WormBase Tree Display for Variation: WBVar00143216
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WBVar00143216 | Evidence | Paper_evidence | WBPaper00004275 | ||||
---|---|---|---|---|---|---|---|
Name | Public_name | e446 | |||||
Other_name | CE29050:p.Glu623Ter | ||||||
JC8.10b.1:c.1867G>T | |||||||
CE28239:p.Glu617Ter | |||||||
JC8.10a.1:c.1849G>T | |||||||
HGVSg | CHROMOSOME_IV:g.13265633C>A | ||||||
Sequence_details | SMap | S_parent | Sequence | Y67H2A | |||
Flanking_sequences | gaaaaagctccatttgtgctcattggctcc | agcagctcgtcggtgtttgtctattcctct | |||||
Mapping_target | Y67H2A | ||||||
Type_of_mutation | Substitution | g | t | Paper_evidence | WBPaper00004275 | ||
SeqStatus | Sequenced | ||||||
Variation_type | Allele | ||||||
Origin | Species | Caenorhabditis elegans | |||||
Laboratory | CB | ||||||
Status | Live | ||||||
Affects | Gene | WBGene00006763 | |||||
Transcript | JC8.10b.1 | VEP_consequence | stop_gained | ||||
VEP_impact | HIGH | ||||||
HGVSc | JC8.10b.1:c.1867G>T | ||||||
HGVSp | CE29050:p.Glu623Ter | ||||||
cDNA_position | 1872 | ||||||
CDS_position | 1867 | ||||||
Protein_position | 623 | ||||||
Exon_number | 8/12 | ||||||
Codon_change | Gag/Tag | ||||||
Amino_acid_change | E/* | ||||||
JC8.10a.1 | VEP_consequence | stop_gained | |||||
VEP_impact | HIGH | ||||||
HGVSc | JC8.10a.1:c.1849G>T | ||||||
HGVSp | CE28239:p.Glu617Ter | ||||||
cDNA_position | 1852 | ||||||
CDS_position | 1849 | ||||||
Protein_position | 617 | ||||||
Exon_number | 7/11 | ||||||
Codon_change | Gag/Tag | ||||||
Amino_acid_change | E/* | ||||||
Genetics | Interpolated_map_position | IV | 8.51276 | ||||
Description | Phenotype | WBPhenotype:0000017 | Paper_evidence | WBPaper00004275 | |||
Curator_confirmed | WBPerson712 | ||||||
Remark | Strong allele. unc-26 mutants are strongly resistant to inhibitors of acetylcholinesterase, indicative of a decrease in acetylcholine release. | Paper_evidence | WBPaper00004275 | ||||
Curator_confirmed | WBPerson712 | ||||||
WBPhenotype:0000210 | Paper_evidence | WBPaper00004275 | |||||
Curator_confirmed | WBPerson712 | ||||||
Remark | Strong allele. unc-26 mutants have reduced numbers of enteric muscle contractions, indicative of GABAergic function. | Paper_evidence | WBPaper00004275 | ||||
Curator_confirmed | WBPerson712 | ||||||
WBPhenotype:0000229 | Paper_evidence | WBPaper00004275 | |||||
Curator_confirmed | WBPerson712 | ||||||
Remark | Strong allele. unc-26 mutants resemble mutants lacking the biosynthetic enzyme for acetylcholine encoded by the cha-1 gene; animals are small. | Paper_evidence | WBPaper00004275 | ||||
Curator_confirmed | WBPerson712 | ||||||
WBPhenotype:0000455 | Paper_evidence | WBPaper00004275 | |||||
Curator_confirmed | WBPerson712 | ||||||
Remark | Strong allele. unc-26 mutants resemble mutants lacking the biosynthetic enzyme for acetylcholine encoded by the cha-1 gene; animals move backwards with a jerky motion. | Paper_evidence | WBPaper00004275 | ||||
Curator_confirmed | WBPerson712 | ||||||
WBPhenotype:0000565 | Paper_evidence | WBPaper00004275 | |||||
Curator_confirmed | WBPerson712 | ||||||
Remark | Strong allele. unc-26 mutants resemble mutants lacking the biosynthetic enzyme for acetylcholine encoded by the cha-1 gene; frequently coil. | Paper_evidence | WBPaper00004275 | ||||
Curator_confirmed | WBPerson712 | ||||||
Reference | WBPaper00004275 | ||||||
WBPaper00013791 | |||||||
Remark | In addition to the E(623)* described, e446 also has an R(709)T mutation. | Paper_evidence | WBPaper00004275 | ||||
Method | Substitution_allele |