|Institutional Source||Beutler Lab|
|Gene Name||F-box protein 8|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R0732 (G1)|
|Chromosomal Location||56551090-56593939 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 56591529 bp|
|Amino Acid Change||Isoleucine to Asparagine at position 289 (I289N)|
|Ref Sequence||ENSEMBL: ENSMUSP00000037544 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000040218] [ENSMUST00000110322]|
|Predicted Effect||probably damaging
AA Change: I289N
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: I289N
|Predicted Effect||probably benign
|Predicted Effect||noncoding transcript
|Coding Region Coverage||
|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 an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class. It contains a C-terminal amino acid sequence that bears a significant similarity with a portion of yeast Sec7p, a critical regulator of vesicular protein transport. This human protein may interact with ADP-ribosylation factor(s)(ARFs) and exhibit ARF-GEF (guanine nucleotide exchange factor) activity. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Fbxo8||
(F):5'- GTCACCTGGAAGCAAAGCCTAGAC -3'
(R):5'- ATGCAACCCTGCTGCCACTAAG -3'
(F):5'- CTAGACCCACAGGGTGGATTG -3'
(R):5'- ACTAAGTCTGTCCCTGGGTAGC -3'