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 (59)
  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