WormBase Tree Display for Variation: WBVar00088927

WBVar00088927 Name: Public_name: mg305
    Other_name: CE43431:p.Tyr260_Gln261insSerCysPheArgCysPheGlyGluAsnValLysArgLysLysPhe
      B0334.8a.1:c.779_780insTTCATGTTTCAGATGTTTTGGAGAAAACGTAAAGCGGAAAAAATT
    HGVSg: CHROMOSOME_II:g.11526137_11526138insAATTTTTTCCGCTTTACGTTTTCTCCAAAACATCTGAAACATGAA
  Sequence_details: SMap: S_parent: Sequence: Y62F5A
    Flanking_sequences: TCCGCTTTACGTTTTCTCCAAAACATCTGA TAACTCAGCTTGGCAGCCTTGACTTTTGAT
    Mapping_target: Y62F5A
    Type_of_mutation: Insertion: AATTTTTTCCGCTTTACGTTTTCTCCAAAACATCTGAAACATGAA Paper_evidence: WBPaper00029062
          Person_evidence: WBPerson3046
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Laboratory: GR
    Status: Live
  Affects: Gene: WBGene00000090
    Transcript: B0334.8a.1 VEP_consequence: inframe_insertion
        VEP_impact: MODERATE
        HGVSc: B0334.8a.1:c.779_780insTTCATGTTTCAGATGTTTTGGAGAAAACGTAAAGCGGAAAAAATT
        HGVSp: CE43431:p.Tyr260_Gln261insSerCysPheArgCysPheGlyGluAsnValLysArgLysLysPhe
        cDNA_position: 779-780
        CDS_position: 779-780
        Protein_position: 260
        Exon_number: 3/10
        Codon_change: tat/taTTCATGTTTCAGATGTTTTGGAGAAAACGTAAAGCGGAAAAAATTt
        Amino_acid_change: Y/YSCFRCFGENVKRKKF
  Genetics: Interpolated_map_position: II 3.61546
  Description: Phenotype: WBPhenotype:0001258 Paper_evidence: WBPaper00026769
        Curator_confirmed: WBPerson557
        Temperature_sensitive: Heat_sensitive: Paper_evidence: WBPaper00026769
              Curator_confirmed: WBPerson557
        Phenotype_assay: Temperature: 25 Paper_evidence: WBPaper00026769
              Curator_confirmed: WBPerson557
      WBPhenotype:0001817 Paper_evidence: WBPaper00028460
        Curator_confirmed: WBPerson1918
        Remark: Animals are defective in learned avoidance of salt concentrations encountered under starvation conditions. Paper_evidence: WBPaper00028460
            Curator_confirmed: WBPerson1918
    Phenotype_not_observed: WBPhenotype:0000436 Paper_evidence: WBPaper00028886
          WBPaper00040857
        Curator_confirmed: WBPerson48
          WBPerson712
        Remark: Localization of the synaptic protein SNB-1 is normal, based on transgene expression analysis. Paper_evidence: WBPaper00028886
            Curator_confirmed: WBPerson48
          Mutation did not cause SNB-1::VENUS localization defects. Paper_evidence: WBPaper00040857
            Curator_confirmed: WBPerson712
  Reference: WBPaper00040857
    WBPaper00028886
    WBPaper00028460
    WBPaper00018238
    WBPaper00011967
    WBPaper00026769
  Remark: Transgenic animals were created by standard microinjection-mediated transformation of plasmid DNA at a final concentration of 25100 g/mL with coinjection markers expressing GFP from either the mec-7 or gcy-7 promoters. Transmitting lines were isolated from second generation (G2) progeny of the injected animals and the transgenic extrachromosomal arrays were crossed into the age-1(mg44) and age-1(mg305) backgrounds for phenotypic characterization. The age-1(mg305) allele contains a 45-nucleotide insertion in exon 3 after nucleotide 809 which results in a 15 amino acid insertion in the AGE-1 ras-binding domain, causing a reduction-of-function phenotype. Paper_evidence: WBPaper00029062
    -ve strand gene so original sequence of the mutation complemented to be +ve strand variant (age-1(mg305) exon 3 - CAACCCCTGTCGAAATTAGAGCTCCACGGCACTTTCCCAATGCTTTTTCTCTACCAACCTGATGGAATAAACAGGGATAAAGAATTAATGAGTGATATAAGTCATTGTCTAGGATACTCACTGGATAAACTGGAAGAGAGCCTCGATGAGGAACTCCGTCAATTTCGTGCTTCTCTCTGGGCTCGTACGAAGAAAACGTGCTTGACACGTGGACTTGAGGGTACCAGTCACTACGCGTTCCCCGAAGAACAGTACTTGTGTGTTGGTGAATCGTGCCCGAAAGATTTGGAATCAAAAGTCAAGGCTGCCAAGCTGAGTTATtcatgtttcagatgttttggagaaaacgtaaagcggaaaaaatttCAGATGTTTTGGAGAAAACGTAAAGCGGAAATCAATGGAGTTTGCGAGAAAATGATGAAGATTCAAATTGAATTCAATCCGAACGAAACTCCGAAATCTCTGCTTCACACGTTTCTCTACGAAATGCGAAAATTGGATGTATACGATACCGATGATCCTGCAGATGAAGGATGGTTTCTTCAATTGGCTGGACGTACCACGTTTGTTACAAATCCAGATGTCAAACTTACGTCTTATGAT)
  Method: Insertion_allele