WormBase Tree Display for Variation: WBVar00241391

WBVar00241391 Evidence: Paper_evidence: WBPaper00005723
  Name: Public_name: r860
    Other_name: CE25134:p.Gln17Ter
      W02D3.8.1:c.49C>T
    HGVSg: CHROMOSOME_I:g.6736104G>A
  Sequence_details: SMap: S_parent: Sequence: W02D3
    Flanking_sequences: gtcactgaaaagttcaaacgatattgtaat aactggaaaaatacggccaaactgaaaatg
    Mapping_target: W02D3
    Type_of_mutation: Substitution: c t
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00034942
      WBStrain00034944
    Laboratory: TR
    Status: Live
  Affects: Gene: WBGene00004883
    Transcript: W02D3.8.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: W02D3.8.1:c.49C>T
        HGVSp: CE25134:p.Gln17Ter
        cDNA_position: 58
        CDS_position: 49
        Protein_position: 17
        Exon_number: 2/7
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
    Interactor: WBInteraction000519069
      WBInteraction000519085
  Genetics: Interpolated_map_position: I 1.3019
    Mapping_data: In_2_point: 4745
      In_multi_point: 1689
        1891
        1892
  Description: Phenotype: WBPhenotype:0000506 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: adult male has swollen bursa Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000508 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: unc-54 nonsense RNAs accumulate Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000697 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: adult hermaphrodite has protruding vulva Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0001538 Paper_evidence: WBPaper00001192
          WBPaper00001813
        Curator_confirmed: WBPerson2021
        Remark: Isolated as a suppressor of unc-54(r293). This allele exhibits morphological abnormalities in the genitalia. Suppresses paralysis in unc-54(r293), sterility in tra-2(e1209), Egl and alae defects in lin-29(n546) and Dpy phenotype in dpy-5(e61) Paper_evidence: WBPaper00001192
            Curator_confirmed: WBPerson2021
          Increases the steady state level of unc-54 mutant mRNAs (altered 3' UTR and nonsense mutations). Paper_evidence: WBPaper00001813
            Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00001192
            WBPaper00001813
          Curator_confirmed: WBPerson2021
      WBPhenotype:0001828 Paper_evidence: WBPaper00004325
        Curator_confirmed: WBPerson2021
        Remark: Mutant smg-5 animals recovered rapidly from unc-54 RNAi-induced paralysis, unlike wild-type Paper_evidence: WBPaper00004325
            Curator_confirmed: WBPerson2021
        Phenotype_assay: Treatment: RNAi injection Paper_evidence: WBPaper00004325
              Curator_confirmed: WBPerson2021
  Reference: WBPaper00014415
    WBPaper00004325
    WBPaper00001192
    WBPaper00001813
    WBPaper00013850
  Method: Substitution_allele