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: 169
        174
        535
        612
        619
        1202
        1203
        1205
        1328
        1329
        1337
        1351
        1538
        1539
        1589
        1638
        1739
        2005
        2059
        3123
        3125
        3127
      In_pos_neg_data: 1833
        1835
        1856
        1876
        1891
        1915
        1931
        1947
        1963
        1979
        1995
        2002
        2011
        2022
        2043
  Description: Phenotype: WBPhenotype:0000002 Paper_evidence: WBPaper00001709
        Person_evidence: WBPerson261
        Curator_confirmed: WBPerson2021
          WBPerson712
        Remark: kinky Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000017 Paper_evidence: WBPaper00038267
        Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: Rescued by UNC-18 with Asn144 or Glu378 mutations. Paper_evidence: WBPaper00038267
            Curator_confirmed: WBPerson712
          Ric Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000019 Paper_evidence: WBPaper00001709
        Curator_confirmed: WBPerson2021
        EQ_annotations: Anatomy_term: WBbt:0003681 PATO:0000460 Paper_evidence: WBPaper00001709
                Curator_confirmed: WBPerson2021
      WBPhenotype:0000020 Paper_evidence: WBPaper00001709
        Curator_confirmed: WBPerson2021
        EQ_annotations: Anatomy_term: WBbt:0003681 PATO:0000460 Paper_evidence: WBPaper00001709
                Curator_confirmed: WBPerson2021
      WBPhenotype:0000164 Paper_evidence: WBPaper00043908
        Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
          WBPerson2987
        Remark: thin at all stages Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000324 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0000436 Paper_evidence: WBPaper00028886
        Curator_confirmed: WBPerson48
        Remark: Localization of the synaptic protein SNB-1 is weakly abnormal, based on expression analysis of SNB-1::VENUS. Paper_evidence: WBPaper00028886
            Curator_confirmed: WBPerson48
      WBPhenotype:0000507 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: elevated levels of acetylcholine Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000643 Paper_evidence: WBPaper00032378
        Person_evidence: WBPerson6467
        Curator_confirmed: WBPerson712
          WBPerson8908
        Remark: virtually paralysed Paper_evidence: WBPaper00032378
            Curator_confirmed: WBPerson8908
      WBPhenotype:0000644 Paper_evidence: WBPaper00000031
          WBPaper00001709
        Person_evidence: WBPerson261
        Curator_confirmed: WBPerson48
          WBPerson2021
          WBPerson712
        Ease_of_scoring: ES3_Easy_to_score: Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0001639 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0001716 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002284 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002289 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002292 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002295 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002300 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002302 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002308 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002312 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002323 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002336 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002344 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002347 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002382 Paper_evidence: WBPaper00048427
        Curator_confirmed: WBPerson11689
        Phenotype_assay: Genotype: dvIs19 [Pgst-4::GFP::NLS] Paper_evidence: WBPaper00048427
              Curator_confirmed: WBPerson11689
      WBPhenotype:0004022 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0004023 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
    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: WBPaper00038267
    WBPaper00040284
    WBPaper00043908
    WBPaper00029020
    WBPaper00001709
    WBPaper00028886
    WBPaper00032446
    WBPaper00000031
    WBPaper00004883
    WBPaper00013904
    WBPaper00025822
    WBPaper00017045
    WBPaper00032378
    WBPaper00048427
    WBPaper00050142
    WBPaper00065262
  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