WormBase Tree Display for Variation: WBVar00145377

WBVar00145377 Evidence: Paper_evidence: WBPaper00016048
  Name: Public_name: g43
    Other_name: F32H2.5.1:c.4273G>A
      CE42777:p.Ala1425Thr
    HGVSg: CHROMOSOME_I:g.8979703C>T
  Sequence_details: SMap: S_parent: Sequence: F32H2
    Flanking_sequences: GTTGTTGAAGTTACCTCTCAATACGAAATT CTCTTGCCATTGAAGGACTTCTTGGAAATG
    Mapping_target: F32H2
    Type_of_mutation: Substitution: g a
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00007838
    Laboratory: RC
    Status: Live
  Affects: Gene: WBGene00009342
    Transcript: F32H2.5.1 (12)
  Isolation: Mutagen: EMS
  Genetics: Interpolated_map_position: I 3.34631
    Mapping_data: In_2_point: 566
      In_multi_point: 512
  Description: Phenotype: WBPhenotype:0000050 Paper_evidence: WBPaper00046507
        Person_evidence: WBPerson205
        Curator_confirmed: WBPerson712
          WBPerson557
        Remark: Embryonic lethal phenotype apparent at 24C and not at 15C. Paper_evidence: WBPaper00046507
            Curator_confirmed: WBPerson557
        Penetrance: Complete: Person_evidence: WBPerson205
              Curator_confirmed: WBPerson712
        Recessive: Person_evidence: WBPerson205
          Curator_confirmed: WBPerson712
        Temperature_sensitive: Heat_sensitive: Person_evidence: WBPerson205
              Curator_confirmed: WBPerson712
            24C Paper_evidence: WBPaper00046507
              Curator_confirmed: WBPerson557
        Phenotype_assay: Temperature: 24 Paper_evidence: WBPaper00046507
              Curator_confirmed: WBPerson557
      WBPhenotype:0000059 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: Escapers arrest as larvae. Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        Temperature_sensitive: Heat_sensitive: 25 Person_evidence: WBPerson261
              Curator_confirmed: WBPerson712
      WBPhenotype:0000154 Paper_evidence: WBPaper00059615
        Curator_confirmed: WBPerson712
        Remark: g43 embryos failed to hatch at 25C, while the wildtype embryos hatched >98% (Fig. 1C). Brood size was defined as the sum of hatched larvae and unhatched dead embryos. g43ts is the tightest and most penetrant of the three fasn-1 alleles, g14, fr8, g43. Paper_evidence: WBPaper00059615
            Curator_confirmed: WBPerson712
        Temperature_sensitive: Heat_sensitive: 25 Paper_evidence: WBPaper00059615
              Curator_confirmed: WBPerson712
      WBPhenotype:0000365 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: Osmotically sensitive eggs at 25C. Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        Temperature_sensitive: Heat_sensitive: 25 Person_evidence: WBPerson261
              Curator_confirmed: WBPerson712
      WBPhenotype:0000691 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: L1 temperature shift-up results in some gonad abnormality. Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        Temperature_sensitive: Heat_sensitive: 25 Person_evidence: WBPerson261
              Curator_confirmed: WBPerson712
      WBPhenotype:0000867 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: At 25C 100% eggs arrest during proliferation. Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        Temperature_sensitive: Heat_sensitive: 25 Person_evidence: WBPerson261
              Curator_confirmed: WBPerson712
      WBPhenotype:0001414 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: At 16C viable poor male mating. Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        Phenotype_assay: Temperature: 16 Person_evidence: WBPerson261
              Curator_confirmed: WBPerson712
      WBPhenotype:0002075 Paper_evidence: WBPaper00059615
        Curator_confirmed: WBPerson712
        Remark: N2 embryos were not permeable to DAPI (other than the first polar body; Fig. 1F) while fasn-1(g43ts) embryos were highlypermeable. g43ts is the tightest and most penetrant of the three fasn-1 alleles, g14, fr8, g43. Paper_evidence: WBPaper00059615
            Curator_confirmed: WBPerson712
        Temperature_sensitive: Heat_sensitive: 25 Paper_evidence: WBPaper00059615
              Curator_confirmed: WBPerson712
  Reference: WBPaper00016048
    WBPaper00059615
    WBPaper00046507
  Remark: Manually curated Gene associations preserved as a text remark so that VEP is the canonical predictor of consequence: WBGene00009342 Missense 1425 A1425T Person_evidence: WBPerson205"
        WBPerson205
  Method: Substitution_allele