Incidental Mutation 'R1166:Fbxo17'
ID101012
Institutional Source Beutler Lab
Gene Symbol Fbxo17
Ensembl Gene ENSMUSG00000030598
Gene NameF-box protein 17
SynonymsFbg4, Fbx17, FBXO26
MMRRC Submission 039239-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.114) question?
Stock #R1166 (G1)
Quality Score225
Status Not validated
Chromosome7
Chromosomal Location28716804-28738144 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 28733528 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 158 (V158E)
Ref Sequence ENSEMBL: ENSMUSP00000130422 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032818] [ENSMUST00000108278] [ENSMUST00000108279] [ENSMUST00000167118]
Predicted Effect probably damaging
Transcript: ENSMUST00000032818
AA Change: V158E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000032818
Gene: ENSMUSG00000030598
AA Change: V158E

DomainStartEndE-ValueType
FBOX 21 62 7.7e-6 SMART
low complexity region 83 92 N/A INTRINSIC
FBA 101 283 7.76e-96 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000108278
AA Change: V158E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103913
Gene: ENSMUSG00000030598
AA Change: V158E

DomainStartEndE-ValueType
FBOX 21 62 7.7e-6 SMART
low complexity region 83 92 N/A INTRINSIC
FBA 101 283 7.76e-96 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000108279
AA Change: V158E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103914
Gene: ENSMUSG00000030598
AA Change: V158E

DomainStartEndE-ValueType
FBOX 21 62 7.7e-6 SMART
low complexity region 83 92 N/A INTRINSIC
FBA 101 242 1.34e-49 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000167118
AA Change: V158E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000130422
Gene: ENSMUSG00000030598
AA Change: V158E

DomainStartEndE-ValueType
FBOX 21 62 7.7e-6 SMART
low complexity region 83 92 N/A INTRINSIC
FBA 101 283 7.76e-96 SMART
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.3%
  • 10x: 95.0%
  • 20x: 86.3%
Validation Efficiency 96% (43/45)
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 the F-box motif. 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 it contains an F-box domain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 T C 6: 128,570,917 K286R probably benign Het
Arhgef10l T C 4: 140,575,270 probably benign Het
Ccdc175 T G 12: 72,105,932 K733T probably damaging Het
Cenpn T G 8: 116,926,207 I39R probably damaging Het
Cfap53 A T 18: 74,300,180 Y112F possibly damaging Het
Cngb1 C A 8: 95,260,181 C361F probably damaging Het
Ctf2 T C 7: 127,719,513 T105A probably benign Het
Dnah7b A T 1: 46,325,810 T3584S probably damaging Het
Ebf3 C T 7: 137,313,167 probably benign Het
Ep300 A G 15: 81,630,064 probably benign Het
Fbxw24 T C 9: 109,606,998 E322G probably benign Het
Gm5698 G T 1: 30,977,285 D228E probably damaging Het
Gm884 A G 11: 103,615,383 S1920P probably benign Het
Hfm1 A T 5: 106,911,411 D248E probably benign Het
Insm2 T C 12: 55,600,496 S342P probably benign Het
Krt36 G A 11: 100,102,828 R395C probably benign Het
Lsm14b T A 2: 180,031,541 probably benign Het
Map1a A G 2: 121,300,260 E519G probably damaging Het
Mfsd14a T C 3: 116,633,894 probably benign Het
Mfsd4b5 T C 10: 39,970,423 Y387C probably damaging Het
Mybpc2 T C 7: 44,505,025 N1063D possibly damaging Het
Nlrp10 T A 7: 108,925,010 H421L probably damaging Het
Nup155 A T 15: 8,157,760 H1391L probably damaging Het
Olfr1254 A G 2: 89,789,331 V7A possibly damaging Het
Pacrg A T 17: 10,403,339 Y235* probably null Het
Pde4dip T A 3: 97,713,196 D1629V possibly damaging Het
Prl8a2 G T 13: 27,353,952 S204I possibly damaging Het
Sec24a A T 11: 51,733,467 M356K possibly damaging Het
Sh3tc2 A C 18: 61,991,176 S972R probably damaging Het
Shc2 C T 10: 79,621,112 V557M probably damaging Het
Slc2a9 A G 5: 38,382,041 probably null Het
Tcaf1 T C 6: 42,678,678 I455V probably benign Het
Umodl1 T G 17: 31,002,798 probably benign Het
Wdr27 T C 17: 14,892,471 T658A probably damaging Het
Zfp318 T C 17: 46,409,692 Y1119H possibly damaging Het
Zfp939 C A 7: 39,473,339 noncoding transcript Het
Other mutations in Fbxo17
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00492:Fbxo17 APN 7 28735341 missense probably damaging 1.00
IGL03306:Fbxo17 APN 7 28735357 missense probably damaging 1.00
R0141:Fbxo17 UTSW 7 28733491 missense possibly damaging 0.59
R0144:Fbxo17 UTSW 7 28735340 missense probably damaging 1.00
R0418:Fbxo17 UTSW 7 28733491 missense possibly damaging 0.59
R3691:Fbxo17 UTSW 7 28737462 missense probably damaging 0.99
R4688:Fbxo17 UTSW 7 28732554 missense probably benign
R4921:Fbxo17 UTSW 7 28732789 missense probably benign 0.14
R5691:Fbxo17 UTSW 7 28737472 missense probably damaging 1.00
R5712:Fbxo17 UTSW 7 28737472 missense probably damaging 1.00
R5749:Fbxo17 UTSW 7 28737472 missense probably damaging 1.00
R5750:Fbxo17 UTSW 7 28737472 missense probably damaging 1.00
Predicted Primers
Posted On2014-01-15