WormBase Tree Display for Variation: WBVar00146279

WBVar00146279 Name: Public_name: gk1110
    Other_name: C44C8.6.2:c.51+304_432-133delinsT
      C44C8.6.1:c.51+304_432-133delinsT
    HGVSg: CHROMOSOME_IV:g.886917_887940delinsT
  Sequence_details: SMap: S_parent: Sequence: C44C8
    Flanking_sequences: gaatttttaaatcaaaactatttgttccaa gcgtatgactaagtctatgcctaagcctaa
    Mapping_target: C44C8
    Type_of_mutation: Insertion: T
      Deletion
    PCR_product: gk1110_external
      gk1110_internal
    SeqStatus: Sequenced
    Deletion_verification: Validated by CGH Laboratory_evidence: VC
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00037324
    Laboratory: VC
    Person: WBPerson427
    KO_consortium_allele
    Status: Live
  Affects: Gene: WBGene00007007
    Transcript: C44C8.6.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: C44C8.6.1:c.51+304_432-133delinsT
        Intron_number: 3-4/8
        Exon_number: 4/9
      C44C8.6.2 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,intron_variant
        VEP_impact: HIGH
        HGVSc: C44C8.6.2:c.51+304_432-133delinsT
        Intron_number: 3-4/8
        Exon_number: 4/9
  Isolation: Mutagen: UV/TMP
  Description: Phenotype: WBPhenotype:0001203 Paper_evidence: WBPaper00046636
        Curator_confirmed: WBPerson557
        Remark: Animals are all partially resistant to nicotine. Paper_evidence: WBPaper00046636
            Curator_confirmed: WBPerson557
        Phenotype_assay: Treatment: Animals exposed to a solution of 0.1 percent nicotine. Paper_evidence: WBPaper00046636
              Curator_confirmed: WBPerson557
    Phenotype_not_observed: WBPhenotype:0000256 Paper_evidence: WBPaper00048972
        Curator_confirmed: WBPerson2987
        Remark: "To identify the mechanism by which PMK-3 regulates cilium length, we tested several downstream effectors of the DLK-1/p38 MAPK pathway. First, we looked at the downstream substrate of PMK-3 in axon regeneration and synapse formation; the MAP kinase-activated protein kinase MAK-2 [28, 31]. mak-2(gk1110) did not suppress the dye-filling defect (Fig 5A)." Paper_evidence: WBPaper00048972
            Curator_confirmed: WBPerson2987
        Phenotype_assay: Genotype: gpa-3QL(syIs25) Paper_evidence: WBPaper00048972
              Curator_confirmed: WBPerson2987
  Reference: WBPaper00048972
    WBPaper00046636
  Remark: Sequenced by the C. elegans Gene Knockout Consortium Paper_evidence: WBPaper00041807
  Method: KO_consortium_allele