WormBase Tree Display for Variation: WBVar00088573

WBVar00088573 Name: Public_name: m85
    Other_name: CE06236:p.Arg416Ter
      R05D11.1.1:c.1246C>T
    HGVSg: CHROMOSOME_I:g.8585160G>A
  Sequence_details: SMap: S_parent: Sequence: R05D11
    Flanking_sequences: gaagttcgtggtctcattggaaagggtgtt gattttacttgttagctggtgaagtctatg
    Mapping_target: R05D11
    Type_of_mutation: Substitution: c t Paper_evidence: WBPaper00035610
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Laboratory: DR
    Status: Live
  Affects: Gene: WBGene00000904
    Transcript: R05D11.1.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: R05D11.1.1:c.1246C>T
        HGVSp: CE06236:p.Arg416Ter
        cDNA_position: 1264
        CDS_position: 1246
        Protein_position: 416
        Exon_number: 6/8
        Codon_change: Cga/Tga
        Amino_acid_change: R/*
    Interactor: WBInteraction000052451
      WBInteraction000052452
      WBInteraction000052472
      WBInteraction000502300
      WBInteraction000504246
      WBInteraction000536039
      WBInteraction000536040
      WBInteraction000536060
      WBInteraction000536063
  Genetics: Interpolated_map_position: I 2.97481
  Description: Phenotype: WBPhenotype:0000006 Paper_evidence: WBPaper00035610
        Curator_confirmed: WBPerson2021
        Remark: Mutations in daf-8 confer an egg-laying defect Paper_evidence: WBPaper00035610
            Curator_confirmed: WBPerson2021
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00035610
            Curator_confirmed: WBPerson2021
      WBPhenotype:0000007 Paper_evidence: WBPaper00002149
        Curator_confirmed: WBPerson712
        Remark: Animals died due to internal hatching of eggs. Paper_evidence: WBPaper00002149
            Curator_confirmed: WBPerson712
        Phenotype_assay: Treatment: Animals were raised at 15C and placed at 25.5C as L4 larvae or young adults for the life span assay. Paper_evidence: WBPaper00002149
              Curator_confirmed: WBPerson712
          Temperature: 25.5C Paper_evidence: WBPaper00002149
              Curator_confirmed: WBPerson712
      WBPhenotype:0000012 Paper_evidence: WBPaper00002149
          WBPaper00028386
          WBPaper00035610
        Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
          WBPerson2021
        Remark: Animals formed less than 10% dauer at 16C. Paper_evidence: WBPaper00028386
            Curator_confirmed: WBPerson712
          The temperature sensitive Daf-c phenotype is most penetrant at 25.5C Paper_evidence: WBPaper00035610
            Curator_confirmed: WBPerson2021
          constitutive dauer formation at 25C, reversible by shift to 15C Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00035610
            Curator_confirmed: WBPerson2021
        Temperature_sensitive: Heat_sensitive: 25 Paper_evidence: WBPaper00002149
                WBPaper00028386
              Person_evidence: WBPerson261
              Curator_confirmed: WBPerson712
            25.5 Paper_evidence: WBPaper00035610
              Curator_confirmed: WBPerson2021
        Phenotype_assay: Temperature: 16 Paper_evidence: WBPaper00028386
              Curator_confirmed: WBPerson712
          Genotype: unc-4(e120) Paper_evidence: WBPaper00028386
              Curator_confirmed: WBPerson712
        Ease_of_scoring: ES3_Easy_to_score: Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000135 Paper_evidence: WBPaper00035610
        Curator_confirmed: WBPerson2021
        Remark: lag-2 expression was upregulated in daf-8 loss-of-function mutants. daf-3 transcripts were not affected in daf-8 mutants Paper_evidence: WBPaper00035610
            Curator_confirmed: WBPerson2021
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00035610
            Curator_confirmed: WBPerson2021
        Phenotype_assay: Treatment: qRT-PCR Paper_evidence: WBPaper00035610
              Curator_confirmed: WBPerson2021
      WBPhenotype:0000154 Paper_evidence: WBPaper00035610
        Curator_confirmed: WBPerson2021
        Remark: Mutations in daf-8 confer reduced brood size Paper_evidence: WBPaper00035610
            Curator_confirmed: WBPerson2021
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00035610
            Curator_confirmed: WBPerson2021
      WBPhenotype:0000294 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: dark intestine Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        Temperature_sensitive: Heat_sensitive: 25 Person_evidence: WBPerson261
              Curator_confirmed: WBPerson712
      WBPhenotype:0000640 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: type C Egl at all temperatures Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        Temperature_sensitive: Heat_sensitive: 25 Person_evidence: WBPerson261
              Curator_confirmed: WBPerson712
      WBPhenotype:0001033 Paper_evidence: WBPaper00035610
        Curator_confirmed: WBPerson2021
        Remark: The mitotic zone was significantly extended in daf-8(m85) Paper_evidence: WBPaper00035610
            Curator_confirmed: WBPerson2021
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00035610
            Curator_confirmed: WBPerson2021
        Phenotype_assay: Treatment: DAPI staining Paper_evidence: WBPaper00035610
              Curator_confirmed: WBPerson2021
      WBPhenotype:0001215 Paper_evidence: WBPaper00035610
        Curator_confirmed: WBPerson2021
        Remark: daf-8(m85) exhibited an increased number of PH3-positive cells Paper_evidence: WBPaper00035610
            Curator_confirmed: WBPerson2021
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00035610
            Curator_confirmed: WBPerson2021
        Phenotype_assay: Treatment: anti-phospho-histone H3 antibody staining Paper_evidence: WBPaper00035610
              Curator_confirmed: WBPerson2021
      WBPhenotype:0001687 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: Srf-6 at 16C, easy to score (L3) at L3. Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        Temperature_sensitive: Cold_sensitive: 16 Person_evidence: WBPerson261
              Curator_confirmed: WBPerson712
    Phenotype_not_observed: WBPhenotype:0000039 Paper_evidence: WBPaper00002149
        Curator_confirmed: WBPerson712
        Remark: Adult lifespan was not increased. Animals were allowed to progress through development at 15 degrees C. then shifted to 25.5 degrees C. to determine lifespan. Paper_evidence: WBPaper00002149
            Curator_confirmed: WBPerson712
        Phenotype_assay: Treatment: Animals were raised at 15C and placed at 25.5C as L4 larvae or young adults for the life span assay. Paper_evidence: WBPaper00002149
              Curator_confirmed: WBPerson712
          Temperature: 25.5C Paper_evidence: WBPaper00002149
              Curator_confirmed: WBPerson712
  Reference: WBPaper00002149
    WBPaper00014742
    WBPaper00028386
    WBPaper00015801
    WBPaper00035610
  Method: Substitution_allele