WormBase Tree Display for Variation: WBVar00251504

WBVar00251504 Name: Public_name: tm2656
    Other_name: C02E11.1b.1:c.2452_2763del
      C02E11.1a.1:c.2446_2757del
      CE28528:p.Ser816_Arg919del
      CE32040:p.Ser818_Arg921del
    HGVSg: CHROMOSOME_V:g.1044339_1044650del
  Sequence_details: SMap: S_parent: Sequence: C02E11
    Flanking_sequences: gtattcacaatccgggagaagcccacggat tccagcaccttttccaccgaccaaagacaa
    Mapping_target: C02E11
    Source_location: 7 CHROMOSOME_V 1044338 1044651 Inferred_automatically: National_Bioresource_Project
    Type_of_mutation: Deletion
    PCR_product: tm2656_external
      tm2656_internal
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Laboratory: FX
    Author: Mitani S
    DB_info: Database: National_Bioresource_Project seq 2656
    NBP_allele
    Status: Live
  Affects: Gene: WBGene00015344
    Transcript: C02E11.1b.1 VEP_consequence: inframe_deletion
        VEP_impact: MODERATE
        HGVSc: C02E11.1b.1:c.2452_2763del
        HGVSp: CE32040:p.Ser818_Arg921del
        cDNA_position: 2457-2768
        CDS_position: 2452-2763
        Protein_position: 818-921
        Exon_number: 8/10
        Codon_change: TCTGACTATCGATCAAATAATGTCCTCGACGAGACGGCTCACAAGAACTATGTAGCATTGGCTCCAGGAGAGTATTTTGTTCGAGCAATCCTTCAGGAATACAAGTTCTCACCGTCAACATCCACCATTGTTGTCAAGGAAGGACAACACGAGAATGTTGTGCTCAAGGGAAAACGGGTGTCATTCAGTGCCTATGGAAAAATGAGAGAAATGTCTGGAGATGCGATGAAGGATGTGATCATTGAGGCTCTTTCCGAAGGTTGTGATCTTCATCAGTCTGAAGCCACCACCAAGGAAGATGGTACCTACCGT/-
        Amino_acid_change: SDYRSNNVLDETAHKNYVALAPGEYFVRAILQEYKFSPSTSTIVVKEGQHENVVLKGKRVSFSAYGKMREMSGDAMKDVIIEALSEGCDLHQSEATTKEDGTYR/-
      C02E11.1a.1 VEP_consequence: inframe_deletion
        VEP_impact: MODERATE
        HGVSc: C02E11.1a.1:c.2446_2757del
        HGVSp: CE28528:p.Ser816_Arg919del
        cDNA_position: 2449-2760
        CDS_position: 2446-2757
        Protein_position: 816-919
        Exon_number: 8/10
        Codon_change: TCTGACTATCGATCAAATAATGTCCTCGACGAGACGGCTCACAAGAACTATGTAGCATTGGCTCCAGGAGAGTATTTTGTTCGAGCAATCCTTCAGGAATACAAGTTCTCACCGTCAACATCCACCATTGTTGTCAAGGAAGGACAACACGAGAATGTTGTGCTCAAGGGAAAACGGGTGTCATTCAGTGCCTATGGAAAAATGAGAGAAATGTCTGGAGATGCGATGAAGGATGTGATCATTGAGGCTCTTTCCGAAGGTTGTGATCTTCATCAGTCTGAAGCCACCACCAAGGAAGATGGTACCTACCGT/-
        Amino_acid_change: SDYRSNNVLDETAHKNYVALAPGEYFVRAILQEYKFSPSTSTIVVKEGQHENVVLKGKRVSFSAYGKMREMSGDAMKDVIIEALSEGCDLHQSEATTKEDGTYR/-
  Isolation: Mutagen: TMP/UV
  Genetics: Map: V
  Description: Phenotype: WBPhenotype:0000154 Paper_evidence: WBPaper00034730
        Curator_confirmed: WBPerson2021
        Remark: nra-4(tm2656) mutants showed reduced brood size Paper_evidence: WBPaper00034730
            Curator_confirmed: WBPerson2021
        Variation_effect: Hypomorph_reduction_of_function: Paper_evidence: WBPaper00034730
            Curator_confirmed: WBPerson2021
    Phenotype_not_observed: WBPhenotype:0000062 Person_evidence: WBPerson7743
        Curator_confirmed: WBPerson712
        Remark: Classified as homozygous viable by the National BioResource Project of Japan. Originally classified as lethal OR sterile by the NBRP. Person_evidence: WBPerson7743
            Curator_confirmed: WBPerson712
            Laboratory_evidence: FX
      WBPhenotype:0000421 Paper_evidence: WBPaper00034730
        Curator_confirmed: WBPerson2021
        Remark: No resistance to levamisole Paper_evidence: WBPaper00034730
            Curator_confirmed: WBPerson2021
        Variation_effect: Hypomorph_reduction_of_function: Paper_evidence: WBPaper00034730
            Curator_confirmed: WBPerson2021
        Affected_by: Molecule: WBMol:00004019 Paper_evidence: WBPaper00034730
              Curator_confirmed: WBPerson2021
      WBPhenotype:0001203 Paper_evidence: WBPaper00034730
        Curator_confirmed: WBPerson2021
        Remark: No resistance to nicotine Paper_evidence: WBPaper00034730
            Curator_confirmed: WBPerson2021
        Variation_effect: Hypomorph_reduction_of_function: Paper_evidence: WBPaper00034730
            Curator_confirmed: WBPerson2021
      WBPhenotype:0001204 Paper_evidence: WBPaper00034730
        Curator_confirmed: WBPerson2021
        Remark: No resistance to muscimol Paper_evidence: WBPaper00034730
            Curator_confirmed: WBPerson2021
        Variation_effect: Hypomorph_reduction_of_function: Paper_evidence: WBPaper00034730
            Curator_confirmed: WBPerson2021
      WBPhenotype:0001316 Paper_evidence: WBPaper00034730
        Curator_confirmed: WBPerson2021
        Remark: Agonist-induced postsynaptic currents measured in whole-cell voltage-clamped body muscle cells were normal Paper_evidence: WBPaper00034730
            Curator_confirmed: WBPerson2021
        Variation_effect: Hypomorph_reduction_of_function: Paper_evidence: WBPaper00034730
            Curator_confirmed: WBPerson2021
      WBPhenotype:0001685 Paper_evidence: WBPaper00034730
        Curator_confirmed: WBPerson2021
        Remark: Post-synaptic expression levels of immunostained UNC-29 were unaffected Paper_evidence: WBPaper00034730
            Curator_confirmed: WBPerson2021
        Variation_effect: Hypomorph_reduction_of_function: Paper_evidence: WBPaper00034730
            Curator_confirmed: WBPerson2021
  Reference: WBPaper00034730
  Remark: 2959/2960-3271/3272 (312 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