WormBase Tree Display for Variation: WBVar00087967

WBVar00087967 Evidence: Paper_evidence: WBPaper00005131
  Name: Public_name: ij48
    Other_name: ij048
      CE11778:p.Ser46Phe
      K06A5.7.1:c.137C>T
    HGVSg: CHROMOSOME_I:g.6471766G>A
  Sequence_details: SMap: S_parent: Sequence: K06A5
    Flanking_sequences: tatttgaagaagatggcagctcccgcgatt tggtttgtcatgtaaatggaaggcttaatt
    Mapping_target: K06A5
    Type_of_mutation: Substitution: c t
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00008606
    Laboratory: IA
    Status: Live
  Linked_to: WBVar00087966
  Affects: Gene: WBGene00000386
    Transcript: K06A5.7.1 VEP_consequence: missense_variant,splice_region_variant
        VEP_impact: MODERATE
        HGVSc: K06A5.7.1:c.137C>T
        HGVSp: CE11778:p.Ser46Phe
        cDNA_position: 157
        CDS_position: 137
        Protein_position: 46
        Exon_number: 2/9
        Codon_change: tCt/tTt
        Amino_acid_change: S/F
    Interactor: WBInteraction000557537
      WBInteraction000557538
  Genetics: Interpolated_map_position: I 1.14042
    Mapping_data: In_pos_neg_data: 10670
        10671
        10680
  Description: Phenotype: WBPhenotype:0000171 Paper_evidence: WBPaper00005131
        Curator_confirmed: WBPerson712
        Remark: Many extra divisions were observed of cells derived from the E blastomere. Time between cell divisions was shortened. Paper_evidence: WBPaper00005131
            Curator_confirmed: WBPerson712
        Penetrance: High: Almost 100%. Paper_evidence: WBPaper00005131
              Curator_confirmed: WBPerson712
        Dominant: Paper_evidence: WBPaper00005131
          Curator_confirmed: WBPerson712
        Variation_effect: Hypermorph_gain_of_function: Paper_evidence: WBPaper00005131
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0004804 PATO:0000460 Paper_evidence: WBPaper00005131
                Curator_confirmed: WBPerson712
        Maternal: Strictly_maternal: Paper_evidence: WBPaper00005131
            Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: ijIs10 Paper_evidence: WBPaper00005131
              Curator_confirmed: WBPerson712
      WBPhenotype:0000503 Paper_evidence: WBPaper00005131
        Curator_confirmed: WBPerson712
        Remark: Intestinal cells are indictated to undergo rounds of endoreduplication based on an increase in size during larval development. Paper_evidence: WBPaper00005131
            Curator_confirmed: WBPerson712
        Penetrance: High: Almost 100%. Paper_evidence: WBPaper00005131
              Curator_confirmed: WBPerson712
        Dominant: Paper_evidence: WBPaper00005131
          Curator_confirmed: WBPerson712
        Variation_effect: Hypermorph_gain_of_function: Paper_evidence: WBPaper00005131
            Curator_confirmed: WBPerson712
        Maternal: Strictly_maternal: Paper_evidence: WBPaper00005131
            Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: ijIs10 Paper_evidence: WBPaper00005131
              Curator_confirmed: WBPerson712
      WBPhenotype:0000504 Paper_evidence: WBPaper00005131
        Curator_confirmed: WBPerson712
        Remark: No intestinal nuclear divisions were observed during L1 development, but many were observed during L2 larval stage. Postembryonic divisions were not synchronous as opposed to the process in wild type. Paper_evidence: WBPaper00005131
            Curator_confirmed: WBPerson712
        Penetrance: High: Almost 100%. Paper_evidence: WBPaper00005131
              Curator_confirmed: WBPerson712
        Dominant: Paper_evidence: WBPaper00005131
          Curator_confirmed: WBPerson712
        Variation_effect: Hypermorph_gain_of_function: Paper_evidence: WBPaper00005131
            Curator_confirmed: WBPerson712
        EQ_annotations: Life_stage: WBls:0000024 PATO:0000460 Paper_evidence: WBPaper00005131
                Curator_confirmed: WBPerson712
            WBls:0000027 PATO:0000460 Paper_evidence: WBPaper00005131
                Curator_confirmed: WBPerson712
        Maternal: Strictly_maternal: Paper_evidence: WBPaper00005131
            Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: ijIs10 Paper_evidence: WBPaper00005131
              Curator_confirmed: WBPerson712
      WBPhenotype:0000708 Paper_evidence: WBPaper00005131
        Curator_confirmed: WBPerson712
        Remark: The organization of the excess intestinal cells appears chaotic. Paper_evidence: WBPaper00005131
            Curator_confirmed: WBPerson712
        Penetrance: High: Almost 100%. Paper_evidence: WBPaper00005131
              Curator_confirmed: WBPerson712
        Dominant: Paper_evidence: WBPaper00005131
          Curator_confirmed: WBPerson712
        Variation_effect: Hypermorph_gain_of_function: Paper_evidence: WBPaper00005131
            Curator_confirmed: WBPerson712
        EQ_annotations: Life_stage: WBls:0000018 PATO:0000460 Paper_evidence: WBPaper00005131
                Curator_confirmed: WBPerson712
        Maternal: Strictly_maternal: Paper_evidence: WBPaper00005131
            Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: ijIs10 Paper_evidence: WBPaper00005131
              Curator_confirmed: WBPerson712
      WBPhenotype:0000834 Paper_evidence: WBPaper00005131
        Curator_confirmed: WBPerson712
        Remark: Cell cycle control in the E lineage cells is shortened but terminal differentiation of cells is not significantly alterered. Paper_evidence: WBPaper00005131
            Curator_confirmed: WBPerson712
        Penetrance: High: Almost 100%. Paper_evidence: WBPaper00005131
              Curator_confirmed: WBPerson712
        Dominant: Paper_evidence: WBPaper00005131
          Curator_confirmed: WBPerson712
        Variation_effect: Hypermorph_gain_of_function: Paper_evidence: WBPaper00005131
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0004804 PATO:0000460 Paper_evidence: WBPaper00005131
                Curator_confirmed: WBPerson712
        Maternal: Strictly_maternal: Paper_evidence: WBPaper00005131
            Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: ijIs10 Paper_evidence: WBPaper00005131
              Curator_confirmed: WBPerson712
      WBPhenotype:0001636 Paper_evidence: WBPaper00005131
        Curator_confirmed: WBPerson712
        Remark: Extra intestinal nuclei are born during embryogenesis (intestinal hyperplasia) as demonstrated by the expression of elt-2::GFP in 50-100% more animals than wild type and of cpr-5::GFP positive nuclei compared to wild type. In addition, there are many more intestinal cell boundaries in these animals compared with wild type as demonstrated by MH27 antibody immunofluoresence. Paper_evidence: WBPaper00005131
            Curator_confirmed: WBPerson712
        Dominant: Paper_evidence: WBPaper00005131
          Curator_confirmed: WBPerson712
        Variation_effect: Hypermorph_gain_of_function: Paper_evidence: WBPaper00005131
            Curator_confirmed: WBPerson712
        EQ_annotations: Life_stage: WBls:0000003 PATO:0000460 Paper_evidence: WBPaper00005131
                Curator_confirmed: WBPerson712
        Maternal: Strictly_maternal: Paper_evidence: WBPaper00005131
            Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: ijIs10 and or wIs84 Paper_evidence: WBPaper00005131
              Curator_confirmed: WBPerson712
      WBPhenotype:0001851 Paper_evidence: WBPaper00027700
        Curator_confirmed: WBPerson2021
        Remark: These mutants are significantly radiosensitive compared with N2 C. elegans. Radiation induced vulval cell loss causes vulval abnormalities (Pvl/ Vul) Paper_evidence: WBPaper00027700
            Curator_confirmed: WBPerson2021
        Variation_effect: Hypermorph_gain_of_function: Paper_evidence: WBPaper00027700
            Curator_confirmed: WBPerson2021
        EQ_annotations: Anatomy_term: WBbt:0006748 PATO:0000460 Paper_evidence: WBPaper00027700
                Curator_confirmed: WBPerson2021
          Life_stage: WBls:0000041 PATO:0000460 Paper_evidence: WBPaper00027700
                Curator_confirmed: WBPerson2021
        Phenotype_assay: Treatment: 100-400 Gy radiation Paper_evidence: WBPaper00027700
              Curator_confirmed: WBPerson2021
    Phenotype_not_observed (11)
  Reference: WBPaper00027700
    WBPaper00005131
    WBPaper00019707
    WBPaper00027541
  Method: Substitution_allele