WormBase Tree Display for Variation: WBVar00143953

WBVar00143953 Evidence: Person_evidence: WBPerson25803
  Name: Public_name: e1376
    Other_name (16)
    HGVSg: CHROMOSOME_X:g.822069del
  Sequence_details: SMap: S_parent: Sequence: F25E2
    Flanking_sequences: ACCATACGTCCCAACAAGGCAGTCATCAAC AGGGCACCAAGGTCAGGTACCGAATGATCC
    Mapping_target: F25E2
    Type_of_mutation: Deletion
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00004312
      WBStrain00004377
      WBStrain00026945
      WBStrain00030757
      WBStrain00035151
    Laboratory: CB
    Status: Live
  Affects: Gene: WBGene00000899
    Transcript: F25E2.5g.1 VEP_consequence: frameshift_variant
        VEP_impact: HIGH
        HGVSc: F25E2.5g.1:c.1277del
        HGVSp: CE50852:p.Pro426GlnfsTer51
        cDNA_position: 1277
        CDS_position: 1277
        Protein_position: 426
        Exon_number: 5/12
        Codon_change: cCa/ca
        Amino_acid_change: P/X
      F25E2.5d.1 VEP_consequence: frameshift_variant
        VEP_impact: HIGH
        HGVSc: F25E2.5d.1:c.1613del
        HGVSp: CE50706:p.Pro538GlnfsTer51
        cDNA_position: 1613
        CDS_position: 1613
        Protein_position: 538
        Exon_number: 8/15
        Codon_change: cCa/ca
        Amino_acid_change: P/X
      F25E2.5e.1 VEP_consequence: frameshift_variant
        VEP_impact: HIGH
        HGVSc: F25E2.5e.1:c.1511del
        HGVSp: CE50732:p.Pro504GlnfsTer51
        cDNA_position: 1560
        CDS_position: 1511
        Protein_position: 504
        Exon_number: 8/16
        Codon_change: cCa/ca
        Amino_acid_change: P/X
      F25E2.5b.1 VEP_consequence: frameshift_variant
        VEP_impact: HIGH
        HGVSc: F25E2.5b.1:c.1520del
        HGVSp: CE30963:p.Pro507GlnfsTer51
        cDNA_position: 1567
        CDS_position: 1520
        Protein_position: 507
        Exon_number: 8/16
        Codon_change: cCa/ca
        Amino_acid_change: P/X
      F25E2.5f.1 VEP_consequence: frameshift_variant
        VEP_impact: HIGH
        HGVSc: F25E2.5f.1:c.1502del
        HGVSp: CE28003:p.Pro501GlnfsTer51
        cDNA_position: 1550
        CDS_position: 1502
        Protein_position: 501
        Exon_number: 8/16
        Codon_change: cCa/ca
        Amino_acid_change: P/X
      F25E2.5a.1 VEP_consequence: frameshift_variant
        VEP_impact: HIGH
        HGVSc: F25E2.5a.1:c.1604del
        HGVSp: CE28002:p.Pro535GlnfsTer51
        cDNA_position: 1653
        CDS_position: 1604
        Protein_position: 535
        Exon_number: 9/17
        Codon_change: cCa/ca
        Amino_acid_change: P/X
      F25E2.5c.1 VEP_consequence: frameshift_variant
        VEP_impact: HIGH
        HGVSc: F25E2.5c.1:c.1316del
        HGVSp: CE26364:p.Pro439GlnfsTer51
        cDNA_position: 1321
        CDS_position: 1316
        Protein_position: 439
        Exon_number: 6/14
        Codon_change: cCa/ca
        Amino_acid_change: P/X
      F25E2.5h.1 VEP_consequence: frameshift_variant
        VEP_impact: HIGH
        HGVSc: F25E2.5h.1:c.1268del
        HGVSp: CE50691:p.Pro423GlnfsTer51
        cDNA_position: 1268
        CDS_position: 1268
        Protein_position: 423
        Exon_number: 5/12
        Codon_change: cCa/ca
        Amino_acid_change: P/X
    Interactor: WBInteraction000051076
      WBInteraction000051077
      WBInteraction000051078
      WBInteraction000051079
      WBInteraction000051080
      WBInteraction000051081
      WBInteraction000051082
      WBInteraction000051083
      WBInteraction000051084
      WBInteraction000051085
      WBInteraction000051086
      WBInteraction000051087
      WBInteraction000051088
      WBInteraction000051089
      WBInteraction000051090
      WBInteraction000051091
      WBInteraction000051092
      WBInteraction000051093
      WBInteraction000051094
      WBInteraction000051095
      WBInteraction000051096
      WBInteraction000051097
      WBInteraction000051098
      WBInteraction000051099
      WBInteraction000051100
      WBInteraction000051101
      WBInteraction000051102
      WBInteraction000051103
      WBInteraction000051104
      WBInteraction000051105
      WBInteraction000051106
      WBInteraction000051107
      WBInteraction000051108
      WBInteraction000051109
      WBInteraction000051110
      WBInteraction000051111
      WBInteraction000051112
      WBInteraction000051113
      WBInteraction000051114
      WBInteraction000051115
      WBInteraction000051116
      WBInteraction000051117
      WBInteraction000051118
      WBInteraction000051119
      WBInteraction000051120
      WBInteraction000051121
      WBInteraction000052359
      WBInteraction000052361
      WBInteraction000052362
      WBInteraction000052446
      WBInteraction000052447
      WBInteraction000052449
      WBInteraction000052451
      WBInteraction000052453
      WBInteraction000052455
      WBInteraction000518469
      WBInteraction000523951
      WBInteraction000536042
      WBInteraction000536053
  Genetics: Interpolated_map_position: X -19.4991
    Mapping_data: In_2_point: 299
        413
        414
  Description: Phenotype (17)
    Phenotype_not_observed: WBPhenotype:0000061 Paper_evidence: WBPaper00005086
        Curator_confirmed: WBPerson712
        Phenotype_assay: Temperature: 15C Paper_evidence: WBPaper00005086
              Curator_confirmed: WBPerson712
      WBPhenotype:0000256 Paper_evidence: WBPaper00000316
        Curator_confirmed: WBPerson712
      WBPhenotype:0000306 Paper_evidence: WBPaper00032073
        Curator_confirmed: WBPerson712
        Remark: The expression of cuIs5 (or cuIs2), a reporter of TGF-beta -signaling activity, remains at wild type levels. Paper_evidence: WBPaper00032073
            Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: cuIs5 or cuIs2 Paper_evidence: WBPaper00032073
              Curator_confirmed: WBPerson712
      WBPhenotype:0000520 Paper_evidence: WBPaper00000316
        Curator_confirmed: WBPerson712
      WBPhenotype:0000660 Paper_evidence: WBPaper00005511
        Curator_confirmed: WBPerson2021
        Remark: daf-3 mutants do not aggregate and border on food Paper_evidence: WBPaper00005511
            Curator_confirmed: WBPerson2021
      WBPhenotype:0000823 Paper_evidence: WBPaper00035610
        Curator_confirmed: WBPerson2021
        Remark: The mitotic region of daf-3(e1376) was indistinguishable from that of the wild type Paper_evidence: WBPaper00035610
            Curator_confirmed: WBPerson2021
        Phenotype_assay: Treatment: DAPI staining Paper_evidence: WBPaper00035610
              Curator_confirmed: WBPerson2021
      WBPhenotype:0001040 Paper_evidence: WBPaper00000316
        Curator_confirmed: WBPerson712
      WBPhenotype:0001690 Paper_evidence: WBPaper00002589
        Curator_confirmed: WBPerson712
        Remark: Animals were positive for mAb M37 at the L1 stage but not at any other stage, similar to N2 animals. Paper_evidence: WBPaper00002589
            Curator_confirmed: WBPerson712
        Penetrance: Low: Paper_evidence: WBPaper00002589
              Curator_confirmed: WBPerson712
        Phenotype_assay: Temperature: 27.5 Paper_evidence: WBPaper00002589
              Curator_confirmed: WBPerson712
      WBPhenotype:0001999 Paper_evidence: WBPaper00037970
        Curator_confirmed: WBPerson2987
        Remark: The integration of signals for attraction to diacetyl (100x dilute) and avoidance from copper (100 millimolar) was normal (like wild type) in daf-3(e1376) mutants, resulting in the same number of animals crossing the copper barrier to get to the diacetyl spot compared to wild type controls (Figure 5) Paper_evidence: WBPaper00037970
            Curator_confirmed: WBPerson2987
        Affected_by: Molecule: WBMol:00002819 Paper_evidence: WBPaper00037970
              Curator_confirmed: WBPerson2987
            WBMol:00002862 Paper_evidence: WBPaper00037970
              Curator_confirmed: WBPerson2987
      WBPhenotype:0002535 Paper_evidence: WBPaper00000932
        Curator_confirmed: WBPerson712
        Remark: FITC uptake is normal. Paper_evidence: WBPaper00000932
            Curator_confirmed: WBPerson712
  Reference (17)
  Method: Deletion_allele