WormBase Tree Display for Variation: WBVar00240995

WBVar00240995 Evidence: Paper_evidence: WBPaper00032144
  Name: Public_name: q71
    Other_name: Y113G7B.5b.1:c.444G>A
      CE23287:p.Trp148Ter
      Y113G7B.5a.1:c.444G>A
      CE39287:p.Trp148Ter
    HGVSg: CHROMOSOME_V:g.20199915G>A
  Sequence_details: SMap: S_parent: Sequence: Y113G7B
    Flanking_sequences: cacatgaagcttcaaagcaatttgtggaatg attagagatattgctcaatcaggaattct
    Mapping_target: Y113G7B
    Type_of_mutation: Substitution: g a Paper_evidence: WBPaper00032144
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain (23)
    Laboratory: JK
      JH
    Status: Live
  Affects: Gene: WBGene00001482
    Transcript: Y113G7B.5b.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: Y113G7B.5b.1:c.444G>A
        HGVSp: CE39287:p.Trp148Ter
        cDNA_position: 476
        CDS_position: 444
        Protein_position: 148
        Exon_number: 4/6
        Codon_change: tgG/tgA
        Amino_acid_change: W/*
      Y113G7B.5a.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: Y113G7B.5a.1:c.444G>A
        HGVSp: CE23287:p.Trp148Ter
        cDNA_position: 484
        CDS_position: 444
        Protein_position: 148
        Exon_number: 4/7
        Codon_change: tgG/tgA
        Amino_acid_change: W/*
    Interactor (29)
  Genetics: Interpolated_map_position: V 24.921
    Mapping_data: In_2_point: 3388
        3389
      In_multi_point: 1193
        1299
        1300
        1601
        2694
  Description: Phenotype: WBPhenotype:0000666 Paper_evidence: WBPaper00031349
        Curator_confirmed: WBPerson712
        Remark: Animlas exhibit a compaction of oocytes in the gonad arm. Paper_evidence: WBPaper00031349
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0005175 PATO:0000460 Paper_evidence: WBPaper00031349
                Curator_confirmed: WBPerson712
          Life_stage: WBls:0000057 PATO:0000460 Paper_evidence: WBPaper00031349
                Curator_confirmed: WBPerson712
      WBPhenotype:0000682 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: XX animals transformed into females; XO animals wildtype males. Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        EQ_annotations: Life_stage: WBls:0000041 PATO:0000460 Person_evidence: WBPerson261
                Curator_confirmed: WBPerson712
        Ease_of_scoring: ES3_Easy_to_score: Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0001683 Paper_evidence: WBPaper00001037
          WBPaper00045521
        Curator_confirmed: WBPerson2021
          WBPerson22852
        Remark: There is no evidence of sperm, spermatogenesis, or germ cell death in fog-2 XX mutants. Further, oogenesis begins in fog-2 mutants at about the time spermatogenesis begins in wild type. Unlike XX animals, X0 animals homozygous for any of the fog-2 alleles are unaffected in either germline or soma. Paper_evidence: WBPaper00001037
            Curator_confirmed: WBPerson2021
        Penetrance: Complete: Paper_evidence: WBPaper00001037
              Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00001037
          Curator_confirmed: WBPerson2021
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00001037
            Curator_confirmed: WBPerson2021
      WBPhenotype:0001759 Paper_evidence: WBPaper00031961
        Curator_confirmed: WBPerson712
      WBPhenotype:0002381 Paper_evidence: WBPaper00046134
        Curator_confirmed: WBPerson14245
        Remark: q71 homozygotes show precocious production of volatile sex pheromone Paper_evidence: WBPaper00046134
            Curator_confirmed: WBPerson14245
    Phenotype_not_observed: WBPhenotype:0000306 Paper_evidence: WBPaper00027612
        Curator_confirmed: WBPerson712
        Remark: CAV-1::GFP degradation had normal kinetics in unfertilized eggs. Authors report identical results with CAV-2::GFP. Paper_evidence: WBPaper00027612
            Curator_confirmed: WBPerson712
        Phenotype_assay: Treatment: L4 hermaphrodites were incubated at 25C for 48 hr then examined under fluorescence. Paper_evidence: WBPaper00027612
              Curator_confirmed: WBPerson712
          Temperature: 20C Paper_evidence: WBPaper00027612
              Curator_confirmed: WBPerson712
          Genotype: pwIs281 Paper_evidence: WBPaper00027612
              Curator_confirmed: WBPerson712
      WBPhenotype:0000394 Paper_evidence: WBPaper00031961
        Curator_confirmed: WBPerson712
        Remark: PRG-1 was detectable in Western blots of protein lysates. Paper_evidence: WBPaper00031961
            Curator_confirmed: WBPerson712
      WBPhenotype:0001323 Paper_evidence: WBPaper00027612
        Curator_confirmed: WBPerson712
        Remark: CAV-1 body formation normal in oocytes as assayed by CAV-1::GFP fluorescence. Authors report identical results with CAV-2::GFP. Paper_evidence: WBPaper00027612
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0006797 PATO:0000460 Paper_evidence: WBPaper00027612
                Curator_confirmed: WBPerson712
        Phenotype_assay: Treatment: L4 hermaphrodites were incubated at 20C for 48 hr then examined under fluorescence. Paper_evidence: WBPaper00027612
              Curator_confirmed: WBPerson712
          Temperature: 20C Paper_evidence: WBPaper00027612
              Curator_confirmed: WBPerson712
          Genotype: pwIs281 Paper_evidence: WBPaper00027612
              Curator_confirmed: WBPerson712
  Reference (23)
  Method: Substitution_allele