WormBase Tree Display for Variation: WBVar00143024

WBVar00143024 Evidence: Paper_evidence: WBPaper00000779
  Name: Public_name: e190
    Other_name: F11C3.3.1:c.4617_5017del
      CE09349:p.Ile1539MetfsTer6
    HGVSg: CHROMOSOME_I:g.14857211_14857611del
  Sequence_details: SMap: S_parent: Sequence: F32A7
    Flanking_sequences: acgctctgtccacgaaatgcaaaagatcat gagccgacacccgtgaacaattcttcaacg
    Mapping_target: F32A7
    Type_of_mutation: Deletion
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain (13)
    Laboratory: CB
    Status: Live
  Affects: Gene: WBGene00006789
    Transcript: F11C3.3.1 VEP_consequence: frameshift_variant
        VEP_impact: HIGH
        HGVSc: F11C3.3.1:c.4617_5017del
        HGVSp: CE09349:p.Ile1539MetfsTer6
        cDNA_position: 4649-5049
        CDS_position: 4617-5017
        Protein_position: 1539-1673
        Exon_number: 7/11
        Codon_change: atCCGCCGTCTTGAGATTGAGAAGGAAGAACTCCAACACGCTTTGGACGAGGCTGAGGCTGCCCTTGAAGCTGAAGAGAGCAAGGTTCTCCGCGCCCAGGTTGAAGTTTCCCAGATCCGTTCCGAAATCGAGAAACGCATCCAGGAGAAGGAGGAAGAGTTCGAGAACACGAGAAAGAACCACGCCCGCGCTCTTGAATCAATGCAAGCTTCCCTCGAGACCGAAGCTAAAGGAAAGGCCGAACTTCTCCGCATCAAGAAGAAGCTCGAGGGAGATATCAACGAGCTCGAGATCGCTTTGGACCACGCCAACAAGGCTAACGCCGATGCCCAGAAGAACTTGAAGAGATACCAAGAGCAAGTCCGCGAGTTGCAATTGCAAGTCGAGGAGGAGCAACGCAATGga/atga
        Amino_acid_change: IRRLEIEKEELQHALDEAEAALEAEESKVLRAQVEVSQIRSEIEKRIQEKEEEFENTRKNHARALESMQASLETEAKGKAELLRIKKKLEGDINELEIALDHANKANADAQKNLKRYQEQVRELQLQVEEEQRNG/MX
    Interactor: WBInteraction000518611
      WBInteraction000538533
      WBInteraction000555983
  Isolation: Mutagen: EMS Paper_evidence: WBPaper00000779
  Genetics: Interpolated_map_position: I 27.9601
    Mapping_data: In_2_point (14)
      In_multi_point (20)
      In_pos_neg_data: 333
    Marked_rearrangement: hT2[unc-54(e190)]
  Description: Phenotype: WBPhenotype:0000007 Paper_evidence: WBPaper00000635
        Curator_confirmed: WBPerson48
        Remark: No eggs laid, only larvae. Paper_evidence: WBPaper00000635
            Curator_confirmed: WBPerson48
      WBPhenotype:0000349 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: limp paralysed phenotype at all stages; larvae can move slightly more than adults; Egl; muscle ultrastructure very disorganized few thick filaments. ES3 ME0 Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
          limp paralysed phenotype at all stages Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        Ease_of_scoring: ES3_Easy_to_score: Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000640 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: Egl Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000644 Paper_evidence: WBPaper00000031
        Person_evidence: WBPerson261
        Curator_confirmed: WBPerson48
          WBPerson712
        Remark: limp paralysed phenotype at all stages; larvae can move slightly more than adults Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000782 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: muscle ultrastructure very disorganized few thick filaments Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000861 Paper_evidence: WBPaper00000031
        Curator_confirmed: WBPerson48
        Remark: defect in body muscle cells Paper_evidence: WBPaper00000031
            Curator_confirmed: WBPerson48
      WBPhenotype:0000926 Paper_evidence: WBPaper00000031
        Curator_confirmed: WBPerson48
        Remark: defect in body muscle cells Paper_evidence: WBPaper00000031
            Curator_confirmed: WBPerson48
      WBPhenotype:0001068 Paper_evidence: WBPaper00000635
        Curator_confirmed: WBPerson48
        Phenotype_assay: Treatment: 5 mg/ml serotonin Paper_evidence: WBPaper00000635
              Curator_confirmed: WBPerson48
      WBPhenotype:0001292 Paper_evidence: WBPaper00000031
        Curator_confirmed: WBPerson48
        Remark: defect in body muscle cells Paper_evidence: WBPaper00000031
            Curator_confirmed: WBPerson48
      WBPhenotype:0001339 Paper_evidence: WBPaper00000635
        Curator_confirmed: WBPerson48
        Remark: data not shown Paper_evidence: WBPaper00000635
            Curator_confirmed: WBPerson48
        Affected_by: Molecule: WBMol:00004019 Paper_evidence: WBPaper00000635
              Curator_confirmed: WBPerson48
        Phenotype_assay: Treatment: 0.1 mg/ml levamisole Paper_evidence: WBPaper00000635
              Curator_confirmed: WBPerson48
      WBPhenotype:0001340 Paper_evidence: WBPaper00000635
        Curator_confirmed: WBPerson48
        Phenotype_assay: Treatment: 0.75 mg/ml imipramine Paper_evidence: WBPaper00000635
              Curator_confirmed: WBPerson48
      WBPhenotype:0001341 Paper_evidence: WBPaper00000635
        Curator_confirmed: WBPerson48
        Remark: data not shown Paper_evidence: WBPaper00000635
            Curator_confirmed: WBPerson48
        Phenotype_assay: Treatment: 10 mg/ml phentolamine Paper_evidence: WBPaper00000635
              Curator_confirmed: WBPerson48
      WBPhenotype:0001930 Paper_evidence: WBPaper00032907
        Curator_confirmed: WBPerson712
        Remark: Animals were isolated based on altered or fewer muscle arms, observed by an altered pattern of trIs25 reporter expression, which expresses membrane-anchored YFP in select muscles of only the distal row of body wall muscles. Paper_evidence: WBPaper00032907
            Curator_confirmed: WBPerson712
    Phenotype_not_observed: WBPhenotype:0000195 Paper_evidence: WBPaper00005809
        Curator_confirmed: WBPerson2987
        Remark: "Mutations in unc-22 or unc-54 that disrupt the function and structure of body wall muscles (Moerman et al., 1986) had no significant effect on the frequency of DTC migration defects (Table 1; P > 0.3)." Paper_evidence: WBPaper00005809
            Curator_confirmed: WBPerson2987
        EQ_annotations: Anatomy_term: WBbt:0006865 PATO:0000460 Paper_evidence: WBPaper00005809
                Curator_confirmed: WBPerson2987
          GO_term: GO:0016477 PATO:0000460 Paper_evidence: WBPaper00005809
                Curator_confirmed: WBPerson2987
        Phenotype_assay: Genotype: unc-5(e152) Paper_evidence: WBPaper00005809
              Curator_confirmed: WBPerson2987
      WBPhenotype:0001236 Paper_evidence: WBPaper00056554
        Curator_confirmed: WBPerson5649
        Remark: expression of mgIs72[rpt-3::gfp] transgene was not increased Paper_evidence: WBPaper00056554
            Curator_confirmed: WBPerson5649
        Phenotype_assay: Control_strain: WBStrain00007961 Paper_evidence: WBPaper00056554
              Curator_confirmed: WBPerson5649
          Genotype: mgIs72 [rpt-3::gfp] Paper_evidence: WBPaper00056554
              Curator_confirmed: WBPerson5649
      WBPhenotype:0001426 Paper_evidence: WBPaper00004883
        Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: arIs37 Paper_evidence: WBPaper00004883
              Curator_confirmed: WBPerson712
  Reference (33)
  Method: Deletion_allele