WormBase Tree Display for Variation: WBVar01473941

WBVar01473941 Name: Public_name: yb1701
    Other_name: CE50882:p.Gln293Ter
      CE36103:p.Gln293Ter
      CE50761:p.Gln195Ter
      CE50818:p.Gln195Ter
      C17D12.2a.1:c.877C>T
      C17D12.2b.1:c.877C>T
      C17D12.2c.1:c.583C>T
      C17D12.2d.1:c.583C>T
    HGVSg: CHROMOSOME_I:g.11598200C>T
  Sequence_details: SMap: S_parent: Sequence: C17D12
    Flanking_sequences: GCCCAGGCAGCAGCAAACCCAGTTTTATCC AACAAACTCAACAGCAACAACAACAGCAAC
    Mapping_target: C17D12
    Type_of_mutation: Substitution: c t
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00023513
    Laboratory: KH
    Status: Live
  Affects: Gene: WBGene00006807
    Transcript: C17D12.2c.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: C17D12.2c.1:c.583C>T
        HGVSp: CE50818:p.Gln195Ter
        cDNA_position: 583
        CDS_position: 583
        Protein_position: 195
        Exon_number: 3/6
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
      C17D12.2b.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: C17D12.2b.1:c.877C>T
        HGVSp: CE50882:p.Gln293Ter
        cDNA_position: 877
        CDS_position: 877
        Protein_position: 293
        Exon_number: 6/8
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
      C17D12.2a.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: C17D12.2a.1:c.877C>T
        HGVSp: CE36103:p.Gln293Ter
        cDNA_position: 933
        CDS_position: 877
        Protein_position: 293
        Exon_number: 7/11
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
      C17D12.2d.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: C17D12.2d.1:c.583C>T
        HGVSp: CE50761:p.Gln195Ter
        cDNA_position: 583
        CDS_position: 583
        Protein_position: 195
        Exon_number: 3/5
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
  Isolation: Mutagen: EMS
  Genetics: Interpolated_map_position: I 9.28472
  Description: Phenotype: WBPhenotype:0000643 Person_evidence: WBPerson1686
        Curator_confirmed: WBPerson712
        Remark: Unc Person_evidence: WBPerson1686
            Curator_confirmed: WBPerson712
        Penetrance: Complete: Person_evidence: WBPerson1686
              Curator_confirmed: WBPerson712
        Recessive: Person_evidence: WBPerson1686
          Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: KH1701 unc-75 (yb1695) I; ybIs1622 [rgef-1::unc-32E7a-EGFP rgef-1::unc-32E7b-mRFP lin-15(+)]/+ Person_evidence: WBPerson1686
              Curator_confirmed: WBPerson712
      WBPhenotype:0002119 Person_evidence: WBPerson1686
        Curator_confirmed: WBPerson712
        Remark: The ybIs1622 unc-32 exon 7 alternative splicing reporter expresses Green in the wild-type background but Red in this mutant. Person_evidence: WBPerson1686
            Curator_confirmed: WBPerson712
        Penetrance: Complete: Person_evidence: WBPerson1686
              Curator_confirmed: WBPerson712
        Recessive: Person_evidence: WBPerson1686
          Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: KH1701 unc-75 (yb1695) I; ybIs1622 [rgef-1::unc-32E7a-EGFP rgef-1::unc-32E7b-mRFP lin-15(+)]/+ Person_evidence: WBPerson1686
              Curator_confirmed: WBPerson712
  Method: Substitution_allele