WormBase Tree Display for Variation: WBVar00142950

WBVar00142950 Evidence: Paper_evidence: WBPaper00005417
  Name: Public_name: e78
    Other_name: F41C6.1.2:c.1229G>A
      CE04538:p.Cys410Tyr
      F41C6.1.1:c.1229G>A
    HGVSg: CHROMOSOME_X:g.6894828G>A
  Sequence_details: SMap: S_parent: Sequence: F41C6
    Flanking_sequences: tccatactaaattcaaaaccacttaagctt tggatgtcatccagtcggatcacttggaaa
    Mapping_target: F41C6
    Type_of_mutation: Substitution: g a Paper_evidence: WBPaper00005417
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain (12)
    Laboratory: CB
    Status: Live
  Affects: Gene: WBGene00006746
    Transcript: F41C6.1.1 (12)
      F41C6.1.2 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        SIFT: 0 deleterious
        PolyPhen: 1 probably_damaging
        HGVSc: F41C6.1.2:c.1229G>A
        HGVSp: CE04538:p.Cys410Tyr
        cDNA_position: 1295
        CDS_position: 1229
        Protein_position: 410
        Exon_number: 9/16
        Codon_change: tGt/tAt
        Amino_acid_change: C/Y
    Interactor: WBInteraction000500108
      WBInteraction000500177
      WBInteraction000500190
      WBInteraction000500384
      WBInteraction000500890
      WBInteraction000500928
      WBInteraction000502341
      WBInteraction000502343
      WBInteraction000556211
  Genetics: Interpolated_map_position: X -2.07168
    Mapping_data: In_2_point: 150
        165
        185
        188
        236
        237
        3385
      In_multi_point (37)
      In_pos_neg_data (16)
  Description: Phenotype: WBPhenotype:0000002 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: slight kinker Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        Ease_of_scoring: ES3_Easy_to_score: Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000181 Paper_evidence: WBPaper00001105
        Curator_confirmed: WBPerson2021
        Remark: HSN axons are posteriorly misdirected and never reach the nerve ring Paper_evidence: WBPaper00001105
            Curator_confirmed: WBPerson2021
        Penetrance: Low: Paper_evidence: WBPaper00001105
              Curator_confirmed: WBPerson2021
          Range: 2 2 Paper_evidence: WBPaper00001105
                Curator_confirmed: WBPerson2021
        EQ_annotations: Anatomy_term: WBbt:0006830 PATO:0000460 Paper_evidence: WBPaper00001105
                Curator_confirmed: WBPerson2021
          Life_stage: WBls:0000057 PATO:0000460 Paper_evidence: WBPaper00001105
                Curator_confirmed: WBPerson2021
      WBPhenotype:0000188 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: abnormal gonad arms Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0005175 PATO:0000460 Person_evidence: WBPerson261
                Curator_confirmed: WBPerson712
      WBPhenotype:0000319 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
      WBPhenotype:0000384 Paper_evidence: WBPaper00035146
          WBPaper00040147
          WBPaper00031828
        Curator_confirmed: WBPerson712
        Remark: AVM axons migrate anteriorly and HSN axons migrate in a number of aberrant patterns, this defect is more pronounced for HSN axons. Paper_evidence: WBPaper00035146
            Curator_confirmed: WBPerson712
          Mutants displayed a nearly complete failure of dorsally directed VD axons to reach the dorsal cord. Paper_evidence: WBPaper00040147
            Curator_confirmed: WBPerson712
          Animals had strong axon guidance defects. Paper_evidence: WBPaper00040147
            Curator_confirmed: WBPerson712
          Animals exhibit dorsal guidance defects. Paper_evidence: WBPaper00031828
            Curator_confirmed: WBPerson712
          Loss of unc-6 function results in 40% failure of ALM ventral outgrowth. Paper_evidence: WBPaper00031828
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0003832 PATO:0000460 Paper_evidence: WBPaper00035146
                  WBPaper00031828
                Curator_confirmed: WBPerson712
            WBbt:0006830 PATO:0000460 Paper_evidence: WBPaper00035146
                  WBPaper00040147
                Curator_confirmed: WBPerson712
            WBbt:0005303 PATO:0000460 Paper_evidence: WBPaper00040147
                Curator_confirmed: WBPerson712
            WBbt:0005274 PATO:0000460 Paper_evidence: WBPaper00031828
                Curator_confirmed: WBPerson712
            WBbt:0005278 PATO:0000460 Paper_evidence: WBPaper00031828
                Curator_confirmed: WBPerson712
      WBPhenotype:0000470 Paper_evidence: WBPaper00038152
        Curator_confirmed: WBPerson712
        Remark: Weak defects in HSN ventral migration. Paper_evidence: WBPaper00038152
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0006830 PATO:0000460 Paper_evidence: WBPaper00038152
                Curator_confirmed: WBPerson712
      WBPhenotype:0000516 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: ventral cord disorganized Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0005829 PATO:0000460 Person_evidence: WBPerson261
                Curator_confirmed: WBPerson712
      WBPhenotype:0000542 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: slightly fat Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000572 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: dorsal extensions of DD and VD neurons grow in aberrant directions fail to reach dorsal cord Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0005270 PATO:0000460 Person_evidence: WBPerson261
                Curator_confirmed: WBPerson712
            WBbt:0005303 PATO:0000460 Person_evidence: WBPerson261
                Curator_confirmed: WBPerson712
      WBPhenotype:0000643 Paper_evidence: WBPaper00000031
          WBPaper00001105
          WBPaper00038105
        Curator_confirmed: WBPerson48
          WBPerson2021
          WBPerson712
        Remark: Less Unc than ev400. Paper_evidence: WBPaper00038105
            Curator_confirmed: WBPerson712
      WBPhenotype:0001005 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: poor backing Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0001224 Paper_evidence: WBPaper00001105
          WBPaper00038105
        Curator_confirmed: WBPerson2021
          WBPerson712
        Remark: HSN axons fail to extend ventrally from their cell bodies to the ventral cord and instead extend laterally to reach the nerve ring, their normal destination Paper_evidence: WBPaper00001105
            Curator_confirmed: WBPerson2021
          Animals exhibit more axon outgrowth defects than ev400. Paper_evidence: WBPaper00038105
            Curator_confirmed: WBPerson712
        Penetrance: Low: Paper_evidence: WBPaper00001105
              Curator_confirmed: WBPerson2021
          Range: 15 15 Paper_evidence: WBPaper00001105
                Curator_confirmed: WBPerson2021
        EQ_annotations: Anatomy_term: WBbt:0006830 PATO:0000460 Paper_evidence: WBPaper00001105
                Curator_confirmed: WBPerson2021
          Life_stage: WBls:0000057 PATO:0000460 Paper_evidence: WBPaper00001105
                Curator_confirmed: WBPerson2021
      WBPhenotype:0001984 Paper_evidence: WBPaper00038105
        Curator_confirmed: WBPerson712
        Remark: Animals exhibited a high level of long-range axon migration defects Paper_evidence: WBPaper00038105
            Curator_confirmed: WBPerson712
      WBPhenotype:0001985 Paper_evidence: WBPaper00038105
        Curator_confirmed: WBPerson712
        Remark: Animals exhibited a low level of short-range axon migration defects. Paper_evidence: WBPaper00038105
            Curator_confirmed: WBPerson712
    Phenotype_not_observed (4)
  Reference (21)
  Method: Substitution_allele