WormBase Tree Display for Variation: WBVar00145853

WBVar00145853 Evidence: Paper_evidence: WBPaper00035654
  Name: Public_name: gk448
    HGVSg: CHROMOSOME_III:g.13771453_13771807del
  Sequence_details: SMap: S_parent: Sequence: K08E3
    Flanking_sequences: caaggcctcgactagttttttgaatttaat ttacttatataaataactggaattgttatt
    Mapping_target: K08E3
    Type_of_mutation: Deletion
    PCR_product: gk448_external
      gk448_internal
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00036256
    Component_of_genotype: WBGenotype00000134
      WBGenotype00000135
    Laboratory: VC
    Person: WBPerson427
    KO_consortium_allele
    Status: Live
  Affects: Gene: WBGene00003967
    Transcript: K08E3.7b.2 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,5_prime_UTR_variant,intron_variant
        VEP_impact: HIGH
        Intron_number: 2-3/6
        Exon_number: 1-3/7
      K08E3.7a.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,5_prime_UTR_variant,intron_variant
        VEP_impact: HIGH
        Intron_number: 2-3/8
        Exon_number: 1-3/9
      K08E3.7c.1 VEP_consequence: splice_donor_variant,coding_sequence_variant,5_prime_UTR_variant,intron_variant
        VEP_impact: HIGH
        Intron_number: 1/5
        Exon_number: 1/6
      K08E3.7b.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,5_prime_UTR_variant,intron_variant
        VEP_impact: HIGH
        Intron_number: 2-3/7
        Exon_number: 1-3/8
    Interactor: WBInteraction000524464
      WBInteraction000524466
      WBInteraction000524468
      WBInteraction000532904
  Isolation: Mutagen: TMP/UV
  Description: Phenotype: WBPhenotype:0000136 Paper_evidence: WBPaper00044740
        Curator_confirmed: WBPerson712
        Remark: Gene expression data reveal inherently upregulated dat-1 mRNA levels. Paper_evidence: WBPaper00044740
            Curator_confirmed: WBPerson712
      WBPhenotype:0001401 Paper_evidence: WBPaper00047030
        Curator_confirmed: WBPerson25433
        Remark: Highly fused mitochondrial networks measured in L4 stage nematodes Paper_evidence: WBPaper00047030
            Curator_confirmed: WBPerson25433
        EQ_annotations: Life_stage: WBls:0000038 PATO:0000460 Paper_evidence: WBPaper00047030
                Curator_confirmed: WBPerson25433
          GO_term: GO:0005739 PATO:0000642 Paper_evidence: WBPaper00047030
                Curator_confirmed: WBPerson25433
      WBPhenotype:0001779 Paper_evidence: WBPaper00035654
        Curator_confirmed: WBPerson2021
        Remark: 3 miRNAs were observed differentially expressed (p<0.05) in pdr-1 mutants when compared to N2 wt Paper_evidence: WBPaper00035654
            Curator_confirmed: WBPerson2021
      WBPhenotype:0002223 Paper_evidence: WBPaper00044740
        Curator_confirmed: WBPerson712
        Remark: pdr-1 mutants exhibited hypersensitivity to Mn-induced lethality (LD50 = 5.59 mM) compared to WT worms (LD50 = 10.43 mM) Paper_evidence: WBPaper00044740
            Curator_confirmed: WBPerson712
      WBPhenotype:0002230 Paper_evidence: WBPaper00044740
        Curator_confirmed: WBPerson712
        Remark: Deletion mutants exhibited an enhanced Mn accumulation compared to WT worms. Paper_evidence: WBPaper00044740
            Curator_confirmed: WBPerson712
      WBPhenotype:0002231 Paper_evidence: WBPaper00044740
        Curator_confirmed: WBPerson712
        Remark: In response to sub-lethal, acute Mn treatment (respective LD25), WT worms showed a time-dependent increase in Mn-induced RONS (reactive oxygen and nitrogen species) that was exacerbated in this mutant. Paper_evidence: WBPaper00044740
            Curator_confirmed: WBPerson712
      WBPhenotype:0002430 Paper_evidence: WBPaper00064562
        Curator_confirmed: WBPerson440
    Phenotype_not_observed: WBPhenotype:0000140 Paper_evidence: WBPaper00041209
        Curator_confirmed: WBPerson712
        Remark: did not significantly exacerbate L3 arrest at any time point Paper_evidence: WBPaper00041209
            Curator_confirmed: WBPerson712
        Affected_by: Molecule: WBMol:00003513 Paper_evidence: WBPaper00041209
              Curator_confirmed: WBPerson712
        EQ_annotations: Life_stage: WBls:0000035 PATO:0000460 Paper_evidence: WBPaper00041209
                Curator_confirmed: WBPerson712
        Phenotype_assay: Treatment: serial ultraviolet C radiation(UVC) exposure (10 J/m2) Paper_evidence: WBPaper00041209
              Curator_confirmed: WBPerson712
  Disease_info: Modifies_disease: DOID:700
    Modifies_disease_in_annotation: WBDOannot00001294
  Reference: WBPaper00041209
    WBPaper00035654
    WBPaper00044740
    WBPaper00047030
    WBPaper00064979
    WBPaper00064562
  Remark: Sequenced by the C. elegans Gene Knockout Consortium Paper_evidence: WBPaper00041807
  Method: KO_consortium_allele