WormBase Tree Display for Variation: WBVar00090574

WBVar00090574 Evidence: Paper_evidence: WBPaper00005540
  Name: Public_name: n2819
    Other_name: CE49667:p.Pro352_Arg355delinsLeuGlnGlnGly
      CE04302:p.Pro407_Arg410delinsLeuGlnGlnGly
      D2096.4a.1:c.1220_1228delinsTTCAACAAG
      D2096.4b.1:c.1055_1063delinsTTCAACAAG
    HGVSg: CHROMOSOME_IV:g.8362821_8362829delinsTTCAACAAG
  Sequence_details: SMap: S_parent: Sequence: D2096
    Flanking_sequences: ttgtgaatttggaatctcaacaggatgatc gaaggccagatatccggagagctgctgaac
    Mapping_target: D2096
    Type_of_mutation: Substitution: ctcaacaaa ttcaacaag Paper_evidence: WBPaper00005540
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00027354
    Laboratory: MT
    Status: Live
  Affects: Gene: WBGene00005019
    Transcript: D2096.4b.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        HGVSc: D2096.4b.1:c.1055_1063delinsTTCAACAAG
        HGVSp: CE49667:p.Pro352_Arg355delinsLeuGlnGlnGly
        cDNA_position: 1055-1063
        CDS_position: 1055-1063
        Protein_position: 352-355
        Exon_number: 5/5
        Codon_change: cCTCAACAAAga/cTTCAACAAGga
        Amino_acid_change: PQQR/LQQG
      D2096.4a.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        HGVSc: D2096.4a.1:c.1220_1228delinsTTCAACAAG
        HGVSp: CE04302:p.Pro407_Arg410delinsLeuGlnGlnGly
        cDNA_position: 1226-1234
        CDS_position: 1220-1228
        Protein_position: 407-410
        Exon_number: 7/8
        Codon_change: cCTCAACAAAga/cTTCAACAAGga
        Amino_acid_change: PQQR/LQQG
  Genetics: Interpolated_map_position: IV 3.71441
  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: WBPaper00005540
        Curator_confirmed: WBPerson282
      WBPhenotype:0000510 Paper_evidence: WBPaper00005540
        Curator_confirmed: WBPerson282
        Remark: Extracellular space between vulval cells reduced during L4 stage. Paper_evidence: WBPaper00005540
            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:0001078 Paper_evidence: WBPaper00005540
        Curator_confirmed: WBPerson282
        Remark: Maternal WT copy of the gene rescues this phenotype. Paper_evidence: WBPaper00005540
            Curator_confirmed: WBPerson282
      WBPhenotype:0001523 Paper_evidence: WBPaper00005540
        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: WBPaper00005540
            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
    WBPaper00005540
  Remark: n2819 contains two separate base substitutions, resulting in two missense mutations. Paper_evidence: WBPaper00005540
  Method: Substitution_allele