WormBase Tree Display for Variation: WBVar00143847

WBVar00143847 Name: Public_name: e1228
    Other_name: CE30258:p.Trp1120Ter
      C48B6.6b.1:c.3366G>A
      C48B6.6a.1:c.3360G>A
      CE53740:p.Trp1122Ter
    HGVSg: CHROMOSOME_I:g.6907231C>T
  Sequence_details: SMap: S_parent: Sequence: C48B6
    Flanking_sequences: AAATCTTGTCAATAAAATGACTGGTGTCTCACAATG AAGAATAAACTCACTGATACGGAAATATTCGATAGAAATGAAGA
    Mapping_target: C48B6
    Type_of_mutation: Substitution: g a
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00004449
      WBStrain00004569
      WBStrain00007440
      WBStrain00007451
      WBStrain00008044
    Laboratory: CB
    Status: Live
  Affects: Gene: WBGene00004879
    Transcript: C48B6.6b.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: C48B6.6b.1:c.3366G>A
        HGVSp: CE53740:p.Trp1122Ter
        cDNA_position: 3366
        CDS_position: 3366
        Protein_position: 1122
        Exon_number: 22/42
        Codon_change: tgG/tgA
        Amino_acid_change: W/*
      C48B6.6a.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: C48B6.6a.1:c.3360G>A
        HGVSp: CE30258:p.Trp1120Ter
        cDNA_position: 3388
        CDS_position: 3360
        Protein_position: 1120
        Exon_number: 23/44
        Codon_change: tgG/tgA
        Amino_acid_change: W/*
    Interactor: WBInteraction000519151
      WBInteraction000519160
  Genetics: Interpolated_map_position: I 1.48154
    Mapping_data: In_2_point: 328
      In_multi_point: 204
        2089
  Description: Phenotype: WBPhenotype:0000506 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: Adult male has swollen bursa; easy to score (ES3) in adult male. Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        Ease_of_scoring: ES3_Easy_to_score: 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. Difficult to score (ES2). Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        Ease_of_scoring: ES2_Difficult_to_score: Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0001538 Paper_evidence: WBPaper00001192
        Curator_confirmed: WBPerson2021
        Remark: Isolated from a male morphology screen. 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
        Recessive: Paper_evidence: WBPaper00001192
          Curator_confirmed: WBPerson2021
    Phenotype_not_observed: WBPhenotype:0001828 Paper_evidence: WBPaper00004325
        Curator_confirmed: WBPerson2021
        Remark: smg-1 homozygotes behaved like WT worms and did not recover from RNAi at all Paper_evidence: WBPaper00004325
            Curator_confirmed: WBPerson2021
        Phenotype_assay: Treatment: RNAi injection Paper_evidence: WBPaper00004325
              Curator_confirmed: WBPerson2021
  Reference (12)
  Remark
  Method: Substitution_allele