WormBase Tree Display for Variation: WBVar00089719

WBVar00089719 Evidence: Paper_evidence: WBPaper00003329
  Name: Public_name: n745
    Other_name: CE24823:p.Trp151Ter
      C32F10.2.1:c.453G>A
    HGVSg: CHROMOSOME_I:g.5812049G>A
  Sequence_details: SMap: S_parent: Sequence: C32F10
    Flanking_sequences: tttaccaaatgacattgttactggtgcatg gaaacgtacaaccacgcggttcaacgggtt
    Mapping_target: C32F10
    Type_of_mutation: Substitution: g a Paper_evidence: WBPaper00003329
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain (11)
    Component_of_genotype: WBGenotype00000009
    Laboratory: MT
    Status: Live
  Affects: Gene: WBGene00003020
    Transcript: C32F10.2.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: C32F10.2.1:c.453G>A
        HGVSp: CE24823:p.Trp151Ter
        cDNA_position: 474
        CDS_position: 453
        Protein_position: 151
        Exon_number: 5/12
        Codon_change: tgG/tgA
        Amino_acid_change: W/*
    Interactor (52)
  Genetics: Interpolated_map_position: I 0.461844
    Mapping_data: In_multi_point: 283
        308
        309
  Description: Phenotype: WBPhenotype:0000059 Paper_evidence: WBPaper00038168
        Curator_confirmed: WBPerson712
        Remark: Animals show larval arrest at 26 deg C. Paper_evidence: WBPaper00038168
            Curator_confirmed: WBPerson712
        Temperature_sensitive: Heat_sensitive: 26 Paper_evidence: WBPaper00038168
              Curator_confirmed: WBPerson712
      WBPhenotype:0000457 Paper_evidence: WBPaper00048637
        Curator_confirmed: WBPerson712
        Remark: Mutants have a significantly reduced L1 starvation survival rate compared to controls. Paper_evidence: WBPaper00048637
            Curator_confirmed: WBPerson712
        Rescued_by_transgene: WBTransgene00006433
          WBTransgene00021435
        EQ_annotations: Life_stage: WBls:0000024 PATO:0000460 Paper_evidence: WBPaper00048637
                Curator_confirmed: WBPerson712
      WBPhenotype:0000717 Paper_evidence: WBPaper00050199
        Curator_confirmed: WBPerson712
        Remark: "...we observed the derepression of polh-1 and dna-2, two canonical DRM-repressed genes (Fig.6A), in lin-35(n745) mutant animals but did not see any significant change in expression of the HSF-1 developmentallyregulated genes cct-5, sti-1, hsc70 (hsp-1), or hsp90 (daf-21) (Fig. 6B)." Paper_evidence: WBPaper00050199
            Curator_confirmed: WBPerson712
        Variation_effect: Loss_of_function_undetermined_extent: Paper_evidence: WBPaper00050199
            Curator_confirmed: WBPerson712
        EQ_annotations: Life_stage: WBls:0000027 PATO:0000460 Paper_evidence: WBPaper00050199
                Curator_confirmed: WBPerson712
      WBPhenotype:0001171 Paper_evidence: WBPaper00049368
        Curator_confirmed: WBPerson632
      WBPhenotype:0001258 Paper_evidence: WBPaper00027135
        Curator_confirmed: WBPerson557
        Remark: Show increased strength and penetrance for many germline, embryonic, and postembryonic RNAi phenotypes, including neuronal RNAi phenotypes. Paper_evidence: WBPaper00027135
            Curator_confirmed: WBPerson557
      WBPhenotype:0001276 Paper_evidence: WBPaper00046889
        Curator_confirmed: WBPerson557
        Remark: Mutation caused ectopic accumulation of GFP::PGL-1 granules in somatic cells. Paper_evidence: WBPaper00046889
            Curator_confirmed: WBPerson557
      WBPhenotype:0001384 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: almost WT alone (reduced fertility); Muv (extra vulval differentiation) in homozygotes with lin-8, lin-38 or lin-15(n767). ES2 Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0001593 Paper_evidence: WBPaper00046889
        Curator_confirmed: WBPerson557
        Remark: Authors found that expression of SCM::GFP was significantly reduced. Paper_evidence: WBPaper00046889
            Curator_confirmed: WBPerson557
      WBPhenotype:0001595 Paper_evidence: WBPaper00027135
        Curator_confirmed: WBPerson557
        Remark: Enhanced somatic transgene silencing. Paper_evidence: WBPaper00027135
            Curator_confirmed: WBPerson557
    Phenotype_not_observed: WBPhenotype:0001765 Paper_evidence: WBPaper00031936
        Curator_confirmed: WBPerson2021
        Remark: Mutants respond normally to CO2 Paper_evidence: WBPaper00031936
            Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000057 PATO:0000460 Paper_evidence: WBPaper00031936
                Curator_confirmed: WBPerson2021
        Phenotype_assay: Treatment: 10% CO2 Paper_evidence: WBPaper00031936
              Curator_confirmed: WBPerson2021
  Disease_info: Models_disease: DOID:1059
    Models_disease_in_annotation: WBDOannot00001021
  Reference (17)
  Method: Substitution_allele