WormBase Tree Display for Variation: WBVar00248960

WBVar00248960 Evidence: Paper_evidence: WBPaper00025221
  Name: Public_name: sy287
    Other_name: CE05215:p.Gly37Ser
      C04G2.7.1:c.109G>A
    HGVSg: CHROMOSOME_IV:g.10109294C>T
  Sequence_details: SMap: S_parent: Sequence: C04G2
    Flanking_sequences: agatggctcccacacgggcgtcaatcaattg gcggtgtatttgtcaacgggcgtcctcttgc
    Mapping_target: C04G2
    Type_of_mutation: Substitution: g a Paper_evidence: WBPaper00025221
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Laboratory: PS
    Status: Live
  Affects: Gene: WBGene00001204
    Transcript: C04G2.7.1 (12)
  Genetics: Interpolated_map_position: IV 4.52959
  Description: Phenotype: WBPhenotype:0000006 Paper_evidence: WBPaper00003719
        Curator_confirmed: WBPerson48
        Penetrance: Incomplete: not Egl at 15, 4% Egl at 20, 69% Egl at 25 Paper_evidence: WBPaper00003719
              Curator_confirmed: WBPerson48
          Range: 4 4 Paper_evidence: WBPaper00003719
                Curator_confirmed: WBPerson48
        Temperature_sensitive: Heat_sensitive: 20 Paper_evidence: WBPaper00003719
              Curator_confirmed: WBPerson48
        Phenotype_assay: Temperature: 20 Paper_evidence: WBPaper00003719
              Curator_confirmed: WBPerson48
      WBPhenotype:0000070 Paper_evidence: WBPaper00003719
        Curator_confirmed: WBPerson48
      WBPhenotype:0000183 Paper_evidence: WBPaper00028561
        Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0005784 PATO:0000460 Paper_evidence: WBPaper00028561
                Curator_confirmed: WBPerson712
          Life_stage: WBls:0000057 PATO:0000460 Paper_evidence: WBPaper00028561
                Curator_confirmed: WBPerson712
      WBPhenotype:0000443 Paper_evidence: WBPaper00003719
        Curator_confirmed: WBPerson48
        Penetrance: Complete: Penetrance is 50% at 15 C Paper_evidence: WBPaper00003719
              Curator_confirmed: WBPerson48
        Temperature_sensitive: Heat_sensitive: 20 Paper_evidence: WBPaper00003719
              Curator_confirmed: WBPerson48
        Phenotype_assay: Temperature: 20 Paper_evidence: WBPaper00003719
              Curator_confirmed: WBPerson48
      WBPhenotype:0000651 Paper_evidence: WBPaper00003719
        Curator_confirmed: WBPerson48
        Remark: males assayed Paper_evidence: WBPaper00003719
            Curator_confirmed: WBPerson48
        Penetrance: Incomplete: 50% penetrance at 20 C, complete penetrance at 25 C Paper_evidence: WBPaper00003719
              Curator_confirmed: WBPerson48
          Range: 50 50 Paper_evidence: WBPaper00003719
                Curator_confirmed: WBPerson48
        Temperature_sensitive: Heat_sensitive: 20 Paper_evidence: WBPaper00003719
              Curator_confirmed: WBPerson48
        Phenotype_assay: Temperature: 20 Paper_evidence: WBPaper00003719
              Curator_confirmed: WBPerson48
      WBPhenotype:0001180 Paper_evidence: WBPaper00028561
        Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0005784 PATO:0000460 Paper_evidence: WBPaper00028561
                Curator_confirmed: WBPerson712
          Life_stage: WBls:0000057 PATO:0000460 Paper_evidence: WBPaper00028561
                Curator_confirmed: WBPerson712
        Phenotype_assay: Treatment: Germline corpses were quantified in staged adults (generally 24 hours after L4/adult molt) stained with SYTO12. Paper_evidence: WBPaper00028561
              Curator_confirmed: WBPerson712
      WBPhenotype:0001278 Paper_evidence: WBPaper00025221
        Curator_confirmed: WBPerson2021
        Remark: lin-48 expression is disrupted in mutants Paper_evidence: WBPaper00025221
            Curator_confirmed: WBPerson2021
        Variation_effect: Hypomorph_reduction_of_function: Paper_evidence: WBPaper00025221
            Curator_confirmed: WBPerson2021
        Phenotype_assay: Genotype: saIs14 [lin-48::GFP] Paper_evidence: WBPaper00025221
              Curator_confirmed: WBPerson2021
      WBPhenotype:0001297 Paper_evidence: WBPaper00003719
          WBPaper00025221
        Curator_confirmed: WBPerson48
          WBPerson2021
        Remark: Mutants exhibit defective male tail development Paper_evidence: WBPaper00025221
            Curator_confirmed: WBPerson2021
        Variation_effect: Hypomorph_reduction_of_function: Paper_evidence: WBPaper00025221
            Curator_confirmed: WBPerson2021
      WBPhenotype:0001298 Paper_evidence: WBPaper00003719
        Curator_confirmed: WBPerson48
        Penetrance: Incomplete: Paper_evidence: WBPaper00003719
              Curator_confirmed: WBPerson48
        EQ_annotations: Life_stage: WBls:0000002 PATO:0000460 Paper_evidence: WBPaper00003719
                Curator_confirmed: WBPerson48
      WBPhenotype:0001372 Paper_evidence: WBPaper00025221
        Curator_confirmed: WBPerson2021
        Remark: egl-38(sy287) protein is defective in DNA binding Paper_evidence: WBPaper00025221
            Curator_confirmed: WBPerson2021
        Variation_effect: Hypomorph_reduction_of_function: Paper_evidence: WBPaper00025221
            Curator_confirmed: WBPerson2021
    Phenotype_not_observed: WBPhenotype:0000006 Paper_evidence: WBPaper00025221
        Curator_confirmed: WBPerson2021
        Remark: Mutants retain a high level of function in the egg-laying system Paper_evidence: WBPaper00025221
            Curator_confirmed: WBPerson2021
        Variation_effect: Hypomorph_reduction_of_function: Paper_evidence: WBPaper00025221
            Curator_confirmed: WBPerson2021
      WBPhenotype:0000695 Paper_evidence: WBPaper00025221
        Curator_confirmed: WBPerson2021
        Remark: vulF morphogenesis is normal Paper_evidence: WBPaper00025221
            Curator_confirmed: WBPerson2021
        Variation_effect: Hypomorph_reduction_of_function: Paper_evidence: WBPaper00025221
            Curator_confirmed: WBPerson2021
        EQ_annotations: Anatomy_term: WBbt:0006768 PATO:0000460 Paper_evidence: WBPaper00025221
                Curator_confirmed: WBPerson2021
      WBPhenotype:0001304 Paper_evidence: WBPaper00003719
        Curator_confirmed: WBPerson48
        Penetrance: Incomplete: penetrance in hermaphrodites at 20 or 25 deg is between 31-32; penetrance in males is 0% at 20 deg and 100% at 25 C Paper_evidence: WBPaper00003719
              Curator_confirmed: WBPerson48
        Temperature_sensitive: Heat_sensitive: 20 Paper_evidence: WBPaper00003719
              Curator_confirmed: WBPerson48
        Phenotype_assay: Temperature: 20 Paper_evidence: WBPaper00003719
              Curator_confirmed: WBPerson48
  Reference: WBPaper00028561
    WBPaper00010805
    WBPaper00010766
    WBPaper00003719
    WBPaper00025221
    WBPaper00019484
  Method: Substitution_allele