WormBase Tree Display for Variation: WBVar00089700

WBVar00089700 Evidence: Paper_evidence: WBPaper00002413
  Name: Public_name: n717
    Other_name: C48D1.2b.1:c.562-1G>A
      C48D1.2a.1:c.1210-1G>A
    HGVSg: CHROMOSOME_IV:g.13200009C>T
  Sequence_details: SMap: S_parent: Sequence: C48D1
    Flanking_sequences: tttttaaatgataattaataaatttttgca caagtgtggagaaagaagccgagccaagct
    Mapping_target: C48D1
    Type_of_mutation: Substitution: g a Paper_evidence: WBPaper00002413
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00005600
      WBStrain00005836
      WBStrain00026860
      WBStrain00026968
      WBStrain00027213
      WBStrain00027223
      WBStrain00027232
      WBStrain00027287
      WBStrain00040671
      WBStrain00040674
    Laboratory: MT
    Status: Live
  Affects: Gene: WBGene00000417
    Transcript: C48D1.2a.1 VEP_consequence: splice_acceptor_variant
        VEP_impact: HIGH
        HGVSc: C48D1.2a.1:c.1210-1G>A
        Intron_number: 7/9
      C48D1.2b.1 VEP_consequence: splice_acceptor_variant
        VEP_impact: HIGH
        HGVSc: C48D1.2b.1:c.562-1G>A
        Intron_number: 3/4
    Interactor (29)
  Genetics: Interpolated_map_position: IV 8.46245
    Mapping_data: In_multi_point: 689
        690
        896
      In_pos_neg_data: 831
  Description: Phenotype (15)
    Phenotype_not_observed: WBPhenotype:0000062 Paper_evidence: WBPaper00038332
        Curator_confirmed: WBPerson712
        Remark: Animals produced viable progeny. Paper_evidence: WBPaper00038332
            Curator_confirmed: WBPerson712
      WBPhenotype:0000072 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: No gross phenotype. Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000590 Paper_evidence: WBPaper00038332
        Curator_confirmed: WBPerson712
      WBPhenotype:0000966 Paper_evidence: WBPaper00028759
        Curator_confirmed: WBPerson557
        Remark: germline is immortal at 20 and 25 degrees Celsius Paper_evidence: WBPaper00028759
            Curator_confirmed: WBPerson557
        Phenotype_assay: Treatment: Strains propagated for many generations and checked for sterility Paper_evidence: WBPaper00028759
              Curator_confirmed: WBPerson557
      WBPhenotype:0001381 Paper_evidence: WBPaper00046527
        Curator_confirmed: WBPerson2987
        Remark: ced-3(n717) mutant worms were not resistant to anoxia exposure when fed a glucose-supplemented diet (Figure S1C) Paper_evidence: WBPaper00046527
            Curator_confirmed: WBPerson2987
        Affected_by: Molecule: WBMol:00003916 Paper_evidence: WBPaper00046527
              Curator_confirmed: WBPerson2987
      WBPhenotype:0001650 Paper_evidence: WBPaper00031571
        Curator_confirmed: WBPerson712
        Remark: Germ cells are condensed and unhealthy although not as severely altered as those of at wild type or ced-9 animals. Paper_evidence: WBPaper00031571
            Curator_confirmed: WBPerson712
        Phenotype_assay: Treatment: Animals were grown on plates containing 400nM 5-FU for 12 hours from late L4 stage. Paper_evidence: WBPaper00031571
              Curator_confirmed: WBPerson712
      WBPhenotype:0001651 Paper_evidence: WBPaper00031571
        Curator_confirmed: WBPerson712
        Remark: Animals did not progress to L4 (data not shown). Paper_evidence: WBPaper00031571
            Curator_confirmed: WBPerson712
        Phenotype_assay: Treatment: Embryos were transferred to plates containing 5-FU and remaining larva were counted after 72 hours. Paper_evidence: WBPaper00031571
              Curator_confirmed: WBPerson712
      WBPhenotype:0001851 Paper_evidence: WBPaper00027700
        Curator_confirmed: WBPerson2021
        Remark: Mutants did not display significant radiosensitivity when compared with WT N2 C. elegans Paper_evidence: WBPaper00027700
            Curator_confirmed: WBPerson2021
        EQ_annotations: Anatomy_term: WBbt:0006748 PATO:0000460 Paper_evidence: WBPaper00027700
                Curator_confirmed: WBPerson2021
          Life_stage: WBls:0000041 PATO:0000460 Paper_evidence: WBPaper00027700
                Curator_confirmed: WBPerson2021
        Phenotype_assay: Treatment: 100-400 Gy radiation Paper_evidence: WBPaper00027700
              Curator_confirmed: WBPerson2021
      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: WBPaper00016474
    WBPaper00016510
    WBPaper00038332
    WBPaper00038432
    WBPaper00027269
    WBPaper00016118
    WBPaper00011119
    WBPaper00016322
    WBPaper00011213
    WBPaper00030973
    WBPaper00014787
    WBPaper00028561
    WBPaper00014971
    WBPaper00027700
    WBPaper00022236
    WBPaper00004574
    WBPaper00023668
    WBPaper00017942
    WBPaper00010182
    WBPaper00028759
    WBPaper00023380
    WBPaper00019525
    WBPaper00031571
    WBPaper00032243
    WBPaper00033433
    WBPaper00035076
    WBPaper00010325
    WBPaper00044144
    WBPaper00046527
    WBPaper00050421
    WBPaper00051461
    WBPaper00053621
    WBPaper00065007
  Method: Substitution_allele