WormBase Tree Display for Variation: WBVar00089402

WBVar00089402 Evidence: Paper_evidence: WBPaper00001306
  Name: Public_name: n302
    Other_name: CE00274:p.Gly747Asp
      R107.8.1:c.2240G>A
    HGVSg: CHROMOSOME_III:g.9063149C>T
  Sequence_details: SMap: S_parent: Sequence: R107
    Flanking_sequences: gtaatacaaatggatgtggttttgatggtg tgattgtgataatgaaacgaatgccacaat
    Mapping_target: R107
    Type_of_mutation: Substitution: g a Paper_evidence: WBPaper00001306
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00022819
      WBStrain00022820
      WBStrain00022821
      WBStrain00022823
      WBStrain00022824
      WBStrain00026716
      WBStrain00026831
      WBStrain00026834
      WBStrain00027022
      WBStrain00027023
    Laboratory: MT
    Status: Live
  Linked_to: WBVar00089403
  Affects: Gene: WBGene00003001
    Transcript: R107.8.1 (12)
    Interactor (28)
  Isolation: Mutagen: EMS
  Genetics: Interpolated_map_position: III 0.133229
    Mapping_data: In_multi_point: 887
        1086
        2305
        2306
        2307
        2308
  Description: Phenotype: WBPhenotype:0000006 Paper_evidence: WBPaper00000646
        Curator_confirmed: WBPerson625
        Remark: (Table 1) Paper_evidence: WBPaper00000646
            Curator_confirmed: WBPerson625
      WBPhenotype:0000170 Paper_evidence: WBPaper00031590
        Curator_confirmed: WBPerson712
        Remark: Adult lateral alae were present in 29% L4 (n=31) and 100% adult (n=10) animals. Paper_evidence: WBPaper00031590
            Curator_confirmed: WBPerson712
        Variation_effect: Hypermorph_gain_of_function: Paper_evidence: WBPaper00031590
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0007832 PATO:0000460 Paper_evidence: WBPaper00031590
                Curator_confirmed: WBPerson712
          Life_stage: WBls:0000038 PATO:0000460 Paper_evidence: WBPaper00031590
                Curator_confirmed: WBPerson712
        Phenotype_assay: Temperature: 15C Paper_evidence: WBPaper00031590
              Curator_confirmed: WBPerson712
      WBPhenotype:0000640 Paper_evidence: WBPaper00031590
        Curator_confirmed: WBPerson712
        Variation_effect: Hypermorph_gain_of_function: Paper_evidence: WBPaper00031590
            Curator_confirmed: WBPerson712
        Phenotype_assay: Temperature: 15C Paper_evidence: WBPaper00031590
              Curator_confirmed: WBPerson712
      WBPhenotype:0000698 Paper_evidence: WBPaper00028987
          WBPaper00000762
        Person_evidence: WBPerson261
        Curator_confirmed: WBPerson2021
          WBPerson712
        Remark: semidominant Vul phenotype Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        Penetrance: Incomplete: 66 percent penetrance under heterozygous conditions, 99 percent penetrance under homozygous conditions Paper_evidence: WBPaper00000762
              Curator_confirmed: WBPerson2021
        Semi_dominant: Paper_evidence: WBPaper00000762
          Person_evidence: WBPerson261
          Curator_confirmed: WBPerson2021
            WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0006748 PATO:0000460 Paper_evidence: WBPaper00028987
                Curator_confirmed: WBPerson2021
          Life_stage: WBls:0000057 PATO:0000460 Paper_evidence: WBPaper00028987
                  WBPaper00000762
                Person_evidence: WBPerson261
                Curator_confirmed: WBPerson2021
                  WBPerson712
      WBPhenotype:0000700 Paper_evidence: WBPaper00028987
          WBPaper00001576
          WBPaper00024442
        Curator_confirmed: WBPerson2021
          WBPerson712
        Remark: Muv has weak expressivity; however becomes more dramatic when mutant is combined with lin-12(n302). Paper_evidence: WBPaper00001576
            Curator_confirmed: WBPerson712
          weak Paper_evidence: WBPaper00024442
            Curator_confirmed: WBPerson712
        Penetrance: Low: Paper_evidence: WBPaper00028987
                WBPaper00001576
              Curator_confirmed: WBPerson2021
                WBPerson712
          Range: 2 2 Paper_evidence: WBPaper00028987
                Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00001576
          Curator_confirmed: WBPerson712
        Variation_effect: Hypermorph_gain_of_function: Paper_evidence: WBPaper00024442
            Curator_confirmed: WBPerson712
        EQ_annotations: Life_stage: WBls:0000057 PATO:0000460 Paper_evidence: WBPaper00028987
                Curator_confirmed: WBPerson2021
        Phenotype_assay: Genotype: him-5(e1490) Paper_evidence: WBPaper00001576
              Curator_confirmed: WBPerson712
    Phenotype_not_observed: WBPhenotype:0000127 Paper_evidence: WBPaper00031997
        Curator_confirmed: WBPerson712
        Remark: Animals did not recover significantly faster than wild type under the same conditions. Paper_evidence: WBPaper00031997
            Curator_confirmed: WBPerson712
        Variation_effect: Hypermorph_gain_of_function: Paper_evidence: WBPaper00031997
            Curator_confirmed: WBPerson712
        EQ_annotations: Life_stage: WBls:0000032 PATO:0000460 Paper_evidence: WBPaper00031997
                Curator_confirmed: WBPerson712
        Phenotype_assay: Treatment: Dauers were induced by pheromone. Paper_evidence: WBPaper00031997
              Curator_confirmed: WBPerson712
          Temperature: 25 Paper_evidence: WBPaper00031997
              Curator_confirmed: WBPerson712
      WBPhenotype:0001660 Paper_evidence: WBPaper00006052
        Curator_confirmed: WBPerson2021
        Remark: No disruption of ASE asymmetry (as seen with lim-6, gcy-7 and gcy-5 reporters) Paper_evidence: WBPaper00006052
            Curator_confirmed: WBPerson2021
        Phenotype_assay: Genotype: otIs114, otIs6, otIs3, ntIs1 Paper_evidence: WBPaper00006052
              Curator_confirmed: WBPerson2021
  Reference (25)
  Method: Substitution_allele