WormBase Tree Display for Variation: WBVar00241554

WBVar00241554 Evidence: Paper_evidence: WBPaper00037788
  Name: Public_name: rh142
    Other_name: CE48050:p.Gln997Ter
      C52E12.2a.1:c.2989C>T
      C52E12.2b.1:c.3130C>T
      CE47855:p.Gln1044Ter
      C52E12.2a.2:c.2989C>T
    HGVSg: CHROMOSOME_II:g.7007403C>T
  Sequence_details: SMap: S_parent: Sequence: C52E12
    Flanking_sequences: ttttatcatatccaggtatttggacatttc aaccaaaaagtgaacagttcaatttcgaaa
    Mapping_target: C52E12
    Type_of_mutation: Substitution: c t Paper_evidence: WBPaper00037788
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00028847
    Laboratory: NJ
    Status: Live
  Affects: Gene: WBGene00006831
    Transcript: C52E12.2a.2 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: C52E12.2a.2:c.2989C>T
        HGVSp: CE48050:p.Gln997Ter
        cDNA_position: 2991
        CDS_position: 2989
        Protein_position: 997
        Exon_number: 18/24
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
      C52E12.2b.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: C52E12.2b.1:c.3130C>T
        HGVSp: CE47855:p.Gln1044Ter
        cDNA_position: 3330
        CDS_position: 3130
        Protein_position: 1044
        Exon_number: 19/25
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
      C52E12.2a.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: C52E12.2a.1:c.2989C>T
        HGVSp: CE48050:p.Gln997Ter
        cDNA_position: 3125
        CDS_position: 2989
        Protein_position: 997
        Exon_number: 18/24
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
  Genetics: Interpolated_map_position: II 0.244357
    Mapping_data: In_2_point: 6169
      In_multi_point: 2424
  Description: Phenotype: WBPhenotype:0000032 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: sublethal Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000517 Paper_evidence: WBPaper00001424
        Curator_confirmed: WBPerson233
        Remark: several unc-104 alleles showed deficits in locomotion, feeding rate and defecation that varied in proportion to changes in synaptic vesicle transport within axons Paper_evidence: WBPaper00001424
            Curator_confirmed: WBPerson233
      WBPhenotype:0000672 Paper_evidence: WBPaper00001424
        Curator_confirmed: WBPerson233
        Remark: Figures 3 and 4 show changes in localization of synaptic vesicles in unc-104 alleles, with most vesicles concentrated in the neuron soma, while failing to reach chemical synaptic locales in the nerve ring Paper_evidence: WBPaper00001424
            Curator_confirmed: WBPerson233
    Phenotype_not_observed: WBPhenotype:0001661 Paper_evidence: WBPaper00039901
        Curator_confirmed: WBPerson712
        Remark: Mutants of more severe alleles of unc-104 also did not cause 2AWC-ON. Paper_evidence: WBPaper00039901
            Curator_confirmed: WBPerson712
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00039901
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0005672 PATO:0000460 Paper_evidence: WBPaper00039901
                Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: [str-2p::GFP] Paper_evidence: WBPaper00039901
              Curator_confirmed: WBPerson712
  Reference: WBPaper00014849
    WBPaper00039901
    WBPaper00001424
    WBPaper00014401
    WBPaper00037788
  Method: Substitution_allele