WormBase Tree Display for Variation: WBVar00142935

WBVar00142935 Name: Public_name: e51
    Other_name (18)
    HGVSg: CHROMOSOME_I:g.7434408C>T
  Sequence_details: SMap: S_parent: Sequence: C44E1
    Flanking_sequences: AAGATGACACTCACCAATATGATGAAGTTGATCGTGGATCC GAGTATCTTTCACAAGAACACCATCAGTAGATAGAACAG
    Mapping_target: C44E1
    Type_of_mutation: Substitution: C T Person_evidence: WBPerson26471
    SeqStatus: Sequenced
  Variation_type: Engineered_allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00000461
      WBStrain00000462
      WBStrain00000463
      WBStrain00000465
      WBStrain00000466
      WBStrain00000467
      WBStrain00000468
      WBStrain00000469
      WBStrain00000470
      WBStrain00000471
      WBStrain00000472
      WBStrain00000473
      WBStrain00000474
      WBStrain00000477
      WBStrain00000481
      WBStrain00000482
      WBStrain00000483
      WBStrain00000493
      WBStrain00003935
      WBStrain00003938
      WBStrain00004086
      WBStrain00004960
      WBStrain00005004
      WBStrain00006206
      WBStrain00006261
      WBStrain00007186
      WBStrain00007300
      WBStrain00007986
      WBStrain00007987
      WBStrain00008014
      WBStrain00022553
      WBStrain00022567
      WBStrain00022569
      WBStrain00022576
      WBStrain00023813
      WBStrain00023902
      WBStrain00023924
      WBStrain00023925
      WBStrain00023926
      WBStrain00023927
      WBStrain00023928
      WBStrain00023929
      WBStrain00023930
      WBStrain00023931
      WBStrain00023936
      WBStrain00023941
      WBStrain00023942
      WBStrain00027013
      WBStrain00027039
      WBStrain00027077
      WBStrain00027308
      WBStrain00028972
      WBStrain00030685
      WBStrain00033905
      WBStrain00034438
      WBStrain00034776
      WBStrain00034777
      WBStrain00040443
      WBStrain00047195
      WBStrain00050644
      WBStrain00050645
      WBStrain00055671
      WBStrain00057280
      WBStrain00057282
    Laboratory: CB
      KR
      NCA
    Person: WBPerson26471
    Status: Live
  Linked_to: WBVar02146566
  Affects: Gene: WBGene00006752
    Transcript: ZK524.2e.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: ZK524.2e.1:c.1411C>T
        HGVSp: CE34626:p.Arg471Ter
        cDNA_position: 1411
        CDS_position: 1411
        Protein_position: 471
        Exon_number: 11/30
        Codon_change: Cga/Tga
        Amino_acid_change: R/*
      ZK524.2c.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: ZK524.2c.1:c.388C>T
        HGVSp: CE34624:p.Arg130Ter
        cDNA_position: 388
        CDS_position: 388
        Protein_position: 130
        Exon_number: 3/22
        Codon_change: Cga/Tga
        Amino_acid_change: R/*
      ZK524.2f.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: ZK524.2f.1:c.1420C>T
        HGVSp: CE43866:p.Arg474Ter
        cDNA_position: 1420
        CDS_position: 1420
        Protein_position: 474
        Exon_number: 11/30
        Codon_change: Cga/Tga
        Amino_acid_change: R/*
      ZK524.2j.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: ZK524.2j.1:c.1375C>T
        HGVSp: CE51718:p.Arg459Ter
        cDNA_position: 1375
        CDS_position: 1375
        Protein_position: 459
        Exon_number: 11/29
        Codon_change: Cga/Tga
        Amino_acid_change: R/*
      ZK524.2k.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: ZK524.2k.1:c.1366C>T
        HGVSp: CE51726:p.Arg456Ter
        cDNA_position: 1366
        CDS_position: 1366
        Protein_position: 456
        Exon_number: 11/29
        Codon_change: Cga/Tga
        Amino_acid_change: R/*
      ZK524.2a.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: ZK524.2a.1:c.1411C>T
        HGVSp: CE15371:p.Arg471Ter
        cDNA_position: 1411
        CDS_position: 1411
        Protein_position: 471
        Exon_number: 11/30
        Codon_change: Cga/Tga
        Amino_acid_change: R/*
      ZK524.2i.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: ZK524.2i.1:c.1420C>T
        HGVSp: CE32552:p.Arg474Ter
        cDNA_position: 1420
        CDS_position: 1420
        Protein_position: 474
        Exon_number: 11/29
        Codon_change: Cga/Tga
        Amino_acid_change: R/*
      ZK524.2d.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: ZK524.2d.1:c.1411C>T
        HGVSp: CE34625:p.Arg471Ter
        cDNA_position: 1411
        CDS_position: 1411
        Protein_position: 471
        Exon_number: 11/31
        Codon_change: Cga/Tga
        Amino_acid_change: R/*
      ZK524.2h.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: ZK524.2h.1:c.388C>T
        HGVSp: CE51759:p.Arg130Ter
        cDNA_position: 388
        CDS_position: 388
        Protein_position: 130
        Exon_number: 3/21
        Codon_change: Cga/Tga
        Amino_acid_change: R/*
    Interactor: WBInteraction000518950
  Isolation: Mutagen: EMS
  Genetics: Interpolated_map_position: I 2.07389
    Mapping_data: In_2_point (20)
      In_multi_point (87)
      In_pos_neg_data: 466
        470
        2514
        5851
        5853
        5963
        8066
        8086
  Description: Phenotype: WBPhenotype:0000002 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
      WBPhenotype:0000017 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: Ric Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000020 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
      WBPhenotype:0000061 Paper_evidence: WBPaper00058720
        Curator_confirmed: WBPerson26471
      WBPhenotype:0000180 Paper_evidence: WBPaper00006029
        Curator_confirmed: WBPerson712
        Remark: 71/168 adult animals showed defects as visualized by unc-47::GFP. Paper_evidence: WBPaper00006029
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0004822 PATO:0000460 Paper_evidence: WBPaper00006029
                Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: oxIs12 Paper_evidence: WBPaper00006029
              Curator_confirmed: WBPerson712
      WBPhenotype:0000229 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
      WBPhenotype:0000436 Paper_evidence: WBPaper00028886
        Curator_confirmed: WBPerson48
        Remark: Localization of the synaptic protein SNB-1 is weakly abnormal, based on expression analysis of SNB-1::VENUS. Paper_evidence: WBPaper00028886
            Curator_confirmed: WBPerson48
      WBPhenotype:0000507 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: high acetylcholine levels Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000604 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: variable neuroanatomical defects Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000634 Paper_evidence: WBPaper00000031
        Curator_confirmed: WBPerson48
        Remark: pharyngeal movement irregular. Paper_evidence: WBPaper00000031
            Curator_confirmed: WBPerson48
      WBPhenotype:0000644 Paper_evidence: WBPaper00000031
        Person_evidence: WBPerson261
        Curator_confirmed: WBPerson48
          WBPerson712
        Ease_of_scoring: ES3_Easy_to_score: Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0001645 Paper_evidence: WBPaper00004117
        Curator_confirmed: WBPerson1754
        Remark: Increased levels of protein degradation in muscle in response to starvation Paper_evidence: WBPaper00004117
            Curator_confirmed: WBPerson1754
      WBPhenotype:0002490 Paper_evidence: WBPaper00006029
        Curator_confirmed: WBPerson712
        Remark: 71/168 adult animals showed defects as visualized by unc-47::GFP. Paper_evidence: WBPaper00006029
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0004822 PATO:0000460 Paper_evidence: WBPaper00006029
                Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: oxIs12 Paper_evidence: WBPaper00006029
              Curator_confirmed: WBPerson712
    Phenotype_not_observed: WBPhenotype:0000640 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: able to lay eggs Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0001426 Paper_evidence: WBPaper00030754
          WBPaper00004883
        Curator_confirmed: WBPerson712
        Remark: as measured by fluorescence levels of ANF::GFP in coelomocytes Paper_evidence: WBPaper00030754
            Curator_confirmed: WBPerson712
        Variation_effect: Hypomorph_reduction_of_function: Paper_evidence: WBPaper00004883
            Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: EG3683 unc-13(e51) oxIs206[Paex-3:ANF::GFP] Paper_evidence: WBPaper00030754
              Curator_confirmed: WBPerson712
            arIs37 Paper_evidence: WBPaper00004883
              Curator_confirmed: WBPerson712
      WBPhenotype:0001512 Paper_evidence: WBPaper00031992
        Curator_confirmed: WBPerson712
        Remark: ON-OFF asymmetry of ASEL and ASER was preserved in each of these animals. Paper_evidence: WBPaper00031992
            Curator_confirmed: WBPerson712
      WBPhenotype:0001645 Paper_evidence: WBPaper00040284
        Curator_confirmed: WBPerson2987
        Remark: Table S2 Paper_evidence: WBPaper00040284
            Curator_confirmed: WBPerson2987
  Reference (29)
  Remark: Old Mapping_target ZK524 updated based on the VEP analysis pipeline to C44E1.
    Manually curated Gene associations preserved as a text remark so that VEP is the canonical predictor of consequence: WBGene00006752 Opal_UGA R to STOP Person_evidence: WBPerson26471"
        WBPerson26471
  Method: Substitution_allele