WormBase Tree Display for Variation: WBVar00144891

WBVar00144891 Evidence: Paper_evidence: WBPaper00032007
  Name: Public_name: e2623
    Other_name: CE32368:p.Ser565Phe
      F10E7.4.1:c.1694C>T
    HGVSg: CHROMOSOME_II:g.7119401C>T
  Sequence_details: SMap: S_parent: Sequence: F10E7
    Flanking_sequences: ctgatccattgtgtaagacaactgcatggt cgattggtcaccatgttcagcttcatgtga
    Mapping_target: F10E7
    Type_of_mutation: Substitution: c t
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00005401
    Laboratory: CB
    Status: Live
  Affects: Gene: WBGene00006893
    Transcript: F10E7.4.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        HGVSc: F10E7.4.1:c.1694C>T
        HGVSp: CE32368:p.Ser565Phe
        cDNA_position: 1774
        CDS_position: 1694
        Protein_position: 565
        Exon_number: 11/14
        Codon_change: tCc/tTc
        Amino_acid_change: S/F
  Genetics: Interpolated_map_position: II 0.495452
  Description: Phenotype: WBPhenotype:0000006 Paper_evidence: WBPaper00032007
        Curator_confirmed: WBPerson712
      WBPhenotype:0000062 Paper_evidence: WBPaper00032007
        Curator_confirmed: WBPerson712
        Remark: 4.4% total lethality at 15C (3.3% embryonic lethal, 1.1% larval lethal) (n=1116). Paper_evidence: WBPaper00032007
            Curator_confirmed: WBPerson712
        Penetrance: High: Paper_evidence: WBPaper00032007
              Curator_confirmed: WBPerson712
        EQ_annotations: Life_stage: WBls:0000003 PATO:0000460 Paper_evidence: WBPaper00032007
                Curator_confirmed: WBPerson712
            WBls:0000023 PATO:0000460 Paper_evidence: WBPaper00032007
                Curator_confirmed: WBPerson712
        Temperature_sensitive: Heat_sensitive: Paper_evidence: WBPaper00032007
              Curator_confirmed: WBPerson712
        Phenotype_assay: Temperature: 15 Paper_evidence: WBPaper00032007
              Curator_confirmed: WBPerson712
      WBPhenotype:0000072 Paper_evidence: WBPaper00032007
        Curator_confirmed: WBPerson712
        Remark: Animals exhibited a bent body, which was more apparent during early larval stages. Paper_evidence: WBPaper00032007
            Curator_confirmed: WBPerson712
      WBPhenotype:0000212 Paper_evidence: WBPaper00032007
        Curator_confirmed: WBPerson712
        Remark: Animals exhibited a 'pinched head'. Paper_evidence: WBPaper00032007
            Curator_confirmed: WBPerson712
        EQ_annotations: Life_stage: WBls:0000041 PATO:0000460 Paper_evidence: WBPaper00032007
                Curator_confirmed: WBPerson712
      WBPhenotype:0000409 Paper_evidence: WBPaper00032007
        Curator_confirmed: WBPerson712
        Remark: 10.8% Vab adults. Paper_evidence: WBPaper00032007
            Curator_confirmed: WBPerson712
        Penetrance: High: Paper_evidence: WBPaper00032007
              Curator_confirmed: WBPerson712
        EQ_annotations: Life_stage: WBls:0000041 PATO:0000460 Paper_evidence: WBPaper00032007
                Curator_confirmed: WBPerson712
        Temperature_sensitive: Heat_sensitive: Paper_evidence: WBPaper00032007
              Curator_confirmed: WBPerson712
        Phenotype_assay: Temperature: 15 Paper_evidence: WBPaper00032007
              Curator_confirmed: WBPerson712
      WBPhenotype:0000583 Paper_evidence: WBPaper00032007
        Curator_confirmed: WBPerson712
        Remark: Animals were slightly Dpy. Paper_evidence: WBPaper00032007
            Curator_confirmed: WBPerson712
      WBPhenotype:0000703 Paper_evidence: WBPaper00032007
        Curator_confirmed: WBPerson712
        Remark: L1 and adults exhibited variable epidermal morphology, more pornounced in early larvae. Paper_evidence: WBPaper00032007
            Curator_confirmed: WBPerson712
  Reference: WBPaper00032007
  Method: Substitution_allele