WormBase Tree Display for Variation: WBVar00088714

WBVar00088714 Evidence: Paper_evidence: WBPaper00005310
  Name: Public_name: m596
    Other_name: Y55D5A.5a.1:c.1639G>A
      CE50312:p.Gly500Ser
      Y55D5A.5c.1:c.1639G>A
      Y55D5A.5e.1:c.1411G>A
      Y55D5A.5d.1:c.1498G>A
      CE46852:p.Gly547Ser
      CE50204:p.Gly547Ser
      CE50158:p.Gly471Ser
    HGVSg: CHROMOSOME_III:g.3012922C>T
  Sequence_details: SMap: S_parent: Sequence: Y55D5A
    Flanking_sequences: gatatatttgcgaacattcacacgatcacc gctacctgttggtacgtcaatcgtcaccgt
    Mapping_target: Y55D5A
    Type_of_mutation: Substitution: g a Paper_evidence: WBPaper00005310
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00006377
      WBStrain00040868
      WBStrain00040869
      WBStrain00040870
      WBStrain00040871
    Laboratory: DR
    Status: Live
  Affects: Gene: WBGene00000898
    Transcript: Y55D5A.5e.1 (12)
      Y55D5A.5a.1 (12)
      Y55D5A.5c.1 (12)
      Y55D5A.5d.1 (12)
    Interactor: WBInteraction000517967
  Genetics: Interpolated_map_position: III -8.05974
  Description: Phenotype: WBPhenotype:0000012 Paper_evidence: WBPaper00035504
        Curator_confirmed: WBPerson2021
        Remark: Severe daf-c at 20C, 23C, and 25C. Strongest allele over e1370 and e1368. Paper_evidence: WBPaper00035504
            Curator_confirmed: WBPerson2021
        Variation_effect: Hypomorph_reduction_of_function: Paper_evidence: WBPaper00035504
            Curator_confirmed: WBPerson2021
      WBPhenotype:0000061 Paper_evidence: WBPaper00032150
          WBPaper00035504
          WBPaper00046170
        Curator_confirmed: WBPerson712
          WBPerson2021
          WBPerson5092
        Remark: The mean lifespans at 20C +/- SE were: N2: 16.70.49; daf-2(m596): 27.61.0. Paper_evidence: WBPaper00032150
            Curator_confirmed: WBPerson712
          Increased longevity compared to N2 Paper_evidence: WBPaper00035504
            Curator_confirmed: WBPerson2021
          compared to N2 at 15C. Longevity at 15C is skn-1 dependent. Paper_evidence: WBPaper00046170
            Curator_confirmed: WBPerson5092
        Variation_effect: Hypomorph_reduction_of_function: Paper_evidence: WBPaper00035504
            Curator_confirmed: WBPerson2021
        Phenotype_assay: Temperature: 20 Paper_evidence: WBPaper00032150
              Curator_confirmed: WBPerson712
      WBPhenotype:0000295 Paper_evidence: WBPaper00035504
        Curator_confirmed: WBPerson2021
        Remark: m596 showed moderate thermotolerance Paper_evidence: WBPaper00035504
            Curator_confirmed: WBPerson2021
        Variation_effect: Hypomorph_reduction_of_function: Paper_evidence: WBPaper00035504
            Curator_confirmed: WBPerson2021
      WBPhenotype:0000717 Paper_evidence: WBPaper00035504
        Curator_confirmed: WBPerson2021
        Remark: The transcriptional profile of daf-2 mutants was altered compared to control Paper_evidence: WBPaper00035504
            Curator_confirmed: WBPerson2021
        Variation_effect: Hypomorph_reduction_of_function: Paper_evidence: WBPaper00035504
            Curator_confirmed: WBPerson2021
      WBPhenotype:0000752 Paper_evidence: WBPaper00037649
        Curator_confirmed: WBPerson712
        Remark: The L2 stage was extended approximately twice the wild-type duration. Paper_evidence: WBPaper00037649
            Curator_confirmed: WBPerson712
      WBPhenotype:0000964 Paper_evidence: WBPaper00037649
        Curator_confirmed: WBPerson712
        Remark: strong resistance Paper_evidence: WBPaper00037649
            Curator_confirmed: WBPerson712
      WBPhenotype:0001184 Paper_evidence: WBPaper00032150
        Curator_confirmed: WBPerson712
        Remark: Worms had mildly increased levels of fat storage (TAGs) compared to N2. Paper_evidence: WBPaper00032150
            Curator_confirmed: WBPerson712
        Phenotype_assay: Treatment: Synchronized L1s were plated on mixed isotope feeding plates composed of 12C- and 13C-enriched E. coli cultures, and collected after 44-48 hr of feeding (worms were harvested as mid-L4 larvae). All experiments were carried out at 20 deg C. Paper_evidence: WBPaper00032150
              Curator_confirmed: WBPerson712
          Temperature: 20 Paper_evidence: WBPaper00032150
              Curator_confirmed: WBPerson712
      WBPhenotype:0001742 Paper_evidence: WBPaper00032150
        Curator_confirmed: WBPerson712
        Remark: Worms had mildly increased levels of synthesized fatty acids compared to N2. Paper_evidence: WBPaper00032150
            Curator_confirmed: WBPerson712
        Phenotype_assay: Treatment: Synchronized L1s were plated on mixed isotope feeding plates composed of 12C- and 13C-enriched E. coli cultures, and collected after 44-48 hr of feeding (worms were harvested as mid-L4 larvae). All experiments were carried out at 20 deg C. Paper_evidence: WBPaper00032150
              Curator_confirmed: WBPerson712
          Temperature: 20 Paper_evidence: WBPaper00032150
              Curator_confirmed: WBPerson712
      WBPhenotype:0001990 Paper_evidence: WBPaper00035504
        Curator_confirmed: WBPerson712
        Remark: m596 showed moderate hypoxia resistance Paper_evidence: WBPaper00035504
            Curator_confirmed: WBPerson712
        Variation_effect: Hypomorph_reduction_of_function: Paper_evidence: WBPaper00035504
            Curator_confirmed: WBPerson712
    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
  Reference: WBPaper00031936
    WBPaper00037649
    WBPaper00032150
    WBPaper00035504
    WBPaper00046170
  Method: Substitution_allele