WormBase Tree Display for Variation: WBVar00241137

WBVar00241137 Evidence: Paper_evidence: WBPaper00005437
  Name: Public_name: q497
    Other_name (11)
    HGVSg: CHROMOSOME_I:g.6382986_6382987delinsAA
  Sequence_details: SMap: S_parent: Sequence: ZC308
    Flanking_sequences: ttttcctgtttcagctcagcgagaaaattt gattatcacaacaaggtgtctcaaactgac
    Mapping_target: ZC308
    Type_of_mutation: Substitution: gg rr
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain (16)
    Laboratory: JK
    Status: Live
  Affects: Gene: WBGene00001596
    Transcript: ZC308.1e.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: ZC308.1e.1:c.863_864delinsAA
        HGVSp: CE50283:p.Trp288Ter
        cDNA_position: 863-864
        CDS_position: 863-864
        Protein_position: 288
        Exon_number: 7/13
        Codon_change: tGG/tAA
        Amino_acid_change: W/*
      ZC308.1a.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: ZC308.1a.1:c.1661_1662delinsAA
        HGVSp: CE32766:p.Trp554Ter
        cDNA_position: 1877-1878
        CDS_position: 1661-1662
        Protein_position: 554
        Exon_number: 15/22
        Codon_change: tGG/tAA
        Amino_acid_change: W/*
      ZC308.1a.2 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: ZC308.1a.2:c.1661_1662delinsAA
        HGVSp: CE32766:p.Trp554Ter
        cDNA_position: 1756-1757
        CDS_position: 1661-1662
        Protein_position: 554
        Exon_number: 14/21
        Codon_change: tGG/tAA
        Amino_acid_change: W/*
      ZC308.1f.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: ZC308.1f.1:c.584_585delinsAA
        HGVSp: CE50157:p.Trp195Ter
        cDNA_position: 584-585
        CDS_position: 584-585
        Protein_position: 195
        Exon_number: 5/11
        Codon_change: tGG/tAA
        Amino_acid_change: W/*
      ZC308.1b.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: ZC308.1b.1:c.935_936delinsAA
        HGVSp: CE15159:p.Trp312Ter
        cDNA_position: 994-995
        CDS_position: 935-936
        Protein_position: 312
        Exon_number: 4/11
        Codon_change: tGG/tAA
        Amino_acid_change: W/*
      ZC308.1c.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: ZC308.1c.1:c.1430_1431delinsAA
        HGVSp: CE33255:p.Trp477Ter
        cDNA_position: 1467-1468
        CDS_position: 1430-1431
        Protein_position: 477
        Exon_number: 7/14
        Codon_change: tGG/tAA
        Amino_acid_change: W/*
    Interactor: WBInteraction000501293
      WBInteraction000501965
      WBInteraction000502155
      WBInteraction000502651
      WBInteraction000519048
      WBInteraction000542231
      WBInteraction000542232
      WBInteraction000542233
      WBInteraction000542234
      WBInteraction000569087
  Genetics: Interpolated_map_position: I 1.06701
  Description: Phenotype: WBPhenotype:0000670 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: Spermatogenesis defective in males. Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        EQ_annotations: Life_stage: WBls:0000056 PATO:0000460 Person_evidence: WBPerson261
                Curator_confirmed: WBPerson712
      WBPhenotype:0000823 Paper_evidence: WBPaper00032182
        Curator_confirmed: WBPerson712
        Remark: Animals displayed germ cell over-proliferation. Paper_evidence: WBPaper00032182
            Curator_confirmed: WBPerson712
        Variation_effect: Hypermorph_gain_of_function: Paper_evidence: WBPaper00032182
            Curator_confirmed: WBPerson712
      WBPhenotype:0001797 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: germ cells enter meiosis, fail in pachytene, make enlarged oocyte-like cells. Spermatogenesis also defective in males. Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
  Reference (12)
  Remark: Manually curated Gene associations preserved as a text remark so that VEP is the canonical predictor of consequence: WBGene00001596 Amber_UAG_or_Opal_UGA W(554) to stop Paper_evidence: WBPaper00005437
  Method: Substitution_allele