WormBase Tree Display for Variation: WBVar00090363

WBVar00090363 Name: Public_name: n2161
    Other_name: T07C4.8.1:c.514-1G>A
    HGVSg: CHROMOSOME_III:g.10336263G>A
  Sequence_details: SMap: S_parent: Sequence: T07C4
    Flanking_sequences: acgaattaaattgcaaatttctaattttca ataggtctaatctcgttcggcggtttcgta
    Mapping_target: T07C4
    Type_of_mutation: Substitution: g a Person_evidence: WBPerson566
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00027213
      WBStrain00027218
    Laboratory: MT
    Status: Live
  Linked_to: WBVar00090307
  Affects: Gene: WBGene00000423
    Transcript: T07C4.8.1 VEP_consequence: splice_acceptor_variant
        VEP_impact: HIGH
        HGVSc: T07C4.8.1:c.514-1G>A
        Intron_number: 2/4
  Isolation: Mutagen: EMS
  Genetics: Interpolated_map_position: III 2.35728
  Description: Phenotype: WBPhenotype:0000062 Person_evidence: WBPerson566
        Curator_confirmed: WBPerson712
        Remark: Maternal effect lethality. Isolation described in Hengartner, Ellis, and Horvitz, Nature 356:494-499, 1992 (WBPaper00001529). Mutation sequenced by Brendan Galvin. In some assays, ced-9(n1950 n2161) is not as strong a loss-of-function mutation as ced-9(n2812). Isolated as a cis-suppressor of ced-9(n1950gf) and linked to unc-69(e587). Person_evidence: WBPerson566
            Curator_confirmed: WBPerson712
        Penetrance: Complete: Person_evidence: WBPerson566
              Curator_confirmed: WBPerson712
        Recessive: Person_evidence: WBPerson566
          Curator_confirmed: WBPerson712
        Variation_effect: Hypomorph_reduction_of_function: Person_evidence: WBPerson566
            Curator_confirmed: WBPerson712
        Maternal
        Phenotype_assay: Genotype: unc-69(e587) ced-9(n1950 n2161); ced-3(n717) Person_evidence: WBPerson566
              Curator_confirmed: WBPerson712
      WBPhenotype:0001172 Person_evidence: WBPerson566
        Curator_confirmed: WBPerson712
        Remark: Ectopic cell death. Isolation described in Hengartner, Ellis, and Horvitz, Nature 356:494-499, 1992 (WBPaper00001529). Mutation sequenced by Brendan Galvin. In some assays, ced-9(n1950 n2161) is not as strong a loss-of-function mutation as ced-9(n2812). Isolated as a cis-suppressor of ced-9(n1950gf) and linked to unc-69(e587). Person_evidence: WBPerson566
            Curator_confirmed: WBPerson712
        Penetrance: Complete: Person_evidence: WBPerson566
              Curator_confirmed: WBPerson712
        Recessive: Person_evidence: WBPerson566
          Curator_confirmed: WBPerson712
        Variation_effect: Hypomorph_reduction_of_function: Person_evidence: WBPerson566
            Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: unc-69(e587) ced-9(n1950 n2161); ced-3(n717) Person_evidence: WBPerson566
              Curator_confirmed: WBPerson712
  Method: Substitution_allele