WormBase Tree Display for Variation: WBVar00143000
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| WBVar00143000 | Evidence | Paper_evidence | WBPaper00003350 | ||||||
|---|---|---|---|---|---|---|---|---|---|
| Name | Public_name | e156 | |||||||
| Other_name | Y37D8A.23a.1:c.1148G>A | ||||||||
| Y37D8A.23c.1:c.923G>A | |||||||||
| CE20226:p.Trp383Ter | |||||||||
| Y37D8A.23b.1:c.1148G>A | |||||||||
| CE32012:p.Trp308Ter | |||||||||
| CE31832:p.Trp383Ter | |||||||||
| HGVSg | CHROMOSOME_III:g.12948395G>A | ||||||||
| Sequence_details | SMap | S_parent | Sequence | Y37D8A | |||||
| Flanking_sequences | acaatgatgttttcaagctttggttgatgt | gaagagcaagggaatggagggatatcgtca | |||||||
| Mapping_target | Y37D8A | ||||||||
| Type_of_mutation | Substitution | G | A | Paper_evidence | WBPaper00003350 | ||||
| SeqStatus | Sequenced | ||||||||
| Variation_type | Allele | ||||||||
| Origin | Species | Caenorhabditis elegans | |||||||
| Strain | WBStrain00000375 | ||||||||
| WBStrain00003988 | |||||||||
| WBStrain00003989 | |||||||||
| WBStrain00004114 | |||||||||
| WBStrain00006185 | |||||||||
| WBStrain00022474 | |||||||||
| WBStrain00026567 | |||||||||
| WBStrain00027252 | |||||||||
| WBStrain00030696 | |||||||||
| WBStrain00033396 | |||||||||
| WBStrain00033397 | |||||||||
| WBStrain00033398 | |||||||||
| WBStrain00034353 | |||||||||
| WBStrain00055683 | |||||||||
| WBStrain00055686 | |||||||||
| WBStrain00055692 | |||||||||
| WBStrain00055725 | |||||||||
| WBStrain00055731 | |||||||||
| WBStrain00055734 | |||||||||
| WBStrain00056063 | |||||||||
| WBStrain00056143 | |||||||||
| WBStrain00056144 | |||||||||
| Laboratory | CB | ||||||||
| OJ | |||||||||
| Status | Live | ||||||||
| Affects | Gene | WBGene00006762 | |||||||
| Transcript | Y37D8A.23c.1 | VEP_consequence | stop_gained | ||||||
| VEP_impact | HIGH | ||||||||
| HGVSc | Y37D8A.23c.1:c.923G>A | ||||||||
| HGVSp | CE32012:p.Trp308Ter | ||||||||
| cDNA_position | 923 | ||||||||
| CDS_position | 923 | ||||||||
| Protein_position | 308 | ||||||||
| Exon_number | 4/6 | ||||||||
| Codon_change | tGg/tAg | ||||||||
| Amino_acid_change | W/* | ||||||||
| Y37D8A.23b.1 | VEP_consequence | stop_gained | |||||||
| VEP_impact | HIGH | ||||||||
| HGVSc | Y37D8A.23b.1:c.1148G>A | ||||||||
| HGVSp | CE31832:p.Trp383Ter | ||||||||
| cDNA_position | 1148 | ||||||||
| CDS_position | 1148 | ||||||||
| Protein_position | 383 | ||||||||
| Exon_number | 6/9 | ||||||||
| Codon_change | tGg/tAg | ||||||||
| Amino_acid_change | W/* | ||||||||
| Y37D8A.23a.1 | VEP_consequence | stop_gained | |||||||
| VEP_impact | HIGH | ||||||||
| HGVSc | Y37D8A.23a.1:c.1148G>A | ||||||||
| HGVSp | CE20226:p.Trp383Ter | ||||||||
| cDNA_position | 1158 | ||||||||
| CDS_position | 1148 | ||||||||
| Protein_position | 383 | ||||||||
| Exon_number | 7/10 | ||||||||
| Codon_change | tGg/tAg | ||||||||
| Amino_acid_change | W/* | ||||||||
| Interactor | WBInteraction000001428 | ||||||||
| WBInteraction000517365 | |||||||||
| WBInteraction000517573 | |||||||||
| WBInteraction000555296 | |||||||||
| WBInteraction000558065 | |||||||||
| WBInteraction000558066 | |||||||||
| Genetics | Interpolated_map_position | III | 20.6631 | ||||||
| Mapping_data | In_2_point | 57 | |||||||
| 68 | |||||||||
| 78 | |||||||||
| 6019 | |||||||||
| 6109 | |||||||||
| 7009 | |||||||||
| 7010 | |||||||||
| In_multi_point | 93 | ||||||||
| 1505 | |||||||||
| 1658 | |||||||||
| 1659 | |||||||||
| 1661 | |||||||||
| 2027 | |||||||||
| 2028 | |||||||||
| 2033 | |||||||||
| 2115 | |||||||||
| 2116 | |||||||||
| 2117 | |||||||||
| 2118 | |||||||||
| 2119 | |||||||||
| 2120 | |||||||||
| 2122 | |||||||||
| 2212 | |||||||||
| 2236 | |||||||||
| 2249 | |||||||||
| 2250 | |||||||||
| 3053 | |||||||||
| 3054 | |||||||||
| 3055 | |||||||||
| 3056 | |||||||||
| 3057 | |||||||||
| 3108 | |||||||||
| 3114 | |||||||||
| 3236 | |||||||||
| 3248 | |||||||||
| 3262 | |||||||||
| 3263 | |||||||||
| 3264 | |||||||||
| 3266 | |||||||||
| In_pos_neg_data | 354 | ||||||||
| Description | Phenotype | WBPhenotype:0000010 | Paper_evidence | WBPaper00036766 | |||||
| Curator_confirmed | WBPerson712 | ||||||||
| Remark | unc-25 mutants were hypersensitive to fluoxetine in the paralysis assay. | Paper_evidence | WBPaper00036766 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Affected_by | Molecule | WBMol:00005058 | Paper_evidence | WBPaper00036766 | |||||
| Curator_confirmed | WBPerson712 | ||||||||
| WBPhenotype:0000016 | Paper_evidence | WBPaper00031872 | |||||||
| WBPaper00035198 | |||||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Remark | % animals paralyzed after 60 min on 1mM aldicarb was significantly higher than % N2 animals paralyzed. | Paper_evidence | WBPaper00031872 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Affected_by | Molecule | WBMol:00003650 | Paper_evidence | WBPaper00031872 | |||||
| WBPaper00035198 | |||||||||
| Curator_confirmed | WBPerson712 | ||||||||
| EQ_annotations | Anatomy_term | WBbt:0007833 | PATO:0001549 | Paper_evidence | WBPaper00031872 | ||||
| WBPaper00035198 | |||||||||
| Curator_confirmed | WBPerson712 | ||||||||
| WBPhenotype:0000180 | Paper_evidence | WBPaper00006029 | |||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Remark | 148/549 adult animals showed defects as visualized by unc-47::GFP. | Paper_evidence | WBPaper00006029 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| EQ_annotations | Anatomy_term | WBbt:0004822 | PATO:0000460 | Paper_evidence | WBPaper00006029 | ||||
| Curator_confirmed | WBPerson712 | ||||||||
| Phenotype_assay | Genotype | oxIs12 | Paper_evidence | WBPaper00006029 | |||||
| Curator_confirmed | WBPerson712 | ||||||||
| WBPhenotype:0000229 | Person_evidence | WBPerson261 | |||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Remark | slightly small | Person_evidence | WBPerson261 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| WBPhenotype:0000273 | Paper_evidence | WBPaper00035198 | |||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Remark | Animals exhibit reduced thrashing compared to wild-type animals; however, animals thrashed significantly more than unc-49(e407) mutants. | Paper_evidence | WBPaper00035198 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| WBPhenotype:0000380 | Paper_evidence | WBPaper00006029 | |||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Remark | % of animals with expulsions was significantly decreased compared to wild-type at all temperatures. | Paper_evidence | WBPaper00006029 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| EQ_annotations | Anatomy_term | WBbt:0005803 | PATO:0000460 | Paper_evidence | WBPaper00006029 | ||||
| Curator_confirmed | WBPerson712 | ||||||||
| Phenotype_assay | Temperature | 15, 20, 25 | Paper_evidence | WBPaper00006029 | |||||
| Curator_confirmed | WBPerson712 | ||||||||
| WBPhenotype:0000402 | Paper_evidence | WBPaper00056338 | |||||||
| Curator_confirmed | WBPerson36360 | ||||||||
| WBPhenotype:0000420 | Paper_evidence | WBPaper00031872 | |||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Remark | % animals paralyzed after 60 min on 200mM levamisole was significantly higher than % N2 animals paralyzed under same conditions. | Paper_evidence | WBPaper00031872 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Affected_by | Molecule | WBMol:00004019 | Paper_evidence | WBPaper00031872 | |||||
| Curator_confirmed | WBPerson712 | ||||||||
| WBPhenotype:0000552 | Person_evidence | WBPerson261 | |||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Remark | deficient in GABA | Person_evidence | WBPerson261 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| WBPhenotype:0000563 | Paper_evidence | WBPaper00004889 | |||||||
| Person_evidence | WBPerson261 | ||||||||
| Curator_confirmed | WBPerson712 | ||||||||
| WBPerson2987 | |||||||||
| Remark | shrinker, contracts both dorsally and ventrally when prodded | Person_evidence | WBPerson261 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Table I | Paper_evidence | WBPaper00004889 | |||||||
| Curator_confirmed | WBPerson2987 | ||||||||
| Ease_of_scoring | ES3_Easy_to_score | Person_evidence | WBPerson261 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| WBPhenotype:0000604 | Person_evidence | WBPerson261 | |||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Remark | some neuroanatomical defects (D motorneurons) | Person_evidence | WBPerson261 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| EQ_annotations | Anatomy_term | WBbt:0005409 | PATO:0000460 | Person_evidence | WBPerson261 | ||||
| Curator_confirmed | WBPerson712 | ||||||||
| WBPhenotype:0000631 | Paper_evidence | WBPaper00035198 | |||||||
| WBPaper00055158 | |||||||||
| Curator_confirmed | WBPerson712 | ||||||||
| WBPerson8908 | |||||||||
| Remark | Animals exhibit anterior convulsions when treated with pentylenetetrazole(PTZ). | Paper_evidence | WBPaper00035198 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Pentylenetetrazol-induced convulsions seen with these alleles | Paper_evidence | WBPaper00055158 | |||||||
| Curator_confirmed | WBPerson8908 | ||||||||
| Penetrance | Incomplete | Paper_evidence | WBPaper00055158 | ||||||
| Curator_confirmed | WBPerson8908 | ||||||||
| Affected_by | Molecule | WBMol:00004251 | Paper_evidence | WBPaper00035198 | |||||
| WBPaper00055158 | |||||||||
| Curator_confirmed | WBPerson712 | ||||||||
| WBPerson8908 | |||||||||
| Phenotype_assay | Control_strain | WBStrain00000001 | Paper_evidence | WBPaper00055158 | |||||
| Curator_confirmed | WBPerson8908 | ||||||||
| WBPhenotype:0000643 | Paper_evidence | WBPaper00000031 | |||||||
| Curator_confirmed | WBPerson48 | ||||||||
| WBPhenotype:0000646 | Person_evidence | WBPerson261 | |||||||
| Curator_confirmed | WBPerson712 | ||||||||
| WBPhenotype:0000662 | Person_evidence | WBPerson261 | |||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Remark | Fab | Person_evidence | WBPerson261 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| WBPhenotype:0000664 | Person_evidence | WBPerson261 | |||||||
| Curator_confirmed | WBPerson712 | ||||||||
| WBPhenotype:0000996 | Person_evidence | WBPerson261 | |||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Remark | Exp defect in defecation | Person_evidence | WBPerson261 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| WBPhenotype:0001005 | Person_evidence | WBPerson261 | |||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Remark | poor backing | Person_evidence | WBPerson261 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| WBPhenotype:0001265 | Paper_evidence | WBPaper00042154 | |||||||
| Curator_confirmed | WBPerson1455 | ||||||||
| Remark | In free locomotion, head swing is irregular, and the irregularity increases remarkably with aging (Fig. 3 and Fig. 8D). | Paper_evidence | WBPaper00042154 | ||||||
| Curator_confirmed | WBPerson1455 | ||||||||
| WBPhenotype:0001524 | Paper_evidence | WBPaper00045634 | |||||||
| Curator_confirmed | WBPerson13849 | ||||||||
| Remark | decreased total quiescence | Paper_evidence | WBPaper00045634 | ||||||
| Curator_confirmed | WBPerson13849 | ||||||||
| WBPhenotype:0002159 | Paper_evidence | WBPaper00056338 | |||||||
| Curator_confirmed | WBPerson36360 | ||||||||
| WBPhenotype:0002490 | Paper_evidence | WBPaper00006029 | |||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Remark | 148/549 adult animals showed defects as visualized by unc-47::GFP. | Paper_evidence | WBPaper00006029 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| EQ_annotations | Anatomy_term | WBbt:0004822 | PATO:0000460 | Paper_evidence | WBPaper00006029 | ||||
| Curator_confirmed | WBPerson712 | ||||||||
| Phenotype_assay | Genotype | oxIs12 | Paper_evidence | WBPaper00006029 | |||||
| Curator_confirmed | WBPerson712 | ||||||||
| Phenotype_not_observed | WBPhenotype:0001426 | Paper_evidence | WBPaper00004883 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Phenotype_assay | Genotype | arIs37 | Paper_evidence | WBPaper00004883 | |||||
| Curator_confirmed | WBPerson712 | ||||||||
| WBPhenotype:0001645 | Paper_evidence | WBPaper00040284 | |||||||
| Curator_confirmed | WBPerson2987 | ||||||||
| Remark | Table S2 | Paper_evidence | WBPaper00040284 | ||||||
| Curator_confirmed | WBPerson2987 | ||||||||
| Disease_info | Models_disease | DOID:1826 | |||||||
| Models_disease_in_annotation | WBDOannot00000549 | ||||||||
| Reference | WBPaper00040284 | ||||||||
| WBPaper00031872 | |||||||||
| WBPaper00000031 | |||||||||
| WBPaper00004883 | |||||||||
| WBPaper00035198 | |||||||||
| WBPaper00006029 | |||||||||
| WBPaper00036766 | |||||||||
| WBPaper00015616 | |||||||||
| WBPaper00015529 | |||||||||
| WBPaper00015530 | |||||||||
| WBPaper00025822 | |||||||||
| WBPaper00016473 | |||||||||
| WBPaper00011225 | |||||||||
| WBPaper00022996 | |||||||||
| WBPaper00003350 | |||||||||
| WBPaper00004889 | |||||||||
| WBPaper00042154 | |||||||||
| WBPaper00045634 | |||||||||
| WBPaper00056338 | |||||||||
| WBPaper00055158 | |||||||||
| WBPaper00065340 | |||||||||
| WBPaper00065802 | |||||||||
| WBPaper00065757 | |||||||||
| Method | Substitution_allele |
