WormBase Tree Display for Variation: WBVar00146522

WBVar00146522 Evidence: Paper_evidence: WBPaper00003548
  Name: Public_name: h289
    Other_name: B0207.4.2:c.630G>A
      CE24761:p.Trp210Ter
      B0207.4.1:c.630G>A
    HGVSg: CHROMOSOME_I:g.5938301G>A
  Sequence_details: SMap: S_parent: Sequence: B0207
    Flanking_sequences: TGGTGAATGGAGCCGATCACAGTGACGCAGTTGACTTATG GCAATCGGCGTTCTCTGCTATGAGTTTCTCGTTGGAAAAC
    Mapping_target: CHROMOSOME_I
    Source_location: 200 CHROMOSOME_I 5938303 5938303
    Type_of_mutation: Substitution: G A
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00023752
    Laboratory: KR
    Analysis: WGS_Rose
    Status: Live
  Affects: Gene: WBGene00000099
    Transcript: B0207.4.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: B0207.4.1:c.630G>A
        HGVSp: CE24761:p.Trp210Ter
        cDNA_position: 637
        CDS_position: 630
        Protein_position: 210
        Exon_number: 5/7
        Codon_change: tgG/tgA
        Amino_acid_change: W/*
      B0207.4.2 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: B0207.4.2:c.630G>A
        HGVSp: CE24761:p.Trp210Ter
        cDNA_position: 711
        CDS_position: 630
        Protein_position: 210
        Exon_number: 6/8
        Codon_change: tgG/tgA
        Amino_acid_change: W/*
  Genetics: Interpolated_map_position: I 0.482348
    Mapping_data: In_2_point: 5225
        5226
      In_pos_neg_data (12)
  Description: Phenotype (6)
    Phenotype_not_observed: WBPhenotype:0000670 Paper_evidence: WBPaper00002829
        Curator_confirmed: WBPerson712
        Remark: none of the sterile mutants were rescued by wild-type sperm, thereforenone of them had defects in spermatogenesis alone. Paper_evidence: WBPaper00002829
            Curator_confirmed: WBPerson712
        Recessive: Paper_evidence: WBPaper00002829
          Curator_confirmed: WBPerson712
        EQ_annotations: Life_stage: WBls:0000041 PATO:0000460 Paper_evidence: WBPaper00002829
                Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: dpy-5 unc-13; sDp2 Paper_evidence: WBPaper00002829
              Curator_confirmed: WBPerson712
  Reference: WBPaper00040589
    WBPaper00003548
    WBPaper00002829
    WBPaper00000975
    WBPaper00003985
    WBPaper00000699
    WBPaper00045317
  Method: Substitution_allele