WormBase Tree Display for Variation: WBVar00241515

WBVar00241515 Evidence: Paper_evidence: WBPaper00003027
  Name: Public_name: rh40
    Other_name: F55C7.7i.1:c.3647C>T
      F55C7.7b.1:c.3647C>T
      CE36937:p.Ser1216Phe
      F55C7.7a.1:c.3647C>T
      F55C7.7i.2:c.3647C>T
      CE19465:p.Ser1216Phe
      CE19464:p.Ser1216Phe
    HGVSg: CHROMOSOME_I:g.4022591G>A
  Sequence_details: SMap: S_parent: Sequence: F55C7
    Flanking_sequences: tgcttgagccaatgcgagagcttattcaat cgaacgggattatatcaaagatctcgagaga
    Mapping_target: F55C7
    Type_of_mutation: Substitution: c t Paper_evidence: WBPaper00003027
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00024129
      WBStrain00024156
      WBStrain00024163
    Laboratory: NJ
    Status: Live
  Affects: Gene: WBGene00006805
    Transcript: F55C7.7i.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        HGVSc: F55C7.7i.1:c.3647C>T
        HGVSp: CE36937:p.Ser1216Phe
        cDNA_position: 3647
        CDS_position: 3647
        Protein_position: 1216
        Exon_number: 14/26
        Codon_change: tCc/tTc
        Amino_acid_change: S/F
      F55C7.7b.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        HGVSc: F55C7.7b.1:c.3647C>T
        HGVSp: CE19465:p.Ser1216Phe
        cDNA_position: 3647
        CDS_position: 3647
        Protein_position: 1216
        Exon_number: 14/21
        Codon_change: tCc/tTc
        Amino_acid_change: S/F
      F55C7.7a.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        HGVSc: F55C7.7a.1:c.3647C>T
        HGVSp: CE19464:p.Ser1216Phe
        cDNA_position: 3759
        CDS_position: 3647
        Protein_position: 1216
        Exon_number: 15/34
        Codon_change: tCc/tTc
        Amino_acid_change: S/F
      F55C7.7i.2 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        HGVSc: F55C7.7i.2:c.3647C>T
        HGVSp: CE36937:p.Ser1216Phe
        cDNA_position: 3647
        CDS_position: 3647
        Protein_position: 1216
        Exon_number: 14/25
        Codon_change: tCc/tTc
        Amino_acid_change: S/F
    Interactor: WBInteraction000501033
      WBInteraction000502105
      WBInteraction000503920
      WBInteraction000542211
      WBInteraction000542212
  Isolation: Mutagen: EMS
  Genetics: Interpolated_map_position: I -1.85712
    Mapping_data: In_2_point: 6045
      In_multi_point: 2091
        2097
  Description: Phenotype: WBPhenotype:0000016 Paper_evidence: WBPaper00035198
        Curator_confirmed: WBPerson712
        Variation_effect: Hypomorph_reduction_of_function: Paper_evidence: WBPaper00035198
            Curator_confirmed: WBPerson712
        Affected_by: Molecule: WBMol:00003650 Paper_evidence: WBPaper00035198
              Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0007833 PATO:0001549 Paper_evidence: WBPaper00035198
                Curator_confirmed: WBPerson712
      WBPhenotype:0000232 Paper_evidence: WBPaper00032941
        Curator_confirmed: WBPerson2021
        Remark: rh40 mutation frequently resulted in defective ALM and CAN migration Paper_evidence: WBPaper00032941
            Curator_confirmed: WBPerson2021
        EQ_annotations: Anatomy_term: WBbt:0006827 PATO:0000460 Paper_evidence: WBPaper00032941
                Curator_confirmed: WBPerson2021
      WBPhenotype:0000471 Paper_evidence: WBPaper00032941
        Curator_confirmed: WBPerson2021
        Remark: rh40 mutation frequently resulted in defective ALM and CAN migration Paper_evidence: WBPaper00032941
            Curator_confirmed: WBPerson2021
        EQ_annotations: Anatomy_term: WBbt:0005406 PATO:0000460 Paper_evidence: WBPaper00032941
                Curator_confirmed: WBPerson2021
      WBPhenotype:0000571 Paper_evidence: WBPaper00035198
        Curator_confirmed: WBPerson712
        Remark: Synaptic vesicles are misaccumulated in GABAergic D-type motor neurons as assayed by gaps in the pattern of fluorescence of juIs1[Punc-25::SNB-1::GFP] labeled vesicles. Paper_evidence: WBPaper00035198
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0005190 PATO:0000460 Paper_evidence: WBPaper00035198
                Curator_confirmed: WBPerson712
            WBbt:0005303 PATO:0000460 Paper_evidence: WBPaper00035198
                Curator_confirmed: WBPerson712
            WBbt:0005270 PATO:0000460 Paper_evidence: WBPaper00035198
                Curator_confirmed: WBPerson712
      WBPhenotype:0000631 Paper_evidence: WBPaper00035198
        Curator_confirmed: WBPerson712
        Remark: Animals exhibit anterior convulsions when treated with pentylenetetrazole(PTZ). Paper_evidence: WBPaper00035198
            Curator_confirmed: WBPerson712
        Affected_by: Molecule: WBMol:00004251 Paper_evidence: WBPaper00035198
              Curator_confirmed: WBPerson712
      WBPhenotype:0000882 Paper_evidence: WBPaper00056964
        Curator_confirmed: WBPerson48777
        Remark: Primary dendrite outgrowth reduced. Fig S2A Paper_evidence: WBPaper00056964
            Curator_confirmed: WBPerson48777
          3° dendrites that fail to self-avoid and overgrow one another. Fig 3C. Paper_evidence: WBPaper00056964
            Curator_confirmed: WBPerson48777
        Penetrance: Incomplete: Paper_evidence: WBPaper00056964
              Curator_confirmed: WBPerson48777
        EQ_annotations: Anatomy_term: WBbt:0006831 PATO:0000460 Paper_evidence: WBPaper00056964
                Curator_confirmed: WBPerson48777
        Phenotype_assay: Control_strain: WBStrain00047813 Paper_evidence: WBPaper00056964
              Curator_confirmed: WBPerson48777
          Genotype: wdIs52 (pF49H12.4::GFP) Paper_evidence: WBPaper00056964
              Curator_confirmed: WBPerson48777
      WBPhenotype:0000944 Paper_evidence: WBPaper00049729
        Curator_confirmed: WBPerson24243
        Remark: Figure 1, PLM anterior neurite was shortened in the mutants in the mutants. Paper_evidence: WBPaper00049729
            Curator_confirmed: WBPerson24243
        EQ_annotations: Anatomy_term: WBbt:0005490 PATO:0000460 Paper_evidence: WBPaper00049729
                Curator_confirmed: WBPerson24243
          GO_term: GO:0043005 PATO:0002364 Paper_evidence: WBPaper00049729
                Curator_confirmed: WBPerson24243
      WBPhenotype:0001278 Paper_evidence: WBPaper00032941
        Curator_confirmed: WBPerson2021
        Remark: Quantification of the amount of SAX-3::GFP in ALMs and BDUs cells revealed that the levels appeared to be lower in embryos that contained the unc-73 mutation Paper_evidence: WBPaper00032941
            Curator_confirmed: WBPerson2021
        EQ_annotations: Anatomy_term: WBbt:0005406 PATO:0000460 Paper_evidence: WBPaper00032941
                Curator_confirmed: WBPerson2021
            WBbt:0006826 PATO:0000460 Paper_evidence: WBPaper00032941
                Curator_confirmed: WBPerson2021
        Phenotype_assay: Genotype: gmIs28 [Pmec- 7::sax-3::gfp] Paper_evidence: WBPaper00032941
              Curator_confirmed: WBPerson2021
      WBPhenotype:0002259 Paper_evidence: WBPaper00056964
        Curator_confirmed: WBPerson48777
        Remark: Reduced number of secondary dendrites. Fig S2B. Paper_evidence: WBPaper00056964
            Curator_confirmed: WBPerson48777
        Penetrance: Incomplete: Paper_evidence: WBPaper00056964
              Curator_confirmed: WBPerson48777
        EQ_annotations: Anatomy_term: WBbt:0006831 PATO:0000460 Paper_evidence: WBPaper00056964
                Curator_confirmed: WBPerson48777
        Phenotype_assay: Control_strain: WBStrain00047813 Paper_evidence: WBPaper00056964
              Curator_confirmed: WBPerson48777
          Genotype: wdIs52 (pF49H12.4::GFP) Paper_evidence: WBPaper00056964
              Curator_confirmed: WBPerson48777
  Disease_info: Models_disease: DOID:1826
    Models_disease_in_annotation: WBDOannot00000554
  Reference: WBPaper00035198
    WBPaper00014129
    WBPaper00032941
    WBPaper00017425
    WBPaper00023401
    WBPaper00023679
    WBPaper00022729
    WBPaper00049729
    WBPaper00056964
  Method: Substitution_allele