WormBase Tree Display for Variation: WBVar00142975

WBVar00142975 Evidence: Paper_evidence: WBPaper00003757
  Name: Public_name: e120
    Other_name: F26C11.2.1:c.597+1G>A
    HGVSg: CHROMOSOME_II:g.9898071C>T
  Sequence_details: SMap: S_parent: Sequence: F26C11
    Flanking_sequences: cgaccaaatgcgaaatatcccagggttcag taatttgtttcgtatagtttttcgacaaatt
    Mapping_target: F26C11
    Type_of_mutation: Substitution: g a
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain (254)
    Laboratory: CB
    Status: Live
  Affects: Gene: WBGene00006744
    Transcript: F26C11.2.1 VEP_consequence: splice_donor_variant
        VEP_impact: HIGH
        HGVSc: F26C11.2.1:c.597+1G>A
        Intron_number: 6/7
    Interactor (16)
  Genetics (3)
  Description: Phenotype: WBPhenotype:0000164 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0000319 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Ease_of_scoring: ES3_Easy_to_score: Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000324 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0000352 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: Moves forward well but cannot back. Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000643 Paper_evidence: WBPaper00000031
        Curator_confirmed: WBPerson48
      WBPhenotype:0001510 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: Ventral cord VA motoneurons have normal anatomy but most have synaptic inputs appropriate to VB motoneurons. Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0005339 PATO:0000460 Person_evidence: WBPerson261
                Curator_confirmed: WBPerson712
      WBPhenotype:0001639 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0001716 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002134 Paper_evidence: WBPaper00039982
        Curator_confirmed: WBPerson712
        Remark: unc-4(e120) mutant animals escaped less frequently from constricting ring traps of Drechslerella spp.: D. dactyloides than wild-type animals. Paper_evidence: WBPaper00039982
            Curator_confirmed: WBPerson712
      WBPhenotype:0002284 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002288 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002293 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002294 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002300 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0002301 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:0002514 Paper_evidence: WBPaper00001826
        Curator_confirmed: WBPerson48777
        Remark: Table 2. All match full Unc-4 null movement phenotype Paper_evidence: WBPaper00001826
            Curator_confirmed: WBPerson48777
      WBPhenotype:0004022 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
      WBPhenotype:0004023 Paper_evidence: WBPaper00043908
        Curator_confirmed: WBPerson2987
    Phenotype_not_observed: WBPhenotype:0000641 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: Healthy, active. Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      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
  Reference (54)
  Remark: Manually curated Gene associations preserved as a text remark so that VEP is the canonical predictor of consequence: WBGene00006744 Donor
    Variation stub/paper connection generated from the May 2021 NN VFP dataset.
    Created by WBPerson51134 from the NN_VFP_triage_pipeline
  Method: Substitution_allele