|Institutional Source||Beutler Lab|
|Gene Name||F-box protein 32|
|Synonyms||4833442G10Rik, atrogin-1, MAFbx, ATROGIN1|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R4233 (G1)|
|Chromosomal Location||58175879-58214932 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to T at 58192333 bp|
|Amino Acid Change||Threonine to Lysine at position 135 (T135K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000022986 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000022986]|
|Predicted Effect||possibly damaging
AA Change: T135K
PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
AA Change: T135K
|Meta Mutation Damage Score||0.1168|
|Coding Region Coverage||
|Validation Efficiency||100% (53/53)|
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 and contains an F-box domain. This protein is highly expressed during muscle atrophy, whereas mice deficient in this gene were found to be resistant to atrophy. This protein is thus a potential drug target for the treatment of muscle atrophy. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2011]
PHENOTYPE: A targeted homozygous mutation in this gene results in resistance to skeletal muscle atrophy in response to nerve injury. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Fbxo32||
(F):5'- GCCATGACTCACTTCTCTAGGC -3'
(R):5'- GAGCATCTGCCTTTTATTGCCTAG -3'
(F):5'- AGGCTTATACTCCTTTAAACCTAGTG -3'
(R):5'- TCTAAGCCTGGCAACTTC -3'