|Institutional Source||Beutler Lab|
|Gene Name||F-box and leucine-rich repeat protein 7|
|Synonyms||D230018M15Rik, Fbl6, FBL7|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R6256 (G1)|
|Chromosomal Location||26540459-26895580 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 26553002 bp|
|Amino Acid Change||Cysteine to Serine at position 60 (C60S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000061305 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000059204]|
|Predicted Effect||probably benign
AA Change: C60S
PolyPhen 2 Score 0.162 (Sensitivity: 0.92; Specificity: 0.87)
AA Change: C60S
|Meta Mutation Damage Score||0.0696|
|Coding Region Coverage||
|Validation Efficiency||99% (74/75)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the F-box protein family which is characterized by a 42-48 amino acid motif, the F-box, which binds to the S-phase kinase-associated protein 1 (Skp1) protein. The F-box proteins constitute one of the four subunits of E3 ubiquitin protein ligases called SCFs (SKP1-Cul1-F-box), which play a role in phosphorylation-dependent ubiquitination of proteins. The F-box proteins are divided into 3 subfamilies based on the other domain in the protein: F-box proteins that also have a WD-40 domain (Fbws subfamily), F-box proteins that also have leucine-rich repeats (Fbls subfamily) and F-box proteins that contain other motifs or lack known protein-interaction domains (Fbxs subfamily). The protein encoded by this gene belongs to the Fbls subfamily. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, May 2013]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Fbxl7||
(F):5'- GAAGATCTGCACCATGGAGTG -3'
(R):5'- CCACTGTGAGAAGCTTCACAG -3'
(F):5'- GGTCCGGGAGCCTGTCTATG -3'
(R):5'- CATGCTGCTTATGCTCTGAAG -3'