WormBase Tree Display for Variation: WBVar02147375

WBVar02147375 Evidence: Paper_evidence: WBPaper00050480
  Name: Public_name: lq132
    Other_name: F42A10.2b.1:c.927+1G>A
      F42A10.2c.1:c.927+1G>A
      F42A10.2a.1:c.927+1G>A
    HGVSg: CHROMOSOME_III:g.6161405G>A
  Sequence_details: SMap: S_parent: Sequence: F42A10
    Flanking_sequences: ttaaggaggaggcagccagacacgttagag tatgtgtcttttatagtagggcaacttgaa
    Mapping_target: F42A10
    Type_of_mutation: Substitution: g a Paper_evidence: WBPaper00050480
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00054852
    Laboratory: LE
    Status: Live
  Affects: Gene: WBGene00003593
    Transcript: F42A10.2c.1 VEP_consequence: splice_donor_variant
        VEP_impact: HIGH
        HGVSc: F42A10.2c.1:c.927+1G>A
        Intron_number: 5/10
      F42A10.2b.1 VEP_consequence: splice_donor_variant
        VEP_impact: HIGH
        HGVSc: F42A10.2b.1:c.927+1G>A
        Intron_number: 6/13
      F42A10.2a.1 VEP_consequence: splice_donor_variant
        VEP_impact: HIGH
        HGVSc: F42A10.2a.1:c.927+1G>A
        Intron_number: 6/12
    Interactor: WBInteraction000537349
      WBInteraction000537350
      WBInteraction000537351
      WBInteraction000537352
  Genetics: Interpolated_map_position: III -1.41221
  Description: Phenotype: WBPhenotype:0000469 Paper_evidence: WBPaper00050480
        Curator_confirmed: WBPerson712
        Remark: This defect was not observed in the weaker nfm-1(lq132) mutant, although more subtle defects in migration might have escaped detection. Paper_evidence: WBPaper00050480
            Curator_confirmed: WBPerson712
        Rescued_by_transgene: WBTransgene00023701
        EQ_annotations: Anatomy_term: WBbt:0004054 PATO:0000460 Paper_evidence: WBPaper00050480
                Curator_confirmed: WBPerson712
            WBbt:0003927 PATO:0000460 Paper_evidence: WBPaper00050480
                Curator_confirmed: WBPerson712
      WBPhenotype:0000533 Paper_evidence: WBPaper00050480
        Curator_confirmed: WBPerson712
        Remark: Q-cell protrusions at 1-2.5 hr were significantly shorter than in wild type (Figure 3, C-F). Paper_evidence: WBPaper00050480
            Curator_confirmed: WBPerson712
        Rescued_by_transgene: WBTransgene00023701
        EQ_annotations: Anatomy_term: WBbt:0008598 PATO:0000460 Paper_evidence: WBPaper00050480
                Curator_confirmed: WBPerson712
      WBPhenotype:0001140 Paper_evidence: WBPaper00050480
        Curator_confirmed: WBPerson712
        Remark: One line of Pmyo-3::nfm-1(+)::gfp also rescued AQR and PQR defects of nfm-1(lq132) (Figure 6D). Paper_evidence: WBPaper00050480
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0003927 PATO:0000460 Paper_evidence: WBPaper00050480
                Curator_confirmed: WBPerson712
            WBbt:0004096 PATO:0000460 Paper_evidence: WBPaper00050480
                Curator_confirmed: WBPerson712
    Phenotype_not_observed: WBPhenotype:0000594 Paper_evidence: WBPaper00050480
        Curator_confirmed: WBPerson712
        Remark: No defects were observed in the direction of protrusion. Despite reduced protrusions in nfm-1 mutants, the Q cells completed their anterior and posterior migrations before division (n > 20 for both ok754 and lq132). Paper_evidence: WBPaper00050480
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0008598 PATO:0000460 Paper_evidence: WBPaper00050480
                Curator_confirmed: WBPerson712
  Reference: WBPaper00050480
  Method: Substitution_allele