WormBase Tree Display for Variation: WBVar00090868

WBVar00090868 Evidence: Paper_evidence: WBPaper00035439
  Name: Public_name: n4588
    Other_name: CE27339:p.Thr180Ile
      Y92C3B.2a.1:c.539C>T
    HGVSg: CHROMOSOME_III:g.1072533G>A
  Sequence_details: SMap: S_parent: Sequence: Y92C3B
    Flanking_sequences: atttttctcattttttaggcccatcagtga ttgtcaatcacgtcgtctctacgttggaaa
    Mapping_target: Y92C3B
    Type_of_mutation: Substitution: c t
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00027558
    Component_of_genotype: WBGenotype00000106
    Laboratory: MT
    Status: Live
  Linked_to: WBVar00090869
    WBVar00090870
    WBVar00090871
  Affects: Gene: WBGene00006697
    Transcript: Y92C3B.2a.1 (12)
    Interactor: WBInteraction000561393
      WBInteraction000561394
  Genetics: Interpolated_map_position: III -24.6736
  Description: Phenotype: WBPhenotype:0000050 Paper_evidence: WBPaper00035439
        Curator_confirmed: WBPerson2021
        Remark: n4588 causes embryonic lethality at 25C Paper_evidence: WBPaper00035439
            Curator_confirmed: WBPerson2021
        Penetrance: Incomplete: Paper_evidence: WBPaper00035439
              Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00035439
          Curator_confirmed: WBPerson2021
        Variation_effect: Neomorph_gain_of_function: Paper_evidence: WBPaper00035439
            Curator_confirmed: WBPerson2021
        Temperature_sensitive: Heat_sensitive: 25C Paper_evidence: WBPaper00035439
              Curator_confirmed: WBPerson2021
      WBPhenotype:0000061 Paper_evidence: WBPaper00046110
        Curator_confirmed: WBPerson2495
        Remark: uaf-1(n4588) suppresses the shortened lifespan of smn-1(ok355) mutants (Fig. 3B, individual trials are shown in Fig. S4D and E). Paper_evidence: WBPaper00046110
            Curator_confirmed: WBPerson2495
      WBPhenotype:0000583 Paper_evidence: WBPaper00035439
        Curator_confirmed: WBPerson2021
        Remark: weak Dpy Paper_evidence: WBPaper00035439
            Curator_confirmed: WBPerson2021
        Penetrance: Incomplete: Paper_evidence: WBPaper00035439
              Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00035439
          Curator_confirmed: WBPerson2021
        Variation_effect: Neomorph_gain_of_function: Paper_evidence: WBPaper00035439
            Curator_confirmed: WBPerson2021
        Phenotype_assay: Treatment: 20C Paper_evidence: WBPaper00035439
              Curator_confirmed: WBPerson2021
      WBPhenotype:0000688 Paper_evidence: WBPaper00035439
        Curator_confirmed: WBPerson2021
        Remark: partial Ste Paper_evidence: WBPaper00035439
            Curator_confirmed: WBPerson2021
        Penetrance: Incomplete: Paper_evidence: WBPaper00035439
              Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00035439
          Curator_confirmed: WBPerson2021
        Variation_effect: Neomorph_gain_of_function: Paper_evidence: WBPaper00035439
            Curator_confirmed: WBPerson2021
        Phenotype_assay: Treatment: 20C Paper_evidence: WBPaper00035439
              Curator_confirmed: WBPerson2021
      WBPhenotype:0000697 Paper_evidence: WBPaper00035439
        Curator_confirmed: WBPerson2021
        Remark: Partial Pvl Paper_evidence: WBPaper00035439
            Curator_confirmed: WBPerson2021
        Penetrance: Incomplete: Paper_evidence: WBPaper00035439
              Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00035439
          Curator_confirmed: WBPerson2021
        Variation_effect: Neomorph_gain_of_function: Paper_evidence: WBPaper00035439
            Curator_confirmed: WBPerson2021
        Phenotype_assay: Treatment: 20C Paper_evidence: WBPaper00035439
              Curator_confirmed: WBPerson2021
      WBPhenotype:0001700 Paper_evidence: WBPaper00046110
        Curator_confirmed: WBPerson2495
        Remark: uaf-1(n4588) partially suppresses the reduced thrashing of smn-1(ok355) mutants, at day 5 post L1 at 20 degrees Celsius (Figure 4B) Paper_evidence: WBPaper00046110
            Curator_confirmed: WBPerson2495
        Phenotype_assay: Temperature: 20 Paper_evidence: WBPaper00046110
              Curator_confirmed: WBPerson2495
      WBPhenotype:0002348 Paper_evidence: WBPaper00046110
        Curator_confirmed: WBPerson2495
        Remark: uaf-1(n4588) partially suppresses the reduced locomotion (body bend rate) of smn-1(ok355) mutants, at day 5 post L1 at 20 degrees Celsius (Figure 4A) Paper_evidence: WBPaper00046110
            Curator_confirmed: WBPerson2495
        Phenotype_assay: Temperature: 20 Paper_evidence: WBPaper00046110
              Curator_confirmed: WBPerson2495
    Phenotype_not_observed: WBPhenotype:0000120 Paper_evidence: WBPaper00035439
        Curator_confirmed: WBPerson2021
        Remark: No apparent difference in UAF-1 protein levels between wild-type and uaf-1(n4588) animals Paper_evidence: WBPaper00035439
            Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00035439
          Curator_confirmed: WBPerson2021
        Variation_effect: Neomorph_gain_of_function: Paper_evidence: WBPaper00035439
            Curator_confirmed: WBPerson2021
        Phenotype_assay: Treatment: Western blotting Paper_evidence: WBPaper00035439
              Curator_confirmed: WBPerson2021
      WBPhenotype:0000137 Paper_evidence: WBPaper00035439
        Curator_confirmed: WBPerson2021
        Remark: uaf-1(n4588) does not reduce the mRNA levels of unc-93, sup-9, sup-10, sup-18, and sup-11 Paper_evidence: WBPaper00035439
            Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00035439
          Curator_confirmed: WBPerson2021
        Variation_effect: Neomorph_gain_of_function: Paper_evidence: WBPaper00035439
            Curator_confirmed: WBPerson2021
        Phenotype_assay: Treatment: Real-time RT-PCR analyses of mRNA levels Paper_evidence: WBPaper00035439
              Curator_confirmed: WBPerson2021
      WBPhenotype:0001807 Paper_evidence: WBPaper00035439
        Curator_confirmed: WBPerson2021
        Remark: uaf-1(n4588) animals do not cause obvious alternative splicing of the sup-10 and unc-93 transcripts Paper_evidence: WBPaper00035439
            Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00035439
          Curator_confirmed: WBPerson2021
        Variation_effect: Neomorph_gain_of_function: Paper_evidence: WBPaper00035439
            Curator_confirmed: WBPerson2021
        Phenotype_assay: Treatment: RT-PCR Paper_evidence: WBPaper00035439
              Curator_confirmed: WBPerson2021
  Disease_info: Modifies_disease: DOID:12377
    Modifies_disease_in_annotation: WBDOannot00000463
  Reference: WBPaper00035439
    WBPaper00046110
  Method: Substitution_allele