WormBase Tree Display for Variation: WBVar00000263

WBVar00000263 Evidence: Paper_evidence: WBPaper00004883
  Name: Public_name: ar506
    Other_name: F25D7.1.1:c.126G>A
      CE09629:p.Trp42Ter
    HGVSg: CHROMOSOME_I:g.10400052C>T
  Sequence_details: SMap: S_parent: Sequence: F25D7
    Flanking_sequences: tcatcaatgtacaatggatgtttctacaatg gatctcgtagtcaacaagttccaggtacact
    Mapping_target: F25D7
    Type_of_mutation: Substitution: g a Paper_evidence: WBPaper00033458
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00008047
    Laboratory: GS
    Status: Live
  Affects: Gene: WBGene00000843
    Transcript: F25D7.1.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: F25D7.1.1:c.126G>A
        HGVSp: CE09629:p.Trp42Ter
        cDNA_position: 126
        CDS_position: 126
        Protein_position: 42
        Exon_number: 1/4
        Codon_change: tgG/tgA
        Amino_acid_change: W/*
    Interactor: WBInteraction000051453
      WBInteraction000503998
  Genetics: Interpolated_map_position: I 4.9713
  Description: Phenotype: WBPhenotype:0001426 Paper_evidence: WBPaper00004883
        Curator_confirmed: WBPerson712
        Remark: Animals exhibited an accumulation of GFP in the pseudocoelom, rather than being taken up and degraded by coelomocytes as occurred in control animals. Paper_evidence: WBPaper00004883
            Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: dpy-20(e1282); arIs37[pmyo-3::ssGFP] Paper_evidence: WBPaper00004883
              Curator_confirmed: WBPerson712
      WBPhenotype:0001806 Paper_evidence: WBPaper00041076
        Curator_confirmed: WBPerson2987
        Remark: "We found that both R151.6(RNAi) and cup-2(ar506) loss-of-function mutants increased total and apical membrane protein levels of PGP-3(ΔF508)." Paper_evidence: WBPaper00041076
            Curator_confirmed: WBPerson2987
        Phenotype_assay: Genotype: drSi5 [Cbr-unc-119(+); vha-6p::3XFLAG-pgp-3(CFTR deletion F508)-mCherry::unc-54] Paper_evidence: WBPaper00041076
              Curator_confirmed: WBPerson2987
    Phenotype_not_observed: WBPhenotype:0000643 Paper_evidence: WBPaper00004883
        Curator_confirmed: WBPerson712
        Remark: Animals had normal movement. Paper_evidence: WBPaper00004883
            Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: dpy-20(e1282); arIs37[pmyo-3::ssGFP] Paper_evidence: WBPaper00004883
              Curator_confirmed: WBPerson712
  Reference: WBPaper00041076
    WBPaper00004883
  Method: Substitution_allele