Incidental Mutation 'R7868:Fbxo32'
ID 607940
Institutional Source Beutler Lab
Gene Symbol Fbxo32
Ensembl Gene ENSMUSG00000022358
Gene Name F-box protein 32
Synonyms atrogin-1, ATROGIN1, MAFbx, 4833442G10Rik
MMRRC Submission 045920-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7868 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 58039275-58078288 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 58077986 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 8 (W8R)
Ref Sequence ENSEMBL: ENSMUSP00000022986 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022986]
AlphaFold Q9CPU7
Predicted Effect probably damaging
Transcript: ENSMUST00000022986
AA Change: W8R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022986
Gene: ENSMUSG00000022358
AA Change: W8R

DomainStartEndE-ValueType
Blast:FBOX 228 269 6e-16 BLAST
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933415A04Rik GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT 11: 43,478,257 (GRCm39) probably null Het
Acacb A G 5: 114,386,288 (GRCm39) E2274G probably benign Het
Adam7 A G 14: 68,770,090 (GRCm39) I21T possibly damaging Het
Aldh3b3 C T 19: 4,018,492 (GRCm39) R57* probably null Het
Arhgap22 T C 14: 33,086,473 (GRCm39) probably benign Het
B4galt5 G T 2: 167,143,340 (GRCm39) Y361* probably null Het
BC005537 C T 13: 24,987,382 (GRCm39) R7W possibly damaging Het
Bsn G T 9: 107,992,098 (GRCm39) A1218D possibly damaging Het
Ccdc141 T C 2: 76,938,756 (GRCm39) D283G probably damaging Het
Ccdc33 T A 9: 57,976,374 (GRCm39) I547F probably benign Het
Chdh A G 14: 29,753,288 (GRCm39) N66D probably benign Het
Ckap2l T A 2: 129,127,209 (GRCm39) Q323L probably damaging Het
Cpvl T A 6: 53,951,745 (GRCm39) I13F possibly damaging Het
Creb3l2 G A 6: 37,312,804 (GRCm39) P410L probably damaging Het
Dna2 T C 10: 62,805,643 (GRCm39) V960A probably benign Het
Dop1a G A 9: 86,384,037 (GRCm39) probably null Het
Dpysl5 A T 5: 30,902,760 (GRCm39) D64V probably damaging Het
Dysf A G 6: 84,091,081 (GRCm39) Q1041R probably benign Het
Efcab7 T C 4: 99,746,154 (GRCm39) V242A probably benign Het
Ehbp1 G A 11: 22,096,542 (GRCm39) R341* probably null Het
Eif1ad8 G T 12: 87,563,388 (GRCm39) probably benign Het
Fpgs T C 2: 32,573,472 (GRCm39) N455D probably damaging Het
Fsip1 G A 2: 117,966,967 (GRCm39) Q453* probably null Het
Gm8257 T A 14: 44,894,754 (GRCm39) E12V probably damaging Het
Kdm3a A T 6: 71,572,473 (GRCm39) D1029E probably benign Het
Lipo4 T G 19: 33,488,968 (GRCm39) Q205P possibly damaging Het
Lpar6 A T 14: 73,476,435 (GRCm39) N132I probably damaging Het
Lrp1b C T 2: 41,339,246 (GRCm39) G866S Het
Man2c1 T C 9: 57,045,270 (GRCm39) F460L probably damaging Het
Map3k7cl T C 16: 87,378,100 (GRCm39) V72A probably damaging Het
Map4k1 A T 7: 28,699,387 (GRCm39) probably null Het
Matn1 A G 4: 130,682,311 (GRCm39) E496G probably damaging Het
Mfsd2a A T 4: 122,850,648 (GRCm39) V76E possibly damaging Het
Mmut C T 17: 41,257,934 (GRCm39) R367C probably damaging Het
Mtpap A G 18: 4,380,673 (GRCm39) E117G probably damaging Het
Muc17 T A 5: 137,175,625 (GRCm39) N15I Het
Ndufa10 A G 1: 92,388,169 (GRCm39) Y275H probably damaging Het
Nlrc4 A T 17: 74,755,047 (GRCm39) H56Q possibly damaging Het
Nrde2 G A 12: 100,097,446 (GRCm39) R785C possibly damaging Het
Nsun4 C A 4: 115,891,329 (GRCm39) C350F probably benign Het
Or10x1 A G 1: 174,196,551 (GRCm39) T23A probably benign Het
Or51f23b A G 7: 102,402,812 (GRCm39) L108P possibly damaging Het
Or8g2 T A 9: 39,821,282 (GRCm39) F61Y probably benign Het
Or9s14 G A 1: 92,536,237 (GRCm39) G226D possibly damaging Het
Pdcd7 T A 9: 65,254,261 (GRCm39) C280S probably damaging Het
Peak1 G T 9: 56,167,754 (GRCm39) T58K probably damaging Het
Phactr2 T C 10: 13,108,353 (GRCm39) E573G probably damaging Het
Pramel27 A G 4: 143,578,154 (GRCm39) H138R possibly damaging Het
Ptprz1 G A 6: 23,000,963 (GRCm39) A1018T not run Het
Ralgapa1 G T 12: 55,659,423 (GRCm39) D2032E probably benign Het
Rapgef4 T A 2: 72,031,481 (GRCm39) N488K probably benign Het
Slc1a2 A G 2: 102,591,530 (GRCm39) D420G probably benign Het
Smyd5 T A 6: 85,421,297 (GRCm39) L337Q probably damaging Het
Tenm4 G A 7: 96,555,587 (GRCm39) R2764H possibly damaging Het
Tex35 A T 1: 156,926,908 (GRCm39) Y195* probably null Het
Tln2 T C 9: 67,255,508 (GRCm39) K690E probably damaging Het
Trpc4 A G 3: 54,209,707 (GRCm39) T691A probably benign Het
Tsr1 T A 11: 74,791,158 (GRCm39) F246I possibly damaging Het
Ttn ATATCTCTCCAGAGCCTCCCCTGGAGGAGTGGAGTATCTCTCCAGAGCCTCCCCTGGAGGAGTGGAGTATCTCTCCAGAGCCTCCCCTG ATATCTCTCCAGAGCCTCCCCTGGAGGAGTGGAGTATCTCTCCAGAGCCTCCCCTG 2: 76,746,150 (GRCm39) probably benign Het
Ubr4 A T 4: 139,187,344 (GRCm39) Y669F unknown Het
Uox A C 3: 146,316,029 (GRCm39) D12A probably benign Het
Wdr17 A G 8: 55,149,302 (GRCm39) probably null 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
R2315:Fbxo32 UTSW 15 58,071,431 (GRCm39) missense probably benign 0.28
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
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'- TGGCGACCTTTACCGAAATC -3'
(R):5'- AGCCCTCCACACTAGTTGAC -3'

Sequencing Primer
(F):5'- ATTCTGGCCCAGACCTGC -3'
(R):5'- ACACTAGTTGACCCACTCTTG -3'
Posted On 2019-12-20