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: WBStrain00004093
      WBStrain00004789
      WBStrain00005513
      WBStrain00006650
      WBStrain00006651
      WBStrain00022032
      WBStrain00022037
      WBStrain00022042
      WBStrain00024169
      WBStrain00034127
      WBStrain00034128
      WBStrain00034201
    Laboratory: CB
    Status: Live
  Affects: Gene: WBGene00006746
    Transcript: F41C6.1.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        SIFT: 0 deleterious
        PolyPhen: 1 probably_damaging
        HGVSc: F41C6.1.1:c.1229G>A
        HGVSp: CE04538:p.Cys410Tyr
        cDNA_position: 1295
        CDS_position: 1229
        Protein_position: 410
        Exon_number: 9/15
        Codon_change: tGt/tAt
        Amino_acid_change: C/Y
      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: 166
        168
        170
        171
        172
        173
        174
        176
        177
        181
        182
        230
        277
        278
        280
        282
        415
        416
        417
        587
        789
        1212
        1213
        1214
        1322
        1858
        2087
        2088
        2290
        2441
        2442
        2453
        2461
        3084
        3088
        3090
        3243
      In_pos_neg_data: 936
        1858
        1874
        1889
        1900
        1913
        1929
        1945
        1961
        1977
        1993
        2000
        2009
        2020
        2041
        5501
  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: WBPhenotype:0000032 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
        Remark: healthy Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
      WBPhenotype:0000436 Paper_evidence: WBPaper00040857
        Curator_confirmed: WBPerson712
        Remark: Mutation did not cause SNB-1::VENUS localization defects. Paper_evidence: WBPaper00040857
            Curator_confirmed: WBPerson712
      WBPhenotype:0000679 Paper_evidence: WBPaper00035146
        Curator_confirmed: WBPerson712
        Remark: UNC-40::GFP is more ventrally localized as in wild type animals. Paper_evidence: WBPaper00035146
            Curator_confirmed: WBPerson712
      WBPhenotype:0001426 Paper_evidence: WBPaper00004883
        Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: arIs37 Paper_evidence: WBPaper00004883
              Curator_confirmed: WBPerson712
  Reference: WBPaper00038105
    WBPaper00038152
    WBPaper00040147
    WBPaper00040857
    WBPaper00000031
    WBPaper00004883
    WBPaper00016190
    WBPaper00016138
    WBPaper00001105
    WBPaper00014166
    WBPaper00010985
    WBPaper00015344
    WBPaper00022216
    WBPaper00011077
    WBPaper00016473
    WBPaper00022461
    WBPaper00019344
    WBPaper00018953
    WBPaper00031828
    WBPaper00035146
    WBPaper00005417
  Method: Substitution_allele