WormBase Tree Display for Variation: WBVar00090774

WBVar00090774 Evidence: Paper_evidence: WBPaper00029251
  Name: Public_name: n3809
    Other_name: R06C7.7a.1:c.475C>T
      R06C7.7b.1:c.838C>T
      CE37542:p.Gln159Ter
      CE31573:p.Gln280Ter
    HGVSg: CHROMOSOME_I:g.7250118G>A
  Sequence_details: SMap: S_parent: Sequence: R06C7
    Flanking_sequences: cagaattgcattgatggcgaaatcgtcggc aaacttcgctgtctccaaaattcgatgaag
    Mapping_target: R06C7
    Type_of_mutation: Substitution: c t Paper_evidence: WBPaper00029251
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00027399
      WBStrain00027401
      WBStrain00027402
      WBStrain00027403
      WBStrain00027404
    Laboratory: MT
    Status: Live
  Affects: Gene: WBGene00003041
    Transcript: R06C7.7b.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: R06C7.7b.1:c.838C>T
        HGVSp: CE31573:p.Gln280Ter
        cDNA_position: 838
        CDS_position: 838
        Protein_position: 280
        Exon_number: 5/7
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
      R06C7.7a.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: R06C7.7a.1:c.475C>T
        HGVSp: CE37542:p.Gln159Ter
        cDNA_position: 475
        CDS_position: 475
        Protein_position: 159
        Exon_number: 4/7
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
    Interactor: WBInteraction000504623
      WBInteraction000504629
      WBInteraction000541839
      WBInteraction000558597
  Genetics: Interpolated_map_position: I 1.85901
  Description: Phenotype: WBPhenotype:0000059 Paper_evidence: WBPaper00038168
        Curator_confirmed: WBPerson712
        Remark: Animals show weak larval arrest at 26 deg C. Paper_evidence: WBPaper00038168
            Curator_confirmed: WBPerson712
        Temperature_sensitive: Heat_sensitive: 26 Paper_evidence: WBPaper00038168
              Curator_confirmed: WBPerson712
      WBPhenotype:0000697 Paper_evidence: WBPaper00053212
        Curator_confirmed: WBPerson1984
        Remark: "Furthermore, during vulva development, we observed that ~19% of lag-1(RNAi) animals and ~11% of lin-61(n3809) mutants present a protruding vulva phenotype (Pvl), compared to only ~2% for the control (N2) animals." (Figure 6F) Paper_evidence: WBPaper00053212
            Curator_confirmed: WBPerson1984
        Penetrance: Low: 11% Paper_evidence: WBPaper00053212
              Curator_confirmed: WBPerson1984
        Phenotype_assay: Control_strain: WBStrain00000001 Paper_evidence: WBPaper00053212
              Curator_confirmed: WBPerson1984
      WBPhenotype:0001171 Paper_evidence: WBPaper00049368
        Curator_confirmed: WBPerson632
      WBPhenotype:0001276 Paper_evidence: WBPaper00044613
        Curator_confirmed: WBPerson24243
        Remark: VC1, VC2, VC3, and VC6 ectopically express the VC4/VC5-specific gene unc-4; uIs45 [unc-4p::MDM2::GFP] was used as the reporter for unc-4. Paper_evidence: WBPaper00044613
            Curator_confirmed: WBPerson24243
        EQ_annotations: Anatomy_term: WBbt:0004621 PATO:0000460 Paper_evidence: WBPaper00044613
                Curator_confirmed: WBPerson24243
            WBbt:0004619 PATO:0000460 Paper_evidence: WBPaper00044613
                Curator_confirmed: WBPerson24243
            WBbt:0004618 PATO:0000460 Paper_evidence: WBPaper00044613
                Curator_confirmed: WBPerson24243
            WBbt:0004611 PATO:0000460 Paper_evidence: WBPaper00044613
                Curator_confirmed: WBPerson24243
        Phenotype_assay: Genotype: uIs45 [unc-4p::MDM2::GFP] Paper_evidence: WBPaper00044613
              Curator_confirmed: WBPerson24243
      WBPhenotype:0001510 Paper_evidence: WBPaper00044613
        Curator_confirmed: WBPerson24243
        Remark: VC1, VC2, VC3, and VC6 ectopically express the VC4/VC5-specific gene unc-4; uIs45 [unc-4p::MDM2::GFP] was used as the reporter for unc-4. Paper_evidence: WBPaper00044613
            Curator_confirmed: WBPerson24243
        EQ_annotations: Anatomy_term: WBbt:0004621 PATO:0000460 Paper_evidence: WBPaper00044613
                Curator_confirmed: WBPerson24243
            WBbt:0004619 PATO:0000460 Paper_evidence: WBPaper00044613
                Curator_confirmed: WBPerson24243
            WBbt:0004618 PATO:0000460 Paper_evidence: WBPaper00044613
                Curator_confirmed: WBPerson24243
            WBbt:0004611 PATO:0000460 Paper_evidence: WBPaper00044613
                Curator_confirmed: WBPerson24243
        Phenotype_assay: Genotype: uIs45 [unc-4p::MDM2::GFP] Paper_evidence: WBPaper00044613
              Curator_confirmed: WBPerson24243
      WBPhenotype:0001938 Paper_evidence: WBPaper00042141
        Curator_confirmed: WBPerson8161
        Remark: lin-61 mutants manifest numerous problems associated with defective HR in germ and somatic cells but remain proficient in meiotic recombination. Paper_evidence: WBPaper00042141
            Curator_confirmed: WBPerson8161
  Reference: WBPaper00038168
    WBPaper00019686
    WBPaper00042141
    WBPaper00044613
    WBPaper00053212
    WBPaper00049368
  Method: Substitution_allele