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 (64)
    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: 4
        30
        35
        36
        204
        205
        242
        245
        279
        312
        343
        345
        360
        365
        373
        420
        431
        432
        433
        435
        438
        439
        443
        446
        447
        449
        450
        452
        499
        505
        510
        511
        512
        515
        517
        518
        566
        572
        573
        576
        719
        720
        814
        958
        963
        976
        977
        986
        1064
        1223
        1274
        1370
        1377
        1446
        1450
        1460
        1481
        1689
        1745
        1747
        1782
        1784
        1890
        1902
        2000
        2001
        2041
        2042
        2089
        2278
        2279
        2280
        2410
        2426
        2456
        3000
        3001
        3002
        3003
        3035
        3038
        3039
        3042
        3045
        3233
        3514
        5458
      In_pos_neg_data: 466
        470
        2514
        5851
        5853
        5963
        8066
        8086
  Description: Phenotype (13)
    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