WormBase Tree Display for Variation: WBVar00146337
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WBVar00146337 | Evidence | Paper_evidence | WBPaper00003653 | |||||
---|---|---|---|---|---|---|---|---|
Name | Public_name | gm105 | ||||||
Other_name | C01G6.8c.2:c.1216C>T | |||||||
CE39126:p.Gln406Ter | ||||||||
C01G6.8c.1:c.1216C>T | ||||||||
CE32563:p.Gln565Ter | ||||||||
C01G6.8a.1:c.1693C>T | ||||||||
CE24774:p.Gln539Ter | ||||||||
C01G6.8b.1:c.1615C>T | ||||||||
HGVSg | CHROMOSOME_II:g.9297602G>A | |||||||
Sequence_details | SMap | S_parent | Sequence | C01G6 | ||||
Flanking_sequences | ccaccatatccaatggatcaacatctccaa | aagctcgtcgttttccatctcaagagccaa | ||||||
Mapping_target | C01G6 | |||||||
Type_of_mutation | Substitution | c | t | Paper_evidence | WBPaper00003653 | |||
SeqStatus | Sequenced | |||||||
Variation_type | Allele | |||||||
Origin | Species | Caenorhabditis elegans | ||||||
Strain | WBStrain00040346 | |||||||
Laboratory | NG | |||||||
Status | Live | |||||||
Affects | Gene | WBGene00000289 | ||||||
Transcript | C01G6.8c.1 | VEP_consequence | stop_gained | |||||
VEP_impact | HIGH | |||||||
HGVSc | C01G6.8c.1:c.1216C>T | |||||||
HGVSp | CE39126:p.Gln406Ter | |||||||
cDNA_position | 1319 | |||||||
CDS_position | 1216 | |||||||
Protein_position | 406 | |||||||
Exon_number | 5/8 | |||||||
Codon_change | Caa/Taa | |||||||
Amino_acid_change | Q/* | |||||||
C01G6.8b.1 | VEP_consequence | stop_gained | ||||||
VEP_impact | HIGH | |||||||
HGVSc | C01G6.8b.1:c.1615C>T | |||||||
HGVSp | CE24774:p.Gln539Ter | |||||||
cDNA_position | 1647 | |||||||
CDS_position | 1615 | |||||||
Protein_position | 539 | |||||||
Exon_number | 7/10 | |||||||
Codon_change | Caa/Taa | |||||||
Amino_acid_change | Q/* | |||||||
C01G6.8c.2 | VEP_consequence | stop_gained | ||||||
VEP_impact | HIGH | |||||||
HGVSc | C01G6.8c.2:c.1216C>T | |||||||
HGVSp | CE39126:p.Gln406Ter | |||||||
cDNA_position | 1221 | |||||||
CDS_position | 1216 | |||||||
Protein_position | 406 | |||||||
Exon_number | 4/7 | |||||||
Codon_change | Caa/Taa | |||||||
Amino_acid_change | Q/* | |||||||
C01G6.8a.1 | VEP_consequence | stop_gained | ||||||
VEP_impact | HIGH | |||||||
HGVSc | C01G6.8a.1:c.1693C>T | |||||||
HGVSp | CE32563:p.Gln565Ter | |||||||
cDNA_position | 1696 | |||||||
CDS_position | 1693 | |||||||
Protein_position | 565 | |||||||
Exon_number | 8/11 | |||||||
Codon_change | Caa/Taa | |||||||
Amino_acid_change | Q/* | |||||||
Genetics | Interpolated_map_position | II | 1.10207 | |||||
Description | Phenotype | WBPhenotype:0000006 | Paper_evidence | WBPaper00002978 | ||||
Curator_confirmed | WBPerson557 | |||||||
Penetrance | Incomplete | 70 percent | Paper_evidence | WBPaper00002978 | ||||
Curator_confirmed | WBPerson557 | |||||||
WBPhenotype:0000230 | Paper_evidence | WBPaper00002978 | ||||||
Curator_confirmed | WBPerson557 | |||||||
Penetrance | Low | 9 percent | Paper_evidence | WBPaper00002978 | ||||
Curator_confirmed | WBPerson557 | |||||||
WBPhenotype:0000308 | Paper_evidence | WBPaper00003653 | ||||||
Curator_confirmed | WBPerson712 | |||||||
Remark | Dauer development is disrupted. | Paper_evidence | WBPaper00003653 | |||||
Curator_confirmed | WBPerson712 | |||||||
WBPhenotype:0000406 | Paper_evidence | WBPaper00002978 | ||||||
Curator_confirmed | WBPerson557 | |||||||
Penetrance | Low | 6 percent | Paper_evidence | WBPaper00002978 | ||||
Curator_confirmed | WBPerson557 | |||||||
WBPhenotype:0000594 | Paper_evidence | WBPaper00003653 | ||||||
Curator_confirmed | WBPerson712 | |||||||
Remark | This mutation only has subtle effects on cell migrations. | Paper_evidence | WBPaper00003653 | |||||
Curator_confirmed | WBPerson712 | |||||||
WBPhenotype:0000643 | Paper_evidence | WBPaper00003653 | ||||||
WBPaper00002978 | ||||||||
Curator_confirmed | WBPerson712 | |||||||
WBPerson557 | ||||||||
Remark | Locomotion is disrupted. | Paper_evidence | WBPaper00003653 | |||||
Curator_confirmed | WBPerson712 | |||||||
Penetrance | Incomplete | 87 percent | Paper_evidence | WBPaper00002978 | ||||
Curator_confirmed | WBPerson557 | |||||||
WBPhenotype:0001224 | Paper_evidence | WBPaper00003653 | ||||||
Curator_confirmed | WBPerson712 | |||||||
Remark | CP axon outgrowth is disrupted. | Paper_evidence | WBPaper00003653 | |||||
Curator_confirmed | WBPerson712 | |||||||
Phenotype_not_observed | WBPhenotype:0000163 | Paper_evidence | WBPaper00002978 | |||||
Curator_confirmed | WBPerson557 | |||||||
WBPhenotype:0000218 | Paper_evidence | WBPaper00031110 | ||||||
Curator_confirmed | WBPerson712 | |||||||
Remark | No significant number of overinduced animals (worms with greater than three VPCs induced) were detected. | Paper_evidence | WBPaper00031110 | |||||
Curator_confirmed | WBPerson712 | |||||||
WBPhenotype:0000219 | Paper_evidence | WBPaper00031110 | ||||||
Curator_confirmed | WBPerson712 | |||||||
Remark | No underinduced animals (worms with fewer than 22 vulval cells or fewer than three VPCs induced) were detected. | Paper_evidence | WBPaper00031110 | |||||
Curator_confirmed | WBPerson712 | |||||||
WBPhenotype:0000700 | Paper_evidence | WBPaper00002978 | ||||||
Curator_confirmed | WBPerson557 | |||||||
WBPhenotype:0001585 | Paper_evidence | WBPaper00003653 | ||||||
Curator_confirmed | WBPerson712 | |||||||
Remark | V1 division is not affected as in gm122 mutants. | Paper_evidence | WBPaper00003653 | |||||
Curator_confirmed | WBPerson712 | |||||||
Reference | WBPaper00031110 | |||||||
WBPaper00003653 | ||||||||
WBPaper00002978 | ||||||||
WBPaper00018944 | ||||||||
Method | Substitution_allele |