WormBase Tree Display for Variation: WBVar00266623

WBVar00266623 Evidence: Paper_evidence: WBPaper00003969
      WBPaper00024641
  Name: Public_name: u253
    Other_name: CE39109:p.Thr148_Asp268del
      T01C8.7.1:c.440_802del
    HGVSg: CHROMOSOME_X:g.16805906_16806268del
  Sequence_details: SMap: S_parent: Sequence: F41G4
    Flanking_sequences: gtgctccttactgagcttttttatttccag gtgagtgttgcatgtcaaatgagcatcgcg
    Mapping_target: F41G4
    Type_of_mutation: Deletion
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00035037
    Laboratory: TU
    Status: Live
  Affects: Gene: WBGene00003168
    Transcript: T01C8.7.1 VEP_consequence: inframe_deletion,splice_region_variant
        VEP_impact: MODERATE
        HGVSc: T01C8.7.1:c.440_802del
        HGVSp: CE39109:p.Thr148_Asp268del
        cDNA_position: 441-803
        CDS_position: 440-802
        Protein_position: 147-268
        Exon_number: 4/17
        Codon_change: gACACTGCACCTTTTCCAGCAATTACGCTTTGTAATTTGAATCCTTACAAAGCAAGTTTAGCAACAAGCGTGGATTTAGTAAAGCGAACGTTGTCAGCATTTGATGGAGCAATGGGAAAAGCCGGAGGAAACAAAGATCACGAAGAGGAACGCGAAGTTGTCACCGAACCACCCACCACCCCTGCACCCACCACAAAACCGGCACGTCGTCGAGGAAAACGTGATTTATCTGGAGCATTTTTTGAGCCAGGATTTGCAAGATGCCTTTGTGGAAGCCAAGGGTCTAGTGAGCAAGAGGATAAGGATGAGGAGAAGGAGGAAGAGTTACTTGAAACAACTACCAAAAAGGTATTTAATATTAATGat/gat
        Amino_acid_change: DTAPFPAITLCNLNPYKASLATSVDLVKRTLSAFDGAMGKAGGNKDHEEEREVVTEPPTTPAPTTKPARRRGKRDLSGAFFEPGFARCLCGSQGSSEQEDKDEEKEEELLETTTKKVFNIND/D
  Isolation: Mutagen: EMS Paper_evidence: WBPaper00003969
  Genetics: Interpolated_map_position: X 24.0629
  Description: Phenotype: WBPhenotype:0000315 Paper_evidence: WBPaper00053740
        Curator_confirmed: WBPerson31209
        Remark: response to ultrasound stimulation significantly different from wild-type. Paper_evidence: WBPaper00053740
            Curator_confirmed: WBPerson31209
      WBPhenotype:0000646 Paper_evidence: WBPaper00039982
        Curator_confirmed: WBPerson712
        Remark: mec-4(u253) complete loss-of-function animals are lethargic. Paper_evidence: WBPaper00039982
            Curator_confirmed: WBPerson712
      WBPhenotype:0001434 Paper_evidence: WBPaper00049074
        Curator_confirmed: WBPerson6118
        Remark: enhanced acuity to low dilutions of AWC-sensed odors (benzaldehyde and isoamyl alcohol); reduced response to low dilution of AWA-sensed odors (diacetyl and pyrazine) Paper_evidence: WBPaper00049074
            Curator_confirmed: WBPerson6118
        Phenotype_assay: Control_strain: WBStrain00000001 Paper_evidence: WBPaper00049074
              Curator_confirmed: WBPerson6118
      WBPhenotype:0001506 Paper_evidence: WBPaper00049074
        Curator_confirmed: WBPerson6118
        Remark: enhanced reversing rate off food and reduced reversing rate on food compared to N2 Paper_evidence: WBPaper00049074
            Curator_confirmed: WBPerson6118
        Phenotype_assay: Control_strain: WBStrain00000001 Paper_evidence: WBPaper00049074
              Curator_confirmed: WBPerson6118
      WBPhenotype:0004026 Paper_evidence: WBPaper00049074
        Curator_confirmed: WBPerson6118
        Remark: suppressed nose touch response Paper_evidence: WBPaper00049074
            Curator_confirmed: WBPerson6118
        Phenotype_assay: Control_strain: WBStrain00000001 Paper_evidence: WBPaper00049074
              Curator_confirmed: WBPerson6118
    Phenotype_not_observed: WBPhenotype:0000397 Paper_evidence: WBPaper00040149
        Curator_confirmed: WBPerson712
        Remark: 85 +/-8% of mec-4(u253) responded to prodding with a platinum wire. Paper_evidence: WBPaper00040149
            Curator_confirmed: WBPerson712
      WBPhenotype:0004028 Paper_evidence: WBPaper00049074
        Curator_confirmed: WBPerson6118
        Phenotype_assay: Control_strain: WBStrain00000001 Paper_evidence: WBPaper00049074
              Curator_confirmed: WBPerson6118
  Reference: WBPaper00039982
    WBPaper00040149
    WBPaper00029017
    WBPaper00029013
    WBPaper00049074
    WBPaper00053740
    WBPaper00065340
    WBPaper00065804
  Remark: u253 comprises a deletion within exon 3. The left and right flanks refer to the left and right of exon 3, respectively (exact breakpoints are not detailed in the paper). Paper_evidence: WBPaper00003969
    u253 has a deletion in exon 3. Paper_evidence: WBPaper00024641
  Method: Deletion_allele