WormBase Tree Display for Variation: WBVar00143154

WBVar00143154 Evidence: Paper_evidence: WBPaper00002050
  Name: Public_name: e369
    Other_name: Y60A3A.1.1:c.-2G>A
    HGVSg: CHROMOSOME_V:g.20004422C>T
  Sequence_details: SMap: S_parent: Sequence: Y60A3A
    Flanking_sequences: atagtcacacaataatcacccaacccagct aatggagcagtttgacggcttcgagtacag
    Mapping_target: Y60A3A
    Type_of_mutation: Substitution: g a Paper_evidence: WBPaper00002050
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain (21)
    Laboratory: CB
      DCD
    Status: Live
  Affects: Gene: WBGene00006786
    Transcript: Y60A3A.1.1 VEP_consequence: 5_prime_UTR_variant
        VEP_impact: MODIFIER
        HGVSc: Y60A3A.1.1:c.-2G>A
        cDNA_position: 64
        Exon_number: 1/11
    Interactor (21)
  Genetics: Interpolated_map_position: V 24.4355
    Mapping_data: In_2_point: 137
        254
        849
        3379
        3380
        6116
        6128
        7012
        7165
      In_multi_point (22)
      In_pos_neg_data: 298
        2143
  Description: Phenotype (19)
    Phenotype_not_observed: WBPhenotype:0000062 Paper_evidence: WBPaper00038332
        Curator_confirmed: WBPerson712
        Remark: lf mutations in unc-51 led to viable adults. Paper_evidence: WBPaper00038332
            Curator_confirmed: WBPerson712
      WBPhenotype:0000306 Paper_evidence: WBPaper00041269
        Curator_confirmed: WBPerson2987
        Remark: "To confirm that the autophagy pathway was not a major means of CPL-1(W32A;Y35A)::YFP disposal, we crossed Pnhx-2::cpl-1(W32A;Y35A)::YFP animals with an unc-51(e369) knockout strain to yield unc-51(e369);P-nhx-2::CPL-1(W32A;Y35A)::YFP; Pmyo-2::mCherry animals. Two independent lines were analyzed, and showed no significant differences in the level of CPL-1(W32A;Y35A)::YFP, as compared to the controls (Figure 6B)." Paper_evidence: WBPaper00041269
            Curator_confirmed: WBPerson2987
      WBPhenotype:0000436 Paper_evidence: WBPaper00028886
        Curator_confirmed: WBPerson48
        Remark: Localization of the synaptic protein SNB-1 is normal, based on expression analysis of SNB-1::VENUS. Paper_evidence: WBPaper00028886
            Curator_confirmed: WBPerson48
      WBPhenotype:0000688 Paper_evidence: WBPaper00038332
        Curator_confirmed: WBPerson712
        Remark: lf mutations in unc-51 led to fertile Paper_evidence: WBPaper00038332
            Curator_confirmed: WBPerson712
      WBPhenotype:0000885 Paper_evidence: WBPaper00050047
        Curator_confirmed: WBPerson7492
        Remark: midbody phagocytosis normal Paper_evidence: WBPaper00050047
            Curator_confirmed: WBPerson7492
      WBPhenotype:0001645 Paper_evidence: WBPaper00040284
        Curator_confirmed: WBPerson2987
        Remark: Table 1 Paper_evidence: WBPaper00040284
            Curator_confirmed: WBPerson2987
      WBPhenotype:0001652 Paper_evidence: WBPaper00032446
        Curator_confirmed: WBPerson2021
      WBPhenotype:0001846 Paper_evidence: WBPaper00050047
        Curator_confirmed: WBPerson7492
        Remark: midbody phagosome maturation normal Paper_evidence: WBPaper00050047
            Curator_confirmed: WBPerson7492
  Reference: WBPaper00038332
    WBPaper00040284
    WBPaper00040312
    WBPaper00041209
    WBPaper00041269
    WBPaper00041694
    WBPaper00031671
    WBPaper00028886
    WBPaper00032446
    WBPaper00000031
    WBPaper00013927
    WBPaper00015529
    WBPaper00013827
    WBPaper00027335
    WBPaper00001105
    WBPaper00016121
    WBPaper00016260
    WBPaper00017706
    WBPaper00013783
    WBPaper00002050
    WBPaper00014553
    WBPaper00014407
    WBPaper00050047
    WBPaper00055078
    WBPaper00065980
  Remark: e369 is a coupled mutation. In addition to the curated lesion there is a CAG to TAG substitution with flanking sequences agccgacgattcatgagaatgagccgttgg taatgcaaagtatcagcagacggatgttaa Paper_evidence: WBPaper00002050
  Method: Substitution_allele