WormBase Tree Display for Variation: WBVar00094355
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| WBVar00094355 | Evidence | Paper_evidence | WBPaper00040857 | ||||
|---|---|---|---|---|---|---|---|
| Name | Public_name | ok3320 | |||||
| Other_name | CE44318:p.Ala1508GlufsTer10 | ||||||
| Y75B8A.24.2:c.4523_4911del | |||||||
| Y75B8A.24.1:c.4523_4911del | |||||||
| HGVSg | CHROMOSOME_III:g.12259752_12260140del | ||||||
| Sequence_details | SMap | S_parent | Sequence | Y75B8A | |||
| Flanking_sequences | ctcatctgccgagtaacttctcagcactct | ccaacgctagcggatggagccaagcactga | |||||
| Mapping_target | Y75B8A | ||||||
| Type_of_mutation | Deletion | ||||||
| PCR_product | ok3320_external | ||||||
| ok3320_internal | |||||||
| SeqStatus | Sequenced | ||||||
| Variation_type | Allele | ||||||
| Origin | Species | Caenorhabditis elegans | |||||
| Strain | WBStrain00037409 | ||||||
| Laboratory | RB | ||||||
| Person | WBPerson46 | ||||||
| KO_consortium_allele | |||||||
| Status | Live | ||||||
| Affects | Gene | WBGene00013557 | |||||
| Transcript | Y75B8A.24.1 | VEP_consequence | frameshift_variant | ||||
| VEP_impact | HIGH | ||||||
| HGVSc | Y75B8A.24.1:c.4523_4911del | ||||||
| HGVSp | CE44318:p.Ala1508GlufsTer10 | ||||||
| cDNA_position | 4595-4983 | ||||||
| CDS_position | 4523-4911 | ||||||
| Protein_position | 1508-1637 | ||||||
| Exon_number | 12/18 | ||||||
| Codon_change | gCTCAGGAGGATTGTGCTCTGGACTCTGAGGAGTTTTTGAGAGGGGCGTTCACTCAGGCAAAGGCGACCGGCGGTGAGAAGAATATATGGAGAGAGCAGGCCCAACTGGCGTGGGATATATCCCCGGAGCTTGCTATTCAACTGCCATCGAGGTTCCGTGGATCGCCGGAGCTCGTGAAATATGTTGATGTGCTGGTCCGAGGGCAGCCTGAACCGGTAGCCCATATCCCGGAGGCTCTTCCACTATTCCTTGGAAATGGATCTACGGTTTTTGAGACATCGGATATGTCACATGTGCTCACGTGGGCTCGATGCTCACCGGTGATGGCGTTGTCGCTGCTGACACCTCGGATCTACCCGATGCATCCGATTTCGATGCAATACGCGGTT/g | ||||||
| Amino_acid_change | AQEDCALDSEEFLRGAFTQAKATGGEKNIWREQAQLAWDISPELAIQLPSRFRGSPELVKYVDVLVRGQPEPVAHIPEALPLFLGNGSTVFETSDMSHVLTWARCSPVMALSLLTPRIYPMHPISMQYAV/X | ||||||
| Y75B8A.24.2 | VEP_consequence | frameshift_variant | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | Y75B8A.24.2:c.4523_4911del | ||||||
| HGVSp | CE44318:p.Ala1508GlufsTer10 | ||||||
| cDNA_position | 4591-4979 | ||||||
| CDS_position | 4523-4911 | ||||||
| Protein_position | 1508-1637 | ||||||
| Exon_number | 12/18 | ||||||
| Codon_change | gCTCAGGAGGATTGTGCTCTGGACTCTGAGGAGTTTTTGAGAGGGGCGTTCACTCAGGCAAAGGCGACCGGCGGTGAGAAGAATATATGGAGAGAGCAGGCCCAACTGGCGTGGGATATATCCCCGGAGCTTGCTATTCAACTGCCATCGAGGTTCCGTGGATCGCCGGAGCTCGTGAAATATGTTGATGTGCTGGTCCGAGGGCAGCCTGAACCGGTAGCCCATATCCCGGAGGCTCTTCCACTATTCCTTGGAAATGGATCTACGGTTTTTGAGACATCGGATATGTCACATGTGCTCACGTGGGCTCGATGCTCACCGGTGATGGCGTTGTCGCTGCTGACACCTCGGATCTACCCGATGCATCCGATTTCGATGCAATACGCGGTT/g | ||||||
| Amino_acid_change | AQEDCALDSEEFLRGAFTQAKATGGEKNIWREQAQLAWDISPELAIQLPSRFRGSPELVKYVDVLVRGQPEPVAHIPEALPLFLGNGSTVFETSDMSHVLTWARCSPVMALSLLTPRIYPMHPISMQYAV/X | ||||||
| Isolation | Mutagen | EMS | |||||
| Description | Phenotype_not_observed | WBPhenotype:0000436 | Paper_evidence | WBPaper00040857 | |||
| Curator_confirmed | WBPerson712 | ||||||
| Remark | Mutation did not cause SNB-1::VENUS localization defects. | Paper_evidence | WBPaper00040857 | ||||
| Curator_confirmed | WBPerson712 | ||||||
| Reference | WBPaper00040857 | ||||||
| Remark | Sequenced by the C. elegans Gene Knockout Consortium | Paper_evidence | WBPaper00041807 | ||||
| Method | KO_consortium_allele |
