WormBase Tree Display for Variation: WBVar00054147

WBVar00054147 Evidence: Paper_evidence: WBPaper00005871
      WBPaper00004414
    Person_evidence: WBPerson1687
  Name: Public_name: cg119
    HGVSg: CHROMOSOME_V:g.12909170_12912298del
  Sequence_details: SMap: S_parent: Sequence: F54F3
    Flanking_sequences: atcatcattgttgactgtcttccttggttt ccccgaatgtctacaatggattccaactga
    Mapping_target: F54F3
    Type_of_mutation: Deletion
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00005030
      WBStrain00047763
      WBStrain00047765
      WBStrain00047766
    Laboratory: CH
    Person: WBPerson1687
    Status: Live
  Affects: Gene: WBGene00003738
    Transcript: F54F3.1b.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,5_prime_UTR_variant,intron_variant
        VEP_impact: HIGH
        cDNA_position: ?-1413
        CDS_position: ?-1402
        Protein_position: ?-468
        Intron_number: 2-7/16
        Exon_number: 1-8/17
      F54F3.1a.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,5_prime_UTR_variant,intron_variant
        VEP_impact: HIGH
        cDNA_position: ?-1407
        CDS_position: ?-1402
        Protein_position: ?-468
        Intron_number: 2-7/17
        Exon_number: 1-8/18
      F54F3.1c.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,coding_sequence_variant,5_prime_UTR_variant,intron_variant
        VEP_impact: HIGH
        cDNA_position: ?-1413
        CDS_position: ?-1402
        Protein_position: ?-468
        Intron_number: 2-7/13
        Exon_number: 1-8/14
    Interactor: WBInteraction000502165
      WBInteraction000502168
      WBInteraction000558094
      WBInteraction000558099
      WBInteraction000558100
      WBInteraction000558105
      WBInteraction000573247
  Genetics: Interpolated_map_position: V 4.72664
    Mapping_data: In_multi_point: 4535
  Description: Phenotype: WBPhenotype:0000616 Paper_evidence: WBPaper00042396
        Curator_confirmed: WBPerson1687
        Remark: GABAergic neuromuscular junctions (NMJs) are elongated, morphologically abnormal Paper_evidence: WBPaper00042396
            Curator_confirmed: WBPerson1687
        Recessive: Paper_evidence: WBPaper00042396
          Curator_confirmed: WBPerson1687
        Variation_effect: Null: Paper_evidence: WBPaper00042396
            Curator_confirmed: WBPerson1687
        EQ_annotations: Anatomy_term: WBbt:0005190 PATO:0000460 Paper_evidence: WBPaper00042396
                Curator_confirmed: WBPerson1687
          GO_term: GO:0050808 PATO:0000460 Paper_evidence: WBPaper00042396
                Curator_confirmed: WBPerson1687
            GO:0045202 PATO:0000460 Paper_evidence: WBPaper00042396
                Curator_confirmed: WBPerson1687
      WBPhenotype:0000709 Paper_evidence: WBPaper00032026
        Curator_confirmed: WBPerson2021
        Remark: Arrested larvae of nid-1 mutants have sometimes bent pharynges Paper_evidence: WBPaper00032026
            Curator_confirmed: WBPerson2021
        Variation_effect: Null: Paper_evidence: WBPaper00032026
            Curator_confirmed: WBPerson2021
        EQ_annotations: Anatomy_term: WBbt:0003681 PATO:0000460 Paper_evidence: WBPaper00032026
                Curator_confirmed: WBPerson2021
          Life_stage: WBls:0000023 PATO:0000460 Paper_evidence: WBPaper00032026
                Curator_confirmed: WBPerson2021
        Phenotype_assay: Genotype: urEx131[LAM-1::GFP] Paper_evidence: WBPaper00032026
              Curator_confirmed: WBPerson2021
      WBPhenotype:0001224 Paper_evidence: WBPaper00053867
        Curator_confirmed: WBPerson557
        Remark: Axon guidance defects of ventral nerve cord axons. Paper_evidence: WBPaper00053867
            Curator_confirmed: WBPerson557
      WBPhenotype:0001748 Paper_evidence: WBPaper00032026
        Curator_confirmed: WBPerson2021
        Remark: Pharynges do not attach to the hypoderm Paper_evidence: WBPaper00032026
            Curator_confirmed: WBPerson2021
        Variation_effect: Null: Paper_evidence: WBPaper00032026
            Curator_confirmed: WBPerson2021
        EQ_annotations: Anatomy_term: WBbt:0003681 PATO:0000460 Paper_evidence: WBPaper00032026
                Curator_confirmed: WBPerson2021
          Life_stage: WBls:0000023 PATO:0000460 Paper_evidence: WBPaper00032026
                Curator_confirmed: WBPerson2021
        Phenotype_assay: Genotype: urEx131[LAM-1::GFP] Paper_evidence: WBPaper00032026
              Curator_confirmed: WBPerson2021
      WBPhenotype:0001785 Paper_evidence: WBPaper00046360
        Curator_confirmed: WBPerson3142
  Reference (12)
  Remark: cg119 deletion removes exons 1-7 of the nid-1 coding region plus 948 bp upstream of the ATG and is a molecular null for NID-1 Paper_evidence: WBPaper00005871
    Tc1 excision Person_evidence: WBPerson1687
  Method: Deletion_allele