WormBase Tree Display for Variation: WBVar00278525

WBVar00278525 Evidence: Paper_evidence: WBPaper00036485
  Name: Public_name: ky602
    Other_name: C39F7.2b.1:c.1291C>T
      C39F7.2a.1:c.1291C>T
      CE42345:p.Gln431Ter
      CE27581:p.Gln431Ter
    HGVSg: CHROMOSOME_V:g.1227354G>A
  Sequence_details: SMap: S_parent: Sequence: C39F7
    Flanking_sequences: ctgaaggagccagatccgacggtgtatatg aggtatgtcctgggaaacattgcaaactct
    Mapping_target: C39F7
    Type_of_mutation: Substitution: c t
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Laboratory: CX
    Status: Live
  Affects: Gene: WBGene00016539
    Transcript: C39F7.2a.1 VEP_consequence: stop_gained,splice_region_variant
        VEP_impact: HIGH
        HGVSc: C39F7.2a.1:c.1291C>T
        HGVSp: CE27581:p.Gln431Ter
        cDNA_position: 1302
        CDS_position: 1291
        Protein_position: 431
        Exon_number: 7/15
        Codon_change: Cag/Tag
        Amino_acid_change: Q/*
      C39F7.2b.1 VEP_consequence: stop_gained,splice_region_variant
        VEP_impact: HIGH
        HGVSc: C39F7.2b.1:c.1291C>T
        HGVSp: CE42345:p.Gln431Ter
        cDNA_position: 1312
        CDS_position: 1291
        Protein_position: 431
        Exon_number: 7/14
        Codon_change: Cag/Tag
        Amino_acid_change: Q/*
    Interactor: WBInteraction000504443
  Genetics: Interpolated_map_position: V -19.8477
  Description: Phenotype: WBPhenotype:0000384 Paper_evidence: WBPaper00036484
        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. Axon guidance that relies on repulsive cues occur normally. Paper_evidence: WBPaper00036484
            Curator_confirmed: WBPerson712
        Penetrance: Low: Paper_evidence: WBPaper00036484
              Curator_confirmed: WBPerson712
        Variation_effect: Loss_of_function_undetermined_extent: Paper_evidence: WBPaper00036484
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0005661 PATO:0000460 Paper_evidence: WBPaper00036484
                Curator_confirmed: WBPerson712
            WBbt:0003832 PATO:0000460 Paper_evidence: WBPaper00036484
                Curator_confirmed: WBPerson712
      WBPhenotype:0000633 Paper_evidence: WBPaper00036484
        Curator_confirmed: WBPerson712
        Remark: ADL projects a normal dorsal branch but no ventral branch. This phenotype is also observed in L1 animals. Ventrally extended branches of PLM were either missing or shorter than normal. AVM branching was also defective with about half of the animals showing severely shortened or no branches. Paper_evidence: WBPaper00036484
            Curator_confirmed: WBPerson712
        Penetrance: Incomplete: Paper_evidence: WBPaper00036484
              Curator_confirmed: WBPerson712
        Variation_effect: Loss_of_function_undetermined_extent: Paper_evidence: WBPaper00036484
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0005661 PATO:0000460 Paper_evidence: WBPaper00036484
                Curator_confirmed: WBPerson712
            WBbt:0005490 PATO:0000460 Paper_evidence: WBPaper00036484
                Curator_confirmed: WBPerson712
            WBbt:0003832 PATO:0000460 Paper_evidence: WBPaper00036484
                Curator_confirmed: WBPerson712
      WBPhenotype:0000679 Paper_evidence: WBPaper00036484
        Curator_confirmed: WBPerson712
        Remark: MIG-10::GFP was significantly mislocalized and dispersed around the periphery in HSN. Paper_evidence: WBPaper00036484
            Curator_confirmed: WBPerson712
        Variation_effect: Loss_of_function_undetermined_extent: Paper_evidence: WBPaper00036484
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0005661 PATO:0000460 Paper_evidence: WBPaper00036484
                Curator_confirmed: WBPerson712
      WBPhenotype:0002491 Paper_evidence: WBPaper00036484
        Curator_confirmed: WBPerson712
        Remark: HSN neurons in mutants extend neurites in all directions. Paper_evidence: WBPaper00036484
            Curator_confirmed: WBPerson712
        Variation_effect: Loss_of_function_undetermined_extent: Paper_evidence: WBPaper00036484
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0006830 PATO:0000460 Paper_evidence: WBPaper00036484
                Curator_confirmed: WBPerson712
    Phenotype_not_observed: WBPhenotype:0000104 Paper_evidence: WBPaper00036484
        Curator_confirmed: WBPerson712
        Remark: WNT signaling-based PLM polarity is normal. Paper_evidence: WBPaper00036484
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0005490 PATO:0000460 Paper_evidence: WBPaper00036484
                Curator_confirmed: WBPerson712
      WBPhenotype:0000594 Paper_evidence: WBPaper00036484
        Curator_confirmed: WBPerson712
        Remark: WNT signaling-based HSN cell migration is normal. Paper_evidence: WBPaper00036484
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0006830 PATO:0000460 Paper_evidence: WBPaper00036484
                Curator_confirmed: WBPerson712
      WBPhenotype:0000883 Paper_evidence: WBPaper00036484
        Curator_confirmed: WBPerson712
        Remark: Nerve ring was located correctly in these animals. Paper_evidence: WBPaper00036484
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0006749 PATO:0000460 Paper_evidence: WBPaper00036484
                Curator_confirmed: WBPerson712
  Reference: WBPaper00036484
    WBPaper00036485
  Method: Substitution_allele