WormBase Tree Display for Variation: WBVar00091463

WBVar00091463 Evidence: Paper_evidence: WBPaper00005122
  Name: Public_name: oj55
    Other_name: CE03028:p.Ser441Leu
      CE30881:p.Ser441Leu
      C26D10.5b.1:c.1322C>T
      C26D10.5a.1:c.1322C>T
    HGVSg: CHROMOSOME_II:g.8348391C>T
  Sequence_details: SMap: S_parent: Sequence: C26D10
    Flanking_sequences: gattgttcaacttgacagtatatgaggcttctggaaaaattgatggat agtgaagatgtcaactggatttggatctgatacaattcacacattcactgcttatgttagtgatcttcatgcttcaaaccgttctatgattattccactgccagcca
    Mapping_target: C26D10
    Type_of_mutation: Substitution: c t
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00040368
      WBStrain00040369
    Laboratory: WH
    Status: Live
  Affects: Gene: WBGene00001159
    Transcript: C26D10.5a.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        HGVSc: C26D10.5a.1:c.1322C>T
        HGVSp: CE03028:p.Ser441Leu
        cDNA_position: 1326
        CDS_position: 1322
        Protein_position: 441
        Exon_number: 8/10
        Codon_change: tCa/tTa
        Amino_acid_change: S/L
      C26D10.5b.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        HGVSc: C26D10.5b.1:c.1322C>T
        HGVSp: CE30881:p.Ser441Leu
        cDNA_position: 1332
        CDS_position: 1322
        Protein_position: 441
        Exon_number: 8/10
        Codon_change: tCa/tTa
        Amino_acid_change: S/L
  Genetics: Interpolated_map_position: II 0.764006
  Description: Phenotype: WBPhenotype:0000072 Paper_evidence: WBPaper00005122
        Curator_confirmed: WBPerson2021
        Remark: Mutation results in viable worms that show severe body morphology defects Paper_evidence: WBPaper00005122
            Curator_confirmed: WBPerson2021
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00005122
            Curator_confirmed: WBPerson2021
        Phenotype_assay: Temperature: 15C, 20C, 25C Paper_evidence: WBPaper00005122
              Curator_confirmed: WBPerson2021
          Genotype: jcIs1 [ajm-1::GFP] Paper_evidence: WBPaper00005122
              Curator_confirmed: WBPerson2021
      WBPhenotype:0000165 Paper_evidence: WBPaper00005122
        Curator_confirmed: WBPerson2021
        Remark: Most epidermal cells derived the ventral P cells failed to fuse to hyp7 Paper_evidence: WBPaper00005122
            Curator_confirmed: WBPerson2021
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00005122
            Curator_confirmed: WBPerson2021
        EQ_annotations: Anatomy_term: WBbt:0006772 PATO:0000460 Paper_evidence: WBPaper00005122
                Curator_confirmed: WBPerson2021
            WBbt:0006773 PATO:0000460 Paper_evidence: WBPaper00005122
                Curator_confirmed: WBPerson2021
            WBbt:0006777 PATO:0000460 Paper_evidence: WBPaper00005122
                Curator_confirmed: WBPerson2021
          Life_stage: WBls:0000024 PATO:0000460 Paper_evidence: WBPaper00005122
                Curator_confirmed: WBPerson2021
            WBls:0000027 PATO:0000460 Paper_evidence: WBPaper00005122
                Curator_confirmed: WBPerson2021
            WBls:0000035 PATO:0000460 Paper_evidence: WBPaper00005122
                Curator_confirmed: WBPerson2021
            WBls:0000038 PATO:0000460 Paper_evidence: WBPaper00005122
                Curator_confirmed: WBPerson2021
            WBls:0000041 PATO:0000460 Paper_evidence: WBPaper00005122
                Curator_confirmed: WBPerson2021
        Phenotype_assay: Temperature: 15C, 20C, 25C Paper_evidence: WBPaper00005122
              Curator_confirmed: WBPerson2021
          Genotype: jcIs1 [ajm-1::GFP] Paper_evidence: WBPaper00005122
              Curator_confirmed: WBPerson2021
      WBPhenotype:0000166 Paper_evidence: WBPaper00005122
        Curator_confirmed: WBPerson2021
        Remark: Most epidermal cells derived from lateral seam failed to fuse to hyp7 Paper_evidence: WBPaper00005122
            Curator_confirmed: WBPerson2021
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00005122
            Curator_confirmed: WBPerson2021
        EQ_annotations: Anatomy_term: WBbt:0005753 PATO:0000460 Paper_evidence: WBPaper00005122
                Curator_confirmed: WBPerson2021
          Life_stage: WBls:0000024 PATO:0000460 Paper_evidence: WBPaper00005122
                Curator_confirmed: WBPerson2021
            WBls:0000027 PATO:0000460 Paper_evidence: WBPaper00005122
                Curator_confirmed: WBPerson2021
            WBls:0000035 PATO:0000460 Paper_evidence: WBPaper00005122
                Curator_confirmed: WBPerson2021
            WBls:0000038 PATO:0000460 Paper_evidence: WBPaper00005122
                Curator_confirmed: WBPerson2021
            WBls:0000041 PATO:0000460 Paper_evidence: WBPaper00005122
                Curator_confirmed: WBPerson2021
        Phenotype_assay: Temperature: 15C, 20C, 25C Paper_evidence: WBPaper00005122
              Curator_confirmed: WBPerson2021
          Genotype: jcIs1 [ajm-1::GFP] Paper_evidence: WBPaper00005122
              Curator_confirmed: WBPerson2021
      WBPhenotype:0000702 Paper_evidence: WBPaper00005122
        Curator_confirmed: WBPerson2021
        Remark: eff-1 (oj55) mutant embryos fail in all epidermal cell fusions Paper_evidence: WBPaper00005122
            Curator_confirmed: WBPerson2021
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00005122
            Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000003 PATO:0000460 Paper_evidence: WBPaper00005122
                Curator_confirmed: WBPerson2021
        Phenotype_assay: Temperature: 15C, 20C, 25C Paper_evidence: WBPaper00005122
              Curator_confirmed: WBPerson2021
          Genotype: jcIs1 [ajm-1::GFP] Paper_evidence: WBPaper00005122
              Curator_confirmed: WBPerson2021
  Reference: WBPaper00027244
    WBPaper00019568
    WBPaper00005122
    WBPaper00017872
    WBPaper00023445
  Method: Substitution_allele