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 (38)
  Method: Substitution_allele