WormBase Tree Display for Variation: WBVar00093957
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| WBVar00093957 | Name | Public_name | ok2862 | ||||
|---|---|---|---|---|---|---|---|
| Other_name | CE32428:p.Val478GlufsTer17 | ||||||
| F53B6.2c.1:c.1432_1949del | |||||||
| F53B6.2b.1:c.436_953del | |||||||
| F53B6.2a.1:c.1438_1955del | |||||||
| CE32429:p.Val146GlufsTer17 | |||||||
| CE36859:p.Val480GlufsTer17 | |||||||
| HGVSg | CHROMOSOME_I:g.8933377_8934007del | ||||||
| Sequence_details | SMap | S_parent | Sequence | F53B6 | |||
| Flanking_sequences | gccactccaccaattcccaatgtcaatttc | ctgaatgcatttgagagcagctttttgttt | |||||
| Mapping_target | F53B6 | ||||||
| Type_of_mutation | Deletion | ||||||
| PCR_product | ok2862_external | ||||||
| ok2862_internal | |||||||
| SeqStatus | Sequenced | ||||||
| Variation_type | Allele | ||||||
| Origin | Species | Caenorhabditis elegans | |||||
| Strain | WBStrain00032830 | ||||||
| Laboratory | RB | ||||||
| Person | WBPerson46 | ||||||
| KO_consortium_allele | |||||||
| Status | Live | ||||||
| Affects | Gene | WBGene00009958 | |||||
| Transcript | F53B6.2c.1 | VEP_consequence | splice_acceptor_variant,splice_donor_variant,frameshift_variant,stop_lost,intron_variant | ||||
| VEP_impact | HIGH | ||||||
| HGVSc | F53B6.2c.1:c.1432_1949del | ||||||
| HGVSp | CE32428:p.Val478GlufsTer17 | ||||||
| cDNA_position | 1520-2037 | ||||||
| CDS_position | 1432-1949 | ||||||
| Protein_position | 478-650 | ||||||
| Intron_number | 11/17 | ||||||
| Exon_number | 11-12/18 | ||||||
| Codon_change | GTCTCAACTGGAAAGTCTGTACAATGGTCTCAATGCGATGCGCGACGACGTCCACCAGAGAAGAGTCGCCCGTGTAATCAGCACCCGTGTCCTCCGTTCTGGCTCACATCAAAATATTCCGATTGTTCGATGTCGTGTGGAAGTGGTACCGCTCGAAGAAGTGTCAAGTGTGCACAGACTGTGAGCAAGACTGATGGAGCAGATGCTCATATTGTACTTCGTGATGATCGATGCCATTTCAAGAAGCCACAGGAGACGGAAACATGCAATGTTGTTGCTTGTCCAGCTACTTGGGTGGTGAGTATTTTTAAATGAAATTAGACAGAAATTGTTTTCAAATATATTATACATACGTTTTGTAGAGTTCTTTGAATAAACGACACAACAAAATTAAATTAAACAAATTAAAGACGGCACAATGGACTGAGTGCTCACGTTCATGTGATTCTGGTGAACGCCGCCGTCAAGTTTGGTGTGAGATCCGAGATTCTCGTGGAAAAACTCAACGTCGTCCTGATGTCGAATGTGATGCAAACACAAAGCCACAAACTGTCGAGGTCTGCAGTTTTGGTTCCTGTTCTCGACCGGAATTACTATCAAATCGGGTCTTTGAACAAAATGCTGAACAAAAg/g | ||||||
| Amino_acid_change | VSTGKSVQWSQCDARRRPPEKSRPCNQHPCPPFWLTSKYSDCSMSCGSGTARRSVKCAQTVSKTDGADAHIVLRDDRCHFKKPQETETCNVVACPATWVVSIFK*N*TEIVFKYIIHTFCRVL*INDTTKLN*TN*RRHNGLSAHVHVILVNAAVKFGVRSEILVEKLNVVLMSNVMQTQSHKLSRSAVLVPVLDRNYYQIGSLNKMLNKX/X | ||||||
| F53B6.2a.1 (11) | |||||||
| F53B6.2b.1 (11) | |||||||
| Isolation | Mutagen | EMS | |||||
| Description | Phenotype | WBPhenotype:0001930 | Paper_evidence | WBPaper00040335 | |||
| Curator_confirmed | WBPerson7190 | ||||||
| Remark | Animals extend fewer muscle arms to the dorsal nerve cord compared to the ventral nerve cord | Paper_evidence | WBPaper00040335 | ||||
| Curator_confirmed | WBPerson7190 | ||||||
| Reference | WBPaper00040335 | ||||||
| Remark | Sequenced by the C. elegans Gene Knockout Consortium | Paper_evidence | WBPaper00041807 | ||||
| Method | KO_consortium_allele |
