WormBase Tree Display for Variation: WBVar00088391

WBVar00088391 Evidence: Paper_evidence: WBPaper00005620
  Name: Public_name: ky27
    Other_name (16)
    HGVSg: CHROMOSOME_IV:g.1875810C>T
  Sequence_details: SMap: S_parent: Sequence: F55A8
    Flanking_sequences: gaggaggtccgtacagccaatattattgca aagctccaggagttgaagtacttactttgg
    Mapping_target: F55A8
    Type_of_mutation: Substitution: c t
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Laboratory: CX
    Status: Live
  Affects: Gene: WBGene00001173
    Transcript: F55A8.2g.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: F55A8.2g.1:c.328C>T
        HGVSp: CE49110:p.Gln110Ter
        cDNA_position: 328
        CDS_position: 328
        Protein_position: 110
        Exon_number: 3/5
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
      F55A8.2e.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: F55A8.2e.1:c.1105C>T
        HGVSp: CE37241:p.Gln369Ter
        cDNA_position: 1322
        CDS_position: 1105
        Protein_position: 369
        Exon_number: 9/12
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
      F55A8.2d.1 VEP_consequence: intron_variant
        VEP_impact: MODIFIER
        HGVSc: F55A8.2d.1:c.492+2118C>T
        Intron_number: 3/3
      F55A8.2f.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: F55A8.2f.1:c.286C>T
        HGVSp: CE37242:p.Gln96Ter
        cDNA_position: 414
        CDS_position: 286
        Protein_position: 96
        Exon_number: 4/6
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
      F55A8.2b.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: F55A8.2b.1:c.1087C>T
        HGVSp: CE19898:p.Gln363Ter
        cDNA_position: 1087
        CDS_position: 1087
        Protein_position: 363
        Exon_number: 8/10
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
      F55A8.2c.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: F55A8.2c.1:c.1123C>T
        HGVSp: CE31541:p.Gln375Ter
        cDNA_position: 1123
        CDS_position: 1123
        Protein_position: 375
        Exon_number: 8/11
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
      F55A8.2h.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: F55A8.2h.1:c.1225C>T
        HGVSp: CE48610:p.Gln409Ter
        cDNA_position: 1225
        CDS_position: 1225
        Protein_position: 409
        Exon_number: 8/11
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
      F55A8.2a.2 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: F55A8.2a.2:c.1216C>T
        HGVSp: CE19897:p.Gln406Ter
        cDNA_position: 1216
        CDS_position: 1216
        Protein_position: 406
        Exon_number: 8/12
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
      F55A8.2a.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: F55A8.2a.1:c.1216C>T
        HGVSp: CE19897:p.Gln406Ter
        cDNA_position: 1216
        CDS_position: 1216
        Protein_position: 406
        Exon_number: 8/11
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
  Genetics: Interpolated_map_position: IV -14.2734
  Description: Phenotype (17)
    Phenotype_not_observed: WBPhenotype:0000249 Paper_evidence: WBPaper00004310
        Curator_confirmed: WBPerson2021
        Remark: egl-4 mutants were found to be wild type in their responses to osmotic shock (data not shown). Paper_evidence: WBPaper00004310
            Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00004310
          Curator_confirmed: WBPerson2021
      WBPhenotype:0000302 Paper_evidence: WBPaper00004310
        Curator_confirmed: WBPerson2021
        Remark: egl-4 mutants have normal responses to the odorant benzaldehyde Paper_evidence: WBPaper00004310
            Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00004310
          Curator_confirmed: WBPerson2021
        Affected_by: Molecule: WBMol:00002087 Paper_evidence: WBPaper00004310
              Curator_confirmed: WBPerson2021
      WBPhenotype:0000398 Paper_evidence: WBPaper00004310
        Curator_confirmed: WBPerson2021
        Remark: egl-4 mutants were found to be wild type in their responses to gentle body touch (data not shown). Paper_evidence: WBPaper00004310
            Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00004310
          Curator_confirmed: WBPerson2021
      WBPhenotype:0000660 Paper_evidence: WBPaper00004310
        Curator_confirmed: WBPerson2021
        Remark: egl-4 mutants exhibit little if any clumpy behavior (iwhere animals tend to congregate in clumps) Paper_evidence: WBPaper00004310
            Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00004310
          Curator_confirmed: WBPerson2021
      WBPhenotype:0001086 Paper_evidence: WBPaper00004310
        Curator_confirmed: WBPerson2021
        Remark: All egl-4 mutants except n478 exhibit wild-type response to trimethylthiazole Paper_evidence: WBPaper00004310
            Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00004310
          Curator_confirmed: WBPerson2021
        Affected_by: Molecule: WBMol:00004538 Paper_evidence: WBPaper00004310
              Curator_confirmed: WBPerson2021
      WBPhenotype:0001221 Paper_evidence: WBPaper00004310
        Curator_confirmed: WBPerson2021
        Remark: egl-4 mutants were found to be wild type in their responses to nose touch (data not shown). Paper_evidence: WBPaper00004310
            Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00004310
          Curator_confirmed: WBPerson2021
      WBPhenotype:0001448 Paper_evidence: WBPaper00004310
        Curator_confirmed: WBPerson2021
        Remark: egl-4 mutants were found to be wild type in their responses to volatile repellents (data not shown). Paper_evidence: WBPaper00004310
            Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00004310
          Curator_confirmed: WBPerson2021
      WBPhenotype:0002535 Paper_evidence: WBPaper00004310
        Curator_confirmed: WBPerson2021
        Remark: egl-4 mutants dye-fill normally and no obvious defects in the morphology of the neurons were visible (data not shown). Paper_evidence: WBPaper00004310
            Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00004310
          Curator_confirmed: WBPerson2021
  Reference: WBPaper00004310
  Method: Substitution_allele