WormBase Tree Display for Variation: WBVar00144405

WBVar00144405 Evidence: Paper_evidence: WBPaper00033006
  Name: Public_name: e1931
    Other_name: C37C3.6a.2:c.*1999C>T
      C37C3.6a.1:c.*1999C>T
      C37C3.6b.1:c.5440C>T
      CE17536:p.Gln1814Ter
    HGVSg: CHROMOSOME_V:g.7840951C>T
  Sequence_details: SMap: S_parent: Sequence: C37C3
    Flanking_sequences: ccagatggtaccatgacccaaaaacatcc aatgtcaaatgatgatgtggactggatgcgg
    Mapping_target: C37C3
    Type_of_mutation: Substitution: c t Paper_evidence: WBPaper00033006
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00004497
      WBStrain00029140
    Laboratory: CB
    Status: Live
  Affects: Gene: WBGene00003242
    Transcript: C37C3.6b.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: C37C3.6b.1:c.5440C>T
        HGVSp: CE17536:p.Gln1814Ter
        cDNA_position: 5512
        CDS_position: 5440
        Protein_position: 1814
        Exon_number: 18/20
        Codon_change: Caa/Taa
        Amino_acid_change: Q/*
      C37C3.6a.2 VEP_consequence: 3_prime_UTR_variant
        VEP_impact: MODIFIER
        HGVSc: C37C3.6a.2:c.*1999C>T
        cDNA_position: 6686
        Exon_number: 17/18
      C37C3.6a.1 VEP_consequence: 3_prime_UTR_variant
        VEP_impact: MODIFIER
        HGVSc: C37C3.6a.1:c.*1999C>T
        cDNA_position: 6744
        Exon_number: 17/18
  Genetics: Interpolated_map_position: V 0.91475
  Description: Phenotype: WBPhenotype:0000195 Paper_evidence: WBPaper00033006
        Person_evidence: WBPerson261
        Curator_confirmed: WBPerson2021
          WBPerson712
        Remark: DTC migration is extremely slow relative to the wild type, resulting in foreshortened gonad arms Paper_evidence: WBPaper00033006
            Curator_confirmed: WBPerson2021
          distal tip cells fail to migrate Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
        Penetrance: Complete: Paper_evidence: WBPaper00033006
              Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00033006
          Curator_confirmed: WBPerson2021
        EQ_annotations: Anatomy_term: WBbt:0006865 PATO:0000460 Paper_evidence: WBPaper00033006
                Curator_confirmed: WBPerson2021
      WBPhenotype:0000688 Paper_evidence: WBPaper00033006
        Person_evidence: WBPerson261
        Curator_confirmed: WBPerson2021
          WBPerson712
        Remark: mig-6(l) mutant animals are completely sterile Paper_evidence: WBPaper00033006
            Curator_confirmed: WBPerson2021
        Penetrance: Complete: Paper_evidence: WBPaper00033006
              Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00033006
          Curator_confirmed: WBPerson2021
    Phenotype_not_observed: WBPhenotype:0001652 Paper_evidence: WBPaper00032446
        Curator_confirmed: WBPerson2021
      WBPhenotype:0001920 Paper_evidence: WBPaper00037071
        Curator_confirmed: WBPerson712
        Remark: Unlike et4 and sa580, this allele does not exhibit any twisted pharynx phenotype. Paper_evidence: WBPaper00037071
            Curator_confirmed: WBPerson712
  Reference: WBPaper00037071
    WBPaper00032446
    WBPaper00033006
  Method: Substitution_allele