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: WBInteraction000501319
      WBInteraction000501720
      WBInteraction000501723
      WBInteraction000501738
      WBInteraction000501849
      WBInteraction000501850
      WBInteraction000501851
      WBInteraction000502385
      WBInteraction000502607
      WBInteraction000502710
      WBInteraction000502713
      WBInteraction000502717
      WBInteraction000502942
      WBInteraction000503385
      WBInteraction000503407
      WBInteraction000503408
      WBInteraction000503496
      WBInteraction000503850
      WBInteraction000504523
      WBInteraction000504810
      WBInteraction000504820
      WBInteraction000504839
      WBInteraction000504994
      WBInteraction000504995
      WBInteraction000504996
      WBInteraction000517570
      WBInteraction000517571
      WBInteraction000518364
      WBInteraction000518366
      WBInteraction000518367
      WBInteraction000518368
      WBInteraction000518369
      WBInteraction000518370
      WBInteraction000518558
      WBInteraction000518560
      WBInteraction000518561
      WBInteraction000555204
      WBInteraction000555266
      WBInteraction000555722
      WBInteraction000555723
      WBInteraction000555724
      WBInteraction000555725
      WBInteraction000555752
      WBInteraction000557067
  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