WormBase Tree Display for Variation: WBVar00143968
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| WBVar00143968 | Evidence | Paper_evidence | WBPaper00003957 | ||||
|---|---|---|---|---|---|---|---|
| Name | Public_name | e1392 | |||||
| Other_name | CE00895:p.Trp59Ter | ||||||
| C07B5.5.1:c.176G>A | |||||||
| HGVSg | CHROMOSOME_X:g.9540170G>A | ||||||
| Sequence_details | SMap | S_parent | Sequence | C07B5 | |||
| Flanking_sequences | cagtgacaggattggcaggtggagttgcat | gtactacgtggatgtgaataaaaagggaac | |||||
| Mapping_target | C07B5 | ||||||
| Type_of_mutation | Substitution | g | a | ||||
| SeqStatus | Sequenced | ||||||
| Variation_type | Allele | ||||||
| Origin | Species | Caenorhabditis elegans | |||||
| Strain | WBStrain00004233 | ||||||
| WBStrain00004320 | |||||||
| WBStrain00027342 | |||||||
| Laboratory | CB | ||||||
| Status | Live | ||||||
| Affects | Gene | WBGene00003828 | |||||
| Transcript | C07B5.5.1 | VEP_consequence | stop_gained | ||||
| VEP_impact | HIGH | ||||||
| HGVSc | C07B5.5.1:c.176G>A | ||||||
| HGVSp | CE00895:p.Trp59Ter | ||||||
| cDNA_position | 217 | ||||||
| CDS_position | 176 | ||||||
| Protein_position | 59 | ||||||
| Exon_number | 3/9 | ||||||
| Codon_change | tGg/tAg | ||||||
| Amino_acid_change | W/* | ||||||
| Interactor | WBInteraction000521775 | ||||||
| Genetics | Interpolated_map_position | X | 1.41614 | ||||
| Mapping_data | In_2_point | 166 | |||||
| 188 | |||||||
| In_multi_point | 282 | ||||||
| 445 | |||||||
| 643 | |||||||
| 795 | |||||||
| 3318 | |||||||
| In_pos_neg_data | 659 | ||||||
| 666 | |||||||
| Description | Phenotype | WBPhenotype:0000124 | Person_evidence | WBPerson261 | |||
| Curator_confirmed | WBPerson712 | ||||||
| Remark | major endodeoxyribonuclease reduced >95% | Person_evidence | WBPerson261 | ||||
| Curator_confirmed | WBPerson712 | ||||||
| Ease_of_scoring | ES1_Very_hard_to_score | Person_evidence | WBPerson261 | ||||
| Curator_confirmed | WBPerson712 | ||||||
| WBPhenotype:0001172 | Person_evidence | WBPerson261 | |||||
| Curator_confirmed | WBPerson712 | ||||||
| Remark | condensed chromatin persists after programmed cell death DNA in intestinal lumen not degraded | Person_evidence | WBPerson261 | ||||
| Curator_confirmed | WBPerson712 | ||||||
| WBPhenotype:0002062 | Person_evidence | WBPerson261 | |||||
| Curator_confirmed | WBPerson712 | ||||||
| Remark | condensed chromatin persists after programmed cell death DNA in intestinal lumen not degraded | Person_evidence | WBPerson261 | ||||
| Curator_confirmed | WBPerson712 | ||||||
| WBPhenotype:0002201 | Paper_evidence | WBPaper00005978 | |||||
| Curator_confirmed | WBPerson712 | ||||||
| Remark | Mutants accumulated TUNEL (TdT-mediated dUTP nick end labeling)-positive nuclei. | Paper_evidence | WBPaper00005978 | ||||
| Curator_confirmed | WBPerson712 | ||||||
| Reference | WBPaper00016056 | ||||||
| WBPaper00005978 | |||||||
| WBPaper00016289 | |||||||
| WBPaper00016456 | |||||||
| WBPaper00013648 | |||||||
| WBPaper00004241 | |||||||
| Method | Substitution_allele |
