WormBase Tree Display for Variation: WBVar00249891

WBVar00249891 Name: Public_name: tm866
    Other_name: C42D8.4a.4:c.313-488_*5+395del
    HGVSg: CHROMOSOME_X:g.5079379_5080680del
  Sequence_details: SMap: S_parent: Sequence: C42D8
    Flanking_sequences: aatttttttcaaaaccaagccaataaacac tactcttaaccataactacgtgttacattc
    Mapping_target: C42D8
    Source_location: 7 CHROMOSOME_X 5079378 5080681 Inferred_automatically: National_Bioresource_Project
    Type_of_mutation: Deletion
    PCR_product: tm866_external
      tm866_internal
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00029509
    Laboratory: FX
      OH
    Author: Mitani S
    DB_info: Database: National_Bioresource_Project seq 866
    NBP_allele
    Status: Live
  Affects: Gene: WBGene00016600
    Transcript: C42D8.4a.3 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,3_prime_UTR_variant,intron_variant
        VEP_impact: HIGH
        Intron_number: 5-7/8
        Exon_number: 6-9/9
      C42D8.4b.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,3_prime_UTR_variant,intron_variant
        VEP_impact: HIGH
        Intron_number: 4-6/6
        Exon_number: 5-7/7
      C42D8.4a.4 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,3_prime_UTR_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: C42D8.4a.4:c.313-488_*5+395del
        Intron_number: 2-6/6
        Exon_number: 3-6/7
      C42D8.4a.2 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,3_prime_UTR_variant,intron_variant
        VEP_impact: HIGH
        Intron_number: 4-6/7
        Exon_number: 5-8/8
      C42D8.4a.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,3_prime_UTR_variant,intron_variant
        VEP_impact: HIGH
        Intron_number: 5-7/8
        Exon_number: 6-9/9
    Interactor: WBInteraction000505128
      WBInteraction000505129
      WBInteraction000505130
      WBInteraction000505131
      WBInteraction000505132
      WBInteraction000505133
      WBInteraction000505134
  Isolation: Mutagen: TMP/UV
  Genetics: Map: X
  Description: Phenotype: WBPhenotype:0000962 Paper_evidence: WBPaper00040214
        Curator_confirmed: WBPerson712
        Remark: The intensity of expression of all of the BAG genes was reduced. | ets-5 mutants show reduced levels of ets-5::mCherry expression at multiple developmental stages. Paper_evidence: WBPaper00040214
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0006825 PATO:0000460 Paper_evidence: WBPaper00040214
                Curator_confirmed: WBPerson712
      WBPhenotype:0001184 Paper_evidence: WBPaper00050780
        Curator_confirmed: WBPerson14503
      WBPhenotype:0001510 Paper_evidence: WBPaper00040214
        Curator_confirmed: WBPerson712
        Remark: The genes that are known to function specifically or nearly specifically in BAG neurons, such as flp-17, gcy-9, gcy-31, and gcy-33, showed greatly reduced expression across developmental stages in ets-5 mutants. Paper_evidence: WBPaper00040214
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0006825 PATO:0000460 Paper_evidence: WBPaper00040214
                Curator_confirmed: WBPerson712
      WBPhenotype:0001639 Paper_evidence: WBPaper00050780
        Curator_confirmed: WBPerson14503
      WBPhenotype:0001765 Paper_evidence: WBPaper00040214
        Curator_confirmed: WBPerson712
        Remark: ets-5 mutants were defective in their ability to respond to all tested concentrations of CO2, and this CO2 response defect was present at all developmental stages. Paper_evidence: WBPaper00040214
            Curator_confirmed: WBPerson712
    Phenotype_not_observed: WBPhenotype:0000039 Paper_evidence: WBPaper00040214
        Curator_confirmed: WBPerson712
        Remark: mutants have normal life spans Paper_evidence: WBPaper00040214
            Curator_confirmed: WBPerson712
      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
            Laboratory_evidence: FX
      WBPhenotype:0000306 Person_evidence: WBPerson7743
        Curator_confirmed: WBPerson712
        Remark: Comments to the National Bioresource Project of Japan: Dr. O. Hobert: no effect on dat-1::gfp expression. Person_evidence: WBPerson7743
            Curator_confirmed: WBPerson712
            Laboratory_evidence: OH
      WBPhenotype:0000673 Paper_evidence: WBPaper00040214
        Curator_confirmed: WBPerson712
        Remark: mutants have normal brood sizes Paper_evidence: WBPaper00040214
            Curator_confirmed: WBPerson712
      WBPhenotype:0000717 Paper_evidence: WBPaper00032994
        Curator_confirmed: WBPerson2021
        Remark: Mutants showed wildtype dat-1::gfp expression Paper_evidence: WBPaper00032994
            Curator_confirmed: WBPerson2021
        Phenotype_assay: Genotype: vtIs1 (dat-1::gfp;rol6) Paper_evidence: WBPaper00032994
              Curator_confirmed: WBPerson2021
      WBPhenotype:0000905 Paper_evidence: WBPaper00040214
        Curator_confirmed: WBPerson712
        Remark: BAG neurons appear morphologically normal in ets-5 mutants, with an anterior process extending toward the tip of the nose and a posterior process that enters the nerve ring. Paper_evidence: WBPaper00040214
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0006825 PATO:0000460 Paper_evidence: WBPaper00040214
                Curator_confirmed: WBPerson712
  Reference: WBPaper00040214
    WBPaper00032994
    WBPaper00050780
    WBPaper00066004
  Remark: 429/430-1731/1732 (1302 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