WormBase Tree Display for Variation: WBVar00145348

WBVar00145348 Evidence: Paper_evidence: WBPaper00032966
  Name: Public_name: ft15
    Other_name: CE39527:p.Glu116Lys
      W10G6.2a.1:c.346G>A
      W10G6.2b.1:c.376G>A
      CE39528:p.Glu126Lys
      W10G6.2a.2:c.346G>A
    HGVSg: CHROMOSOME_X:g.16258923C>T
  Sequence_details: SMap: S_parent: Sequence: W10G6
    Flanking_sequences: gatgagaataatgttgatctcggaccaagt agaggaaaacgtatgttttggccataaggat
    Mapping_target: W10G6
    Type_of_mutation: Substitution: g a Paper_evidence: WBPaper00032966
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00023654
      WBStrain00023656
    Laboratory: KQ
    Status: Live
  Affects: Gene: WBGene00004789
    Transcript: W10G6.2b.1 (12)
      W10G6.2a.1 (12)
      W10G6.2a.2 (12)
    Interactor: WBInteraction000537334
      WBInteraction000537335
      WBInteraction000537360
      WBInteraction000537361
      WBInteraction000537362
      WBInteraction000537371
  Genetics: Interpolated_map_position: X 23.7003
  Description: Phenotype: WBPhenotype:0001171 Paper_evidence: WBPaper00045812
        Curator_confirmed: WBPerson2987
        Remark: Table S1 Paper_evidence: WBPaper00045812
            Curator_confirmed: WBPerson2987
      WBPhenotype:0001236 Paper_evidence: WBPaper00045812
        Curator_confirmed: WBPerson2987
        Remark: "On the contrary, Phsp-6::gfp, expression was enhanced in the sgk-1(ft15) gain of function mutants (Figure 3), which live shorter (Figure 1B), upon prohibitin depletion." Paper_evidence: WBPaper00045812
            Curator_confirmed: WBPerson2987
        EQ_annotations: GO_term: GO:0034514 PATO:0000460 Paper_evidence: WBPaper00045812
                Curator_confirmed: WBPerson2987
        Phenotype_assay: Genotype: Phsp-6::gfp; phb-1(RNAi) Paper_evidence: WBPaper00045812
              Curator_confirmed: WBPerson2987
    Phenotype_not_observed: WBPhenotype:0000120 Paper_evidence: WBPaper00045812
        Curator_confirmed: WBPerson2987
        Remark: "Although we did not observe any significant effect on mitochondrial function using the ATP and mitochondrial membrane potential assays, interestingly, Western Blot analysis revealed that sgk-1(ok538) and rict-1(ft7) mutants have reduced protein levels of PHB-1 (Figure 8). In contrast, daf-2(e1370) and daf-2(e1370); sgk-1(ok538) loss of function mutants did not show any alteration in the PHB-1 protein levels (Figure 8). Likewise, the gain of function of sgk-1(ft15) animals did not show an alteration in the protein content of PHB-1 (Figure 8)." Paper_evidence: WBPaper00045812
            Curator_confirmed: WBPerson2987
      WBPhenotype:0000231 Paper_evidence: WBPaper00032966
        Curator_confirmed: WBPerson2021
        Remark: sgk-1 (ft15) mutants displayed wild-type body size Paper_evidence: WBPaper00032966
            Curator_confirmed: WBPerson2021
        Semi_dominant: Paper_evidence: WBPaper00032966
          Curator_confirmed: WBPerson2021
        Variation_effect: Hypermorph_gain_of_function: Paper_evidence: WBPaper00032966
            Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000041 PATO:0000460 Paper_evidence: WBPaper00032966
                Curator_confirmed: WBPerson2021
      WBPhenotype:0001182 Paper_evidence: WBPaper00032966
        Curator_confirmed: WBPerson2021
        Remark: sgk-1 (ft15) mutants displayed wild-type fat content Paper_evidence: WBPaper00032966
            Curator_confirmed: WBPerson2021
        Semi_dominant: Paper_evidence: WBPaper00032966
          Curator_confirmed: WBPerson2021
        Variation_effect: Hypermorph_gain_of_function: Paper_evidence: WBPaper00032966
            Curator_confirmed: WBPerson2021
        Phenotype_assay: Treatment: Nile Red staining Paper_evidence: WBPaper00032966
              Curator_confirmed: WBPerson2021
  Reference: WBPaper00032966
    WBPaper00045812
  Method: Substitution_allele