WormBase Tree Display for Variation: WBVar00088161

WBVar00088161 Evidence: Paper_evidence: WBPaper00006431
  Name: Public_name: ju145
    Other_name: CE38293:p.Gln260Ter
      C41G7.5b.1:c.778C>T
      CE20561:p.Gln302Ter
      C41G7.5a.1:c.904C>T
    HGVSg: CHROMOSOME_I:g.9529104C>T
  Sequence_details: SMap: S_parent: Sequence: C41G7
    Flanking_sequences: cagttggatggagctttagtatctatggat aaaagtgagttttattaggtaaaaataact
    Mapping_target: C41G7
    Type_of_mutation: Substitution: c t
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00005374
    Laboratory: CZ
    Status: Live
  Affects: Gene: WBGene00000096
    Transcript: C41G7.5b.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: C41G7.5b.1:c.778C>T
        HGVSp: CE38293:p.Gln260Ter
        cDNA_position: 866
        CDS_position: 778
        Protein_position: 260
        Exon_number: 7/13
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
      C41G7.5a.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: C41G7.5a.1:c.904C>T
        HGVSp: CE20561:p.Gln302Ter
        cDNA_position: 932
        CDS_position: 904
        Protein_position: 302
        Exon_number: 8/15
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
    Interactor (16)
  Genetics: Interpolated_map_position: I 3.79478
  Description: Phenotype: WBPhenotype:0000061 Paper_evidence: WBPaper00060797
          WBPaper00064073
          WBPaper00049229
        Curator_confirmed: WBPerson3983
          WBPerson30364
      WBPhenotype:0000625 Paper_evidence: WBPaper00006431
        Curator_confirmed: WBPerson2021
        Remark: In ahr-1(ju145), fewer synapses were made between RMEL/R and head muscles Paper_evidence: WBPaper00006431
            Curator_confirmed: WBPerson2021
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00006431
            Curator_confirmed: WBPerson2021
        EQ_annotations: Anatomy_term: WBbt:0005025 PATO:0000460 Paper_evidence: WBPaper00006431
                Curator_confirmed: WBPerson2021
            WBbt:0005023 PATO:0000460 Paper_evidence: WBPaper00006431
                Curator_confirmed: WBPerson2021
        Phenotype_assay: Genotype: juIs1 [unc-25p::SNB-1-GFP] Paper_evidence: WBPaper00006431
              Curator_confirmed: WBPerson2021
      WBPhenotype:0001331 Paper_evidence: WBPaper00006431
        Curator_confirmed: WBPerson2021
        Remark: RMEL and RMER exhibited abnormal cell morphology such that, each extended an ectopic process of variable length growing along the lateral side of the body Paper_evidence: WBPaper00006431
            Curator_confirmed: WBPerson2021
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00006431
            Curator_confirmed: WBPerson2021
        EQ_annotations: Anatomy_term: WBbt:0005025 PATO:0000460 Paper_evidence: WBPaper00006431
                Curator_confirmed: WBPerson2021
            WBbt:0005023 PATO:0000460 Paper_evidence: WBPaper00006431
                Curator_confirmed: WBPerson2021
        Phenotype_assay: Treatment: GABA antibody staining Paper_evidence: WBPaper00006431
              Curator_confirmed: WBPerson2021
          Genotype: juIs76 [unc-25p::GFP], oxIs12 [unc-47pfl::GFP] Paper_evidence: WBPaper00006431
              Curator_confirmed: WBPerson2021
      WBPhenotype:0001510 Paper_evidence: WBPaper00006431
        Curator_confirmed: WBPerson2021
        Remark: ahr-1(ju145) mutation alters multiple differentiated features of RMEL/R and transforms them into RMED/V-like neurons. Paper_evidence: WBPaper00006431
            Curator_confirmed: WBPerson2021
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00006431
            Curator_confirmed: WBPerson2021
        EQ_annotations: Anatomy_term: WBbt:0005025 PATO:0000460 Paper_evidence: WBPaper00006431
                Curator_confirmed: WBPerson2021
            WBbt:0005023 PATO:0000460 Paper_evidence: WBPaper00006431
                Curator_confirmed: WBPerson2021
        Phenotype_assay: Genotype: juEx517 [avr-15p::GFP], vbEx1 [clh-6p::GFP], nuIs25 [glr-1p::GFP], otEx406 [lim-6p::GFP], otIs37 [unc-47ps::GFP] Paper_evidence: WBPaper00006431
              Curator_confirmed: WBPerson2021
      WBPhenotype:0002261 Paper_evidence: WBPaper00042557
        Curator_confirmed: WBPerson712
        Remark: ahr-1 mutants display a phenotype similar to aha-1 mutants. Paper_evidence: WBPaper00042557
            Curator_confirmed: WBPerson712
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00042557
            Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0006826 PATO:0000460 Paper_evidence: WBPaper00042557
                Curator_confirmed: WBPerson712
            WBbt:0005490 PATO:0000460 Paper_evidence: WBPaper00042557
                Curator_confirmed: WBPerson712
    Phenotype_not_observed: WBPhenotype:0001765 Paper_evidence: WBPaper00031936
        Curator_confirmed: WBPerson2021
        Remark: AHR-1 mutants respond normally to CO2 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
  Disease_info: Modifies_disease: DOID:1289
    Modifies_disease_in_annotation: WBDOannot00001389
      WBDOannot00001390
  Reference: WBPaper00006431
    WBPaper00031936
    WBPaper00042557
    WBPaper00060797
    WBPaper00049229
    WBPaper00064073
  Method: Substitution_allele