WormBase Tree Display for Variation: WBVar00242584

WBVar00242584 Evidence: Paper_evidence: WBPaper00026767
  Name: Public_name: sa513
    Other_name: CE32438:p.Ser159Ter
      F55B12.5.1:c.476C>G
    HGVSg: CHROMOSOME_V:g.13829196C>G
  Sequence_details: SMap: S_parent: Sequence: F55B12
    Flanking_sequences: ccgtttgcaacgtaactcattccgaacttt actggtgtttccacctggatcaagtttgtc
    Mapping_target: F55B12
    Type_of_mutation: Substitution: c g Paper_evidence: WBPaper00026767
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00022798
    Laboratory: JT
    Status: Live
  Affects: Gene: WBGene00003812
    Transcript: F55B12.5.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: F55B12.5.1:c.476C>G
        HGVSp: CE32438:p.Ser159Ter
        cDNA_position: 478
        CDS_position: 476
        Protein_position: 159
        Exon_number: 4/11
        Codon_change: tCa/tGa
        Amino_acid_change: S/*
  Genetics: Interpolated_map_position: V 5.67658
  Description: Phenotype: WBPhenotype:0000303 Paper_evidence: WBPaper00045871
        Curator_confirmed: WBPerson1869
        Remark: nrf-5(sa513) mutant has defect in chemoattraction to 2,3 butanedione (diacetyl) and isoamyl alcohol Paper_evidence: WBPaper00045871
            Curator_confirmed: WBPerson1869
        Affected_by: Molecule: WBMol:00002819 Paper_evidence: WBPaper00045871
              Curator_confirmed: WBPerson1869
      WBPhenotype:0000304 Paper_evidence: WBPaper00045871
        Curator_confirmed: WBPerson1869
        Remark: nrf-5(sa513) mutant has defect in chemoattraction to 2,3 butanedione (diacetyl) and isoamyl alcohol Paper_evidence: WBPaper00045871
            Curator_confirmed: WBPerson1869
        Affected_by: Molecule: WBMol:00001063 Paper_evidence: WBPaper00045871
              Curator_confirmed: WBPerson1869
      WBPhenotype:0001911 Paper_evidence: WBPaper00046306
        Curator_confirmed: WBPerson9270
        Remark: Table S2 Paper_evidence: WBPaper00046306
            Curator_confirmed: WBPerson9270
      WBPhenotype:0002365 Paper_evidence: WBPaper00046306
        Curator_confirmed: WBPerson9270
        Remark: Table S1 Paper_evidence: WBPaper00046306
            Curator_confirmed: WBPerson9270
    Phenotype_not_observed: WBPhenotype:0000243 Paper_evidence: WBPaper00050421
        Curator_confirmed: WBPerson2987
        Remark: No persistent corpses in the pharynx of L1 (Supplemental Table 1) Paper_evidence: WBPaper00050421
            Curator_confirmed: WBPerson2987
        Variation_effect: Predicted_null_via_sequence: Paper_evidence: WBPaper00050421
            Curator_confirmed: WBPerson2987
        EQ_annotations: Anatomy_term: WBbt:0003681 PATO:0000460 Paper_evidence: WBPaper00050421
                Curator_confirmed: WBPerson2987
          Life_stage: WBls:0000024 PATO:0000460 Paper_evidence: WBPaper00050421
                Curator_confirmed: WBPerson2987
      WBPhenotype:0001426 Paper_evidence: WBPaper00004883
        Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: arIs37 Paper_evidence: WBPaper00004883
              Curator_confirmed: WBPerson712
      WBPhenotype:0002486 Paper_evidence: WBPaper00050421
        Curator_confirmed: WBPerson2987
        Remark: "Mutations in genes within the ced-1/6/7 pathway (ced-1, ced-7, nrf-5, ttr-52), the ced-2/5/12 pathway (ced-2, ced-5), or both pathways (ced-1;ced-2 and ced-7;ced-5) did not cause PGC lobes to persist in L1 larvae (Supplementary Table 1), indicating that ced-10 functions in PGC lobe scission in a different context than it does in cell corpse engulfment." (PGC = 'primordial germ cell') Paper_evidence: WBPaper00050421
            Curator_confirmed: WBPerson2987
        Variation_effect: Predicted_null_via_sequence: Paper_evidence: WBPaper00050421
            Curator_confirmed: WBPerson2987
        EQ_annotations: Anatomy_term: WBbt:0004576 PATO:0000460 Paper_evidence: WBPaper00050421
                Curator_confirmed: WBPerson2987
            WBbt:0004575 PATO:0000460 Paper_evidence: WBPaper00050421
                Curator_confirmed: WBPerson2987
          Life_stage: WBls:0000024 PATO:0000460 Paper_evidence: WBPaper00050421
                Curator_confirmed: WBPerson2987
        Phenotype_assay: Treatment: All strains include the xnIs360 or xnSi1 transgenes to visualize PGC membranes. Paper_evidence: WBPaper00050421
              Curator_confirmed: WBPerson2987
  Reference: WBPaper00004883
    WBPaper00045871
    WBPaper00046306
    WBPaper00050421
  Method: Substitution_allele