Incidental Mutation 'R2315:Fbxo32'
ID 245466
Institutional Source Beutler Lab
Gene Symbol Fbxo32
Ensembl Gene ENSMUSG00000022358
Gene Name F-box protein 32
Synonyms atrogin-1, ATROGIN1, MAFbx, 4833442G10Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2315 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 58039275-58078288 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 58071431 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 50 (N50S)
Ref Sequence ENSEMBL: ENSMUSP00000022986 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022986]
AlphaFold Q9CPU7
Predicted Effect probably benign
Transcript: ENSMUST00000022986
AA Change: N50S

PolyPhen 2 Score 0.285 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000022986
Gene: ENSMUSG00000022358
AA Change: N50S

DomainStartEndE-ValueType
Blast:FBOX 228 269 6e-16 BLAST
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency
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 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
Total: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cnot1 C T 8: 96,475,690 (GRCm39) G995R probably damaging Het
Cntn2 T C 1: 132,450,735 (GRCm39) T547A probably benign Het
Ddx20 A G 3: 105,586,015 (GRCm39) Y777H probably damaging Het
Fsip2 G C 2: 82,805,437 (GRCm39) M585I probably benign Het
Gm13941 A G 2: 110,935,162 (GRCm39) S23P unknown Het
Gpat4 G A 8: 23,670,171 (GRCm39) P286L probably damaging Het
Hoxa2 A G 6: 52,139,871 (GRCm39) probably benign Het
Hydin A G 8: 111,124,676 (GRCm39) I562V probably benign Het
Kif20b T A 19: 34,908,999 (GRCm39) L179M probably damaging Het
Myl3 T C 9: 110,595,809 (GRCm39) L102P probably damaging Het
Pag1 C T 3: 9,764,824 (GRCm39) V110I probably damaging Het
Scube2 A G 7: 109,403,908 (GRCm39) F861L probably damaging Het
Serpina3n A T 12: 104,378,627 (GRCm39) I316F possibly damaging Het
Sez6l A G 5: 112,612,463 (GRCm39) S493P probably benign Het
Sult1c2 T A 17: 54,145,521 (GRCm39) T52S possibly damaging Het
Tmem59l A G 8: 70,939,951 (GRCm39) L6S unknown Het
Vmn2r17 A C 5: 109,575,897 (GRCm39) D256A probably damaging Het
Xylb T C 9: 119,188,335 (GRCm39) F47S probably benign Het
Zim1 T C 7: 6,680,067 (GRCm39) D532G possibly damaging Het
Other mutations in Fbxo32
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01584:Fbxo32 APN 15 58,047,632 (GRCm39) missense probably damaging 0.98
IGL02371:Fbxo32 APN 15 58,044,860 (GRCm39) utr 3 prime probably benign
IGL02721:Fbxo32 APN 15 58,046,358 (GRCm39) missense possibly damaging 0.85
R0277:Fbxo32 UTSW 15 58,047,605 (GRCm39) missense probably damaging 1.00
R0323:Fbxo32 UTSW 15 58,047,605 (GRCm39) missense probably damaging 1.00
R1661:Fbxo32 UTSW 15 58,054,865 (GRCm39) missense probably damaging 1.00
R2321:Fbxo32 UTSW 15 58,054,689 (GRCm39) missense possibly damaging 0.52
R2849:Fbxo32 UTSW 15 58,071,368 (GRCm39) missense probably benign
R4233:Fbxo32 UTSW 15 58,055,729 (GRCm39) missense possibly damaging 0.81
R4569:Fbxo32 UTSW 15 58,044,873 (GRCm39) missense probably damaging 0.99
R6856:Fbxo32 UTSW 15 58,078,037 (GRCm39) start gained probably benign
R7747:Fbxo32 UTSW 15 58,054,757 (GRCm39) missense probably damaging 1.00
R7868:Fbxo32 UTSW 15 58,077,986 (GRCm39) missense probably damaging 1.00
R8317:Fbxo32 UTSW 15 58,068,626 (GRCm39) missense probably damaging 1.00
R9009:Fbxo32 UTSW 15 58,046,358 (GRCm39) missense possibly damaging 0.85
Z1176:Fbxo32 UTSW 15 58,068,638 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGCTGTCTAATAAGAGAGGCAC -3'
(R):5'- AAGTCTGTGTCTGCATGGAC -3'

Sequencing Primer
(F):5'- AGAGGTCCTGAGTTCAATTCCCAG -3'
(R):5'- CTGTGTCTGCATGGACTTTGG -3'
Posted On 2014-10-30