WormBase Tree Display for Variation: WBVar00094781

WBVar00094781 Evidence: Person_evidence: WBPerson1705
  Name: Public_name: ot16
    Other_name: CE36681:p.Gly610Glu
      B0285.5.3:c.1829G>A
      B0285.5.2:c.1829G>A
      B0285.5.1:c.1829G>A
    HGVSg: CHROMOSOME_III:g.4348971G>A
  Sequence_details: SMap: S_parent: Sequence: B0285
    Flanking_sequences: ttgagtaaaacagcagatcgatggattggatacgcgtatg aaaacgggcaaaacataattaattgttagtaagaaattt
    Mapping_target: B0285
    Type_of_mutation: Substitution: g a
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Laboratory: OH
    Status: Live
  Affects: Gene: WBGene00002003
    Transcript: B0285.5.1 (12)
      B0285.5.3 (12)
      B0285.5.2 (12)
    Interactor: WBInteraction000052327
  Isolation: Mutagen: EMS
    Forward_genetics: clonal F1 modifier screen
  Genetics: Interpolated_map_position: III -3.1845
  Description: Phenotype: WBPhenotype:0000384 Paper_evidence: WBPaper00006471
        Curator_confirmed: WBPerson2021
        Remark: Defects in HSN axon morphology such that one HSN axon inappropriately projects contralaterally Paper_evidence: WBPaper00006471
            Curator_confirmed: WBPerson2021
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00006471
            Curator_confirmed: WBPerson2021
        EQ_annotations: Anatomy_term: WBbt:0006830 PATO:0000460 Paper_evidence: WBPaper00006471
                Curator_confirmed: WBPerson2021
        Phenotype_assay: Genotype: mgIs71 Paper_evidence: WBPaper00006471
              Curator_confirmed: WBPerson2021
      WBPhenotype:0000541 Paper_evidence: WBPaper00006471
        Curator_confirmed: WBPerson2021
        Remark: Roughly half of the commissures that make an incorrect midline choice reach the dorsal nerve cord Paper_evidence: WBPaper00006471
            Curator_confirmed: WBPerson2021
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00006471
            Curator_confirmed: WBPerson2021
        EQ_annotations: Anatomy_term: WBbt:0005303 PATO:0000460 Paper_evidence: WBPaper00006471
                Curator_confirmed: WBPerson2021
            WBbt:0005270 PATO:0000460 Paper_evidence: WBPaper00006471
                Curator_confirmed: WBPerson2021
        Phenotype_assay: Genotype: oxIs12 Paper_evidence: WBPaper00006471
              Curator_confirmed: WBPerson2021
      WBPhenotype:0000632 Paper_evidence: WBPaper00006471
        Curator_confirmed: WBPerson2021
        Remark: Severe defasciculation defects Paper_evidence: WBPaper00006471
            Curator_confirmed: WBPerson2021
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00006471
            Curator_confirmed: WBPerson2021
        EQ_annotations: Anatomy_term: WBbt:0005303 PATO:0000460 Paper_evidence: WBPaper00006471
                Curator_confirmed: WBPerson2021
            WBbt:0005270 PATO:0000460 Paper_evidence: WBPaper00006471
                Curator_confirmed: WBPerson2021
        Phenotype_assay: Genotype: oxIs12 Paper_evidence: WBPaper00006471
              Curator_confirmed: WBPerson2021
      WBPhenotype:0001761 Paper_evidence: WBPaper00006471
        Curator_confirmed: WBPerson2021
        Remark: Midline crossover defects of PVQL and PVQR axons, with either contralateral analog inappropriately crossing the midline Paper_evidence: WBPaper00006471
            Curator_confirmed: WBPerson2021
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00006471
            Curator_confirmed: WBPerson2021
        EQ_annotations: Anatomy_term: WBbt:0006976 PATO:0000460 Paper_evidence: WBPaper00006471
                Curator_confirmed: WBPerson2021
        Phenotype_assay: Genotype: oyIs14 Paper_evidence: WBPaper00006471
              Curator_confirmed: WBPerson2021
      WBPhenotype:0001767 Paper_evidence: WBPaper00006471
        Curator_confirmed: WBPerson2021
        Remark: The midline choice (where the axons turn at the midline either to the left or right) is affected. Paper_evidence: WBPaper00006471
            Curator_confirmed: WBPerson2021
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00006471
            Curator_confirmed: WBPerson2021
        EQ_annotations: Anatomy_term: WBbt:0005303 PATO:0000460 Paper_evidence: WBPaper00006471
                Curator_confirmed: WBPerson2021
            WBbt:0005270 PATO:0000460 Paper_evidence: WBPaper00006471
                Curator_confirmed: WBPerson2021
        Phenotype_assay: Genotype: oxIs12 Paper_evidence: WBPaper00006471
              Curator_confirmed: WBPerson2021
    Phenotype_not_observed: WBPhenotype:0000062 Paper_evidence: WBPaper00006471
        Curator_confirmed: WBPerson2021
        Remark: Non-lethal Paper_evidence: WBPaper00006471
            Curator_confirmed: WBPerson2021
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00006471
            Curator_confirmed: WBPerson2021
      WBPhenotype:0000470 Paper_evidence: WBPaper00006471
        Curator_confirmed: WBPerson2021
        Remark: No defects in HSN migration Paper_evidence: WBPaper00006471
            Curator_confirmed: WBPerson2021
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00006471
            Curator_confirmed: WBPerson2021
        Phenotype_assay: Genotype: mgIs71 Paper_evidence: WBPaper00006471
              Curator_confirmed: WBPerson2021
      WBPhenotype:0000688 Paper_evidence: WBPaper00006471
        Curator_confirmed: WBPerson2021
        Remark: Non-sterile Paper_evidence: WBPaper00006471
            Curator_confirmed: WBPerson2021
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00006471
            Curator_confirmed: WBPerson2021
  Reference: WBPaper00006471
  Remark: The glycine residue that is changed is perfectly conserved and the mutation introduces a negative charge in the positively charged C-terminus. The C-terminus is indispensible for enzymatic activity Person_evidence: WBPerson1705
    Genotype is "mgIs18IV; otIs35X" Person_evidence: WBPerson1705
  Method: Substitution_allele