|Institutional Source||Beutler Lab|
|Gene Name||F-box protein 4|
|Is this an essential gene?||Probably non essential (E-score: 0.154)|
|Stock #||R5876 (G1)|
|Chromosomal Location||3965445-3979573 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 3977819 bp|
|Amino Acid Change||Isoleucine to Asparagine at position 121 (I121N)|
|Ref Sequence||ENSEMBL: ENSMUSP00000022791 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000022791] [ENSMUST00000046633]|
|Predicted Effect||probably damaging
AA Change: I121N
PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
AA Change: I121N
|Predicted Effect||probably benign
|Predicted Effect||noncoding transcript
|Coding Region Coverage||
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. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous or heterozygous for a knock-out allele exhibit increased tumor incidence of lymphoblastic lineage and premature death. Mice homozygous for a different knock-out allele are indistinguishable from wild-type mice. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Fbxo4||
(F):5'- ACAAGGGGCATTCAGACAAATC -3'
(R):5'- AAACAGTTGCCCCAGACAGATG -3'
(F):5'- GGGGCATTCAGACAAATCCTATGC -3'
(R):5'- GTTGCCCCAGACAGATGACCTC -3'