WormBase Tree Display for Variation: WBVar00248884

WBVar00248884 Evidence: Paper_evidence: WBPaper00001404
    Person_evidence: WBPerson625
  Name: Public_name: sy1
    Other_name: CE03840:p.Gln1318Ter
      ZK1067.1a.1:c.3952C>T
      ZK1067.1d.1:c.3988C>T
      CE50411:p.Gln1330Ter
      CE42910:p.Gln1323Ter
      CE42891:p.Gln1257Ter
      ZK1067.1c.1:c.3967C>T
      ZK1067.1b.1:c.3769C>T
    HGVSg: CHROMOSOME_II:g.9206918C>T
  Sequence_details: SMap: S_parent: Sequence: ZK1067
    Flanking_sequences: gcagttcaatatgaaaatgaagaagtatca aaaaggaaacttgtctttaacttttcgaac
    Mapping_target: ZK1067
    Type_of_mutation: Substitution: C T
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00030806
      WBStrain00030807
      WBStrain00030808
      WBStrain00030820
      WBStrain00030836
    Component_of_genotype: WBGenotype00000109
      WBGenotype00000110
      WBGenotype00000111
      WBGenotype00000112
      WBGenotype00000113
      WBGenotype00000114
    Laboratory: PS
    Author: Sternberg P
      Aroian R
    Status: Live
  Affects: Gene: WBGene00002299
    Transcript: ZK1067.1d.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: ZK1067.1d.1:c.3988C>T
        HGVSp: CE50411:p.Gln1330Ter
        cDNA_position: 3994
        CDS_position: 3988
        Protein_position: 1330
        Exon_number: 20/21
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
      ZK1067.1b.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: ZK1067.1b.1:c.3769C>T
        HGVSp: CE42891:p.Gln1257Ter
        cDNA_position: 3769
        CDS_position: 3769
        Protein_position: 1257
        Exon_number: 16/16
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
      ZK1067.1c.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: ZK1067.1c.1:c.3967C>T
        HGVSp: CE42910:p.Gln1323Ter
        cDNA_position: 3967
        CDS_position: 3967
        Protein_position: 1323
        Exon_number: 18/19
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
      ZK1067.1a.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: ZK1067.1a.1:c.3952C>T
        HGVSp: CE03840:p.Gln1318Ter
        cDNA_position: 4041
        CDS_position: 3952
        Protein_position: 1318
        Exon_number: 19/20
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
    Interactor (13)
  Isolation: Mutagen: EMS
    Forward_genetics: F2 standard screen for non-Muv
  Genetics: Interpolated_map_position: II 1.09466
    Mapping_data: In_multi_point: 3220
        3221
        3222
  Description: Phenotype (5)
    Phenotype_not_observed: WBPhenotype:0000062 Paper_evidence: WBPaper00001404
        Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: viable Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000414 Paper_evidence: WBPaper00001404
        Curator_confirmed: WBPerson712
        Remark: Animals have 100% wild-type P12 as homozygotes. Animals exhibit low levels of P12-P11 cell transformations when in trans to other let-23 alleles. Paper_evidence: WBPaper00001404
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0004409 PATO:0000460 Paper_evidence: WBPaper00001404
                Curator_confirmed: WBPerson712
      WBPhenotype:0000443 Paper_evidence: WBPaper00001404
        Curator_confirmed: WBPerson712
      WBPhenotype:0000688 Paper_evidence: WBPaper00001404
        Curator_confirmed: WBPerson712
      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 (32)
  Remark: Isolated as suppressor of the Multivulva phenotype of lin-15(n309) in 1987 Person_evidence: WBPerson625
        WBPerson26
  Method: Substitution_allele