WormBase Tree Display for Variation: WBVar00242198

WBVar00242198 Evidence: Person_evidence: WBPerson43879
  Name: Public_name: s1733
    Other_name: C29E6.1b.1:c.750T>A
      C29E6.1c.1:c.750T>A
      C29E6.1a.1:c.750T>A
      CE37323:p.Cys250Ter
      CE40548:p.Cys250Ter
      CE05332:p.Cys250Ter
    HGVSg: CHROMOSOME_IV:g.11886885T>A
  Sequence_details: SMap: S_parent: Sequence: C29E6
    Flanking_sequences: catttatggactttatgacttcttcacttg cggactgaaccaaaagaagccactgaattc
    Mapping_target: C29E6
    Type_of_mutation: Substitution: t a
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain (11)
    Laboratory: BC
    Person: WBPerson43879
    Status: Live
  Affects: Gene: WBGene00002827
    Transcript: C29E6.1b.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: C29E6.1b.1:c.750T>A
        HGVSp: CE37323:p.Cys250Ter
        cDNA_position: 755
        CDS_position: 750
        Protein_position: 250
        Exon_number: 5/11
        Codon_change: tgT/tgA
        Amino_acid_change: C/*
      C29E6.1a.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: C29E6.1a.1:c.750T>A
        HGVSp: CE40548:p.Cys250Ter
        cDNA_position: 753
        CDS_position: 750
        Protein_position: 250
        Exon_number: 5/12
        Codon_change: tgT/tgA
        Amino_acid_change: C/*
      C29E6.1c.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: C29E6.1c.1:c.750T>A
        HGVSp: CE05332:p.Cys250Ter
        cDNA_position: 750
        CDS_position: 750
        Protein_position: 250
        Exon_number: 4/10
        Codon_change: tgT/tgA
        Amino_acid_change: C/*
  Isolation: Mutagen: EMS
    Forward_genetics: standard phenotypic screen
  Genetics: Interpolated_map_position: IV 5.36499
    Mapping_data: In_pos_neg_data (18)
  Description: Phenotype: WBPhenotype:0000057 Paper_evidence: WBPaper00001522
        Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: early larval lethal, arrest stage is late L1 to early L2 Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
          Early larval lethal arrest over sDf2 Paper_evidence: WBPaper00001522
            Curator_confirmed: WBPerson712
      WBPhenotype:0000411 Paper_evidence: WBPaper00049934
        Curator_confirmed: WBPerson43879
        Penetrance: Complete: Paper_evidence: WBPaper00049934
              Curator_confirmed: WBPerson43879
        Recessive: Paper_evidence: WBPaper00049934
          Curator_confirmed: WBPerson43879
        Variation_effect: Null: Paper_evidence: WBPaper00049934
            Curator_confirmed: WBPerson43879
        Phenotype_assay: Control_strain: WBStrain00000001 Paper_evidence: WBPaper00049934
              Curator_confirmed: WBPerson43879
      WBPhenotype:0000704 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: cystic excretory canals Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000858 Paper_evidence: WBPaper00049934
        Curator_confirmed: WBPerson43879
        Remark: Figure 1. excretory dilation in duct cell Paper_evidence: WBPaper00049934
            Curator_confirmed: WBPerson43879
        Penetrance: Complete: Paper_evidence: WBPaper00049934
              Curator_confirmed: WBPerson43879
        Recessive: Paper_evidence: WBPaper00049934
          Curator_confirmed: WBPerson43879
        Variation_effect: Null: Paper_evidence: WBPaper00049934
            Curator_confirmed: WBPerson43879
        Phenotype_assay: Control_strain: WBStrain00000001 Paper_evidence: WBPaper00049934
              Curator_confirmed: WBPerson43879
  Reference: WBPaper00014024
    WBPaper00001522
    WBPaper00030687
    WBPaper00049934
  Remark: alt_det = c to t mut_det = C(250)Opal
    [pad] reported as a c->t mutation but C(250) TGT can only transition to Amber_UGA Stop at the reported position.
    Manually curated Gene associations preserved as a text remark so that VEP is the canonical predictor of consequence: WBGene00002827 Opal_UGA C(250) to stop
  Method: Substitution_allele