WormBase Tree Display for Variation: WBVar00240990

WBVar00240990 Evidence: Paper_evidence: WBPaper00001453
  Name: Public_name: q35
    Other_name: CE00237:p.Arg1174Ter
      F02A9.6.1:c.3520C>T
    HGVSg: CHROMOSOME_III:g.9098913C>T
  Sequence_details: SMap: S_parent: Sequence: ZK507
    Flanking_sequences: gcaaacgaacggcatcgtaatgatatcatg gacagcaaatagtcaagtcaggtcatggtg
    Mapping_target: ZK507
    Type_of_mutation: Substitution: c t Paper_evidence: WBPaper00001453
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00047321
    Laboratory: JK
    Status: Live
  Affects: Gene: WBGene00001609
    Transcript: F02A9.6.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: F02A9.6.1:c.3520C>T
        HGVSp: CE00237:p.Arg1174Ter
        cDNA_position: 3592
        CDS_position: 3520
        Protein_position: 1174
        Exon_number: 9/11
        Codon_change: Cga/Tga
        Amino_acid_change: R/*
    Interactor: WBInteraction000521910
      WBInteraction000521914
      WBInteraction000521919
      WBInteraction000521922
  Genetics: Interpolated_map_position: III 0.16401
    Mapping_data: In_multi_point: 1254
  Description: Phenotype: WBPhenotype:0000286 Paper_evidence: WBPaper00001007
        Curator_confirmed: WBPerson2021
        Remark: Although signs of pharyngeal differentiation is seen within the embryo, morphogenesis is defective, and a recognizable worm is not made. Paper_evidence: WBPaper00001007
            Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00001007
          Curator_confirmed: WBPerson2021
        Variation_effect: Hypomorph_reduction_of_function: Paper_evidence: WBPaper00001007
            Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000003 PATO:0000460 Paper_evidence: WBPaper00001007
                Curator_confirmed: WBPerson2021
        Maternal: Strictly_maternal: Paper_evidence: WBPaper00001007
            Curator_confirmed: WBPerson2021
      WBPhenotype:0000684 Paper_evidence: WBPaper00001007
        Curator_confirmed: WBPerson2021
        Remark: Only 15-198 germ cells are produced in glp-1 mutants. All these germ cells differentiate into sperm Paper_evidence: WBPaper00001007
            Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00001007
          Curator_confirmed: WBPerson2021
        Variation_effect: Hypomorph_reduction_of_function: Paper_evidence: WBPaper00001007
            Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000056 PATO:0000460 Paper_evidence: WBPaper00001007
                Curator_confirmed: WBPerson2021
            WBls:0000057 PATO:0000460 Paper_evidence: WBPaper00001007
                Curator_confirmed: WBPerson2021
      WBPhenotype:0000700 Paper_evidence: WBPaper00001007
          WBPaper00001576
        Person_evidence: WBPerson261
        Curator_confirmed: WBPerson2021
          WBPerson712
        Remark: 21/107 animals are Muv Paper_evidence: WBPaper00001576
            Curator_confirmed: WBPerson712
          causes Muv, extra vulval differentiation, mimics lin-12(gf) Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        Penetrance: Incomplete: Paper_evidence: WBPaper00001576
              Curator_confirmed: WBPerson712
        Semi_dominant: Paper_evidence: WBPaper00001007
            WBPaper00001576
          Person_evidence: WBPerson261
          Curator_confirmed: WBPerson2021
            WBPerson712
        Variation_effect: Hypermorph_gain_of_function: Paper_evidence: WBPaper00001007
              WBPaper00001576
            Person_evidence: WBPerson261
            Curator_confirmed: WBPerson2021
              WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0007809 PATO:0000460 Paper_evidence: WBPaper00001576
                Person_evidence: WBPerson261
                Curator_confirmed: WBPerson712
          Life_stage: WBls:0000041 PATO:0000460 Paper_evidence: WBPaper00001007
                Curator_confirmed: WBPerson2021
        Phenotype_assay: Genotype: him-5(e1490) Paper_evidence: WBPaper00001576
              Curator_confirmed: WBPerson712
      WBPhenotype:0000823 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: weaker phenotype than q46, some oocyte production, fertilized eggs arrest during embryogenesis) Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        Variation_effect: Hypomorph_reduction_of_function: Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000867 Paper_evidence: WBPaper00001007
        Person_evidence: WBPerson261
        Curator_confirmed: WBPerson2021
          WBPerson712
        Remark: fertilized eggs arrest during embryogenesis Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        Recessive: Paper_evidence: WBPaper00001007
          Curator_confirmed: WBPerson2021
        Variation_effect: Hypomorph_reduction_of_function: Paper_evidence: WBPaper00001007
            Person_evidence: WBPerson261
            Curator_confirmed: WBPerson2021
              WBPerson712
        EQ_annotations: Life_stage: WBls:0000003 PATO:0000460 Paper_evidence: WBPaper00001007
                Curator_confirmed: WBPerson2021
        Maternal: Strictly_maternal: Paper_evidence: WBPaper00001007
            Curator_confirmed: WBPerson2021
    Phenotype_not_observed: WBPhenotype:0000395 Paper_evidence: WBPaper00001007
        Curator_confirmed: WBPerson2021
        Remark: Oocytes and sperm are functional Paper_evidence: WBPaper00001007
            Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00001007
          Curator_confirmed: WBPerson2021
        Variation_effect: Hypomorph_reduction_of_function: Paper_evidence: WBPaper00001007
            Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000041 PATO:0000460 Paper_evidence: WBPaper00001007
                Curator_confirmed: WBPerson2021
  Reference: WBPaper00014397
    WBPaper00014630
    WBPaper00001576
    WBPaper00001453
    WBPaper00001007
    WBPaper00020874
  Method: Substitution_allele