WormBase Tree Display for Variation: WBVar00249122

WBVar00249122 Evidence: Paper_evidence: WBPaper00003574
  Name: Public_name: t1512
    Other_name (12)
    HGVSg: CHROMOSOME_III:g.13722275T>C
  Sequence_details: SMap: S_parent: Sequence: W06F12
    Flanking_sequences: aatatttccaattttgcaggactaaaatatt gcacactgcaaacatcctgcatcgagacatc
    Mapping_target: W06F12
    Type_of_mutation: Substitution: t c Paper_evidence: WBPaper00003574
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00007762
      WBStrain00008483
    Laboratory: GE
    Status: Live
  Affects: Gene: WBGene00003048
    Transcript: W06F12.1a.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        HGVSc: W06F12.1a.1:c.1070T>C
        HGVSp: CE29476:p.Leu357Ser
        cDNA_position: 1070
        CDS_position: 1070
        Protein_position: 357
        Exon_number: 9/11
        Codon_change: tTg/tCg
        Amino_acid_change: L/S
      W06F12.1c.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        HGVSc: W06F12.1c.1:c.479T>C
        HGVSp: CE29478:p.Leu160Ser
        cDNA_position: 747
        CDS_position: 479
        Protein_position: 160
        Exon_number: 6/8
        Codon_change: tTg/tCg
        Amino_acid_change: L/S
      W06F12.1b.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        HGVSc: W06F12.1b.1:c.554T>C
        HGVSp: CE29477:p.Leu185Ser
        cDNA_position: 601
        CDS_position: 554
        Protein_position: 185
        Exon_number: 7/9
        Codon_change: tTg/tCg
        Amino_acid_change: L/S
      W06F12.1e.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        HGVSc: W06F12.1e.1:c.530T>C
        HGVSp: CE37161:p.Leu177Ser
        cDNA_position: 530
        CDS_position: 530
        Protein_position: 177
        Exon_number: 5/6
        Codon_change: tTg/tCg
        Amino_acid_change: L/S
      W06F12.1d.2 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        HGVSc: W06F12.1d.2:c.971T>C
        HGVSp: CE37160:p.Leu324Ser
        cDNA_position: 1057
        CDS_position: 971
        Protein_position: 324
        Exon_number: 11/13
        Codon_change: tTg/tCg
        Amino_acid_change: L/S
      W06F12.1d.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        HGVSc: W06F12.1d.1:c.971T>C
        HGVSp: CE37160:p.Leu324Ser
        cDNA_position: 1095
        CDS_position: 971
        Protein_position: 324
        Exon_number: 11/13
        Codon_change: tTg/tCg
        Amino_acid_change: L/S
      W06F12.1d.3 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        HGVSc: W06F12.1d.3:c.971T>C
        HGVSp: CE37160:p.Leu324Ser
        cDNA_position: 1022
        CDS_position: 971
        Protein_position: 324
        Exon_number: 10/12
        Codon_change: tTg/tCg
        Amino_acid_change: L/S
    Interactor (20)
  Genetics: Interpolated_map_position: III 21.4033
  Description: Phenotype: WBPhenotype:0000006 Paper_evidence: WBPaper00002946
        Curator_confirmed: WBPerson2021
        Remark: At 25C, some lit-1 homozygotes (derived from lit-1/+ mothers) are Egl Paper_evidence: WBPaper00002946
            Curator_confirmed: WBPerson2021
        Variation_effect: Hypomorph_reduction_of_function: Paper_evidence: WBPaper00002946
            Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000041 PATO:0000460 Paper_evidence: WBPaper00002946
                Curator_confirmed: WBPerson2021
        Temperature_sensitive: Heat_sensitive: 25 Paper_evidence: WBPaper00002946
              Curator_confirmed: WBPerson2021
        Phenotype_assay: Temperature: 25C Paper_evidence: WBPaper00002946
              Curator_confirmed: WBPerson2021
          Genotype: unc-32(e189) Paper_evidence: WBPaper00002946
              Curator_confirmed: WBPerson2021
      WBPhenotype:0000050 Paper_evidence: WBPaper00037107
        Curator_confirmed: WBPerson503
      WBPhenotype:0000052 Paper_evidence: WBPaper00002946
        Curator_confirmed: WBPerson2021
        Penetrance: Complete: 100 percent Mel at 20C Paper_evidence: WBPaper00002946
              Curator_confirmed: WBPerson2021
        Variation_effect: Hypomorph_reduction_of_function: Paper_evidence: WBPaper00002946
            Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000003 PATO:0000460 Paper_evidence: WBPaper00002946
                Curator_confirmed: WBPerson2021
        Temperature_sensitive: Heat_sensitive: 25 Paper_evidence: WBPaper00002946
              Curator_confirmed: WBPerson2021
        Maternal: Strictly_maternal: Paper_evidence: WBPaper00002946
            Curator_confirmed: WBPerson2021
        Phenotype_assay: Temperature: 20C, 25C Paper_evidence: WBPaper00002946
              Curator_confirmed: WBPerson2021
          Genotype: unc-32(e189) Paper_evidence: WBPaper00002946
              Curator_confirmed: WBPerson2021
      WBPhenotype:0000097 Paper_evidence: WBPaper00002946
        Curator_confirmed: WBPerson2021
        Remark: The AB blastomere produces only 2 instead of 7 specific pharyngeal cells. Also AB blastomere generates only 6 of 20 hypodermal seam cells Paper_evidence: WBPaper00002946
            Curator_confirmed: WBPerson2021
        Variation_effect: Hypomorph_reduction_of_function: Paper_evidence: WBPaper00002946
            Curator_confirmed: WBPerson2021
        EQ_annotations: Anatomy_term: WBbt:0004015 PATO:0000460 Paper_evidence: WBPaper00002946
                Curator_confirmed: WBPerson2021
          Life_stage: WBls:0000003 PATO:0000460 Paper_evidence: WBPaper00002946
                Curator_confirmed: WBPerson2021
        Temperature_sensitive: Heat_sensitive: 25 Paper_evidence: WBPaper00002946
              Curator_confirmed: WBPerson2021
        Maternal: Strictly_maternal: Paper_evidence: WBPaper00002946
            Curator_confirmed: WBPerson2021
        Phenotype_assay: Treatment: AB blastomeres are isolated via laser ablation, followed by staining with 3NB12. lit-1 mutants were stained with NE2-1B14 (seam cell) antibodies Paper_evidence: WBPaper00002946
              Curator_confirmed: WBPerson2021
          Temperature: 25C Paper_evidence: WBPaper00002946
              Curator_confirmed: WBPerson2021
      WBPhenotype:0000104 Paper_evidence: WBPaper00003570
        Curator_confirmed: WBPerson712
        Remark: Less than 50% of animals exhibit altered T cell division polarity, in all of these cases, daughter cells exhibit symmetric cell division. Paper_evidence: WBPaper00003570
            Curator_confirmed: WBPerson712
        Penetrance: Incomplete: Paper_evidence: WBPaper00003570
              Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0004946 PATO:0000460 Paper_evidence: WBPaper00003570
                Curator_confirmed: WBPerson712
            WBbt:0004944 PATO:0000460 Paper_evidence: WBPaper00003570
                Curator_confirmed: WBPerson712
      WBPhenotype:0000414 Paper_evidence: WBPaper00002946
        Curator_confirmed: WBPerson2021
        Remark: The E-lineage in t1512 mutants adopts an MS-like fate Paper_evidence: WBPaper00002946
            Curator_confirmed: WBPerson2021
        Variation_effect: Hypomorph_reduction_of_function: Paper_evidence: WBPaper00002946
            Curator_confirmed: WBPerson2021
        EQ_annotations: Anatomy_term: WBbt:0004804 PATO:0000460 Paper_evidence: WBPaper00002946
                Curator_confirmed: WBPerson2021
          Life_stage: WBls:0000003 PATO:0000460 Paper_evidence: WBPaper00002946
                Curator_confirmed: WBPerson2021
        Temperature_sensitive: Heat_sensitive: 25 Paper_evidence: WBPaper00002946
              Curator_confirmed: WBPerson2021
        Maternal: Strictly_maternal: Paper_evidence: WBPaper00002946
            Curator_confirmed: WBPerson2021
        Phenotype_assay: Temperature: 25C Paper_evidence: WBPaper00002946
              Curator_confirmed: WBPerson2021
      WBPhenotype:0000472 Paper_evidence: WBPaper00003570
        Curator_confirmed: WBPerson712
        Remark: No animals lack endoderm at 15 deg C. This phenotype is only partially rescued by [LIT-1::GFP]. Paper_evidence: WBPaper00003570
            Curator_confirmed: WBPerson712
        Temperature_sensitive: Heat_sensitive: 25 Paper_evidence: WBPaper00003570
              Curator_confirmed: WBPerson712
      WBPhenotype:0000688 Paper_evidence: WBPaper00002946
        Curator_confirmed: WBPerson2021
        Remark: At 25C, some lit-1 homozygotes (derived from lit-1/+ mothers) are sterile Paper_evidence: WBPaper00002946
            Curator_confirmed: WBPerson2021
        Variation_effect: Hypomorph_reduction_of_function: Paper_evidence: WBPaper00002946
            Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000041 PATO:0000460 Paper_evidence: WBPaper00002946
                Curator_confirmed: WBPerson2021
        Temperature_sensitive: Heat_sensitive: 25 Paper_evidence: WBPaper00002946
              Curator_confirmed: WBPerson2021
        Phenotype_assay: Temperature: 25C Paper_evidence: WBPaper00002946
              Curator_confirmed: WBPerson2021
          Genotype: unc-32(e189) Paper_evidence: WBPaper00002946
              Curator_confirmed: WBPerson2021
      WBPhenotype:0000832 Paper_evidence: WBPaper00002946
        Curator_confirmed: WBPerson2021
        Remark: In the C-lineage, Cap descendants adopt the same fate pattern as the anterior Caa descendants (hypodermal fate at the expense of body-wall muscle) Paper_evidence: WBPaper00002946
            Curator_confirmed: WBPerson2021
        Variation_effect: Hypomorph_reduction_of_function: Paper_evidence: WBPaper00002946
            Curator_confirmed: WBPerson2021
        EQ_annotations: Anatomy_term: WBbt:0003810 PATO:0000460 Paper_evidence: WBPaper00002946
                Curator_confirmed: WBPerson2021
          Life_stage: WBls:0000003 PATO:0000460 Paper_evidence: WBPaper00002946
                Curator_confirmed: WBPerson2021
        Temperature_sensitive: Heat_sensitive: 25 Paper_evidence: WBPaper00002946
              Curator_confirmed: WBPerson2021
        Maternal: Strictly_maternal: Paper_evidence: WBPaper00002946
            Curator_confirmed: WBPerson2021
        Phenotype_assay: Temperature: 25C Paper_evidence: WBPaper00002946
              Curator_confirmed: WBPerson2021
      WBPhenotype:0000834 Paper_evidence: WBPaper00002946
        Curator_confirmed: WBPerson2021
        Remark: The E-lineage in t1512 mutants execute an MS-like lineage pattern Paper_evidence: WBPaper00002946
            Curator_confirmed: WBPerson2021
        Variation_effect: Hypomorph_reduction_of_function: Paper_evidence: WBPaper00002946
            Curator_confirmed: WBPerson2021
        EQ_annotations: Anatomy_term: WBbt:0004804 PATO:0000460 Paper_evidence: WBPaper00002946
                Curator_confirmed: WBPerson2021
          Life_stage: WBls:0000003 PATO:0000460 Paper_evidence: WBPaper00002946
                Curator_confirmed: WBPerson2021
        Temperature_sensitive: Heat_sensitive: 25 Paper_evidence: WBPaper00002946
              Curator_confirmed: WBPerson2021
        Maternal: Strictly_maternal: Paper_evidence: WBPaper00002946
            Curator_confirmed: WBPerson2021
        Phenotype_assay: Temperature: 25C Paper_evidence: WBPaper00002946
              Curator_confirmed: WBPerson2021
      WBPhenotype:0000933 Paper_evidence: WBPaper00002946
        Curator_confirmed: WBPerson2021
        Remark: Anterior sublineages are not only expressed in their normal positions but also in more posterior positions. For example, MSap and MSpp adopt the same fates as MSaa and MSpa respectively Paper_evidence: WBPaper00002946
            Curator_confirmed: WBPerson2021
        Variation_effect: Hypomorph_reduction_of_function: Paper_evidence: WBPaper00002946
            Curator_confirmed: WBPerson2021
        EQ_annotations: Anatomy_term: WBbt:0004458 PATO:0000460 Paper_evidence: WBPaper00002946
                Curator_confirmed: WBPerson2021
          Life_stage: WBls:0000003 PATO:0000460 Paper_evidence: WBPaper00002946
                Curator_confirmed: WBPerson2021
        Temperature_sensitive: Heat_sensitive: 25 Paper_evidence: WBPaper00002946
              Curator_confirmed: WBPerson2021
        Maternal: Strictly_maternal: Paper_evidence: WBPaper00002946
            Curator_confirmed: WBPerson2021
        Phenotype_assay: Temperature: 25C Paper_evidence: WBPaper00002946
              Curator_confirmed: WBPerson2021
      WBPhenotype:0001225 Paper_evidence: WBPaper00004350
        Curator_confirmed: WBPerson712
        Phenotype_assay: Temperature: 18 Paper_evidence: WBPaper00004350
              Curator_confirmed: WBPerson712
      WBPhenotype:0001408 Paper_evidence: WBPaper00003570
        Curator_confirmed: WBPerson712
        Remark: Sister cells resulting from AP divisions expressed similar levels of POP-1 protein as opposed to asymmetric levels as observed for control animals. Paper_evidence: WBPaper00003570
            Curator_confirmed: WBPerson712
      WBPhenotype:0001597 Paper_evidence: WBPaper00002946
        Curator_confirmed: WBPerson2021
        Remark: MS produces only 3 instead of 28 body-wall muscle cells. Body-wall muscle cells are also significantly reduced from 32 to 9 in the C-blastomere Paper_evidence: WBPaper00002946
            Curator_confirmed: WBPerson2021
        Variation_effect: Hypomorph_reduction_of_function: Paper_evidence: WBPaper00002946
            Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000003 PATO:0000460 Paper_evidence: WBPaper00002946
                Curator_confirmed: WBPerson2021
        Temperature_sensitive: Heat_sensitive: 25 Paper_evidence: WBPaper00002946
              Curator_confirmed: WBPerson2021
        Maternal: Strictly_maternal: Paper_evidence: WBPaper00002946
            Curator_confirmed: WBPerson2021
        Phenotype_assay: Treatment: Target blastomeres (such as C and EMS) are isolated via laser ablation, followed by staining with NE8 4C6.3 antibody Paper_evidence: WBPaper00002946
              Curator_confirmed: WBPerson2021
          Temperature: 25C Paper_evidence: WBPaper00002946
              Curator_confirmed: WBPerson2021
      WBPhenotype:0001635 Paper_evidence: WBPaper00002946
        Curator_confirmed: WBPerson2021
        Remark: Embryos have an excess of MS-like pharyngeal cells that are derived from E blastomere. Also MS blastomere generates 10 extra pharyngeal cells Paper_evidence: WBPaper00002946
            Curator_confirmed: WBPerson2021
        Variation_effect: Hypomorph_reduction_of_function: Paper_evidence: WBPaper00002946
            Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000003 PATO:0000460 Paper_evidence: WBPaper00002946
                Curator_confirmed: WBPerson2021
        Temperature_sensitive: Heat_sensitive: 25 Paper_evidence: WBPaper00002946
              Curator_confirmed: WBPerson2021
        Maternal: Strictly_maternal: Paper_evidence: WBPaper00002946
            Curator_confirmed: WBPerson2021
        Phenotype_assay: Treatment: Target blastomeres (such as E or MS) are isolated via laser ablation, followed by staining with 3NB12 antibody Paper_evidence: WBPaper00002946
              Curator_confirmed: WBPerson2021
          Temperature: 25C Paper_evidence: WBPaper00002946
              Curator_confirmed: WBPerson2021
      WBPhenotype:0001637 Paper_evidence: WBPaper00002946
        Curator_confirmed: WBPerson2021
        Remark: Embryos completely lack E-blastomere derived intestinal cells Paper_evidence: WBPaper00002946
            Curator_confirmed: WBPerson2021
        Variation_effect: Hypomorph_reduction_of_function: Paper_evidence: WBPaper00002946
            Curator_confirmed: WBPerson2021
        EQ_annotations: Life_stage: WBls:0000003 PATO:0000460 Paper_evidence: WBPaper00002946
                Curator_confirmed: WBPerson2021
        Temperature_sensitive: Heat_sensitive: 25 Paper_evidence: WBPaper00002946
              Curator_confirmed: WBPerson2021
        Maternal: Strictly_maternal: Paper_evidence: WBPaper00002946
            Curator_confirmed: WBPerson2021
        Phenotype_assay: Treatment: Staining with ICB4 antibody Paper_evidence: WBPaper00002946
              Curator_confirmed: WBPerson2021
          Temperature: 25C Paper_evidence: WBPaper00002946
              Curator_confirmed: WBPerson2021
      WBPhenotype:0001968 Paper_evidence: WBPaper00005116
        Curator_confirmed: WBPerson2987
        Remark: Table 4 Paper_evidence: WBPaper00005116
            Curator_confirmed: WBPerson2987
    Phenotype_not_observed: WBPhenotype:0000155 Paper_evidence: WBPaper00003570
        Curator_confirmed: WBPerson712
        Remark: 0% of animals exhibited reversed T cell division polarity. Paper_evidence: WBPaper00003570
            Curator_confirmed: WBPerson712
        Penetrance: Incomplete: Paper_evidence: WBPaper00003570
              Curator_confirmed: WBPerson712
        EQ_annotations: Anatomy_term: WBbt:0004946 PATO:0000460 Paper_evidence: WBPaper00003570
                Curator_confirmed: WBPerson712
            WBbt:0004944 PATO:0000460 Paper_evidence: WBPaper00003570
                Curator_confirmed: WBPerson712
  Reference: WBPaper00037107
    WBPaper00004350
    WBPaper00003570
    WBPaper00005116
    WBPaper00002946
    WBPaper00023727
    WBPaper00018985
  Method: Substitution_allele