WormBase Tree Display for Variation: WBVar00143214

WBVar00143214 Evidence: Person_evidence: WBPerson201
  Name: Public_name: e444
    Other_name (24)
    HGVSg: CHROMOSOME_II:g.14657426G>A
  Sequence_details: SMap: S_parent: Sequence: ZC101
    Flanking_sequences: cttctttccgtggcacctggctcaccagca gattcaactgtgtcgcgcactcggacactc
    Mapping_target: ZC101
    Type_of_mutation: Substitution: c t Person_evidence: WBPerson201
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain (269)
    Laboratory: CB
    Status: Live
  Affects: Gene: WBGene00006787
    Transcript (13)
    Interactor: WBInteraction000502394
      WBInteraction000518886
      WBInteraction000538517
      WBInteraction000538522
  Genetics: Interpolated_map_position: II 23.3112
    Mapping_data: In_2_point (13)
      In_multi_point (14)
      In_pos_neg_data: 1539
        1548
        1551
        2132
        2147
        2156
        2168
  Description: Phenotype: WBPhenotype:0000006 Person_evidence: WBPerson201
        Curator_confirmed: WBPerson48
        Remark: Adults are partially egg-laying defective. Person_evidence: WBPerson201
            Curator_confirmed: WBPerson48
        Penetrance: Complete: Person_evidence: WBPerson201
              Curator_confirmed: WBPerson48
        Recessive: Person_evidence: WBPerson201
          Curator_confirmed: WBPerson48
        Variation_effect: Hypomorph_reduction_of_function: Person_evidence: WBPerson201
            Curator_confirmed: WBPerson48
        EQ_annotations: Life_stage: WBls:0000057 PATO:0000460 Person_evidence: WBPerson201
                Curator_confirmed: WBPerson48
      WBPhenotype:0000164 Person_evidence: WBPerson201
          WBPerson261
        Curator_confirmed: WBPerson48
          WBPerson712
        Remark: Adults are thin. Person_evidence: WBPerson201
            Curator_confirmed: WBPerson48
        Penetrance: Complete: Person_evidence: WBPerson201
              Curator_confirmed: WBPerson48
        Recessive: Person_evidence: WBPerson201
          Curator_confirmed: WBPerson48
        Variation_effect: Hypomorph_reduction_of_function: Person_evidence: WBPerson201
            Curator_confirmed: WBPerson48
        EQ_annotations: Life_stage: WBls:0000041 PATO:0000460 Person_evidence: WBPerson201
                  WBPerson261
                Curator_confirmed: WBPerson48
                  WBPerson712
      WBPhenotype:0000349 Person_evidence: WBPerson201
        Curator_confirmed: WBPerson48
        Remark: Adults are limp. Person_evidence: WBPerson201
            Curator_confirmed: WBPerson48
        Penetrance: Complete: Person_evidence: WBPerson201
              Curator_confirmed: WBPerson48
        Recessive: Person_evidence: WBPerson201
          Curator_confirmed: WBPerson48
        Variation_effect: Hypomorph_reduction_of_function: Person_evidence: WBPerson201
            Curator_confirmed: WBPerson48
        EQ_annotations: Life_stage: WBls:0000041 PATO:0000460 Person_evidence: WBPerson201
                Curator_confirmed: WBPerson48
      WBPhenotype:0000473 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: adults limp, paralysed except for head region; thin; Egl; larvae move well; progressive dystrophy, body muscles fail to accumulate myofilaments. Class 1 allele. Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        EQ_annotations: Life_stage: WBls:0000041 PATO:0000460 Person_evidence: WBPerson261
                Curator_confirmed: WBPerson712
        Ease_of_scoring: ES3_Easy_to_score: Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000509 Paper_evidence: WBPaper00000536
        Curator_confirmed: WBPerson712
        Remark: Only 0.8% of sperm have pseudopods, all of which have normal morphology. Paper_evidence: WBPaper00000536
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0006798 PATO:0000460 Paper_evidence: WBPaper00000536
                Curator_confirmed: WBPerson712
      WBPhenotype:0000553 Paper_evidence: WBPaper00002086
        Curator_confirmed: WBPerson528
      WBPhenotype:0000640 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        EQ_annotations: Life_stage: WBls:0000041 PATO:0000460 Person_evidence: WBPerson261
                Curator_confirmed: WBPerson712
      WBPhenotype:0000781 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: body muscles fail to accumulate myofilaments Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        EQ_annotations: Life_stage: WBls:0000041 PATO:0000460 Person_evidence: WBPerson261
                Curator_confirmed: WBPerson712
      WBPhenotype:0000818 Paper_evidence: WBPaper00002086
        Curator_confirmed: WBPerson528
      WBPhenotype:0000868 Person_evidence: WBPerson201
        Curator_confirmed: WBPerson48
        Remark: Adults are paralysed (except for head region). Person_evidence: WBPerson201
            Curator_confirmed: WBPerson48
        Penetrance: Complete: Person_evidence: WBPerson201
              Curator_confirmed: WBPerson48
        Recessive: Person_evidence: WBPerson201
          Curator_confirmed: WBPerson48
        Variation_effect: Hypomorph_reduction_of_function: Person_evidence: WBPerson201
            Curator_confirmed: WBPerson48
        EQ_annotations: Life_stage: WBls:0000041 PATO:0000460 Person_evidence: WBPerson201
                Curator_confirmed: WBPerson48
    Phenotype_not_observed: WBPhenotype:0000060 Paper_evidence: WBPaper00002086
        Curator_confirmed: WBPerson528
      WBPhenotype:0000195 Paper_evidence: WBPaper00005809
        Curator_confirmed: WBPerson2987
        Remark: "Not all class I alleles enhanced the DTC defects of weak unc-5 alleles. For example, unc-52(e444) did not enhance unc-5(e152) (Table 1; P > 0.1)." Paper_evidence: WBPaper00005809
            Curator_confirmed: WBPerson2987
          "All class I unc-52 alleles (except e444) strongly enhanced the penetrance of DTC migration defects of a null allele of unc-5 (Table 1)." Paper_evidence: WBPaper00005809
            Curator_confirmed: WBPerson2987
        EQ_annotations: Anatomy_term: WBbt:0006865 PATO:0000460 Paper_evidence: WBPaper00005809
                Curator_confirmed: WBPerson2987
          GO_term: GO:0016477 PATO:0000460 Paper_evidence: WBPaper00005809
                Curator_confirmed: WBPerson2987
        Phenotype_assay: Genotype: unc-5(e152) Paper_evidence: WBPaper00005809
              Curator_confirmed: WBPerson2987
            unc-5(e53) Paper_evidence: WBPaper00005809
              Curator_confirmed: WBPerson2987
      WBPhenotype:0000643 Person_evidence: WBPerson201
        Curator_confirmed: WBPerson48
        Remark: Larvae move well until early L4 stage. Person_evidence: WBPerson201
            Curator_confirmed: WBPerson48
        EQ_annotations: Life_stage: WBls:0000024 PATO:0000460 Person_evidence: WBPerson201
                Curator_confirmed: WBPerson48
            WBls:0000027 PATO:0000460 Person_evidence: WBPerson201
                Curator_confirmed: WBPerson48
            WBls:0000035 PATO:0000460 Person_evidence: WBPerson201
                Curator_confirmed: WBPerson48
      WBPhenotype:0000706 Paper_evidence: WBPaper00025094
        Curator_confirmed: WBPerson2021
        Remark: Mutations did not result in Glo phenotypes Paper_evidence: WBPaper00025094
            Curator_confirmed: WBPerson2021
        Phenotype_assay: Treatment: Staining with LysoTracker Red and acridine orange Paper_evidence: WBPaper00025094
              Curator_confirmed: WBPerson2021
  Reference (22)
  Remark: Created by WBPerson51134 from the NN_VFP_triage_pipeline
    Variation stub/paper connection generated from the May 2021 NN VFP dataset.
  Method: Substitution_allele