WormBase Tree Display for Variation: WBVar00090924

WBVar00090924 Evidence: Paper_evidence: WBPaper00005278
  Name: Public_name: nc1
    Other_name: C37A5.9.1:c.142C>T
      CE30125:p.Arg48Ter
    HGVSg: CHROMOSOME_I:g.14178319G>A
  Sequence_details: SMap: S_parent: Sequence: C37A5
    Flanking_sequences: gacttgttcttcgcaatccgagcatacgaa gaatggcgttggagggaaaaccggaggtat
    Mapping_target: C37A5
    Type_of_mutation: Substitution: c t
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Laboratory: ST
    Status: Live
  Affects: Gene: WBGene00004202
    Transcript: C37A5.9.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: C37A5.9.1:c.142C>T
        HGVSp: CE30125:p.Arg48Ter
        cDNA_position: 146
        CDS_position: 142
        Protein_position: 48
        Exon_number: 3/14
        Codon_change: Cga/Tga
        Amino_acid_change: R/*
  Genetics: Interpolated_map_position: I 23.6241
  Description: Phenotype: WBPhenotype:0000062 Paper_evidence: WBPaper00005278
        Curator_confirmed: WBPerson2987
        Remark: "This transgene fully rescued the lethality, the multivulva phenotype, and the QR.d migration defect of pry-1(mu38 and nc1)." Paper_evidence: WBPaper00005278
            Curator_confirmed: WBPerson2987
        Rescued_by_transgene: WBTransgene00000302
      WBPhenotype:0000469 Paper_evidence: WBPaper00003383
          WBPaper00005278
        Curator_confirmed: WBPerson2987
        Remark: pry-1(nc1) causes 40% of descendants of the QR neuroblast to stay in the posterior of the animal, as opposed to migrating anteriorly as in wild type animals (Table 1). Paper_evidence: WBPaper00003383
            Curator_confirmed: WBPerson2987
          "This transgene fully rescued the lethality, the multivulva phenotype, and the QR.d migration defect of pry-1(mu38 and nc1)." Paper_evidence: WBPaper00005278
            Curator_confirmed: WBPerson2987
        Rescued_by_transgene: WBTransgene00000302
        EQ_annotations: Anatomy_term: WBbt:0004054 PATO:0000460 Paper_evidence: WBPaper00003383
                  WBPaper00005278
                Curator_confirmed: WBPerson2987
          Life_stage: WBls:0000024 PATO:0000460 Paper_evidence: WBPaper00003383
                Curator_confirmed: WBPerson2987
      WBPhenotype:0000700 Paper_evidence: WBPaper00005278
        Curator_confirmed: WBPerson2987
        Remark: "This transgene fully rescued the lethality, the multivulva phenotype, and the QR.d migration defect of pry-1(mu38 and nc1)." Paper_evidence: WBPaper00005278
            Curator_confirmed: WBPerson2987
        Rescued_by_transgene: WBTransgene00000302
        EQ_annotations: Anatomy_term: WBbt:0006748 PATO:0000460 Paper_evidence: WBPaper00005278
                Curator_confirmed: WBPerson2987
    Phenotype_not_observed: WBPhenotype:0001278 Paper_evidence: WBPaper00057074
        Curator_confirmed: WBPerson712
        Remark: neurons did not show a loss in unc-25::GFP expression Paper_evidence: WBPaper00057074
            Curator_confirmed: WBPerson712
        Image: WBPicture0000014913 Paper_evidence: WBPaper00057074
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0005027 PATO:0000460 Paper_evidence: WBPaper00057074
                Curator_confirmed: WBPerson712
            WBbt:0005021 PATO:0000460 Paper_evidence: WBPaper00057074
                Curator_confirmed: WBPerson712
  Reference: WBPaper00005278
    WBPaper00003383
    WBPaper00057074
  Method: Substitution_allele