WormBase Tree Display for Variation: WBVar00248955

WBVar00248955 Evidence: Paper_evidence: WBPaper00005610
      WBPaper00006052
  Name: Public_name: sy275
    Other_name: R03C1.3b.1:c.127T>A
      R03C1.3a.1:c.577T>A
      CE33290:p.Tyr43Asn
      CE25964:p.Tyr193Asn
    HGVSg: CHROMOSOME_II:g.14904936T>A
  Sequence_details: SMap: S_parent: Sequence: R03C1
    Flanking_sequences: cagctggagcggaagttcgagcaaaccaag acctagccggagcagatcgtgcacagctcg
    Mapping_target: R03C1
    Type_of_mutation: Substitution: t a
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00030864
    Laboratory: PS
    Status: Live
  Affects: Gene: WBGene00000584
    Transcript: R03C1.3b.1 (12)
      R03C1.3a.1 (12)
    Interactor (11)
  Genetics: Interpolated_map_position: II 23.6957
  Description: Phenotype: WBPhenotype:0000006 Paper_evidence: WBPaper00005610
        Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00005610
          Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000041 PATO:0000460 Paper_evidence: WBPaper00005610
                Curator_confirmed: WBPerson2021
      WBPhenotype:0000154 Paper_evidence: WBPaper00005610
        Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00005610
          Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000041 PATO:0000460 Paper_evidence: WBPaper00005610
                Curator_confirmed: WBPerson2021
      WBPhenotype:0000239 Paper_evidence: WBPaper00005610
        Curator_confirmed: WBPerson2021
        Remark: vulF precursors fail to divide. Poor separation of vulF cells Paper_evidence: WBPaper00005610
            Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00005610
          Curator_confirmed: WBPerson2021
        EQ_annotations: Anatomy_term: WBbt:0006768 PATO:0000460 Paper_evidence: WBPaper00005610
                Curator_confirmed: WBPerson2021
          Life_stage: WBls:0000038 PATO:0000460 Paper_evidence: WBPaper00005610
                Curator_confirmed: WBPerson2021
      WBPhenotype:0000283 Paper_evidence: WBPaper00005610
        Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00005610
          Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000038 PATO:0000460 Paper_evidence: WBPaper00005610
                Curator_confirmed: WBPerson2021
      WBPhenotype:0000665 Paper_evidence: WBPaper00005610
        Curator_confirmed: WBPerson2021
        Remark: connection defect between vas deferens and proctodeum in 30% of the males Paper_evidence: WBPaper00005610
            Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00005610
          Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000038 PATO:0000460 Paper_evidence: WBPaper00005610
                Curator_confirmed: WBPerson2021
        Phenotype_assay: Genotype: him-5(e1490) Paper_evidence: WBPaper00005610
              Curator_confirmed: WBPerson2021
      WBPhenotype:0000697 Paper_evidence: WBPaper00005610
        Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00005610
          Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000041 PATO:0000460 Paper_evidence: WBPaper00005610
                Curator_confirmed: WBPerson2021
      WBPhenotype:0000843 Paper_evidence: WBPaper00005610
        Curator_confirmed: WBPerson2021
        Remark: only 30% of homozygote males can mate Paper_evidence: WBPaper00005610
            Curator_confirmed: WBPerson2021
        Penetrance: High: Paper_evidence: WBPaper00005610
              Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00005610
          Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000041 PATO:0000460 Paper_evidence: WBPaper00005610
                Curator_confirmed: WBPerson2021
        Phenotype_assay: Genotype: him-5(e1490) Paper_evidence: WBPaper00005610
              Curator_confirmed: WBPerson2021
      WBPhenotype:0001276 Paper_evidence: WBPaper00025135
        Curator_confirmed: WBPerson2987
        Remark: "We found that in the mid-L4 stage, cog-1(sy275) caused ectopic expression of egl-17 in vulE cells (Fig. 2) and ectopic expression of ceh-2 in vulC, vulD, and vulE cells and loss of zmp-1 expression in vulE cells." Paper_evidence: WBPaper00025135
            Curator_confirmed: WBPerson2987
        EQ_annotations: Anatomy_term: WBbt:0006767 PATO:0000460 Paper_evidence: WBPaper00025135
                Curator_confirmed: WBPerson2987
            WBbt:0006765 PATO:0000460 Paper_evidence: WBPaper00025135
                Curator_confirmed: WBPerson2987
            WBbt:0006766 PATO:0000460 Paper_evidence: WBPaper00025135
                Curator_confirmed: WBPerson2987
          Life_stage: WBls:0000038 PATO:0000460 Paper_evidence: WBPaper00025135
                Curator_confirmed: WBPerson2987
        Phenotype_assay: Genotype: ayIs4 [egl-17::GFP] Paper_evidence: WBPaper00025135
              Curator_confirmed: WBPerson2987
            syIs54 [ceh-2::gfp] Paper_evidence: WBPaper00025135
              Curator_confirmed: WBPerson2987
      WBPhenotype:0001376 Paper_evidence: WBPaper00025135
        Curator_confirmed: WBPerson2987
        Remark: "We found that in the mid-L4 stage, cog-1(sy275) caused ectopic expression of egl-17 in vulE cells (Fig. 2) and ectopic expression of ceh-2 in vulC, vulD, and vulE cells and loss of zmp-1 expression in vulE cells." (also Table 1) Paper_evidence: WBPaper00025135
            Curator_confirmed: WBPerson2987
        EQ_annotations: Anatomy_term: WBbt:0006767 PATO:0000460 Paper_evidence: WBPaper00025135
                Curator_confirmed: WBPerson2987
          Life_stage: WBls:0000038 PATO:0000460 Paper_evidence: WBPaper00025135
                Curator_confirmed: WBPerson2987
        Phenotype_assay: Genotype: syIs49 [zmp-1::gfp] Paper_evidence: WBPaper00025135
              Curator_confirmed: WBPerson2987
      WBPhenotype:0001511 Paper_evidence: WBPaper00005610
        Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00005610
          Curator_confirmed: WBPerson2021
        EQ_annotations: Anatomy_term: WBbt:0005062 PATO:0000460 Paper_evidence: WBPaper00005610
                Curator_confirmed: WBPerson2021
          Life_stage: WBls:0000038 PATO:0000460 Paper_evidence: WBPaper00005610
                Curator_confirmed: WBPerson2021
        Phenotype_assay: Genotype: him-5(e1490) Paper_evidence: WBPaper00005610
              Curator_confirmed: WBPerson2021
      WBPhenotype:0001660 Paper_evidence: WBPaper00006052
        Curator_confirmed: WBPerson2021
        Remark: ASE asymmetry is mildly disrupted (as seen with lim-6 reporters). 2 ASEL Paper_evidence: WBPaper00006052
            Curator_confirmed: WBPerson2021
        Penetrance: Low: Paper_evidence: WBPaper00006052
              Curator_confirmed: WBPerson2021
          Range: 4 4 Paper_evidence: WBPaper00006052
                Curator_confirmed: WBPerson2021
        EQ_annotations: Anatomy_term: WBbt:0005663 PATO:0000460 Paper_evidence: WBPaper00006052
                Curator_confirmed: WBPerson2021
          Life_stage: WBls:0000041 PATO:0000460 Paper_evidence: WBPaper00006052
                Curator_confirmed: WBPerson2021
        Phenotype_assay: Genotype: otIs6, otIs114 Paper_evidence: WBPaper00006052
              Curator_confirmed: WBPerson2021
  Reference: WBPaper00006052
    WBPaper00025135
    WBPaper00017759
    WBPaper00005610
    WBPaper00017166
    WBPaper00014977
    WBPaper00015092
  Method: Substitution_allele