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 (86)
      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