Incidental Mutation 'IGL02721:Fbxo32'
ID 305024
Institutional Source Australian Phenomics Network (link to record)
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 # IGL02721
Quality Score
Status
Chromosome 15
Chromosomal Location 58039275-58078288 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 58046358 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 284 (I284T)
Ref Sequence ENSEMBL: ENSMUSP00000022986 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022986]
AlphaFold Q9CPU7
Predicted Effect possibly damaging
Transcript: ENSMUST00000022986
AA Change: I284T

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000022986
Gene: ENSMUSG00000022358
AA Change: I284T

DomainStartEndE-ValueType
Blast:FBOX 228 269 6e-16 BLAST
Coding Region Coverage
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930563M21Rik T A 9: 55,888,124 (GRCm39) I398L probably benign Het
4931414P19Rik A G 14: 54,823,202 (GRCm39) S332P probably damaging Het
Abca7 T C 10: 79,849,469 (GRCm39) S1877P possibly damaging Het
Adora2b G T 11: 62,155,931 (GRCm39) A127S probably damaging Het
Ahnak A G 19: 8,987,071 (GRCm39) K2785R probably benign Het
Anapc2 G A 2: 25,164,680 (GRCm39) W21* probably null Het
Atp7b A G 8: 22,512,493 (GRCm39) S457P probably benign Het
Catsperb A G 12: 101,591,556 (GRCm39) Q1046R probably null Het
Comp A T 8: 70,828,731 (GRCm39) N188Y probably damaging Het
Crnkl1 A T 2: 145,765,801 (GRCm39) I423K possibly damaging Het
Crtap A T 9: 114,210,707 (GRCm39) V289E probably damaging Het
Ctnna2 T C 6: 76,958,852 (GRCm39) N454S probably damaging Het
Dnah5 A T 15: 28,234,389 (GRCm39) probably null Het
Dstyk T G 1: 132,377,054 (GRCm39) V220G probably benign Het
E230025N22Rik C T 18: 36,828,664 (GRCm39) V5M probably damaging Het
Fam111a T G 19: 12,564,336 (GRCm39) N28K probably benign Het
Fgb A C 3: 82,950,674 (GRCm39) V360G possibly damaging Het
Gm3404 A T 5: 146,463,738 (GRCm39) R128* probably null Het
Hal G T 10: 93,343,360 (GRCm39) G535* probably null Het
Ifna1 A G 4: 88,768,523 (GRCm39) D67G probably benign Het
Igsf5 T A 16: 96,192,222 (GRCm39) S274T probably damaging Het
Kdm7a C T 6: 39,150,371 (GRCm39) A134T possibly damaging Het
Klhl25 G T 7: 75,516,648 (GRCm39) W518L probably damaging Het
Map1a A T 2: 121,134,518 (GRCm39) D1778V probably benign Het
Nif3l1 A G 1: 58,497,008 (GRCm39) D311G probably damaging Het
Numa1 A G 7: 101,649,118 (GRCm39) T950A probably benign Het
Nup54 A T 5: 92,565,716 (GRCm39) I406N possibly damaging Het
Or10ab5 G T 7: 108,245,582 (GRCm39) S67* probably null Het
Or2y1d T A 11: 49,321,468 (GRCm39) L55* probably null Het
Or6c210 C T 10: 129,495,824 (GRCm39) P50S probably benign Het
Or6c211 A T 10: 129,505,992 (GRCm39) I132N probably benign Het
Pcdhb18 T A 18: 37,623,084 (GRCm39) M138K probably benign Het
Pik3c2g A G 6: 139,682,699 (GRCm39) T27A probably benign Het
Plekhb2 A G 1: 34,908,445 (GRCm39) N163S probably benign Het
Ros1 G A 10: 52,048,927 (GRCm39) probably benign Het
Sh3gl1 A G 17: 56,324,577 (GRCm39) L357P possibly damaging Het
Skint5 T A 4: 113,799,746 (GRCm39) D141V probably damaging Het
Slc10a5 A G 3: 10,399,595 (GRCm39) V355A probably benign Het
Speer1c T C 5: 10,293,883 (GRCm39) K106E probably damaging Het
Ssh2 G T 11: 77,345,551 (GRCm39) G1179* probably null Het
Syde2 A G 3: 145,707,759 (GRCm39) N566S probably damaging Het
Sytl1 T C 4: 132,986,189 (GRCm39) R149G probably benign Het
Tnpo2 A G 8: 85,781,319 (GRCm39) probably null Het
Top2b T C 14: 16,409,236 (GRCm38) L793P probably damaging Het
U2surp T A 9: 95,356,488 (GRCm39) E789D probably benign Het
Vps13c G A 9: 67,871,431 (GRCm39) probably benign Het
Zbtb34 C T 2: 33,301,270 (GRCm39) G424R probably damaging Het
Zfhx4 A G 3: 5,308,367 (GRCm39) D531G possibly damaging Het
Zfp787 C T 7: 6,135,463 (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
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
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
Posted On 2015-04-16