WormBase Tree Display for Variation: WBVar00146560

WBVar00146560 Evidence: Paper_evidence: WBPaper00045317
  Name: Public_name: h392
    Other_name: CE08098:p.Gln300Ter
      C10H11.9.1:c.898C>T
    HGVSg: CHROMOSOME_I:g.4742710G>A
  Sequence_details: SMap: S_parent: Sequence: C10H11
    Flanking_sequences: GGAGCCGCCGAGAGGAATTTCTTGATAATATCCTTGGCTT GGTAGAAATTAATGGCTCATCAGGAAATTTCAGACTTGTT
    Mapping_target: CHROMOSOME_I
    Source_location: 200 CHROMOSOME_I 4742711 4742711
    Type_of_mutation: Substitution: G A
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00023777
    Laboratory: KR
    Analysis: WGS_Rose
    Status: Live
  Affects: Gene: WBGene00002694
    Transcript: C10H11.9.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: C10H11.9.1:c.898C>T
        HGVSp: CE08098:p.Gln300Ter
        cDNA_position: 958
        CDS_position: 898
        Protein_position: 300
        Exon_number: 5/13
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
  Genetics: Interpolated_map_position: I -0.750344
  Description: Phenotype: WBPhenotype:0000062 Paper_evidence: WBPaper00040589
        Curator_confirmed: WBPerson712
      WBPhenotype:0000079 Paper_evidence: WBPaper00002726
        Curator_confirmed: WBPerson712
        Remark: Alae are often branched. Paper_evidence: WBPaper00002726
            Curator_confirmed: WBPerson712
        Penetrance: Incomplete: Paper_evidence: WBPaper00002726
              Curator_confirmed: WBPerson712
        Dominant: Paper_evidence: WBPaper00002726
          Curator_confirmed: WBPerson712
        Variation_effect: Dominant_negative_gain_of_function: Paper_evidence: WBPaper00002726
            Curator_confirmed: WBPerson712
        Maternal: With_maternal_effect: Paper_evidence: WBPaper00002726
            Curator_confirmed: WBPerson712
      WBPhenotype:0000116 Paper_evidence: WBPaper00003985
        Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: probable dominant negative Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000583 Paper_evidence: WBPaper00004448
          WBPaper00002726
        Curator_confirmed: WBPerson712
        Remark: weak dominant negative Paper_evidence: WBPaper00004448
            Curator_confirmed: WBPerson712
          Adult animals are shorter than normal. Paper_evidence: WBPaper00002726
            Curator_confirmed: WBPerson712
        Dominant: Paper_evidence: WBPaper00002726
          Curator_confirmed: WBPerson712
        Variation_effect: Dominant_negative_gain_of_function: Paper_evidence: WBPaper00004448
              WBPaper00002726
            Curator_confirmed: WBPerson712
        Maternal: With_maternal_effect: Paper_evidence: WBPaper00002726
            Curator_confirmed: WBPerson712
      WBPhenotype:0000645 Paper_evidence: WBPaper00002726
        Curator_confirmed: WBPerson712
        Remark: Adult animals often show a rolling phenotype. Paper_evidence: WBPaper00002726
            Curator_confirmed: WBPerson712
        Penetrance: Incomplete: Paper_evidence: WBPaper00002726
              Curator_confirmed: WBPerson712
        Dominant: Paper_evidence: WBPaper00002726
          Curator_confirmed: WBPerson712
        Variation_effect: Dominant_negative_gain_of_function: Paper_evidence: WBPaper00002726
            Curator_confirmed: WBPerson712
        Maternal: With_maternal_effect: Paper_evidence: WBPaper00002726
            Curator_confirmed: WBPerson712
      WBPhenotype:0000688 Paper_evidence: WBPaper00004448
          WBPaper00002726
        Curator_confirmed: WBPerson712
        Remark: adult sterile, weak dominant Paper_evidence: WBPaper00004448
            Curator_confirmed: WBPerson712
          Considered a weak phenotype for this gene. Paper_evidence: WBPaper00002726
            Curator_confirmed: WBPerson712
        Dominant: Paper_evidence: WBPaper00002726
          Curator_confirmed: WBPerson712
        Variation_effect: Dominant_negative_gain_of_function: Paper_evidence: WBPaper00002726
            Curator_confirmed: WBPerson712
        Maternal: With_maternal_effect: Paper_evidence: WBPaper00002726
            Curator_confirmed: WBPerson712
      WBPhenotype:0000812 Paper_evidence: WBPaper00002726
        Curator_confirmed: WBPerson712
        Remark: The germ line appears disorganized, but occasional oocytes and dead embryos can be detected. Paper_evidence: WBPaper00002726
            Curator_confirmed: WBPerson712
        Dominant: Paper_evidence: WBPaper00002726
          Curator_confirmed: WBPerson712
        Variation_effect: Dominant_negative_gain_of_function: Paper_evidence: WBPaper00002726
            Curator_confirmed: WBPerson712
        Maternal: With_maternal_effect: Paper_evidence: WBPaper00002726
            Curator_confirmed: WBPerson712
  Reference: WBPaper00040589
    WBPaper00004448
    WBPaper00000975
    WBPaper00002726
    WBPaper00003985
    WBPaper00014921
    WBPaper00017296
    WBPaper00000699
    WBPaper00045317
  Method: Substitution_allele