WormBase Tree Display for Variation: WBVar00239439

WBVar00239439 Evidence: Paper_evidence: WBPaper00029257
  Name: Public_name: pk2298
    Other_name: D2030.6.1:c.694C>T
      CE09083:p.Gln232Ter
    HGVSg: CHROMOSOME_I:g.7587571G>A
  Sequence_details: SMap: S_parent: Sequence: D2030
    Flanking_sequences: TTTCAGTTTCATAAGGAACTACGATCGTGC AGAACAATCCACAACGCGTTCAAGAGAAAA
    Mapping_target: D2030
    Type_of_mutation: Substitution: C T
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00029026
    Laboratory: NL
    Status: Live
  Affects: Gene: WBGene00004178
    Transcript: D2030.6.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: D2030.6.1:c.694C>T
        HGVSp: CE09083:p.Gln232Ter
        cDNA_position: 700
        CDS_position: 694
        Protein_position: 232
        Exon_number: 4/11
        Codon_change: Cag/Tag
        Amino_acid_change: Q/*
    Interactor: WBInteraction000521812
  Genetics: Interpolated_map_position: I 2.18446
  Description: Phenotype: WBPhenotype:0000394 Paper_evidence: WBPaper00031961
        Curator_confirmed: WBPerson712
        Remark: PLG-1 was not detectable in Western blots of protein lysates. Paper_evidence: WBPaper00031961
            Curator_confirmed: WBPerson712
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00031961
            Curator_confirmed: WBPerson712
      WBPhenotype:0000688 Paper_evidence: WBPaper00031961
        Curator_confirmed: WBPerson712
        Remark: Animals had significantly reduced brood sizes at 20C and no or severely reduced brood sizes at 25C compared to wild-type animals. The temperature-sensitive period occurred during the adult stage. Paper_evidence: WBPaper00031961
            Curator_confirmed: WBPerson712
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00031961
            Curator_confirmed: WBPerson712
        Temperature_sensitive: Heat_sensitive: 25 Paper_evidence: WBPaper00031961
              Curator_confirmed: WBPerson712
        Phenotype_assay: Temperature: 20, 25 Paper_evidence: WBPaper00031961
              Curator_confirmed: WBPerson712
      WBPhenotype:0000774 Paper_evidence: WBPaper00031961
        Curator_confirmed: WBPerson712
        Remark: Sterility was only partially rescued by mating with wild-type males. Paper_evidence: WBPaper00031961
            Curator_confirmed: WBPerson712
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00031961
            Curator_confirmed: WBPerson712
        Phenotype_assay: Temperature: 25 Paper_evidence: WBPaper00031961
              Curator_confirmed: WBPerson712
      WBPhenotype:0000823 Paper_evidence: WBPaper00031961
        Curator_confirmed: WBPerson712
        Remark: Animals exhibited a significant reduction in the total number of germ nuclei at 20C and 25C. Paper_evidence: WBPaper00031961
            Curator_confirmed: WBPerson712
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00031961
            Curator_confirmed: WBPerson712
        Phenotype_assay: Temperature: 20, 25 Paper_evidence: WBPaper00031961
              Curator_confirmed: WBPerson712
      WBPhenotype:0001759 Paper_evidence: WBPaper00031961
        Curator_confirmed: WBPerson712
        Remark: 21U-RNAs were missing, as determined by Northern blot analysis. 21U-RNA depletion was observed at all temperatures examined. Paper_evidence: WBPaper00031961
            Curator_confirmed: WBPerson712
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00031961
            Curator_confirmed: WBPerson712
        Phenotype_assay: Temperature: 15, 20, 25 Paper_evidence: WBPaper00031961
              Curator_confirmed: WBPerson712
    Phenotype_not_observed: WBPhenotype:0000743 Paper_evidence: WBPaper00031961
        Curator_confirmed: WBPerson712
        Remark: Animals exhibited a wild-type RNAi response to foreign dsRNA (data not shown). Paper_evidence: WBPaper00031961
            Curator_confirmed: WBPerson712
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00031961
            Curator_confirmed: WBPerson712
      WBPhenotype:0001779 Paper_evidence: WBPaper00031961
        Curator_confirmed: WBPerson712
        Remark: miRNA expression was not altered. NOTE: Reads for mi-R78 and miR-798 were altered compared to wild-type; however, authors argue that these RNAs should be re-classified as 21U-RNAs, see Supplemental Materials. Paper_evidence: WBPaper00031961
            Curator_confirmed: WBPerson712
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00031961
            Curator_confirmed: WBPerson712
  Reference: WBPaper00031961
    WBPaper00029257
  Remark: well:5-g02, gene:D2030.6, position:1791, change:Q232X
    Manually curated Gene associations preserved as a text remark so that VEP is the canonical predictor of consequence: WBGene00004178 Nonsense
  Method: Substitution_allele