WormBase Tree Display for Variation: WBVar00142936

WBVar00142936 Evidence: Paper_evidence: WBPaper00005582
  Name: Public_name: e53
    Other_name (13)
    HGVSg: CHROMOSOME_IV:g.5499260C>T
  Sequence_details: SMap: S_parent: Sequence: B0273
    Flanking_sequences: ttgatggaggatggagttcatggagtgatt gagtgcttgctcttcgagttgtcatcggta
    Mapping_target: B0273
    Type_of_mutation: Substitution: g a
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain (49)
    Laboratory: CB
    Status: Live
  Affects: Gene: WBGene00006745
    Transcript: B0273.4f.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: B0273.4f.1:c.62G>A
        HGVSp: CE49300:p.Trp21Ter
        cDNA_position: 62
        CDS_position: 62
        Protein_position: 21
        Exon_number: 1/4
        Codon_change: tGg/tAg
        Amino_acid_change: W/*
      B0273.4e.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: B0273.4e.1:c.347G>A
        HGVSp: CE49455:p.Trp116Ter
        cDNA_position: 347
        CDS_position: 347
        Protein_position: 116
        Exon_number: 2/5
        Codon_change: tGg/tAg
        Amino_acid_change: W/*
      B0273.4c.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: B0273.4c.1:c.932G>A
        HGVSp: CE16791:p.Trp311Ter
        cDNA_position: 932
        CDS_position: 932
        Protein_position: 311
        Exon_number: 6/10
        Codon_change: tGg/tAg
        Amino_acid_change: W/*
      B0273.4a.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: B0273.4a.1:c.848G>A
        HGVSp: CE16790:p.Trp283Ter
        cDNA_position: 850
        CDS_position: 848
        Protein_position: 283
        Exon_number: 6/10
        Codon_change: tGg/tAg
        Amino_acid_change: W/*
      B0273.4d.2 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: B0273.4d.2:c.524G>A
        HGVSp: CE49241:p.Trp175Ter
        cDNA_position: 528
        CDS_position: 524
        Protein_position: 175
        Exon_number: 4/8
        Codon_change: tGg/tAg
        Amino_acid_change: W/*
      B0273.4b.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: B0273.4b.1:c.848G>A
        HGVSp: CE37693:p.Trp283Ter
        cDNA_position: 848
        CDS_position: 848
        Protein_position: 283
        Exon_number: 5/6
        Codon_change: tGg/tAg
        Amino_acid_change: W/*
      B0273.4d.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: B0273.4d.1:c.524G>A
        HGVSp: CE49241:p.Trp175Ter
        cDNA_position: 727
        CDS_position: 524
        Protein_position: 175
        Exon_number: 5/9
        Codon_change: tGg/tAg
        Amino_acid_change: W/*
    Interactor (26)
  Genetics: Interpolated_map_position: IV 1.757
    Mapping_data: In_2_point: 93
        104
        118
        820
        1649
        3270
        3378
        3729
        6088
        7050
      In_multi_point (47)
      In_pos_neg_data: 3700
  Description: Phenotype (20)
    Phenotype_not_observed: WBPhenotype:0000030 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: grows well Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000384 Paper_evidence: WBPaper00036484
          WBPaper00040147
        Curator_confirmed: WBPerson712
        Remark: The primary axon of ADL grows into the nerve ring ventrally rather than laterally. This phenotype occurs at a lower frequency than the axon branching phenotype. AVM axons fail to grow ventrally. HSN motor neurons fail to polarize properly. Paper_evidence: WBPaper00036484
            Curator_confirmed: WBPerson712
          Animals do not exhibit any defects in ventrally-directed HSN axon guidance. Paper_evidence: WBPaper00040147
            Curator_confirmed: WBPerson712
        Penetrance: Incomplete: Paper_evidence: WBPaper00036484
              Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0005661 PATO:0000460 Paper_evidence: WBPaper00036484
                Curator_confirmed: WBPerson712
            WBbt:0006830 PATO:0000460 Paper_evidence: WBPaper00040147
                Curator_confirmed: WBPerson712
      WBPhenotype:0000469 Paper_evidence: WBPaper00004437
        Curator_confirmed: WBPerson2987
        Remark: "We found that unc-5 mutants also had almost normal Q cell migrations (Fig. 2); thus UNC-5 does not appear to be a part of the UNC-40-dependent Q guidance system." Paper_evidence: WBPaper00004437
            Curator_confirmed: WBPerson2987
        EQ_annotations: Anatomy_term: WBbt:0004056 PATO:0000460 Paper_evidence: WBPaper00004437
                Curator_confirmed: WBPerson2987
            WBbt:0004054 PATO:0000460 Paper_evidence: WBPaper00004437
                Curator_confirmed: WBPerson2987
          GO_term: GO:0016477 PATO:0000460 Paper_evidence: WBPaper00004437
                Curator_confirmed: WBPerson2987
      WBPhenotype:0000631 Paper_evidence: WBPaper00035198
        Curator_confirmed: WBPerson712
        Remark: Animals do not exhibit anterior convulsions when treated with pentylenetetrazole(PTZ). Paper_evidence: WBPaper00035198
            Curator_confirmed: WBPerson712
        Variation_effect: Null: Paper_evidence: WBPaper00035198
            Curator_confirmed: WBPerson712
        Affected_by: Molecule: WBMol:00004251 Paper_evidence: WBPaper00035198
              Curator_confirmed: WBPerson712
      WBPhenotype:0000633 Paper_evidence: WBPaper00036484
        Curator_confirmed: WBPerson712
        Remark: ADL projects normal dorsal and ventral branches. Paper_evidence: WBPaper00036484
            Curator_confirmed: WBPerson712
        Penetrance: Incomplete: Paper_evidence: WBPaper00036484
              Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0005661 PATO:0000460 Paper_evidence: WBPaper00036484
                Curator_confirmed: WBPerson712
      WBPhenotype:0001645 Paper_evidence: WBPaper00040284
        Curator_confirmed: WBPerson2987
        Remark: Table 1 Paper_evidence: WBPaper00040284
            Curator_confirmed: WBPerson2987
      WBPhenotype:0001652 Paper_evidence: WBPaper00032446
        Curator_confirmed: WBPerson2021
      WBPhenotype:0001930 Paper_evidence: WBPaper00032907
        Curator_confirmed: WBPerson712
        Remark: Ventral muscle arm extension in animals was indistinguishable from that of wild-type controls. Paper_evidence: WBPaper00032907
            Curator_confirmed: WBPerson712
  Reference: WBPaper00038105
    WBPaper00040041
    WBPaper00040284
    WBPaper00040147
    WBPaper00029020
    WBPaper00031671
    WBPaper00015171
    WBPaper00017709
    WBPaper00032446
    WBPaper00000031
    WBPaper00018249
    WBPaper00035198
    WBPaper00001019
    WBPaper00005809
    WBPaper00016091
    WBPaper00015529
    WBPaper00015530
    WBPaper00004437
    WBPaper00032907
    WBPaper00003665
    WBPaper00016497
    WBPaper00022702
    WBPaper00016299
    WBPaper00016552
    WBPaper00016473
    WBPaper00031828
    WBPaper00036484
    WBPaper00016407
    WBPaper00013812
    WBPaper00032163
    WBPaper00013809
    WBPaper00005582
    WBPaper00026419
    WBPaper00019269
    WBPaper00015081
    WBPaper00011608
    WBPaper00045955
    WBPaper00056066
  Method: Substitution_allele