WormBase Tree Display for Variation: WBVar00241149

WBVar00241149 Evidence: Paper_evidence: WBPaper00004450
  Name: Public_name: q519
    Other_name: K04D7.5b.1:c.684T>A
      K04D7.5a.1:c.684T>A
      CE40976:p.Tyr228Ter
      CE35579:p.Tyr228Ter
    HGVSg: CHROMOSOME_IV:g.10198638T>A
  Sequence_details: SMap: S_parent: Sequence: K04D7
    Flanking_sequences: atcagaagacgttcagaacgaagaggatta gttttaaatatgactctgaatgatacacgt
    Mapping_target: K04D7
    Type_of_mutation: Substitution: t a
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00022572
    Laboratory: JK
    Status: Live
  Affects: Gene: WBGene00001653
    Transcript: K04D7.5a.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: K04D7.5a.1:c.684T>A
        HGVSp: CE35579:p.Tyr228Ter
        cDNA_position: 687
        CDS_position: 684
        Protein_position: 228
        Exon_number: 5/16
        Codon_change: taT/taA
        Amino_acid_change: Y/*
      K04D7.5b.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: K04D7.5b.1:c.684T>A
        HGVSp: CE40976:p.Tyr228Ter
        cDNA_position: 684
        CDS_position: 684
        Protein_position: 228
        Exon_number: 4/15
        Codon_change: taT/taA
        Amino_acid_change: Y/*
    Interactor: WBInteraction000538729
      WBInteraction000556203
      WBInteraction000556204
  Genetics: Interpolated_map_position: IV 4.55949
  Description: Phenotype_not_observed: WBPhenotype:0000306 Paper_evidence: WBPaper00026839
        Curator_confirmed: WBPerson2987
        Remark: "We also examined fkh-6::GFP expression in gon-4(RNAi) animals and gon-4(q519) mutants and found no defects (n = 26, Figure 6G)." Paper_evidence: WBPaper00026839
            Curator_confirmed: WBPerson2987
        EQ_annotations: Anatomy_term: WBbt:0007854 PATO:0000460 Paper_evidence: WBPaper00026839
                Curator_confirmed: WBPerson2987
        Phenotype_assay: Genotype: ezIs2 [fkh-6::GFP] Paper_evidence: WBPaper00026839
              Curator_confirmed: WBPerson2987
      WBPhenotype:0001968 Paper_evidence: WBPaper00026839
        Curator_confirmed: WBPerson2987
        Remark: "GFP::POP-1 localization was also not affected by gon-4(RNAi) (Figures 5K-5M)." (text and figure legend say gon-4(RNAi) but figure indicates it is the gon-4(q519) allele) Paper_evidence: WBPaper00026839
            Curator_confirmed: WBPerson2987
        EQ_annotations: Anatomy_term: WBbt:0007854 PATO:0000460 Paper_evidence: WBPaper00026839
                Curator_confirmed: WBPerson2987
          GO_term: GO:0008406 PATO:0000460 Paper_evidence: WBPaper00026839
                Curator_confirmed: WBPerson2987
  Reference: WBPaper00026839
    WBPaper00004450
  Method: Substitution_allele