WormBase Tree Display for Variation: WBVar00090923

WBVar00090923 Evidence: Person_evidence: WBPerson318
    Author_evidence: Hubbard EJA
  Name: Public_name: na48
    Other_name: CE03583:p.Asp211Asn
      R166.4.1:c.631G>A
    HGVSg: CHROMOSOME_II:g.10540883C>T
  Sequence_details: SMap: S_parent: Sequence: R166
    Flanking_sequences: tcgaatccacgagttttatcagctggagcc accatattgcatgtcttcattcaatttcta
    Mapping_target: R166
    Type_of_mutation: Substitution: g a
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00007707
      WBStrain00007708
    Laboratory: GC
    Status: Live
  Affects: Gene: WBGene00004185
    Transcript: R166.4.1 (12)
    Interactor (36)
  Genetics: Interpolated_map_position: II 3.07689
  Description: Phenotype: WBPhenotype:0000031 Person_evidence: WBPerson318
        Curator_confirmed: WBPerson1845
      WBPhenotype:0000195 Person_evidence: WBPerson318
        Curator_confirmed: WBPerson1845
      WBPhenotype:0000688 Person_evidence: WBPerson318
        Curator_confirmed: WBPerson1845
      WBPhenotype:0000894 Paper_evidence: WBPaper00034675
        Curator_confirmed: WBPerson2987
        Remark: Gonad arms exhibited low penetrance expression of the GLD-1::GFP transgene, indicating a small amount of germ cell differentiation, in the proximal-most region of the germline Paper_evidence: WBPaper00034675
            Curator_confirmed: WBPerson2987
        Penetrance: Low: 12% Paper_evidence: WBPaper00034675
              Curator_confirmed: WBPerson2987
        EQ_annotations: Life_stage: WBls:0000057 PATO:0000460 Paper_evidence: WBPaper00034675
                Curator_confirmed: WBPerson2987
        Phenotype_assay: Temperature: 25C Paper_evidence: WBPaper00034675
              Curator_confirmed: WBPerson2987
          Genotype: pro-1(na48) II Paper_evidence: WBPaper00034675
              Curator_confirmed: WBPerson2987
      WBPhenotype:0001033 Person_evidence: WBPerson318
        Curator_confirmed: WBPerson1845
        Remark: mass of proliferating germ cells (tumor) in the proximal part of the adult gonad. Gametes form distal to the proximal tumor. Person_evidence: WBPerson318
            Curator_confirmed: WBPerson1845
        Penetrance: Incomplete: Person_evidence: WBPerson318
              Curator_confirmed: WBPerson1845
        Recessive: Person_evidence: WBPerson318
          Curator_confirmed: WBPerson1845
        Variation_effect: Hypomorph_reduction_of_function: Person_evidence: WBPerson318
            Curator_confirmed: WBPerson1845
        Temperature_sensitive: Heat_sensitive: 25 Person_evidence: WBPerson318
              Curator_confirmed: WBPerson1845
      WBPhenotype:0001038 Paper_evidence: WBPaper00034675
        Curator_confirmed: WBPerson2987
        Penetrance: High: 83-98% Paper_evidence: WBPaper00034675
              Curator_confirmed: WBPerson2987
        EQ_annotations: Life_stage: WBls:0000057 PATO:0000460 Paper_evidence: WBPaper00034675
                Curator_confirmed: WBPerson2987
        Phenotype_assay: Temperature: 25C Paper_evidence: WBPaper00034675
              Curator_confirmed: WBPerson2987
          Genotype: pro-1(na48) II Paper_evidence: WBPaper00034675
              Curator_confirmed: WBPerson2987
    Phenotype_not_observed: WBPhenotype:0001180 Paper_evidence: WBPaper00034675
        Curator_confirmed: WBPerson2987
        Remark: Gonad arms did NOT test positive for STYO-12 staining, indicating NO cell death in the proximal-most region of the germline Paper_evidence: WBPaper00034675
            Curator_confirmed: WBPerson2987
        EQ_annotations: Life_stage: WBls:0000057 PATO:0000460 Paper_evidence: WBPaper00034675
                Curator_confirmed: WBPerson2987
        Phenotype_assay: Temperature: 25C Paper_evidence: WBPaper00034675
              Curator_confirmed: WBPerson2987
          Genotype: pro-1(na48) II Paper_evidence: WBPaper00034675
              Curator_confirmed: WBPerson2987
  Reference: WBPaper00034675
    WBPaper00010817
    WBPaper00026327
    WBPaper00010789
  Remark: pro-1(na48) is an hypomorphic allele. The Pro phenotype is most penetrant at 25 degrees yet more severe phenotypes appear at lower temperatures suggesting that the allele is cold sensitive. With regard to the Pro phenotype it is heat sensitive. RNAi experiments support this interpretation
  Method: Substitution_allele