WormBase Tree Display for Variation: WBVar00095116
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WBVar00095116 | Evidence | Paper_evidence | WBPaper00002585 | |||||
---|---|---|---|---|---|---|---|---|
Name | Public_name | p678 | ||||||
Other_name | CE27352:p.Gln82Ter | |||||||
ZC84.2.1:c.244C>T | ||||||||
HGVSg | CHROMOSOME_III:g.9181987C>T | |||||||
Sequence_details | SMap | S_parent | Sequence | ZC84 | ||||
Flanking_sequences | aatgcagttcaaccagcggccaccggtggt | agccggcatcttccgatggcggttcagcta | ||||||
Mapping_target | ZC84 | |||||||
Type_of_mutation | Substitution | c | t | Paper_evidence | WBPaper00002585 | |||
SeqStatus | Sequenced | |||||||
Variation_type | Allele | |||||||
Origin | Species | Caenorhabditis elegans | ||||||
Strain | WBStrain00003905 | |||||||
WBStrain00003907 | ||||||||
WBStrain00022726 | ||||||||
WBStrain00022727 | ||||||||
WBStrain00023534 | ||||||||
WBStrain00023536 | ||||||||
WBStrain00023537 | ||||||||
WBStrain00030785 | ||||||||
Laboratory | PR | |||||||
Status | Live | |||||||
Affects | Gene | WBGene00006526 | ||||||
Transcript | ZC84.2.1 | VEP_consequence | stop_gained | |||||
VEP_impact | HIGH | |||||||
HGVSc | ZC84.2.1:c.244C>T | |||||||
HGVSp | CE27352:p.Gln82Ter | |||||||
cDNA_position | 248 | |||||||
CDS_position | 244 | |||||||
Protein_position | 82 | |||||||
Exon_number | 4/12 | |||||||
Codon_change | Cag/Tag | |||||||
Amino_acid_change | Q/* | |||||||
Interactor (13) | ||||||||
Genetics | Interpolated_map_position | III | 0.283998 | |||||
Description | Phenotype (33) | |||||||
Phenotype_not_observed | WBPhenotype:0000012 | Paper_evidence | WBPaper00038115 | |||||
Curator_confirmed | WBPerson712 | |||||||
Remark | Less than 5% dauer at either 15 or 25 deg C. | Paper_evidence | WBPaper00038115 | |||||
Curator_confirmed | WBPerson712 | |||||||
WBPhenotype:0001285 | Paper_evidence | WBPaper00045598 | ||||||
Curator_confirmed | WBPerson712 | |||||||
Remark | Mutants show a significant reduction in pumping following exposure to 10% CO2, similar to the reduction observed in wild-type (N2) animals | Paper_evidence | WBPaper00045598 | |||||
Curator_confirmed | WBPerson712 | |||||||
Affected_by | Molecule | WBMol:00003023 | Paper_evidence | WBPaper00045598 | ||||
Curator_confirmed | WBPerson712 | |||||||
WBPhenotype:0001474 | Paper_evidence | WBPaper00041842 | ||||||
Curator_confirmed | WBPerson2987 | |||||||
Remark | The tax-4(p678) mutation did not affect animals' chemotaxis response to pyrazine (Figure S1D) | Paper_evidence | WBPaper00041842 | |||||
Curator_confirmed | WBPerson2987 | |||||||
Affected_by | Molecule | WBMol:00005360 | Paper_evidence | WBPaper00041842 | ||||
Curator_confirmed | WBPerson2987 | |||||||
WBPhenotype:0001616 | Paper_evidence | WBPaper00024698 | ||||||
Curator_confirmed | WBPerson712 | |||||||
Remark | Trimethadione significantly extended life-span of mutant animals (N=52)(1 ind.exp.), as observed for WT animals. | Paper_evidence | WBPaper00024698 | |||||
Curator_confirmed | WBPerson712 | |||||||
Phenotype_assay | Treatment | Lifespan analysis was performed on animals exposed to 4 mg/ml of the drug from fertilization until death. Animals were cultured on NGM plates containing the drug and seeded with OP50. | Paper_evidence | WBPaper00024698 | ||||
Curator_confirmed | WBPerson712 | |||||||
Temperature | 20C | Paper_evidence | WBPaper00024698 | |||||
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 | |||||||
Variation_effect | Null | Paper_evidence | WBPaper00006052 | |||||
Curator_confirmed | WBPerson2021 | |||||||
Phenotype_assay | Genotype | otIs114, otIs6 | Paper_evidence | WBPaper00006052 | ||||
Curator_confirmed | WBPerson2021 | |||||||
WBPhenotype:0001690 | Paper_evidence | WBPaper00028386 | ||||||
Curator_confirmed | WBPerson712 | |||||||
Phenotype_assay | Treatment | Animals were grown synchronously from hatching to L2 on NGM plates containing crude pheromone extract. | Paper_evidence | WBPaper00028386 | ||||
Curator_confirmed | WBPerson712 | |||||||
WBPhenotype:0001736 | Paper_evidence | WBPaper00031959 | ||||||
Curator_confirmed | WBPerson712 | |||||||
Remark | Animals showed no defect in acetate chemotaxis in water soluble assays when compared to che-1(p679) positive control animals. | Paper_evidence | WBPaper00031959 | |||||
Curator_confirmed | WBPerson712 | |||||||
Variation_effect | Null | Paper_evidence | WBPaper00031959 | |||||
Curator_confirmed | WBPerson712 | |||||||
Affected_by | Molecule | WBMol:00005057 | Paper_evidence | WBPaper00031959 | ||||
Curator_confirmed | WBPerson712 | |||||||
Phenotype_assay | Treatment | For the water soluble chemotaxis assay, radial gradients of NaAc were established by diffusion in the agar. | Paper_evidence | WBPaper00031959 | ||||
Curator_confirmed | WBPerson712 | |||||||
WBPhenotype:0001897 | Paper_evidence | WBPaper00032087 | ||||||
Curator_confirmed | WBPerson2021 | |||||||
Remark | Loss-of-function mutations in the TAX-4 CNG channels do not affect the overall locomotion response to short wavelength light | Paper_evidence | WBPaper00032087 | |||||
Curator_confirmed | WBPerson2021 | |||||||
Variation_effect | Probable_null_via_phenotype | Paper_evidence | WBPaper00032087 | |||||
Curator_confirmed | WBPerson2021 | |||||||
Reference (37) | ||||||||
Remark | Corrected from pr678 appeared In 2002 European Worm Meeting abstract | Person_evidence | WBPerson712 | |||||
Method | Substitution_allele |