WormBase Tree Display for Variation: WBVar00275215

WBVar00275215 Name: Public_name: x20
    Other_name: F21F3.5.1:c.199-1G>A
    HGVSg: CHROMOSOME_I:g.4900477C>T
  Sequence_details: SMap: S_parent: Sequence: F21F3
    Flanking_sequences: taatctttatctaatcttgaaccaatttca cacgagattgatcagattatgacgtgttcg
    Mapping_target: F21F3
    Type_of_mutation: Substitution: g a Person_evidence: WBPerson22169
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00030855
      WBStrain00033500
      WBStrain00033507
      WBStrain00040923
      WBStrain00040931
    Laboratory: ZZ
    Status: Live
  Affects: Gene: WBGene00006774
    Transcript: F21F3.5.1 VEP_consequence: splice_acceptor_variant
        VEP_impact: HIGH
        HGVSc: F21F3.5.1:c.199-1G>A
        Intron_number: 3/9
    Interactor: WBInteraction000502320
  Isolation: Reverse_genetics: PCR
  Genetics: Interpolated_map_position: I -0.649245
    Mapping_data: In_2_point: 243
        244
        524
      In_multi_point (13)
  Description: Phenotype: WBPhenotype:0000421 Paper_evidence: WBPaper00034730
          WBPaper00035548
          WBPaper00027611
        Curator_confirmed: WBPerson2021
          WBPerson712
        Remark: unc-38 mutants are resistant to levamisole Paper_evidence: WBPaper00034730
            Curator_confirmed: WBPerson2021
        Affected_by: Molecule: WBMol:00004019 Paper_evidence: WBPaper00034730
                WBPaper00027611
              Curator_confirmed: WBPerson2021
                WBPerson712
      WBPhenotype:0000562 Paper_evidence: WBPaper00000484
        Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00000484
          Curator_confirmed: WBPerson2021
        Affected_by: Molecule: WBMol:00004019 Paper_evidence: WBPaper00000484
              Curator_confirmed: WBPerson2021
        Phenotype_assay: Treatment: 1mM levamisole Paper_evidence: WBPaper00000484
              Curator_confirmed: WBPerson2021
      WBPhenotype:0000643 Paper_evidence: WBPaper00000484
          WBPaper00035548
        Curator_confirmed: WBPerson2021
          WBPerson712
        Remark: No backward motion in L1 larvae. Newly hatched larvae can barely move forward. Adults have a mild Unc defect where the mutants move forward in a slow decayed sine wave. Paper_evidence: WBPaper00000484
            Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00000484
          Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000024 PATO:0000460 Paper_evidence: WBPaper00000484
                Curator_confirmed: WBPerson2021
            WBls:0000041 PATO:0000460 Paper_evidence: WBPaper00000484
                Curator_confirmed: WBPerson2021
      WBPhenotype:0000656 Paper_evidence: WBPaper00034730
        Curator_confirmed: WBPerson2021
        Remark: In unc-38(x20) mutants, steady-state currents were significantly smaller than in wild type, suggesting altered nAChR desensitization Paper_evidence: WBPaper00034730
            Curator_confirmed: WBPerson2021
      WBPhenotype:0001203 Paper_evidence: WBPaper00034730
        Curator_confirmed: WBPerson2021
        Remark: unc-38 mutants are resistant to nicotine Paper_evidence: WBPaper00034730
            Curator_confirmed: WBPerson2021
      WBPhenotype:0001316 Paper_evidence: WBPaper00034730
        Curator_confirmed: WBPerson2021
        Remark: ACh and levamisole-evoked PSCs were significantly reduced in mutants Paper_evidence: WBPaper00034730
            Curator_confirmed: WBPerson2021
    Phenotype_not_observed: WBPhenotype:0000315 Paper_evidence: WBPaper00000484
        Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00000484
          Curator_confirmed: WBPerson2021
      WBPhenotype:0000478 Paper_evidence: WBPaper00000484
        Curator_confirmed: WBPerson2021
        Remark: Mutants tend to remain within the borders of bacterial lawns as does the wild-type. Paper_evidence: WBPaper00000484
            Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00000484
          Curator_confirmed: WBPerson2021
      WBPhenotype:0000964 Paper_evidence: WBPaper00027611
        Curator_confirmed: WBPerson712
        Affected_by: Molecule: WBMol:00000896 Paper_evidence: WBPaper00027611
              Curator_confirmed: WBPerson712
      WBPhenotype:0001084 Paper_evidence: WBPaper00000484
        Curator_confirmed: WBPerson2021
        Remark: Attraction to sodium chloride is normal (See methods). Paper_evidence: WBPaper00000484
            Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00000484
          Curator_confirmed: WBPerson2021
      WBPhenotype:0001414 Paper_evidence: WBPaper00000484
        Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00000484
          Curator_confirmed: WBPerson2021
  Reference: WBPaper00027611
    WBPaper00035548
    WBPaper00034730
    WBPaper00000484
    WBPaper00016088
  Remark: cag to caa Splice-site Point Mutation. Person_evidence: WBPerson22169
    Manually curated Gene associations preserved as a text remark so that VEP is the canonical predictor of consequence: WBGene00006774 Acceptor
  Method: Substitution_allele