|Institutional Source||Beutler Lab|
|Gene Name||F-box and WD-40 domain protein 8|
|Synonyms||Fbx29, FBW6, FBXO29, 4930438M06Rik, FBW8|
|Essential gene?||Possibly essential (E-score: 0.520)|
|Stock #||R7395 (G1)|
|Chromosomal Location||118064965-118155464 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 118068215 bp (GRCm38)|
|Amino Acid Change||Isoleucine to Asparagine at position 556 (I556N)|
|Ref Sequence||ENSEMBL: ENSMUSP00000047012 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000049474]|
AA Change: I556N
PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
AA Change: I556N
|Coding Region Coverage||
|Validation Efficiency||99% (92/93)|
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, members of which are characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into three 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 contains a WD-40 domain, in addition to an F-box motif, so it belongs to the Fbw class. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele display partial late embryonic lethality with embryonic growth retardation and abnormal placental morphology. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Fbxw8||
(F):5'- TGTGGCCACAGTCATACAGG -3'
(R):5'- CCCTGCAGATGCTTCTTCATAG -3'
(F):5'- ATGTGCTGCAGAGCCTCTC -3'
(R):5'- GCAGATGCTTCTTCATAGACACTG -3'