WormBase Tree Display for Variation: WBVar00143369

WBVar00143369 Name: Public_name: e648
    Other_name: CE24899:p.Trp101Ter
      F14F3.1a.1:c.303G>A
      F14F3.1a.2:c.303G>A
    HGVSg: CHROMOSOME_X:g.10511192G>A
  Sequence_details: SMap: S_parent: Sequence: F14F3
    Flanking_sequences: acaaacgtgaccaacctagcatttttgcatg gaaatcagagataaactgctagctgataat
    Mapping_target: F14F3
    Type_of_mutation: Substitution: g a Paper_evidence: WBPaper00002236
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00004190
      WBStrain00057528
      WBStrain00057540
    Laboratory: CB
      CX
    Status: Live
  Affects: Gene: WBGene00006870
    Transcript: F14F3.1a.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: F14F3.1a.1:c.303G>A
        HGVSp: CE24899:p.Trp101Ter
        cDNA_position: 605
        CDS_position: 303
        Protein_position: 101
        Exon_number: 6/14
        Codon_change: tgG/tgA
        Amino_acid_change: W/*
      F14F3.1a.2 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: F14F3.1a.2:c.303G>A
        HGVSp: CE24899:p.Trp101Ter
        cDNA_position: 395
        CDS_position: 303
        Protein_position: 101
        Exon_number: 5/13
        Codon_change: tgG/tgA
        Amino_acid_change: W/*
    Interactor: WBInteraction000003443
  Isolation: Mutagen: EMS Paper_evidence: WBPaper00002236
  Genetics: Interpolated_map_position: X 2.22423
    Mapping_data: In_2_point: 164
        3647
        3649
        3652
        3658
        3668
      In_multi_point (15)
      In_pos_neg_data: 293
        498
        874
        3646
        4979
        4981
  Description: Phenotype: WBPhenotype:0000189 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: disorganized hypodermal anatomy Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000379 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: notched head, especially in L1; 100% penetrance, dystrophy of ventral head regions Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        Penetrance: Complete: Person_evidence: WBPerson261
              Curator_confirmed: WBPerson712
        Ease_of_scoring: ES3_Easy_to_score: Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000384 Paper_evidence: WBPaper00003760
        Curator_confirmed: WBPerson2021
        Remark: Mutants exhibited premature termination of the AWC axons Paper_evidence: WBPaper00003760
            Curator_confirmed: WBPerson2021
      WBPhenotype:0000604 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: disorganized anterior sensory anatomy Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000668 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: Emo Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0001084 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: non-chemotactic to NaCl Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        Affected_by: Molecule: WBMol:00003571 Person_evidence: WBPerson261
              Curator_confirmed: WBPerson712
      WBPhenotype:0001224 Paper_evidence: WBPaper00003665
        Curator_confirmed: WBPerson712
        Remark: animals exhibit severe defects in amphid axon outgrowth extension Paper_evidence: WBPaper00003665
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0005394 PATO:0000460 Paper_evidence: WBPaper00003665
                Curator_confirmed: WBPerson712
      WBPhenotype:0001297 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: adult male tail variably deformed Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0001414 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: mating not successful Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0001661 Paper_evidence: WBPaper00003760
        Curator_confirmed: WBPerson2021
        Remark: AWC specific str-2 expression Is altered: no str-2 expression in AWC Paper_evidence: WBPaper00003760
            Curator_confirmed: WBPerson2021
        EQ_annotations: Anatomy_term: WBbt:0005672 PATO:0000460 Paper_evidence: WBPaper00003760
                Curator_confirmed: WBPerson2021
    Phenotype_not_observed: WBPhenotype:0001660 Paper_evidence: WBPaper00006052
        Curator_confirmed: WBPerson2021
        Remark: No disruption of ASE asymmetry (as seen with lim-6 reporters) Paper_evidence: WBPaper00006052
            Curator_confirmed: WBPerson2021
        Variation_effect: Hypomorph_reduction_of_function: Paper_evidence: WBPaper00006052
            Curator_confirmed: WBPerson2021
        Phenotype_assay: Genotype: otIs114, otIs6 Paper_evidence: WBPaper00006052
              Curator_confirmed: WBPerson2021
  Reference (11)
  Remark: This allele has the same nucleotide mutation at the same position as ky664. It is mutated with the same mutagen as ky664, but obtained using a diferent screen. Paper_evidence: WBPaper00002236
  Method: Substitution_allele