WormBase Tree Display for Variation: WBVar00144281

WBVar00144281 Evidence: Paper_evidence: WBPaper00003948
  Name: Public_name: e1752
    Other_name: Y41D4B.13a.1:c.459G>A
      CE28360:p.Trp153Ter
    HGVSg: CHROMOSOME_IV:g.1600197G>A
  Sequence_details: SMap: S_parent: Sequence: Y41D4B
    Flanking_sequences: tttttttccagcaaaaacgaaccaggattg tgggaggcgagaaacgcgttgggaaccact
    Mapping_target: Y41D4B
    Type_of_mutation: Substitution: g a
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00004459
      WBStrain00004482
      WBStrain00027172
      WBStrain00027173
      WBStrain00027276
    Laboratory: CB
    Status: Live
  Affects: Gene: WBGene00000416
    Transcript: Y41D4B.13a.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: Y41D4B.13a.1:c.459G>A
        HGVSp: CE28360:p.Trp153Ter
        cDNA_position: 461
        CDS_position: 459
        Protein_position: 153
        Exon_number: 3/5
        Codon_change: tgG/tgA
        Amino_acid_change: W/*
    Interactor: WBInteraction000052081
      WBInteraction000052084
      WBInteraction000052380
      WBInteraction000052381
      WBInteraction000517331
      WBInteraction000519066
      WBInteraction000519083
      WBInteraction000556871
  Genetics: Interpolated_map_position: IV -16.5924
    Mapping_data: In_2_point: 645
      In_multi_point: 578
        2437
  Description: Phenotype: WBPhenotype:0000241 Paper_evidence: WBPaper00003948
        Curator_confirmed: WBPerson712
      WBPhenotype:0000243 Paper_evidence: WBPaper00050421
        Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
          WBPerson2987
        Remark: killer cells fail to engulf target cells; engulfment group B (ced-2,5,10 : suppress vulvaless phenotype of lin-24, lin-33); extensive maternal rescue Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
          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
        Maternal: With_maternal_effect: Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000301 Paper_evidence: WBPaper00003948
        Curator_confirmed: WBPerson712
        Remark: Distal tip cells did not follow a typical path, resulting in gonad arms that exhibited inappropriate turns, twists, or positions with in the body cavity. Paper_evidence: WBPaper00003948
            Curator_confirmed: WBPerson712
        Penetrance: Incomplete: Paper_evidence: WBPaper00003948
              Curator_confirmed: WBPerson712
      WBPhenotype:0000885 Paper_evidence: WBPaper00001438
          WBPaper00038317
          WBPaper00050047
        Curator_confirmed: WBPerson2021
          WBPerson712
          WBPerson7492
        Remark: Failure to engulf cell corpses Paper_evidence: WBPaper00001438
            Curator_confirmed: WBPerson2021
          Persistent cell corpses accumulate. Paper_evidence: WBPaper00038317
            Curator_confirmed: WBPerson712
          Midbodies not phagocytosed Paper_evidence: WBPaper00050047
            Curator_confirmed: WBPerson7492
        Penetrance: Complete: Paper_evidence: WBPaper00001438
              Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00001438
          Curator_confirmed: WBPerson2021
        EQ_annotations: Anatomy_term: WBbt:0005739 PATO:0000460 Paper_evidence: WBPaper00001438
                Curator_confirmed: WBPerson2021
            WBbt:0003681 PATO:0000460 Paper_evidence: WBPaper00001438
                Curator_confirmed: WBPerson2021
            WBbt:0005741 PATO:0000460 Paper_evidence: WBPaper00001438
                Curator_confirmed: WBPerson2021
            WBbt:0005829 PATO:0000460 Paper_evidence: WBPaper00001438
                Curator_confirmed: WBPerson2021
            WBbt:0003666 PATO:0000460 Paper_evidence: WBPaper00001438
                Curator_confirmed: WBPerson2021
          Life_stage: WBls:0000003 PATO:0000460 Paper_evidence: WBPaper00001438
                Curator_confirmed: WBPerson2021
            WBls:0000037 PATO:0000460 Paper_evidence: WBPaper00001438
                Curator_confirmed: WBPerson2021
        Maternal
      WBPhenotype:0001172 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: programmed cell deaths abnormal, dying cells arrest at highly refractile stage; extensive maternal rescue Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        Maternal: With_maternal_effect: Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        Ease_of_scoring: ES1_Very_hard_to_score: Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
    Phenotype_not_observed: WBPhenotype:0000188 Paper_evidence: WBPaper00003948
        Curator_confirmed: WBPerson712
        Remark: Gonadal arms were as long as those in wild-type animals; germ cells were organized properly as well. Paper_evidence: WBPaper00003948
            Curator_confirmed: WBPerson712
      WBPhenotype:0000520 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: no gross phenotype Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        Maternal: With_maternal_effect: Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0001426 Paper_evidence: WBPaper00004883
        Curator_confirmed: WBPerson712
        Variation_effect: Hypomorph_reduction_of_function: Paper_evidence: WBPaper00004883
            Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: arIs37 Paper_evidence: WBPaper00004883
              Curator_confirmed: WBPerson712
      WBPhenotype:0001652 Paper_evidence: WBPaper00032446
        Curator_confirmed: WBPerson2021
      WBPhenotype:0001656 Paper_evidence: WBPaper00003948
        Curator_confirmed: WBPerson712
        Remark: Initiating and maintaining a trajectory is normal. Paper_evidence: WBPaper00003948
            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 (12)
  Remark: This substitution allele is coupled with a downstream mutation [G192 to E] Paper_evidence: WBPaper00003948
  Method: Substitution_allele