WormBase Tree Display for Variation: WBVar00088136

WBVar00088136 Name: Public_name: ju2
    Other_name: F35D2.5a.1:c.1471C>T
      CE33391:p.Arg491Ter
      F35D2.5c.2:c.673C>T
      F35D2.5c.1:c.673C>T
      CE33392:p.Arg225Ter
    HGVSg: CHROMOSOME_II:g.7588281G>A
  Sequence_details: SMap: S_parent: Sequence: R07G3
    Flanking_sequences: taaacttttttgttttcagagcaacaattt gattgtctaatggaagtccgggaagaactg
    Mapping_target: R07G3
    Type_of_mutation: Substitution: c t Paper_evidence: WBPaper00005543
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Laboratory: CZ
    Status: Live
  Affects: Gene: WBGene00006363
    Transcript: F35D2.5c.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: F35D2.5c.1:c.673C>T
        HGVSp: CE33392:p.Arg225Ter
        cDNA_position: 676
        CDS_position: 673
        Protein_position: 225
        Exon_number: 6/11
        Codon_change: Cga/Tga
        Amino_acid_change: R/*
      F35D2.5a.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: F35D2.5a.1:c.1471C>T
        HGVSp: CE33391:p.Arg491Ter
        cDNA_position: 1475
        CDS_position: 1471
        Protein_position: 491
        Exon_number: 14/19
        Codon_change: Cga/Tga
        Amino_acid_change: R/*
      F35D2.5c.2 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: F35D2.5c.2:c.673C>T
        HGVSp: CE33392:p.Arg225Ter
        cDNA_position: 1249
        CDS_position: 673
        Protein_position: 225
        Exon_number: 11/16
        Codon_change: Cga/Tga
        Amino_acid_change: R/*
    Interactor (20)
  Isolation: Mutagen: EMS Paper_evidence: WBPaper00005543
  Genetics: Interpolated_map_position: II 0.504799
    Mapping_data: In_multi_point: 4715
  Description: Phenotype: WBPhenotype:0000566 Paper_evidence: WBPaper00005543
        Curator_confirmed: WBPerson712
        Remark: syd-1 mutant animals coiled ventrally when they moved backwards. Paper_evidence: WBPaper00005543
            Curator_confirmed: WBPerson712
        Variation_effect: Loss_of_function_undetermined_extent: Paper_evidence: WBPaper00005543
            Curator_confirmed: WBPerson712
      WBPhenotype:0000847 Paper_evidence: WBPaper00005543
        Curator_confirmed: WBPerson712
        Remark: There were fewer ventral SNB-1::GFP puncta in mutants than in wild-type animals, and they were slightly irregular in shape. In dorsal cords, the number of puncta was comparable to wild type; however the puncta shape were noticeably abnormal. | In syd-1 mutants, only 3-7 SNB::GFP puncta in ASI axons were observed and distinct SNB::GFP puncta in dendritic regions were detected. Paper_evidence: WBPaper00005543
            Curator_confirmed: WBPerson712
        Variation_effect: Loss_of_function_undetermined_extent: Paper_evidence: WBPaper00005543
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0005666 PATO:0000460 Paper_evidence: WBPaper00005543
                Curator_confirmed: WBPerson712
            WBbt:0005300 PATO:0000460 Paper_evidence: WBPaper00005543
                Curator_confirmed: WBPerson712
            WBbt:0006750 PATO:0000460 Paper_evidence: WBPaper00005543
                Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: juIs1[Punc-25::SNB-1::GFP] Paper_evidence: WBPaper00005543
              Curator_confirmed: WBPerson712
      WBPhenotype:0000905 Paper_evidence: WBPaper00005543
        Curator_confirmed: WBPerson712
        Remark: The overall morphology of DDs and VDs was normal; however, mild abnormalities in ASI were observed, where a single process first emerged from the cell bodies and later branched to form an axon and dendrite, and the axon extended farther posteriorly before looping into the nerve ring. Paper_evidence: WBPaper00005543
            Curator_confirmed: WBPerson712
        Variation_effect: Loss_of_function_undetermined_extent: Paper_evidence: WBPaper00005543
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0005666 PATO:0000460 Paper_evidence: WBPaper00005543
                Curator_confirmed: WBPerson712
      WBPhenotype:0001801 Paper_evidence: WBPaper00005543
        Curator_confirmed: WBPerson712
        Remark: syd-1 affects the polarity of ASI neurons. Paper_evidence: WBPaper00005543
            Curator_confirmed: WBPerson712
        Variation_effect: Loss_of_function_undetermined_extent: Paper_evidence: WBPaper00005543
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0005666 PATO:0000460 Paper_evidence: WBPaper00005543
                Curator_confirmed: WBPerson712
      WBPhenotype:0002232 Paper_evidence: WBPaper00005543
        Curator_confirmed: WBPerson712
        Remark: Polarity of L1 DDs is disrupted in the same way as in the adult VDs in syd-1 mutants; however despite initial polarity defects in juvenile DDs, the polarity of adult DDs seems normal in syd-1 mutants. Paper_evidence: WBPaper00005543
            Curator_confirmed: WBPerson712
        Variation_effect: Loss_of_function_undetermined_extent: Paper_evidence: WBPaper00005543
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0005303 PATO:0000460 Paper_evidence: WBPaper00005543
                Curator_confirmed: WBPerson712
          Life_stage: WBls:0000024 PATO:0000460 Paper_evidence: WBPaper00005543
                Curator_confirmed: WBPerson712
            WBls:0000041 PATO:0000460 Paper_evidence: WBPaper00005543
                Curator_confirmed: WBPerson712
    Phenotype_not_observed (2)
  Reference: WBPaper00005543
  Remark: Flanking sequences refer to F35D2.5c isoform Curator_confirmed: WBPerson1845
  Method: Substitution_allele