WormBase Tree Display for Variation: WBVar00143874

WBVar00143874 Evidence: Paper_evidence: WBPaper00037788
  Name: Public_name: e1265
    Other_name: C52E12.2a.1:c.4489G>A
      C52E12.2b.1:c.4621G>A
      CE48050:p.Asp1497Asn
      C52E12.2a.2:c.4489G>A
      CE47855:p.Asp1541Asn
    HGVSg: CHROMOSOME_II:g.7009630G>A
  Sequence_details: SMap: S_parent: Sequence: C52E12
    Flanking_sequences: ccatatattcttttattccgtgatgatcga atttggttattcgaggaatcattaatctgg
    Mapping_target: C52E12
    Type_of_mutation: Substitution: g a Paper_evidence: WBPaper00037788
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00004283
      WBStrain00007435
      WBStrain00023451
      WBStrain00027316
      WBStrain00029041
      WBStrain00040211
      WBStrain00047182
      WBStrain00050611
      WBStrain00057260
    Laboratory: CB
      MTS
    Status: Live
  Affects: Gene: WBGene00006831
    Transcript: C52E12.2a.2 (12)
      C52E12.2b.1 (12)
      C52E12.2a.1 (12)
    Interactor (44)
  Genetics: Interpolated_map_position: II 0.260775
    Mapping_data: In_2_point: 948
        3709
      In_multi_point: 437
        1360
        1473
        1474
        1718
        2073
        2310
        2311
      In_pos_neg_data: 544
        548
        554
        597
        619
        4514
  Description: Phenotype (34)
    Phenotype_not_observed: WBPhenotype:0000679 Paper_evidence: WBPaper00028448
        Curator_confirmed: WBPerson712
        Remark: PKD-2::GFP localization is not different from wild type. Paper_evidence: WBPaper00028448
            Curator_confirmed: WBPerson712
      WBPhenotype:0000847 Paper_evidence: WBPaper00032993
        Curator_confirmed: WBPerson2021
        Remark: RSY-1DSR localization to presynaptic sites was not affected in unc-104 mutants, suggesting that RSY-1 is not associated with synaptic vesicles. Paper_evidence: WBPaper00032993
            Curator_confirmed: WBPerson2021
      WBPhenotype:0000962 Paper_evidence: WBPaper00039901
        Curator_confirmed: WBPerson712
        Remark: The expression level of odr-3p::GFP in the AWC cell body is not significantly different between wild-type animals and unc-104(e1265) mutants. Paper_evidence: WBPaper00039901
            Curator_confirmed: WBPerson712
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00039901
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0005672 PATO:0000460 Paper_evidence: WBPaper00039901
                Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: [str-2p::GFP] Paper_evidence: WBPaper00039901
              Curator_confirmed: WBPerson712
      WBPhenotype:0001426 Paper_evidence: WBPaper00004883
        Curator_confirmed: WBPerson712
        Variation_effect: Hypomorph_reduction_of_function: 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:0001661 Paper_evidence: WBPaper00003760
          WBPaper00039901
        Curator_confirmed: WBPerson2021
          WBPerson712
        Remark: Asymmetric expression in AWC was normal Paper_evidence: WBPaper00003760
            Curator_confirmed: WBPerson2021
          unc-104(e1265) mutants did not show a 2AWC-ON phenotype. Paper_evidence: WBPaper00039901
            Curator_confirmed: WBPerson712
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00039901
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0005672 PATO:0000460 Paper_evidence: WBPaper00039901
                Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: [str-2p::GFP] Paper_evidence: WBPaper00039901
              Curator_confirmed: WBPerson712
  Reference (34)
  Remark: Variation stub/paper connection generated from the May 2021 NN VFP dataset.
    Created by WBPerson51134 from the NN_VFP_triage_pipeline
  Method: Substitution_allele