WormBase Tree Display for Variation: WBVar00251957
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WBVar00251957 | Name | Public_name | tm3197 | |||||
---|---|---|---|---|---|---|---|---|
Other_name | C29F7.6a.1:c.497_748del | |||||||
CE51385:p.Val166_Phe249del | ||||||||
HGVSg | CHROMOSOME_X:g.13438243_13438494del | |||||||
Sequence_details | SMap | S_parent | Sequence | C29F7 | ||||
Flanking_sequences | ctggagtacggcaaattttgaaaaatcttg | ccttccagaaaaacaccaaatcagctgtgc | ||||||
Mapping_target | C29F7 | |||||||
Source_location | 7 | CHROMOSOME_X | 13438242 | 13438495 | Inferred_automatically | National_Bioresource_Project | ||
Type_of_mutation | Deletion | |||||||
PCR_product | tm3197_external | |||||||
tm3197_internal | ||||||||
SeqStatus | Sequenced | |||||||
Variation_type | Allele | |||||||
Origin | Species | Caenorhabditis elegans | ||||||
Laboratory | FX | |||||||
Author | Mitani S | |||||||
DB_info | Database | National_Bioresource_Project | seq | 3197 | ||||
NBP_allele | ||||||||
Status | Live | |||||||
Affects | Gene | WBGene00007813 | ||||||
Transcript | C29F7.6a.1 | VEP_consequence | inframe_deletion | |||||
VEP_impact | MODERATE | |||||||
HGVSc | C29F7.6a.1:c.497_748del | |||||||
HGVSp | CE51385:p.Val166_Phe249del | |||||||
cDNA_position | 529-780 | |||||||
CDS_position | 497-748 | |||||||
Protein_position | 166-250 | |||||||
Exon_number | 4/9 | |||||||
Codon_change | gTTTCCGCCGTCGAAAACTCTAAATCCAAAAATACCAGAGGAAGGAAAAGCAAAATACAATCAAATCTCACACCCATCAACGAAAAGTCAGAATGCAAAATCATAAAAAGGAAGAACGAAAAAACTCCGTTACTTCTGTTGACCGTGCCGATGTTTCTCGATCCTCTCACCACATCAGGCACCGAAATCGTGAAAAAAGCATCTGAGTGGTTGACTACAGGTCGAAACAATGTCTATAACGACAAGAAGTTTGcc/gcc | |||||||
Amino_acid_change | VSAVENSKSKNTRGRKSKIQSNLTPINEKSECKIIKRKNEKTPLLLLTVPMFLDPLTTSGTEIVKKASEWLTTGRNNVYNDKKFA/A | |||||||
Interactor | WBInteraction000521423 | |||||||
Isolation | Mutagen | TMP/UV | ||||||
Genetics | Map | X | ||||||
Description | Phenotype_not_observed | WBPhenotype:0000062 | Person_evidence | WBPerson7743 | ||||
Curator_confirmed | WBPerson712 | |||||||
Remark | Classified as homozygous viable by the National Bioresource Project of Japan. | Person_evidence | WBPerson7743 | |||||
Curator_confirmed | WBPerson712 | |||||||
Laboratory_evidence | FX | |||||||
WBPhenotype:0000643 | Person_evidence | WBPerson7743 | ||||||
Curator_confirmed | WBPerson712 | |||||||
Remark | Comments to the National Bioresource Project of Japan: Dr. Hongkyun Kim: normal locomotion. | Person_evidence | WBPerson7743 | |||||
Curator_confirmed | WBPerson712 | |||||||
Laboratory_evidence | HKK | |||||||
WBPhenotype:0000695 | Person_evidence | WBPerson7743 | ||||||
Curator_confirmed | WBPerson712 | |||||||
Remark | Comment to the NBP from Dr. M. Han: normal vulval phenotype. | Person_evidence | WBPerson7743 | |||||
Curator_confirmed | WBPerson712 | |||||||
Laboratory_evidence | MH | |||||||
WBPhenotype:0000709 | Person_evidence | WBPerson7743 | ||||||
Curator_confirmed | WBPerson712 | |||||||
Remark | Comments to the National Bioresource Project of Japan: Dr. R.H. Horvitz: pharyngeal morphology normal. | Person_evidence | WBPerson7743 | |||||
Curator_confirmed | WBPerson712 | |||||||
Laboratory_evidence | FX | |||||||
Remark | 30405/30406-30657/30658 (252 bp deletion) | |||||||
This knockout was generated by the National Bioresource Project, Tokyo, Japan, which is part of the International C. elegans Gene Knockout Consortium, which should be acknowledged in any publications resulting from its use. | Paper_evidence | WBPaper00041807 | ||||||
Method | NBP_knockout_allele |