WormBase Tree Display for Variation: WBVar00144279

WBVar00144279 Evidence: Paper_evidence: WBPaper00004442
  Name: Public_name: e1750
    Other_name: CE12098:p.Trp57Ter
      K10G6.1.1:c.170G>A
    HGVSg: CHROMOSOME_II:g.3983457G>A
  Sequence_details: SMap: S_parent: Sequence: K10G6
    Flanking_sequences: aaatcagctcaaaatgtaatgttttcaggt gcaaaactccctgcgacacaacttgtcatt
    Mapping_target: K10G6
    Type_of_mutation: Substitution: g a Paper_evidence: WBPaper00004442
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Laboratory: CB
    Status: Live
  Affects: Gene: WBGene00003017
    Transcript: K10G6.1.1 VEP_consequence: stop_gained,splice_region_variant
        VEP_impact: HIGH
        HGVSc: K10G6.1.1:c.170G>A
        HGVSp: CE12098:p.Trp57Ter
        cDNA_position: 275
        CDS_position: 170
        Protein_position: 57
        Exon_number: 3/6
        Codon_change: tGg/tAg
        Amino_acid_change: W/*
  Isolation: Mutagen: EMS Paper_evidence: WBPaper00004442
  Genetics: Interpolated_map_position: II -5.88222
  Description: Phenotype: WBPhenotype:0000700 Paper_evidence: WBPaper00000762
        Curator_confirmed: WBPerson2021
        Remark: Vulva is non-functional in some lin-31 hermaphrodites, which results in a bag of worms phenotype Paper_evidence: WBPaper00000762
            Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00000762
          Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000057 PATO:0000460 Paper_evidence: WBPaper00000762
                Curator_confirmed: WBPerson2021
      WBPhenotype:0001414 Paper_evidence: WBPaper00000762
        Curator_confirmed: WBPerson2021
        Remark: male mating is completely abolished Paper_evidence: WBPaper00000762
            Curator_confirmed: WBPerson2021
        Penetrance: High: Paper_evidence: WBPaper00000762
              Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00000762
          Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000056 PATO:0000460 Paper_evidence: WBPaper00000762
                Curator_confirmed: WBPerson2021
        Phenotype_assay: Genotype: him-5(e1467) Paper_evidence: WBPaper00000762
              Curator_confirmed: WBPerson2021
  Reference: WBPaper00000762
  Method: Substitution_allele