WormBase Tree Display for Variation: WBVar00142903

WBVar00142903 Evidence: Paper_evidence: WBPaper00033138
  Name: Public_name: e5
    Other_name (21)
    HGVSg: CHROMOSOME_X:g.15124688G>A
  Sequence_details: SMap: S_parent: Sequence: R07D5
    Flanking_sequences: tccacgtgaaatttattcgcgtagaaatcga aaattggctattaccaatgggtgccgtttat
    Mapping_target: R07D5
    Type_of_mutation: Substitution: c t Paper_evidence: WBPaper00033138
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00004076
      WBStrain00040856
      WBStrain00054742
      WBStrain00056070
    Laboratory: CB
      OJ
    Status: Live
  Affects: Gene: WBGene00006747
    Transcript: R07D5.1i.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: R07D5.1i.1:c.508C>T
        HGVSp: CE51935:p.Gln170Ter
        cDNA_position: 899
        CDS_position: 508
        Protein_position: 170
        Exon_number: 6/12
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
      R07D5.1a.2 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: R07D5.1a.2:c.646C>T
        HGVSp: CE06279:p.Gln216Ter
        cDNA_position: 822
        CDS_position: 646
        Protein_position: 216
        Exon_number: 6/12
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
      R07D5.1f.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: R07D5.1f.1:c.469C>T
        HGVSp: CE51924:p.Gln157Ter
        cDNA_position: 469
        CDS_position: 469
        Protein_position: 157
        Exon_number: 5/10
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
      R07D5.1h.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: R07D5.1h.1:c.508C>T
        HGVSp: CE51942:p.Gln170Ter
        cDNA_position: 508
        CDS_position: 508
        Protein_position: 170
        Exon_number: 5/10
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
      R07D5.1c.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: R07D5.1c.1:c.286C>T
        HGVSp: CE44028:p.Gln96Ter
        cDNA_position: 767
        CDS_position: 286
        Protein_position: 96
        Exon_number: 6/12
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
      R07D5.1b.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: R07D5.1b.1:c.442C>T
        HGVSp: CE44016:p.Gln148Ter
        cDNA_position: 442
        CDS_position: 442
        Protein_position: 148
        Exon_number: 4/9
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
      R07D5.1a.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: R07D5.1a.1:c.646C>T
        HGVSp: CE06279:p.Gln216Ter
        cDNA_position: 723
        CDS_position: 646
        Protein_position: 216
        Exon_number: 7/13
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
      R07D5.1g.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: R07D5.1g.1:c.469C>T
        HGVSp: CE51958:p.Gln157Ter
        cDNA_position: 547
        CDS_position: 469
        Protein_position: 157
        Exon_number: 6/12
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
      R07D5.1d.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: R07D5.1d.1:c.718C>T
        HGVSp: CE51912:p.Gln240Ter
        cDNA_position: 718
        CDS_position: 718
        Protein_position: 240
        Exon_number: 5/10
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
      R07D5.1e.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: R07D5.1e.1:c.718C>T
        HGVSp: CE51947:p.Gln240Ter
        cDNA_position: 718
        CDS_position: 718
        Protein_position: 240
        Exon_number: 5/11
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
      R07D5.1j.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: R07D5.1j.1:c.646C>T
        HGVSp: CE51917:p.Gln216Ter
        cDNA_position: 646
        CDS_position: 646
        Protein_position: 216
        Exon_number: 5/10
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
    Interactor: WBInteraction000518923
      WBInteraction000518930
  Isolation: Mutagen: EMS
  Genetics: Interpolated_map_position: X 22.0113
    Mapping_data: In_2_point: 494
        3170
        3636
        6060
        6165
      In_multi_point: 419
        582
        583
        2417
        2783
        5472
  Description: Phenotype (31)
    Phenotype_not_observed: WBPhenotype:0000637 Paper_evidence: WBPaper00000214
        Curator_confirmed: WBPerson712
      WBPhenotype:0000641 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: active, healthy, e5/Df similar, null phenotype. Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        Variation_effect: Null: Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000672 Paper_evidence: WBPaper00033075
        Curator_confirmed: WBPerson2021
        Remark: The synaptic vesicle markers (SNB-1::GFP and SNG-1::GFP) showed normal morphology, as well as normal number and distribution of dorsal or lateral cord puncta in unc-7 animals Paper_evidence: WBPaper00033075
            Curator_confirmed: WBPerson2021
        Variation_effect: Null: Paper_evidence: WBPaper00033075
            Curator_confirmed: WBPerson2021
      WBPhenotype:0001323 Paper_evidence: WBPaper00033075
        Curator_confirmed: WBPerson2021
        Remark: The synaptic vesicle markers (SNB-1::GFP and SNG-1::GFP) showed normal morphology, as well as normal number and distribution of dorsal or lateral cord puncta in unc-7 animals Paper_evidence: WBPaper00033075
            Curator_confirmed: WBPerson2021
        Variation_effect: Null: Paper_evidence: WBPaper00033075
            Curator_confirmed: WBPerson2021
      WBPhenotype:0001669 Paper_evidence: WBPaper00033075
        Curator_confirmed: WBPerson2021
        Remark: The synaptic vesicle markers (SNB-1::GFP and SNG-1::GFP) showed normal morphology, as well as normal number and distribution of dorsal or lateral cord puncta in unc-7 animals Paper_evidence: WBPaper00033075
            Curator_confirmed: WBPerson2021
        Variation_effect: Null: Paper_evidence: WBPaper00033075
            Curator_confirmed: WBPerson2021
      WBPhenotype:0002014 Paper_evidence: WBPaper00027055
        Curator_confirmed: WBPerson557
        Remark: unc-7(e5) did not inhibit the electrical coupling of body wall muscle cells. Paper_evidence: WBPaper00027055
            Curator_confirmed: WBPerson557
  Reference (11)
  Method: Substitution_allele