WormBase Tree Display for Variation: WBVar00088780

WBVar00088780 Evidence: Paper_evidence: WBPaper00002025
  Name: Public_name: mc4
    Other_name: F18A1.2c.1:c.1226G>A
      F18A1.2a.1:c.1124G>A
      CE52355:p.Trp427Ter
      CE27972:p.Trp375Ter
      CE48778:p.Met344Ile
      CE04402:p.Trp409Ter
      F18A1.2b.1:c.1032G>A
      F18A1.2d.1:c.1280G>A
    HGVSg: CHROMOSOME_II:g.7683989G>A
  Sequence_details: SMap: S_parent: Sequence: F18A1
    Flanking_sequences: ttttcagtaccgacgagatgcgtgccgaat gaatctccgccttcacgaatgcttcccaga
    Mapping_target: F18A1
    Type_of_mutation: Substitution: g a
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Laboratory: ML
    Author: Labouesse M
    Status: Live
  Affects: Gene: WBGene00003012
    Transcript: F18A1.2d.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: F18A1.2d.1:c.1280G>A
        HGVSp: CE52355:p.Trp427Ter
        cDNA_position: 1280
        CDS_position: 1280
        Protein_position: 427
        Exon_number: 5/5
        Codon_change: tGg/tAg
        Amino_acid_change: W/*
      F18A1.2b.1 (11)
      F18A1.2a.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: F18A1.2a.1:c.1124G>A
        HGVSp: CE27972:p.Trp375Ter
        cDNA_position: 1124
        CDS_position: 1124
        Protein_position: 375
        Exon_number: 4/5
        Codon_change: tGg/tAg
        Amino_acid_change: W/*
      F18A1.2c.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: F18A1.2c.1:c.1226G>A
        HGVSp: CE04402:p.Trp409Ter
        cDNA_position: 1226
        CDS_position: 1226
        Protein_position: 409
        Exon_number: 5/5
        Codon_change: tGg/tAg
        Amino_acid_change: W/*
    Interactor: WBInteraction000570606
  Genetics: Interpolated_map_position: II 0.516853
  Description: Phenotype: WBPhenotype:0000050 Paper_evidence: WBPaper00002025
        Curator_confirmed: WBPerson48
        Variation_effect: Probable_null_via_phenotype: Paper_evidence: WBPaper00002025
            Curator_confirmed: WBPerson48
      WBPhenotype:0000877 Paper_evidence: WBPaper00002551
        Curator_confirmed: WBPerson351
        Remark: The number of sheath cells still expressing LIN-26 decreases in strong lof mc4 embryos; the amphid sheath nucleus had an abnormal morphology in 10 out of 18 embryos tracked from comma stage to normal hatching time. Paper_evidence: WBPaper00002551
            Curator_confirmed: WBPerson351
        Variation_effect: Hypomorph_reduction_of_function: Paper_evidence: WBPaper00002551
            Curator_confirmed: WBPerson351
      WBPhenotype:0000951 Paper_evidence: WBPaper00002551
        Curator_confirmed: WBPerson351
        Remark: The number of socket cells still expressing LIN-26 decreases in strong lof mc4 embryos Paper_evidence: WBPaper00002551
            Curator_confirmed: WBPerson351
        Variation_effect: Hypomorph_reduction_of_function: Paper_evidence: WBPaper00002551
            Curator_confirmed: WBPerson351
        EQ_annotations: Anatomy_term: WBbt:0008379 PATO:0000460 Paper_evidence: WBPaper00002551
                Curator_confirmed: WBPerson351
      WBPhenotype:0001028 Paper_evidence: WBPaper00002551
        Curator_confirmed: WBPerson351
        Remark: The number of sheath cells still expressing LIN-26 decreases in strong lof mc4 embryos; the amphid sheath nucleus had an abnormal morphology in 10 out of 18 embryos tracked from comma stage to normal hatching time. Paper_evidence: WBPaper00002551
            Curator_confirmed: WBPerson351
        Variation_effect: Hypomorph_reduction_of_function: Paper_evidence: WBPaper00002551
            Curator_confirmed: WBPerson351
        EQ_annotations: Anatomy_term: WBbt:0006754 PATO:0000460 Paper_evidence: WBPaper00002551
                Curator_confirmed: WBPerson351
          Life_stage: WBls:0000015 PATO:0000460 Paper_evidence: WBPaper00002551
                Curator_confirmed: WBPerson351
          GO_term: GO:0005634 PATO:0000460 Paper_evidence: WBPaper00002551
                Curator_confirmed: WBPerson351
      WBPhenotype:0001407 Paper_evidence: WBPaper00002551
        Curator_confirmed: WBPerson351
        Remark: The number of socket cells still expressing LIN-26 decreases in strong lof mc4 embryos Paper_evidence: WBPaper00002551
            Curator_confirmed: WBPerson351
        Variation_effect: Hypomorph_reduction_of_function: Paper_evidence: WBPaper00002551
            Curator_confirmed: WBPerson351
        EQ_annotations: Anatomy_term: WBbt:0008379 PATO:0000460 Paper_evidence: WBPaper00002551
                Curator_confirmed: WBPerson351
          Life_stage: WBls:0000003 PATO:0000460 Paper_evidence: WBPaper00002551
                Curator_confirmed: WBPerson351
      WBPhenotype:0002569 Paper_evidence: WBPaper00002551
        Curator_confirmed: WBPerson351
        Remark: the outline of hypodermal nuclei became more difficult to distinguish in the strong mutant mc1 or mc4, suggesting a cell death or degenereration process Paper_evidence: WBPaper00002551
            Curator_confirmed: WBPerson351
        Variation_effect: Hypomorph_reduction_of_function: Paper_evidence: WBPaper00002551
            Curator_confirmed: WBPerson351
        EQ_annotations: Anatomy_term: WBbt:0005733 PATO:0000460 Paper_evidence: WBPaper00002551
                Curator_confirmed: WBPerson351
          GO_term: GO:0005634 PATO:0000460 Paper_evidence: WBPaper00002551
                Curator_confirmed: WBPerson351
  Reference: WBPaper00002025
    WBPaper00002551
  Method: Substitution_allele