WormBase Tree Display for Variation: WBVar00145811

WBVar00145811 Name: Public_name: gk405
    Other_name: K10C3.6d.1:c.25+647_124-200del
      K10C3.6b.2:c.-3+651_97-200del
      K10C3.6a.2:c.-3+651_97-200del
      K10C3.6c.1:c.70+651_169-200del
    HGVSg: CHROMOSOME_I:g.9870438_9871712del
  Sequence_details: SMap: S_parent: Sequence: K10C3
    Flanking_sequences: atcttcgcgtttccttttgtttgctcaaga agtaatattgactccacctacagtaaccca
    Mapping_target: K10C3
    Type_of_mutation: Deletion
    PCR_product: gk405_external
      gk405_internal
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00036136
    Laboratory: VC
    Person: WBPerson427
    KO_consortium_allele
    Status: Live
  Affects: Gene: WBGene00003639
    Transcript: K10C3.6a.1 VEP_consequence: splice_donor_variant,coding_sequence_variant,5_prime_UTR_variant,intron_variant
        VEP_impact: HIGH
        Intron_number: 2/7
        Exon_number: 1-2/8
      K10C3.6d.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: K10C3.6d.1:c.25+647_124-200del
        Intron_number: 1-2/6
        Exon_number: 2/7
      K10C3.6a.2 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,5_prime_UTR_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: K10C3.6a.2:c.-3+651_97-200del
        Intron_number: 1-3/8
        Exon_number: 2-3/9
      K10C3.6c.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: K10C3.6c.1:c.70+651_169-200del
        Intron_number: 1-2/6
        Exon_number: 2/7
      K10C3.6b.1 VEP_consequence: splice_donor_variant,coding_sequence_variant,5_prime_UTR_variant,intron_variant
        VEP_impact: HIGH
        Intron_number: 2/7
        Exon_number: 1-2/8
      K10C3.6b.2 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,5_prime_UTR_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: K10C3.6b.2:c.-3+651_97-200del
        Intron_number: 1-3/8
        Exon_number: 2-3/9
    Interactor: WBInteraction000521958
      WBInteraction000524888
      WBInteraction000524889
      WBInteraction000524902
      WBInteraction000524903
      WBInteraction000535448
      WBInteraction000535452
  Isolation: Mutagen: TMP/UV
  Genetics: Mapping_data: In_multi_point: 5149
  Description: Phenotype: WBPhenotype:0000030 Paper_evidence: WBPaper00064731
        Curator_confirmed: WBPerson488
      WBPhenotype:0000073 Paper_evidence: WBPaper00064731
        Curator_confirmed: WBPerson488
      WBPhenotype:0000138 Paper_evidence: WBPaper00044247
        Curator_confirmed: WBPerson712
        Remark: the nhr-49(et8) and nhr-49(gk405) alleles often have opposite effects on the degree of fatty acid desaturation. For example, in PCs the et8 and gk405 alleles went 18 times in opposite directions compared to N2 control worms, and only 4 times in the same direction, the trend being a decrease in the proportion of saturated FAs in the et8 mutant Paper_evidence: WBPaper00044247
            Curator_confirmed: WBPerson712
        Variation_effect: Gain_of_function_undetermined_type: Paper_evidence: WBPaper00044247
            Curator_confirmed: WBPerson712
        EQ_annotations: Molecule_affected: WBMol:00003716 PATO:0000460 Paper_evidence: WBPaper00044247
                Curator_confirmed: WBPerson712
            WBMol:00001970 PATO:0000460 Paper_evidence: WBPaper00044247
                Curator_confirmed: WBPerson712
            WBMol:00005845 PATO:0000460 Paper_evidence: WBPaper00044247
                Curator_confirmed: WBPerson712
      WBPhenotype:0001184 Paper_evidence: WBPaper00035277
        Curator_confirmed: WBPerson2987
        Remark: Figure S4 Paper_evidence: WBPaper00035277
            Curator_confirmed: WBPerson2987
        Phenotype_assay: Treatment: Animals were stained with Nile red to assess intestinal fat content Paper_evidence: WBPaper00035277
              Curator_confirmed: WBPerson2987
          Temperature: 20 Paper_evidence: WBPaper00035277
              Curator_confirmed: WBPerson2987
      WBPhenotype:0001765 Paper_evidence: WBPaper00031936
        Curator_confirmed: WBPerson2021
        Remark: Acute CO2 avoidance is reduced Paper_evidence: WBPaper00031936
            Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000057 PATO:0000460 Paper_evidence: WBPaper00031936
                Curator_confirmed: WBPerson2021
        Phenotype_assay: Treatment: 10% CO2 Paper_evidence: WBPaper00031936
              Curator_confirmed: WBPerson2021
      WBPhenotype:0002484 Paper_evidence: WBPaper00064731
        Curator_confirmed: WBPerson488
    Phenotype_not_observed: WBPhenotype:0000147 Paper_evidence: WBPaper00040181
        Curator_confirmed: WBPerson712
        Remark: Animals exhibited rapid depletion of lipid stores upon starvation like that observed in control animals. Starvation-enhanced rRNA biosynthesis and lpd-7 mRNA expression also increased in the starved male worms. Paper_evidence: WBPaper00040181
            Curator_confirmed: WBPerson712
        EQ_annotations: Life_stage: WBls:0000056 PATO:0000460 Paper_evidence: WBPaper00040181
                Curator_confirmed: WBPerson712
  Disease_info: Models_disease: DOID:1574
    Models_disease_in_annotation: WBDOannot00000708
  Reference: WBPaper00040181
    WBPaper00031936
    WBPaper00035277
    WBPaper00044247
    WBPaper00064731
  Remark: Sequenced by the C. elegans Gene Knockout Consortium Paper_evidence: WBPaper00041807
  Method: KO_consortium_allele