|Institutional Source||Beutler Lab|
|Gene Name||F-box protein 18|
|Is this an essential gene?||Probably non essential (E-score: 0.223)|
|Stock #||R7011 (G1)|
|Chromosomal Location||11742573-11777582 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 11762963 bp|
|Amino Acid Change||Aspartic acid to Valine at position 358 (D358V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000071495 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000071564]|
|Predicted Effect||probably damaging
AA Change: D358V
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: D358V
|Meta Mutation Damage Score||0.256|
|Coding Region Coverage||
|Validation Efficiency||96% (66/69)|
|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, 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 belongs to the Fbx class. It contains an F-box motif and seven conserved helicase motifs, and has both DNA-dependent ATPase and DNA unwinding activities. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Fbxo18||
(F):5'- AGGACAAGTCTAGGCCTTGC -3'
(R):5'- CTTGCTGACACACTGGGTAATTTG -3'
(F):5'- GCCTTGCCACGCTATCCTAG -3'
(R):5'- CTGACACACTGGGTAATTTGAAAGG -3'