WormBase Tree Display for Variation: WBVar00142997

WBVar00142997 Evidence: Paper_evidence: WBPaper00005582
  Name: Public_name: e152
    Other_name (13)
    HGVSg: CHROMOSOME_IV:g.5498135G>A
  Sequence_details: SMap: S_parent: Sequence: B0273
    Flanking_sequences: ttagacacttcacaaaatattgttgctgcg agattgatagcaatggagcacgattgtctt
    Mapping_target: B0273
    Type_of_mutation: Substitution: c t
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00000490
      WBStrain00000502
      WBStrain00000503
      WBStrain00000504
      WBStrain00000657
      WBStrain00004112
      WBStrain00028683
    Laboratory: CB
    Status: Live
  Affects: Gene: WBGene00006745
    Transcript: B0273.4f.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: B0273.4f.1:c.733C>T
        HGVSp: CE49300:p.Gln245Ter
        cDNA_position: 733
        CDS_position: 733
        Protein_position: 245
        Exon_number: 2/4
        Codon_change: Cag/Tag
        Amino_acid_change: Q/*
      B0273.4e.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: B0273.4e.1:c.1018C>T
        HGVSp: CE49455:p.Gln340Ter
        cDNA_position: 1018
        CDS_position: 1018
        Protein_position: 340
        Exon_number: 3/5
        Codon_change: Cag/Tag
        Amino_acid_change: Q/*
      B0273.4c.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: B0273.4c.1:c.1603C>T
        HGVSp: CE16791:p.Gln535Ter
        cDNA_position: 1603
        CDS_position: 1603
        Protein_position: 535
        Exon_number: 7/10
        Codon_change: Cag/Tag
        Amino_acid_change: Q/*
      B0273.4a.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: B0273.4a.1:c.1519C>T
        HGVSp: CE16790:p.Gln507Ter
        cDNA_position: 1521
        CDS_position: 1519
        Protein_position: 507
        Exon_number: 7/10
        Codon_change: Cag/Tag
        Amino_acid_change: Q/*
      B0273.4d.2 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: B0273.4d.2:c.1195C>T
        HGVSp: CE49241:p.Gln399Ter
        cDNA_position: 1199
        CDS_position: 1195
        Protein_position: 399
        Exon_number: 5/8
        Codon_change: Cag/Tag
        Amino_acid_change: Q/*
      B0273.4b.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: B0273.4b.1:c.1519C>T
        HGVSp: CE37693:p.Gln507Ter
        cDNA_position: 1519
        CDS_position: 1519
        Protein_position: 507
        Exon_number: 6/6
        Codon_change: Cag/Tag
        Amino_acid_change: Q/*
      B0273.4d.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: B0273.4d.1:c.1195C>T
        HGVSp: CE49241:p.Gln399Ter
        cDNA_position: 1398
        CDS_position: 1195
        Protein_position: 399
        Exon_number: 6/9
        Codon_change: Cag/Tag
        Amino_acid_change: Q/*
    Interactor (27)
  Genetics: Interpolated_map_position: IV 1.75578
    Mapping_data: In_2_point: 119
        408
        477
        4236
      In_multi_point (25)
  Description: Phenotype: WBPhenotype:0000195 Paper_evidence: WBPaper00005809
        Curator_confirmed: WBPerson2987
        Remark: "The hypomorphic mutation unc-5(e152) causes defects in 12% of anterior and 46% of posterior DTCs (n = 578; Table 1)." Paper_evidence: WBPaper00005809
            Curator_confirmed: WBPerson2987
        Penetrance: Incomplete: Paper_evidence: WBPaper00005809
              Curator_confirmed: WBPerson2987
        Variation_effect: Hypomorph_reduction_of_function: 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
      WBPhenotype:0000384 Paper_evidence: WBPaper00040147
        Curator_confirmed: WBPerson712
        Remark: Mutants displayed a nearly complete failure of dorsally directed VD axons to reach the dorsal cord. Paper_evidence: WBPaper00040147
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0005303 PATO:0000460 Paper_evidence: WBPaper00040147
                Curator_confirmed: WBPerson712
      WBPhenotype:0000539 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: dorsal cord partially formed Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000565 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: weaker phenotype than e53, behaviorally and anatomically, dorsal cord partially formed Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0001984 Paper_evidence: WBPaper00038105
        Curator_confirmed: WBPerson712
        Remark: Animals exhibited a high level of long-range axon migration defects Paper_evidence: WBPaper00038105
            Curator_confirmed: WBPerson712
      WBPhenotype:0001985 Paper_evidence: WBPaper00038105
        Curator_confirmed: WBPerson712
        Remark: Animals exhibited a low level of short-range axon migration defects. Paper_evidence: WBPaper00038105
            Curator_confirmed: WBPerson712
    Phenotype_not_observed: WBPhenotype:0000233 Paper_evidence: WBPaper00000365
        Curator_confirmed: WBPerson712
        Remark: Mutants have within WT levels of Dopamine and Dopa. Paper_evidence: WBPaper00000365
            Curator_confirmed: WBPerson712
      WBPhenotype:0000384 Paper_evidence: WBPaper00040147
        Curator_confirmed: WBPerson712
        Remark: Animals do not exhibit any defects in ventrally-directed HSN axon guidance. Paper_evidence: WBPaper00040147
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0006830 PATO:0000460 Paper_evidence: WBPaper00040147
                Curator_confirmed: WBPerson712
      WBPhenotype:0001518 Paper_evidence: WBPaper00000365
        Curator_confirmed: WBPerson712
        Remark: Formaldehyde induced fluorescence is (FIF) is normal. Paper_evidence: WBPaper00000365
            Curator_confirmed: WBPerson712
  Reference: WBPaper00038105
    WBPaper00040147
    WBPaper00025979
    WBPaper00005809
    WBPaper00016140
    WBPaper00000365
    WBPaper00026419
  Method: Substitution_allele