||||||
HGVSg | CHROMOSOME_I:g.7047462C>T | ||||||||
Sequence_details | SMap | S_parent | Sequence | F15C11 | |||||
Flanking_sequences | ccaaaaaacgaaaatccactgcttgcaatg | aaaaaatgtgggcggagacagagccaccac | |||||||
Mapping_target | F15C11 | ||||||||
Type_of_mutation | Substitution | c | t | Paper_evidence | WBPaper00002518 | ||||
SeqStatus | Sequenced | ||||||||
Variation_type | Allele | ||||||||
Origin | Species | Caenorhabditis elegans | |||||||
Strain | WBStrain00027038 | ||||||||
WBStrain00027039 | |||||||||
WBStrain00027045 | |||||||||
WBStrain00027050 | |||||||||
WBStrain00027268 | |||||||||
WBStrain00027281 | |||||||||
WBStrain00027282 | |||||||||
WBStrain00027293 | |||||||||
Laboratory | MT | ||||||||
Status | Live | ||||||||
Affects | Gene | WBGene00004773 | |||||||
Transcript | F15C11.1.1 | VEP_consequence | stop_gained | ||||||
VEP_impact | HIGH | ||||||||
HGVSc | F15C11.1.1:c.1705C>T | ||||||||
HGVSp | CE17673:p.Gln569Ter | ||||||||
cDNA_position | 1713 | ||||||||
CDS_position | 1705 | ||||||||
Protein_position | 569 | ||||||||
Exon_number | 9/12 | ||||||||
Codon_change | Caa/Taa | ||||||||
Amino_acid_change | Q/* | ||||||||
Genetics | Interpolated_map_position | I | 1.66236 | ||||||
Mapping_data | In_multi_point | 1446 | |||||||
1447 | |||||||||
2089 | |||||||||
Description | Phenotype | WBPhenotype:0000006 | Paper_evidence | WBPaper00001105 | |||||
Curator_confirmed | WBPerson2021 | ||||||||
EQ_annotations | Life_stage | WBls:0000057 | PATO:0000460 | Paper_evidence | WBPaper00001105 | ||||
Curator_confirmed | WBPerson2021 | ||||||||
WBPhenotype:0000070 | Person_evidence | WBPerson261 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
Remark | Severe Mab. | Person_evidence | WBPerson261 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
WBPhenotype:0000093 | Paper_evidence | WBPaper00001105 | |||||||
Person_evidence | WBPerson261 | ||||||||
Curator_confirmed | WBPerson2021 | ||||||||
WBPerson712 | |||||||||
Remark | Transformation of sex myoblasts into body wall muscles (M. Stern, personal communication) | Paper_evidence | WBPaper00001105 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
Lineage defects. | Person_evidence | WBPerson261 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
WBPhenotype:0000354 | Paper_evidence | WBPaper00001105 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
Remark | HSN maturation is abnormal. No hood formation and nucleolar growth is observed | Paper_evidence | WBPaper00001105 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
EQ_annotations (2) | |||||||||
WBPhenotype:0000425 | Paper_evidence | WBPaper00001105 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
Remark | Serotonin levels are reduced in HSNs (determined immunocytochemically). | Paper_evidence | WBPaper00001105 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
EQ_annotations (2) | |||||||||
WBPhenotype:0000640 | Person_evidence | WBPerson261 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
WBPhenotype:0000669 | Person_evidence | WBPerson261 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
Remark | Hermaphrodite sex muscles fail to differentiate. | Person_evidence | WBPerson261 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
WBPhenotype:0000880 | Person_evidence | WBPerson261 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
Remark | Axon defects. | Person_evidence | WBPerson261 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
WBPhenotype:0001224 | Paper_evidence | WBPaper00001105 | |||||||
Curator_confirmed | WBPerson2021 | ||||||||
Remark | HSNs often extend aberrant axons | Paper_evidence | WBPaper00001105 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
EQ_annotations (2) | |||||||||
Phenotype_not_observed | 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 | ||||||||
Variation_effect | Hypomorph_reduction_of_function | Paper_evidence | WBPaper00006052 | ||||||
Curator_confirmed | WBPerson2021 | ||||||||
Phenotype_assay | Genotype | otIs114, otIs6 | Paper_evidence | WBPaper00006052 | |||||
Curator_confirmed | WBPerson2021 | ||||||||
Reference | WBPaper00006052 | ||||||||
WBPaper00022358 | |||||||||
WBPaper00014018 | |||||||||
WBPaper00011119 | |||||||||
WBPaper00001105 | |||||||||
WBPaper00014234 | |||||||||
WBPaper00017445 | |||||||||
WBPaper00002518 | |||||||||
WBPaper00051369 | |||||||||
Method | Substitution_allele |