WormBase Tree Display for Variation: WBVar00248772
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| WBVar00248772 | Evidence | Paper_evidence | WBPaper00005915 | ||||||
|---|---|---|---|---|---|---|---|---|---|
| Name | Public_name | st561 | |||||||
| Other_name | T21D12.4.1:c.430C>T | ||||||||
| CE18268:p.Arg144Ter | |||||||||
| HGVSg | CHROMOSOME_IV:g.263705G>A | ||||||||
| Sequence_details | SMap | S_parent | Sequence | T21D12 | |||||
| Flanking_sequences | cagaagctgttggaaaagttggagcagatt | gagtaagttattggtacaatttcacaaatt | |||||||
| Mapping_target | T21D12 | ||||||||
| Type_of_mutation | Substitution | c | t | ||||||
| SeqStatus | Sequenced | ||||||||
| Variation_type | Allele | ||||||||
| Origin | Species | Caenorhabditis elegans | |||||||
| Strain | WBStrain00033525 | ||||||||
| WBStrain00040329 | |||||||||
| Laboratory | RW | ||||||||
| Status | Live | ||||||||
| Affects | Gene | WBGene00003932 | |||||||
| Transcript | T21D12.4.1 | VEP_consequence | stop_gained,splice_region_variant | ||||||
| VEP_impact | HIGH | ||||||||
| HGVSc | T21D12.4.1:c.430C>T | ||||||||
| HGVSp | CE18268:p.Arg144Ter | ||||||||
| cDNA_position | 438 | ||||||||
| CDS_position | 430 | ||||||||
| Protein_position | 144 | ||||||||
| Exon_number | 4/9 | ||||||||
| Codon_change | Cga/Tga | ||||||||
| Amino_acid_change | R/* | ||||||||
| Interactor | WBInteraction000558135 | ||||||||
| WBInteraction000558136 | |||||||||
| WBInteraction000558137 | |||||||||
| WBInteraction000558138 | |||||||||
| WBInteraction000558139 | |||||||||
| WBInteraction000558140 | |||||||||
| Genetics | Interpolated_map_position | IV | -26.7487 | ||||||
| Mapping_data | In_2_point | 7000 | |||||||
| Description | Phenotype | WBPhenotype:0000053 | Paper_evidence | WBPaper00001894 | |||||
| Person_evidence | WBPerson261 | ||||||||
| Curator_confirmed | WBPerson2021 | ||||||||
| WBPerson712 | |||||||||
| Remark | Severe Pat phenotype: Embryos are paralyzed at the 1.5-fold stage. | Paper_evidence | WBPaper00001894 | ||||||
| Curator_confirmed | WBPerson2021 | ||||||||
| severe Pat phenotype | Person_evidence | WBPerson261 | |||||||
| Curator_confirmed | WBPerson712 | ||||||||
| EQ_annotations | Life_stage | WBls:0000015 | PATO:0000460 | Paper_evidence | WBPaper00001894 | ||||
| Curator_confirmed | WBPerson2021 | ||||||||
| WBPhenotype:0001569 | Paper_evidence | WBPaper00001894 | |||||||
| Curator_confirmed | WBPerson2021 | ||||||||
| Remark | MhcA does not form normal A-bands. | Paper_evidence | WBPaper00001894 | ||||||
| Curator_confirmed | WBPerson2021 | ||||||||
| EQ_annotations | Anatomy_term | WBbt:0006804 | PATO:0000460 | Paper_evidence | WBPaper00001894 | ||||
| Curator_confirmed | WBPerson2021 | ||||||||
| Life_stage | WBls:0000015 | PATO:0000460 | Paper_evidence | WBPaper00001894 | |||||
| Curator_confirmed | WBPerson2021 | ||||||||
| Phenotype_assay | Treatment | antibody staining with anti-mhcA | Paper_evidence | WBPaper00001894 | |||||
| Curator_confirmed | WBPerson2021 | ||||||||
| WBPhenotype:0001570 | Paper_evidence | WBPaper00001894 | |||||||
| Curator_confirmed | WBPerson2021 | ||||||||
| Remark | Mutants have actin staining that often appears fibrous and disorganized. | Paper_evidence | WBPaper00001894 | ||||||
| Curator_confirmed | WBPerson2021 | ||||||||
| EQ_annotations | Anatomy_term | WBbt:0006804 | PATO:0000460 | Paper_evidence | WBPaper00001894 | ||||
| Curator_confirmed | WBPerson2021 | ||||||||
| Life_stage | WBls:0000015 | PATO:0000460 | Paper_evidence | WBPaper00001894 | |||||
| Curator_confirmed | WBPerson2021 | ||||||||
| Phenotype_assay | Treatment | antibody staining with anti-actin | Paper_evidence | WBPaper00001894 | |||||
| Curator_confirmed | WBPerson2021 | ||||||||
| Reference | WBPaper00001894 | ||||||||
| WBPaper00012422 | |||||||||
| Method | Substitution_allele |
