WormBase Tree Display for Variation: WBVar00317512

WBVar00317512 Name: Public_name: tm3165
    Other_name: H17B01.1b.1:c.217-76_395del
      H17B01.1a.1:c.163-76_341del
    HGVSg: CHROMOSOME_II:g.1505630_1505980del
  Sequence_details: SMap: S_parent: Sequence: H17B01
    Flanking_sequences: aaaaactttcaactagtgaaatatgcaaaa caataatcttttggctctggccgcggcggc
    Mapping_target: H17B01
    Source_location: 7 CHROMOSOME_II 1505629 1505981 Inferred_automatically: National_Bioresource_Project
    Type_of_mutation: Deletion
    PCR_product: tm3165_external
      tm3165_internal
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00054893
      WBStrain00054896
      WBStrain00054898
      WBStrain00054922
      WBStrain00054928
    Laboratory: FX
    Author: Mitani S
    DB_info: Database: National_Bioresource_Project seq 3165
    NBP_allele
    Status: Live
  Affects: Gene: WBGene00019207
    Transcript: H17B01.1b.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: H17B01.1b.1:c.217-76_395del
        cDNA_position: ?-395
        CDS_position: ?-395
        Protein_position: ?-132
        Intron_number: 2-3/8
        Exon_number: 3-4/9
      H17B01.1a.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: H17B01.1a.1:c.163-76_341del
        cDNA_position: ?-343
        CDS_position: ?-341
        Protein_position: ?-114
        Intron_number: 3-4/10
        Exon_number: 4-5/11
  Isolation: Mutagen: TMP/UV
  Genetics: Map: II
  Description: Phenotype: WBPhenotype:0001184 Paper_evidence: WBPaper00042558
        Curator_confirmed: WBPerson557
        Remark: fgt-1(tm3165) mutant animal showed 9 percent higher fat storage compared with wild-type animals. Fat content measured by Sudan black B staining. Paper_evidence: WBPaper00042558
            Curator_confirmed: WBPerson557
        Phenotype_assay: Temperature: 20 Paper_evidence: WBPaper00042558
              Curator_confirmed: WBPerson557
    Phenotype_not_observed: WBPhenotype:0000062 Person_evidence: WBPerson7743
        Curator_confirmed: WBPerson712
        Remark: Classified as homozygous viable by the National Bioresource Project of Japan. Person_evidence: WBPerson7743
            Curator_confirmed: WBPerson712
      WBPhenotype:0000306 Paper_evidence: WBPaper00049337
        Curator_confirmed: WBPerson712
        Remark: Expression of the daf-7 TGF-beta ligand in ASI (Ren et al. 1996; Schackwitz et al. 1996) was unaffected upon loss of maco-1 function [FigureS1; 100% of wild-type and maco-1(tm3165) animals expressed daf-7p::gfp in ASI; n = 20 each]. Paper_evidence: WBPaper00049337
            Curator_confirmed: WBPerson712
        Variation_effect: Loss_of_function_undetermined_extent: Paper_evidence: WBPaper00049337
            Curator_confirmed: WBPerson712
        Affected_by: Molecule: WBMol:00005103 Paper_evidence: WBPaper00049337
              Curator_confirmed: WBPerson712
            WBMol:00005104 Paper_evidence: WBPaper00049337
              Curator_confirmed: WBPerson712
            WBMol:00005110 Paper_evidence: WBPaper00049337
              Curator_confirmed: WBPerson712
            WBMol:00005127 Paper_evidence: WBPaper00049337
              Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: daf-7p::gfp Paper_evidence: WBPaper00049337
              Curator_confirmed: WBPerson712
  Reference: WBPaper00042558
    WBPaper00049337
  Remark: 35925/35926-36276/36277 (351 bp deletion)
    This knockout was generated by the National Bioresource Project, Tokyo, Japan, which is part of the International C. elegans Gene Knockout Consortium, which should be acknowledged in any publications resulting from its use. Paper_evidence: WBPaper00041807
  Method: NBP_knockout_allele