WormBase Tree Display for Variation: WBVar00142951

WBVar00142951 Evidence: Paper_evidence: WBPaper00003560
  Name: Public_name: e81
    Other_name: CE24927:p.Gln520Ter
      F27D9.1a.1:c.1558C>T
    HGVSg: CHROMOSOME_X:g.7685018C>T
  Sequence_details: SMap: S_parent: Sequence: C53C9
    Flanking_sequences: ttcagagcccctgcatctgctagatatggt agtggcacaaggaacgaggacaacaatcca
    Mapping_target: C53C9
    Type_of_mutation: Substitution: c t Paper_evidence: WBPaper00003560
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00004094
      WBStrain00007165
      WBStrain00026732
      WBStrain00026853
      WBStrain00030690
      WBStrain00033537
    Laboratory: CB
    Status: Live
  Affects: Gene: WBGene00006757
    Transcript: F27D9.1a.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: F27D9.1a.1:c.1558C>T
        HGVSp: CE24927:p.Gln520Ter
        cDNA_position: 1594
        CDS_position: 1558
        Protein_position: 520
        Exon_number: 10/11
        Codon_change: Cag/Tag
        Amino_acid_change: Q/*
    Interactor: WBInteraction000503689
      WBInteraction000504904
      WBInteraction000517392
      WBInteraction000518362
  Genetics: Interpolated_map_position: X -1.34794
    Mapping_data: In_2_point: 149
        724
        3663
        4569
        4571
      In_multi_point (22)
      In_pos_neg_data (15)
  Description: Phenotype (27)
    Phenotype_not_observed: WBPhenotype:0000062 Person_evidence: WBPerson6467
        Curator_confirmed: WBPerson712
      WBPhenotype:0000640 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: able to lay eggs Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0001278 Paper_evidence: WBPaper00050142
        Curator_confirmed: WBPerson2987
        Remark: "In contrast, mutations that block small molecule neurosecretion, unc-13(e1091) or unc-18(e81), had no effect on the mitochondrial stress response to polyQ40 expression in the nervous system (Figure 4A)." Paper_evidence: WBPaper00050142
            Curator_confirmed: WBPerson2987
        EQ_annotations: GO_term: GO:0034514 PATO:0000460 Paper_evidence: WBPaper00050142
                Curator_confirmed: WBPerson2987
        Phenotype_assay: Genotype: rmIs101 [rgef-1p::Q40::YFP]; zcIs13 [hsp-6p::GFP] Paper_evidence: WBPaper00050142
              Curator_confirmed: WBPerson2987
      WBPhenotype:0001426 Paper_evidence: WBPaper00004883
        Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: arIs37 Paper_evidence: WBPaper00004883
              Curator_confirmed: WBPerson712
      WBPhenotype:0001645 Paper_evidence: WBPaper00040284
        Curator_confirmed: WBPerson2987
        Remark: Table S2 Paper_evidence: WBPaper00040284
            Curator_confirmed: WBPerson2987
      WBPhenotype:0001652 Paper_evidence: WBPaper00032446
        Curator_confirmed: WBPerson2021
  Reference (16)
  Remark: Sequencing of the CB81 strain indicates that this mutation is a Q520stop, not Q530stop as described in the paper. Person_evidence: WBPerson6467
  Method: Substitution_allele