WormBase Tree Display for Variation: WBVar00275496

WBVar00275496 Evidence: Paper_evidence: WBPaper00005082
  Name: Public_name: zu147
    Other_name: VF36H2L.1.1:c.826C>T
      CE16526:p.Arg276Ter
    HGVSg: CHROMOSOME_I:g.9232343G>A
  Sequence_details: SMap: S_parent: Sequence: VF36H2L
    Flanking_sequences: ataacggatgcagtcactttaaaacaagtg gaacattaattgaagaacgaaaattgagga
    Mapping_target: VF36H2L
    Type_of_mutation: Substitution: c t
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Laboratory: JJ
    Status: Live
  Affects: Gene: WBGene00000147
    Transcript: VF36H2L.1.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: VF36H2L.1.1:c.826C>T
        HGVSp: CE16526:p.Arg276Ter
        cDNA_position: 829
        CDS_position: 826
        Protein_position: 276
        Exon_number: 5/6
        Codon_change: Cga/Tga
        Amino_acid_change: R/*
    Interactor: WBInteraction000521730
      WBInteraction000521733
      WBInteraction000521897
      WBInteraction000521898
      WBInteraction000521916
      WBInteraction000521917
      WBInteraction000521918
      WBInteraction000524376
  Genetics: Interpolated_map_position: I 3.67828
  Description: Phenotype: WBPhenotype:0000050 Paper_evidence: WBPaper00005082
        Curator_confirmed: WBPerson2021
        Penetrance: High: Paper_evidence: WBPaper00005082
              Curator_confirmed: WBPerson2021
          Range: 96 96 Paper_evidence: WBPaper00005082
                Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00005082
          Curator_confirmed: WBPerson2021
        Variation_effect: Hypomorph_reduction_of_function: Paper_evidence: WBPaper00005082
            Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000003 PATO:0000460 Paper_evidence: WBPaper00005082
                Curator_confirmed: WBPerson2021
        Maternal
      WBPhenotype:0000052 Paper_evidence: WBPaper00040544
        Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: weaker allele than zu123 Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
          The partial loss-of-function allele aph-1(zu147) causes an incompletely penetrant maternal-effect embryonic lethality: almost all progeny produced by an aph-1(zu147) hermaphrodite arrest as late-stage embryos or hatchling. Paper_evidence: WBPaper00040544
            Curator_confirmed: WBPerson712
        Penetrance: Incomplete: Paper_evidence: WBPaper00040544
              Curator_confirmed: WBPerson712
        Maternal: With_maternal_effect: Paper_evidence: WBPaper00040544
            Curator_confirmed: WBPerson712
      WBPhenotype:0000080 Paper_evidence: WBPaper00005082
          WBPaper00040544
        Curator_confirmed: WBPerson2021
          WBPerson712
        Remark: Mutants have a partial pharynx as evident from their morphology Paper_evidence: WBPaper00005082
            Curator_confirmed: WBPerson2021
          Almost all progeny produced by an aph-1(zu147) hermaphrodite arrest as late-stage embryos or hatchlings with the hallmark Notch phenotype of a missing anterior pharynx. Paper_evidence: WBPaper00040544
            Curator_confirmed: WBPerson712
        Penetrance: Incomplete: Paper_evidence: WBPaper00040544
              Curator_confirmed: WBPerson712
        Recessive: Paper_evidence: WBPaper00005082
          Curator_confirmed: WBPerson2021
        Variation_effect: Hypomorph_reduction_of_function: Paper_evidence: WBPaper00005082
            Curator_confirmed: WBPerson2021
        EQ_annotations: Anatomy_term: WBbt:0003681 PATO:0000460 Paper_evidence: WBPaper00005082
                Curator_confirmed: WBPerson2021
          Life_stage: WBls:0000003 PATO:0000460 Paper_evidence: WBPaper00005082
                Curator_confirmed: WBPerson2021
            WBls:0000072 PATO:0000460 Paper_evidence: WBPaper00040544
                Curator_confirmed: WBPerson712
        Maternal: With_maternal_effect: Paper_evidence: WBPaper00040544
            Curator_confirmed: WBPerson712
      WBPhenotype:0001643 Paper_evidence: WBPaper00005082
        Curator_confirmed: WBPerson2021
        Remark: aph-1 embryos have super-numerary hypodermal cells. Paper_evidence: WBPaper00005082
            Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00005082
          Curator_confirmed: WBPerson2021
        Variation_effect: Hypomorph_reduction_of_function: Paper_evidence: WBPaper00005082
            Curator_confirmed: WBPerson2021
        EQ_annotations: Anatomy_term: WBbt:0005733 PATO:0000460 Paper_evidence: WBPaper00005082
                Curator_confirmed: WBPerson2021
          Life_stage: WBls:0000003 PATO:0000460 Paper_evidence: WBPaper00005082
                Curator_confirmed: WBPerson2021
        Maternal
        Phenotype_assay: Genotype: jcIs1 (jam-1::GFP) Paper_evidence: WBPaper00005082
              Curator_confirmed: WBPerson2021
  Reference: WBPaper00040544
    WBPaper00005082
    WBPaper00026132
  Method: Substitution_allele