WormBase Tree Display for Variation: WBVar00090596

WBVar00090596 Evidence: Paper_evidence: WBPaper00005800
  Name: Public_name: n2845
    Other_name: Y50D4C.4a.1:c.2290C>T
      CE50722:p.Gln84Ter
      CE35919:p.Gln764Ter
      Y50D4C.4b.1:c.1156C>T
      Y50D4C.4c.1:c.250C>T
      CE50778:p.Gln386Ter
    HGVSg: CHROMOSOME_V:g.951736G>A
  Sequence_details: SMap: S_parent: Sequence: Y50D4C
    Flanking_sequences: aacgcgcattgccacgtggattacctacgc agttcttcaaaattgccgatttttgcactt
    Mapping_target: Y50D4C
    Type_of_mutation: Substitution: c t
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00027360
    Laboratory: MT
    Status: Live
  Affects: Gene: WBGene00005024
    Transcript: Y50D4C.4b.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: Y50D4C.4b.1:c.1156C>T
        HGVSp: CE50778:p.Gln386Ter
        cDNA_position: 1156
        CDS_position: 1156
        Protein_position: 386
        Exon_number: 4/4
        Codon_change: Cag/Tag
        Amino_acid_change: Q/*
      Y50D4C.4c.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: Y50D4C.4c.1:c.250C>T
        HGVSp: CE50722:p.Gln84Ter
        cDNA_position: 250
        CDS_position: 250
        Protein_position: 84
        Exon_number: 2/2
        Codon_change: Cag/Tag
        Amino_acid_change: Q/*
      Y50D4C.4a.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: Y50D4C.4a.1:c.2290C>T
        HGVSp: CE35919:p.Gln764Ter
        cDNA_position: 2302
        CDS_position: 2290
        Protein_position: 764
        Exon_number: 8/9
        Codon_change: Cag/Tag
        Amino_acid_change: Q/*
  Genetics: Interpolated_map_position: V -19.9154
    Mapping_data: In_multi_point: 3145
        3146
  Description: Phenotype: WBPhenotype:0000040 Paper_evidence: WBPaper00003405
        Curator_confirmed: WBPerson2021
        Remark: Some eggs fail to undergo cytokinesis Paper_evidence: WBPaper00003405
            Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00003405
          Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000003 PATO:0000460 Paper_evidence: WBPaper00003405
                Curator_confirmed: WBPerson2021
      WBPhenotype:0000052 Paper_evidence: WBPaper00005800
        Curator_confirmed: WBPerson282
      WBPhenotype:0000510 Paper_evidence: WBPaper00005800
        Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
          WBPerson282
        Remark: morphology of L4 vulva abnormal (invagination considerably reduced) Person_evidence: WBPerson261
            Curator_confirmed: WBPerson712
          Extracellular space between vulval cells reduced during L4 stage. Paper_evidence: WBPaper00005800
            Curator_confirmed: WBPerson282
      WBPhenotype:0000694 Paper_evidence: WBPaper00003405
        Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00003405
          Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000057 PATO:0000460 Paper_evidence: WBPaper00003405
                Curator_confirmed: WBPerson2021
      WBPhenotype:0000862 Paper_evidence: WBPaper00003405
        Curator_confirmed: WBPerson2021
        Remark: Adults are visibly bloated with unlaid eggs Paper_evidence: WBPaper00003405
            Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00003405
          Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000057 PATO:0000460 Paper_evidence: WBPaper00003405
                Curator_confirmed: WBPerson2021
      WBPhenotype:0001078 Paper_evidence: WBPaper00005800
        Curator_confirmed: WBPerson282
        Remark: Maternal WT copy of the gene rescues this phenotype. Paper_evidence: WBPaper00005800
            Curator_confirmed: WBPerson282
      WBPhenotype:0001260 Paper_evidence: WBPaper00003405
        Curator_confirmed: WBPerson2021
        Remark: Mutants contain oocyte-like cells less than half the size of normal oocytes Paper_evidence: WBPaper00003405
            Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00003405
          Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000061 PATO:0000460 Paper_evidence: WBPaper00003405
                Curator_confirmed: WBPerson2021
      WBPhenotype:0001360 Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
      WBPhenotype:0001523 Paper_evidence: WBPaper00005800
        Curator_confirmed: WBPerson282
        Remark: Extracellular space between cell and eggshell reduced at 1-cell stage. Extracellular space between vulval cells reduced during L4 stage. Paper_evidence: WBPaper00005800
            Curator_confirmed: WBPerson282
      WBPhenotype:0006001 Paper_evidence: WBPaper00003405
        Curator_confirmed: WBPerson2021
        Recessive: Paper_evidence: WBPaper00003405
          Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000038 PATO:0000460 Paper_evidence: WBPaper00003405
                Curator_confirmed: WBPerson2021
    Phenotype_not_observed: WBPhenotype:0000707 Paper_evidence: WBPaper00031153
        Curator_confirmed: WBPerson712
        Remark: Homozygous animals from heterozygous hermaphrodites do not exhibit pharyngeal development defects. Paper_evidence: WBPaper00031153
            Curator_confirmed: WBPerson712
  Reference: WBPaper00003405
    WBPaper00031153
    WBPaper00005800
  Method: Substitution_allele