WormBase Tree Display for Variation: WBVar00088352

WBVar00088352 Evidence: Paper_evidence: WBPaper00026863
  Name: Public_name: ku258
    Other_name: CE46860:p.Arg909His
      R10E11.1b.1:c.2726G>A
      CE47039:p.Arg898His
      CE46909:p.Arg898His
      R10E11.1a.2:c.2693G>A
      R10E11.1a.1:c.2693G>A
      R10E11.1c.1:c.2693G>A
    HGVSg: CHROMOSOME_III:g.9770107G>A
  Sequence_details: SMap: S_parent: Sequence: R10E11
    Flanking_sequences: atattcccgattatcacgagatcatcaagc cccaatggatttggaaaccgttcacaagaa
    Mapping_target: R10E11
    Type_of_mutation: Substitution: g a Paper_evidence: WBPaper00026863
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00026532
      WBStrain00047314
    Laboratory: MH
    Status: Live
  Affects: Gene: WBGene00000366
    Transcript: R10E11.1c.1 (12)
      R10E11.1b.1 (12)
      R10E11.1a.2 (12)
      R10E11.1a.1 (12)
    Interactor (12)
  Genetics: Interpolated_map_position: III 0.995976
  Description: Phenotype: WBPhenotype:0000007 Paper_evidence: WBPaper00026863
        Curator_confirmed: WBPerson712
        Remark: 8% of fertile animals (n=53) were unable to lay eggs. The eggs eventually hatch within the animal. Paper_evidence: WBPaper00026863
            Curator_confirmed: WBPerson712
        Penetrance: Low: Paper_evidence: WBPaper00026863
              Curator_confirmed: WBPerson712
        Variation_effect: Hypermorph_gain_of_function: Paper_evidence: WBPaper00026863
            Curator_confirmed: WBPerson712
        Phenotype_assay: Treatment: All strains were grown at 20C. Paper_evidence: WBPaper00026863
              Curator_confirmed: WBPerson712
      WBPhenotype:0000031 Paper_evidence: WBPaper00026863
        Curator_confirmed: WBPerson712
        Remark: Some animal exhibited slowed growth. Paper_evidence: WBPaper00026863
            Curator_confirmed: WBPerson712
        Variation_effect: Hypermorph_gain_of_function: Paper_evidence: WBPaper00026863
            Curator_confirmed: WBPerson712
        Phenotype_assay: Treatment: All strains were grown at 20C. Paper_evidence: WBPaper00026863
              Curator_confirmed: WBPerson712
      WBPhenotype:0000032 Paper_evidence: WBPaper00026863
        Curator_confirmed: WBPerson712
        Remark: Animals are generally sick and display a number of pleiotropic defects. Paper_evidence: WBPaper00026863
            Curator_confirmed: WBPerson712
        Variation_effect: Hypermorph_gain_of_function: Paper_evidence: WBPaper00026863
            Curator_confirmed: WBPerson712
        Phenotype_assay: Treatment: All strains were grown at 20C. Paper_evidence: WBPaper00026863
              Curator_confirmed: WBPerson712
      WBPhenotype:0000050 Paper_evidence: WBPaper00026863
        Curator_confirmed: WBPerson712
        Remark: 4% progeny (n=428) fail to hatch. Embryos appear arrested shortly after gastrulation and hence exhibit differentiation in a number of tissues. Paper_evidence: WBPaper00026863
            Curator_confirmed: WBPerson712
        Penetrance: Low: 4% Paper_evidence: WBPaper00026863
              Curator_confirmed: WBPerson712
        Variation_effect: Hypermorph_gain_of_function: Paper_evidence: WBPaper00026863
            Curator_confirmed: WBPerson712
        Phenotype_assay: Treatment: All strains were grown at 20C. Paper_evidence: WBPaper00026863
              Curator_confirmed: WBPerson712
      WBPhenotype:0000054 Paper_evidence: WBPaper00026863
        Curator_confirmed: WBPerson712
        Remark: 10% animals die during larval development (n=411). Larval lethality occurred at various stages. Paper_evidence: WBPaper00026863
            Curator_confirmed: WBPerson712
        Penetrance: Low: 10% Paper_evidence: WBPaper00026863
              Curator_confirmed: WBPerson712
        Variation_effect: Hypermorph_gain_of_function: Paper_evidence: WBPaper00026863
            Curator_confirmed: WBPerson712
        Phenotype_assay: Treatment: All strains were grown at 20C. Paper_evidence: WBPaper00026863
              Curator_confirmed: WBPerson712
      WBPhenotype:0000688 Paper_evidence: WBPaper00026863
        Curator_confirmed: WBPerson712
        Remark: Sterility was observed in 19% of homozygous animals (n=65). Paper_evidence: WBPaper00026863
            Curator_confirmed: WBPerson712
        Penetrance: Incomplete: Paper_evidence: WBPaper00026863
              Curator_confirmed: WBPerson712
        Variation_effect: Hypermorph_gain_of_function: Paper_evidence: WBPaper00026863
            Curator_confirmed: WBPerson712
        Phenotype_assay: Treatment: All strains were grown at 20C. Paper_evidence: WBPaper00026863
              Curator_confirmed: WBPerson712
      WBPhenotype:0000697 Paper_evidence: WBPaper00026863
        Curator_confirmed: WBPerson712
        Remark: Some animal exhibited slowed growth. Paper_evidence: WBPaper00026863
            Curator_confirmed: WBPerson712
        Variation_effect: Hypermorph_gain_of_function: Paper_evidence: WBPaper00026863
            Curator_confirmed: WBPerson712
        Phenotype_assay: Treatment: All strains were grown at 20C. Paper_evidence: WBPaper00026863
              Curator_confirmed: WBPerson712
      WBPhenotype:0000698 Paper_evidence: WBPaper00026863
        Curator_confirmed: WBPerson712
        Remark: 8% animals (n=40) are aberrant in induction of VPCs; <3 of the VPCs, which are induced in wild type animals (P5.p to P7.p), are induced in these animals, as scored by Nomarski optics. Paper_evidence: WBPaper00026863
            Curator_confirmed: WBPerson712
        Penetrance: Low: Paper_evidence: WBPaper00026863
              Curator_confirmed: WBPerson712
        Variation_effect: Hypermorph_gain_of_function: Paper_evidence: WBPaper00026863
            Curator_confirmed: WBPerson712
        Phenotype_assay: Treatment: All strains were grown at 20C. Paper_evidence: WBPaper00026863
              Curator_confirmed: WBPerson712
      WBPhenotype:0001278 Paper_evidence: WBPaper00049891
        Curator_confirmed: WBPerson10038
        Remark: Quoted from text: "We found that cbp-1 (ku258 gf) mutants exhibited decreased fluorescence of the glr-1 transcriptional reporter (Fig 3G). Together, these results indicate that the CaMK signaling axis, including CKK-1/CaMKK, CMK-1/CaMK, CRH-1/CREB and CBP-1/CBP act to repress glr-1 transcription (Fig 3J)." Paper_evidence: WBPaper00049891
            Curator_confirmed: WBPerson10038
        Variation_effect: Gain_of_function_undetermined_type: Paper_evidence: WBPaper00049891
            Curator_confirmed: WBPerson10038
        Phenotype_assay: Strain: WBStrain00047314 Paper_evidence: WBPaper00049891
              Curator_confirmed: WBPerson10038
          Control_strain: WBStrain00047313 Paper_evidence: WBPaper00049891
              Curator_confirmed: WBPerson10038
          Genotype: pzIs29[Pglr-1::NLS-GFP::LacZ::unc-54 3'UTR] Paper_evidence: WBPaper00049891
              Curator_confirmed: WBPerson10038
    Phenotype_not_observed: WBPhenotype:0000220 Paper_evidence: WBPaper00026863
        Curator_confirmed: WBPerson712
        Remark: No ectopic VPC fusion events were observed as assayed by ajm-1::GFP expression patterns. Paper_evidence: WBPaper00026863
            Curator_confirmed: WBPerson712
        Variation_effect: Hypermorph_gain_of_function: Paper_evidence: WBPaper00026863
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0007809 PATO:0000460 Paper_evidence: WBPaper00026863
                Curator_confirmed: WBPerson712
      WBPhenotype:0000700 Paper_evidence: WBPaper00026863
        Curator_confirmed: WBPerson712
        Remark: 0% animals display one or more ectopic pseudovulvae (n=233). Paper_evidence: WBPaper00026863
            Curator_confirmed: WBPerson712
        Variation_effect: Hypermorph_gain_of_function: Paper_evidence: WBPaper00026863
            Curator_confirmed: WBPerson712
        Phenotype_assay: Treatment: All strains were grown at 20C. Paper_evidence: WBPaper00026863
              Curator_confirmed: WBPerson712
      WBPhenotype:0001272 Paper_evidence: WBPaper00026863
        Curator_confirmed: WBPerson712
        Remark: On average 2.94 VCPs (n=40 animals) are induced to adopt a vulval cell fate, which is near that of wild type, (3/6 VPCs induced n=29). VPCs and fate adoption were scored by Nomarski optics. Paper_evidence: WBPaper00026863
            Curator_confirmed: WBPerson712
        Variation_effect: Hypermorph_gain_of_function: Paper_evidence: WBPaper00026863
            Curator_confirmed: WBPerson712
        Phenotype_assay: Treatment: Vulval induction was scored in late L3 to early L4 stage larvae, under Normarski optics. All strains were grown at 20C. Paper_evidence: WBPaper00026863
              Curator_confirmed: WBPerson712
  Reference: WBPaper00026863
    WBPaper00049891
  Remark: The ku258 allele has two mutations. In addition to the R(909)H mutation described there is a E(1021)K mutation (based on the R10E11.1b isoform) Curator_confirmed: WBPerson2970
  Method: Substitution_allele