WormBase Tree Display for Variation: WBVar00146611

WBVar00146611 Evidence: Paper_evidence: WBPaper00005216
  Name: Public_name: h510
    Other_name: B0025.1c.1:c.494G>A
      CE37691:p.Trp165Ter
      B0025.1a.1:c.506G>A
      CE24759:p.Trp169Ter
    HGVSg: CHROMOSOME_I:g.6029502G>A
  Sequence_details: SMap: S_parent: Sequence: B0025
    Flanking_sequences: cggatccatttgtaaaacaaccagaaacat gaaatattctgatgcatggggagatgaaat
    Mapping_target: B0025
    Type_of_mutation: Substitution: g a Paper_evidence: WBPaper00005216
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Laboratory: KR
    Status: Live
  Affects: Gene: WBGene00006932
    Transcript: B0025.1c.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: B0025.1c.1:c.494G>A
        HGVSp: CE37691:p.Trp165Ter
        cDNA_position: 496
        CDS_position: 494
        Protein_position: 165
        Exon_number: 3/7
        Codon_change: tGg/tAg
        Amino_acid_change: W/*
      B0025.1a.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: B0025.1a.1:c.506G>A
        HGVSp: CE24759:p.Trp169Ter
        cDNA_position: 508
        CDS_position: 506
        Protein_position: 169
        Exon_number: 3/8
        Codon_change: tGg/tAg
        Amino_acid_change: W/*
    Interactor: WBInteraction000557554
      WBInteraction000557555
      WBInteraction000557556
  Genetics: Interpolated_map_position: I 0.688511
  Description: Phenotype: WBPhenotype:0000243 Paper_evidence: WBPaper00054484
        Curator_confirmed: WBPerson7492
        Remark: polar body not engulfed by 6-cell stage Paper_evidence: WBPaper00054484
            Curator_confirmed: WBPerson7492
        EQ_annotations: GO_term: GO:0006909 PATO:0000460 Paper_evidence: WBPaper00054484
                Curator_confirmed: WBPerson7492
      WBPhenotype:0000436 Paper_evidence: WBPaper00054484
        Curator_confirmed: WBPerson7492
        Remark: CED-1 not localized to plasma membrane Paper_evidence: WBPaper00054484
            Curator_confirmed: WBPerson7492
        EQ_annotations: GO_term: GO:0008104 PATO:0000460 Paper_evidence: WBPaper00054484
                Curator_confirmed: WBPerson7492
      WBPhenotype:0000885 Paper_evidence: WBPaper00050047
        Curator_confirmed: WBPerson7492
        Remark: midbodies not phagocytosed Paper_evidence: WBPaper00050047
            Curator_confirmed: WBPerson7492
      WBPhenotype:0001846 Paper_evidence: WBPaper00050047
        Curator_confirmed: WBPerson7492
        Remark: LGG-2 not recruited to the midbody phagosome Paper_evidence: WBPaper00050047
            Curator_confirmed: WBPerson7492
      WBPhenotype:0001864 Paper_evidence: WBPaper00050047
        Curator_confirmed: WBPerson7492
        Remark: CED-1 not transported to plasma membrane Paper_evidence: WBPaper00050047
            Curator_confirmed: WBPerson7492
  Reference: WBPaper00005216
    WBPaper00050047
    WBPaper00054484
  Method: Substitution_allele