WormBase Tree Display for Variation: WBVar00143063

WBVar00143063 Evidence: Paper_evidence: WBPaper00031175
  Name: Public_name: e251
    Other_name: CE24860:p.Trp452Ter
      C50C3.9c.1:c.1355G>A
      CE32168:p.Trp496Ter
      C50C3.9a.1:c.1487G>A
    HGVSg: CHROMOSOME_III:g.8197512C>T
  Sequence_details: SMap: S_parent: Sequence: C50C3
    Flanking_sequences: cattataaagaatctggacaattatcttggt gactggagtttacagagaaagattggtgagt
    Mapping_target: C50C3
    Type_of_mutation: Substitution: g a Paper_evidence: WBPaper00031175
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain (67)
    Laboratory: CB
    Status: Live
  Affects: Gene: WBGene00006772
    Transcript: C50C3.9a.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: C50C3.9a.1:c.1487G>A
        HGVSp: CE32168:p.Trp496Ter
        cDNA_position: 1588
        CDS_position: 1487
        Protein_position: 496
        Exon_number: 9/18
        Codon_change: tGg/tAg
        Amino_acid_change: W/*
      C50C3.9c.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: C50C3.9c.1:c.1355G>A
        HGVSp: CE24860:p.Trp452Ter
        cDNA_position: 1467
        CDS_position: 1355
        Protein_position: 452
        Exon_number: 8/17
        Codon_change: tGg/tAg
        Amino_acid_change: W/*
    Interactor: WBInteraction000052098
      WBInteraction000052102
      WBInteraction000502423
      WBInteraction000502424
  Genetics: Interpolated_map_position: III -0.373497
    Mapping_data: In_2_point (12)
      In_multi_point: 76
        368
        369
        370
        376
        377
        378
        379
        389
        406
        409
        412
        428
        429
        430
        559
        756
        872
        874
        877
        878
        1093
        1100
        1101
        1109
        1110
        1113
        1397
        1403
        1405
        1406
        1407
        1410
        1411
        1413
        1417
        1419
        1484
        1486
        1494
        1623
        1624
        1634
        1639
        1662
        1667
        1753
        1755
        1886
        1903
        1904
        1907
        2056
        2104
        2130
        2178
        2180
        2181
        2182
        2186
        2187
        2188
        2189
        2217
        2242
        2243
        2247
        2743
        2761
        3167
        3168
        3169
        3170
        3175
        3178
        3191
        3192
        3297
        3298
        3299
        3300
        3301
        3302
        3305
        3306
        3387
      In_pos_neg_data: 807
        818
        1617
        3807
  Description: Phenotype (20)
    Phenotype_not_observed: WBPhenotype:0001182 Paper_evidence: WBPaper00031915
        Curator_confirmed: WBPerson2021
        Remark: Mutants had wild-type fat content Paper_evidence: WBPaper00031915
            Curator_confirmed: WBPerson2021
        Phenotype_assay: Treatment: Fat content was visualized by Nile red staining Paper_evidence: WBPaper00031915
              Curator_confirmed: WBPerson2021
      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 1 Paper_evidence: WBPaper00040284
            Curator_confirmed: WBPerson2987
      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
      WBPhenotype:0001811 Paper_evidence: WBPaper00031915
        Curator_confirmed: WBPerson2021
        Remark: Mutants were susceptible to the fat-reducing effects of exogenously administered serotonin Paper_evidence: WBPaper00031915
            Curator_confirmed: WBPerson2021
        Phenotype_assay: Treatment: Reduced fat content of 5-HT-treated animals was visualized by Nile red staining and confirmed by thin-layer chromatography (TLC) quantitation of total triglycerides extracted from vehicle- and 5-HT-treated worms and by Sudan black fat staining Paper_evidence: WBPaper00031915
              Curator_confirmed: WBPerson2021
  Reference (30)
  Remark: Manually curated Gene associations preserved as a text remark so that VEP is the canonical predictor of consequence: WBGene00006772 Amber_UAG_or_Opal_UGA
  Method: Substitution_allele