WormBase Tree Display for Variation: WBVar02147420

WBVar02147420 Evidence: Paper_evidence: WBPaper00046863
  Name: Public_name: et26
    Other_name: CE38576:p.Gln137Ter
      CE32033:p.Gln137Ter
      ZC376.7b.2:c.409C>T
      CE15205:p.Gln153Ter
      ZC376.7c.2:c.409C>T
      ZC376.7a.1:c.457C>T
      ZC376.7c.1:c.409C>T
      ZC376.7b.1:c.409C>T
      ZC376.7a.2:c.457C>T
    HGVSg: CHROMOSOME_V:g.14195042C>T
  Sequence_details: SMap: S_parent: Sequence: ZC376
    Flanking_sequences: agcagtgttggacatccacatggtcatcag aacaacagcagacatgtcagcagccgccca
    Mapping_target: ZC376
    Type_of_mutation: Substitution: c t Paper_evidence: WBPaper00046863
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Laboratory: QC
    Status: Live
  Affects: Gene: WBGene00013878
    Transcript: ZC376.7c.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: ZC376.7c.1:c.409C>T
        HGVSp: CE38576:p.Gln137Ter
        cDNA_position: 446
        CDS_position: 409
        Protein_position: 137
        Exon_number: 5/10
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
      ZC376.7a.2 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: ZC376.7a.2:c.457C>T
        HGVSp: CE15205:p.Gln153Ter
        cDNA_position: 627
        CDS_position: 457
        Protein_position: 153
        Exon_number: 5/10
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
      ZC376.7b.2 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: ZC376.7b.2:c.409C>T
        HGVSp: CE32033:p.Gln137Ter
        cDNA_position: 583
        CDS_position: 409
        Protein_position: 137
        Exon_number: 6/11
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
      ZC376.7a.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: ZC376.7a.1:c.457C>T
        HGVSp: CE15205:p.Gln153Ter
        cDNA_position: 494
        CDS_position: 457
        Protein_position: 153
        Exon_number: 4/9
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
      ZC376.7c.2 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: ZC376.7c.2:c.409C>T
        HGVSp: CE38576:p.Gln137Ter
        cDNA_position: 559
        CDS_position: 409
        Protein_position: 137
        Exon_number: 6/11
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
      ZC376.7b.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: ZC376.7b.1:c.409C>T
        HGVSp: CE32033:p.Gln137Ter
        cDNA_position: 446
        CDS_position: 409
        Protein_position: 137
        Exon_number: 5/10
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
    Interactor: WBInteraction000537439
  Genetics: Interpolated_map_position: V 6.19623
  Description: Phenotype_not_observed: WBPhenotype:0000306 Paper_evidence: WBPaper00046863
        Curator_confirmed: WBPerson2987
        Remark: atfs-1(et26) did not affect expression of the hsp-60::GFP transgene (Figure 5C) Paper_evidence: WBPaper00046863
            Curator_confirmed: WBPerson2987
        EQ_annotations: GO_term: GO:0034514 PATO:0000460 Paper_evidence: WBPaper00046863
                Curator_confirmed: WBPerson2987
        Phenotype_assay: Genotype: hsp-60::GFP Paper_evidence: WBPaper00046863
              Curator_confirmed: WBPerson2987
      WBPhenotype:0000523 Paper_evidence: WBPaper00046863
        Curator_confirmed: WBPerson2987
        Remark: "Ten of these mutants were characterized in some detail. All were growth-inhibited by 0.5 mM fluvastatin, to which the atfs-1(et15) allele is resistant, and all harbored mutations within the coding region of atfs-1 (Figure 5, D and E)." Paper_evidence: WBPaper00046863
            Curator_confirmed: WBPerson2987
        Variation_effect: Hypomorph_reduction_of_function: Paper_evidence: WBPaper00046863
            Curator_confirmed: WBPerson2987
        Affected_by: Molecule: WBMol:00003950 Paper_evidence: WBPaper00046863
              Curator_confirmed: WBPerson2987
  Reference: WBPaper00046863
  Method: Substitution_allele