WormBase Tree Display for Variation: WBVar00089013
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| WBVar00089013 | Name | Public_name | mn40 | ||||||
|---|---|---|---|---|---|---|---|---|---|
| Other_name | CE01471:p.Gln133Ter | ||||||||
| C08B11.1.1:c.397C>T | |||||||||
| HGVSg | CHROMOSOME_II:g.8018174C>T | ||||||||
| Sequence_details | SMap | S_parent | Sequence | C08B11 | |||||
| Flanking_sequences | gatacggcactcaaccgaacttcacgacaa | agcttcgacatcttgatctgagtggacgac | |||||||
| Mapping_target | C08B11 | ||||||||
| Type_of_mutation | Substitution | c | t | Paper_evidence | WBPaper00013518 | ||||
| SeqStatus | Sequenced | ||||||||
| Variation_type | Allele | ||||||||
| Origin | Species | Caenorhabditis elegans | |||||||
| Strain | WBStrain00034144 | ||||||||
| Laboratory | SP | ||||||||
| Status | Live | ||||||||
| Affects | Gene | WBGene00006996 | |||||||
| Transcript | C08B11.1.1 | VEP_consequence | stop_gained | ||||||
| VEP_impact | HIGH | ||||||||
| HGVSc | C08B11.1.1:c.397C>T | ||||||||
| HGVSp | CE01471:p.Gln133Ter | ||||||||
| cDNA_position | 409 | ||||||||
| CDS_position | 397 | ||||||||
| Protein_position | 133 | ||||||||
| Exon_number | 4/9 | ||||||||
| Codon_change | Cag/Tag | ||||||||
| Amino_acid_change | Q/* | ||||||||
| Genetics | Interpolated_map_position | II | 0.637522 | ||||||
| Description | Phenotype | WBPhenotype:0000052 | Person_evidence | WBPerson261 | |||||
| Curator_confirmed | WBPerson712 | ||||||||
| Remark | maternal effect lethal | Person_evidence | WBPerson261 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| TSP before fertilization; L1 shift-up Mel | Person_evidence | WBPerson261 | |||||||
| Curator_confirmed | WBPerson712 | ||||||||
| WBPhenotype:0000748 | Person_evidence | WBPerson261 | |||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Remark | symmetrical first cleavage | Person_evidence | WBPerson261 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| WBPhenotype:0000749 | Person_evidence | WBPerson261 | |||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Remark | extensive early defects | Person_evidence | WBPerson261 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| WBPhenotype:0001216 | Person_evidence | WBPerson261 | |||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Remark | abnormal metaphase at meiosis II | Person_evidence | WBPerson261 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Phenotype_not_observed | WBPhenotype:0000112 | Paper_evidence | WBPaper00033119 | ||||||
| Curator_confirmed | WBPerson2021 | ||||||||
| Remark | zyg-11 mutant embryos did not show increased meiotic MEL-26 levels | Paper_evidence | WBPaper00033119 | ||||||
| Curator_confirmed | WBPerson2021 | ||||||||
| EQ_annotations | Life_stage | WBls:0000003 | PATO:0000460 | Paper_evidence | WBPaper00033119 | ||||
| Curator_confirmed | WBPerson2021 | ||||||||
| Phenotype_assay | Treatment | MEL-26 antibody staining | Paper_evidence | WBPaper00033119 | |||||
| Curator_confirmed | WBPerson2021 | ||||||||
| Reference | WBPaper00011390 | ||||||||
| WBPaper00033119 | |||||||||
| WBPaper00016158 | |||||||||
| WBPaper00016137 | |||||||||
| WBPaper00016160 | |||||||||
| Method | Substitution_allele |
