WormBase Tree Display for Variation: WBVar00000464

WBVar00000464 Evidence: Paper_evidence: WBPaper00005019
  Name: Public_name: bn21
    Other_name: CE53747:p.Cys283Tyr
      F54C1.3a.2:c.848G>A
      F54C1.3a.1:c.848G>A
      CE11046:p.Cys283Tyr
      F54C1.3b.1:c.848G>A
    HGVSg: CHROMOSOME_I:g.4999016G>A
  Sequence_details: SMap: S_parent: Sequence: F54C1
    Flanking_sequences: aaaactttcagcaacttgttcgttttgggt cactttgatgtatgataaggatgctgaaat
    Mapping_target: F54C1
    Type_of_mutation: Substitution: g a
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00034437
    Laboratory: SS
    Status: Live
  Affects: Gene: WBGene00003221
    Transcript: F54C1.3a.1 (12)
      F54C1.3b.1 (12)
      F54C1.3a.2 (12)
    Interactor: WBInteraction000050882
  Genetics: Interpolated_map_position: I -0.428869
    Mapping_data: In_2_point: 6043
        6044
        6046
  Description: Phenotype: WBPhenotype:0000154 Paper_evidence: WBPaper00001477
        Curator_confirmed: WBPerson2021
        Remark: Homozygous mothers have a reduced average brood size compared to wild-type controls at 25 C. Paper_evidence: WBPaper00001477
            Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00001477
          Curator_confirmed: WBPerson2021
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00001477
            Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000057 PATO:0000460 Paper_evidence: WBPaper00001477
                Curator_confirmed: WBPerson2021
        Temperature_sensitive: Heat_sensitive: 25 Paper_evidence: WBPaper00001477
              Curator_confirmed: WBPerson2021
        Phenotype_assay: Temperature: 16 C , 25 C Paper_evidence: WBPaper00001477
              Curator_confirmed: WBPerson2021
      WBPhenotype:0000684 Paper_evidence: WBPaper00001477
        Curator_confirmed: WBPerson2021
        Remark: Mutant progeny exhibit abnormal germline proliferation during development and fail to form mature gametes at the restrictive temperature. Paper_evidence: WBPaper00001477
            Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00001477
          Curator_confirmed: WBPerson2021
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00001477
            Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000057 PATO:0000460 Paper_evidence: WBPaper00001477
                Curator_confirmed: WBPerson2021
        Temperature_sensitive: Heat_sensitive: Paper_evidence: WBPaper00001477
              Curator_confirmed: WBPerson2021
        Maternal: Strictly_maternal: Paper_evidence: WBPaper00001477
            Curator_confirmed: WBPerson2021
      WBPhenotype:0000688 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: 100% sterile 25C, 2% 16C; T-shift suggests action in early embryo Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        Temperature_sensitive: Heat_sensitive: 25 Person_evidence: WBPerson261
              Curator_confirmed: WBPerson712
      WBPhenotype:0001504 Paper_evidence: WBPaper00001477
        Curator_confirmed: WBPerson2021
        Remark: Mes phenotype is not due to abnormalities in P granule staining Paper_evidence: WBPaper00001477
            Curator_confirmed: WBPerson2021
        Penetrance: Complete: At 16 C, 2 percent of mutant progeny are sterile. At 25 C, 100 percent of mutant progeny are sterile Paper_evidence: WBPaper00001477
              Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00001477
          Curator_confirmed: WBPerson2021
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00001477
            Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000057 PATO:0000460 Paper_evidence: WBPaper00001477
                Curator_confirmed: WBPerson2021
        Temperature_sensitive: Heat_sensitive: 25 Paper_evidence: WBPaper00001477
              Curator_confirmed: WBPerson2021
        Maternal: Strictly_maternal: Paper_evidence: WBPaper00001477
            Curator_confirmed: WBPerson2021
        Phenotype_assay: Temperature: 16 C , 25 C Paper_evidence: WBPaper00001477
              Curator_confirmed: WBPerson2021
    Phenotype_not_observed: WBPhenotype:0000052 Paper_evidence: WBPaper00001477
        Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00001477
          Curator_confirmed: WBPerson2021
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00001477
            Curator_confirmed: WBPerson2021
        Temperature_sensitive: Heat_sensitive: Paper_evidence: WBPaper00001477
              Curator_confirmed: WBPerson2021
  Reference: WBPaper00001477
    WBPaper00014393
  Method: Substitution_allele