Incidental Mutation 'IGL00503:Fbxo8'
ID332490
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fbxo8
Ensembl Gene ENSMUSG00000038206
Gene NameF-box protein 8
SynonymsFbx8
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00503
Quality Score
Status
Chromosome8
Chromosomal Location56551090-56593939 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 56588023 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 158 (M158K)
Ref Sequence ENSEMBL: ENSMUSP00000037544 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040218] [ENSMUST00000110322]
Predicted Effect probably benign
Transcript: ENSMUST00000040218
AA Change: M158K

PolyPhen 2 Score 0.204 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000037544
Gene: ENSMUSG00000038206
AA Change: M158K

DomainStartEndE-ValueType
Pfam:F-box-like 71 114 1.3e-8 PFAM
Sec7 132 316 2.52e-70 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000110322
SMART Domains Protein: ENSMUSP00000105951
Gene: ENSMUSG00000038206

DomainStartEndE-ValueType
Pfam:F-box-like 71 114 1.2e-9 PFAM
Blast:Sec7 132 159 8e-6 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211294
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. It contains a C-terminal amino acid sequence that bears a significant similarity with a portion of yeast Sec7p, a critical regulator of vesicular protein transport. This human protein may interact with ADP-ribosylation factor(s)(ARFs) and exhibit ARF-GEF (guanine nucleotide exchange factor) activity. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930546C10Rik T A 18: 68,950,102 R14* probably null Het
Abcb5 A G 12: 118,907,601 S688P probably benign Het
Adgb T A 10: 10,406,099 Q597L possibly damaging Het
Aga G A 8: 53,518,921 V210I probably benign Het
Akap17b A G X: 36,612,310 S515P probably damaging Het
Brinp3 A T 1: 146,901,167 T451S probably benign Het
Cabcoco1 G T 10: 68,541,805 T18N possibly damaging Het
Ccar2 C T 14: 70,142,531 W402* probably null Het
Ccdc15 G A 9: 37,320,473 A185V probably damaging Het
Ccdc50 G A 16: 27,409,352 E90K probably damaging Het
Cckbr G A 7: 105,434,242 M217I probably benign Het
Clec16a A G 16: 10,694,649 T398A possibly damaging Het
Col4a1 A G 8: 11,240,076 probably benign Het
Cyp4v3 T A 8: 45,307,021 E498V probably damaging Het
Dgke T C 11: 89,041,501 I488V probably benign Het
Dip2c A G 13: 9,567,898 D443G probably damaging Het
Edem3 T G 1: 151,818,513 S852A probably benign Het
Galnt15 C T 14: 32,052,356 T359M possibly damaging Het
Herc6 A G 6: 57,607,145 N330D probably benign Het
Kdf1 T C 4: 133,528,157 S62P probably damaging Het
Larp4 T A 15: 99,987,421 I51N probably damaging Het
Mfsd6l T A 11: 68,556,473 I50N probably damaging Het
Mroh2b A G 15: 4,899,197 Y4C probably benign Het
Muc3 G T 5: 137,137,123 Y343* probably null Het
Myom2 A C 8: 15,114,289 probably null Het
Npat A T 9: 53,572,649 probably benign Het
Pamr1 A T 2: 102,642,272 I639F possibly damaging Het
Pcsk2 A G 2: 143,793,239 S345G probably damaging Het
Pcyt1a A G 16: 32,467,101 T197A probably damaging Het
Pkd1 A G 17: 24,565,427 M316V probably benign Het
Plekhs1 T C 19: 56,464,599 probably null Het
Sema3e G T 5: 14,240,572 R557M probably damaging Het
Sgsm1 T C 5: 113,276,142 N154S probably benign Het
Smg1 A T 7: 118,185,483 probably benign Het
Sp110 A C 1: 85,577,329 F434C probably benign Het
Spats1 A T 17: 45,454,085 probably null Het
Tnfaip6 T G 2: 52,055,847 V235G probably damaging Het
Trim34a A T 7: 104,261,331 T447S probably damaging Het
Tut1 G A 19: 8,959,096 A95T probably damaging Het
Urgcp C T 11: 5,716,448 R630Q possibly damaging Het
Vmn1r125 G T 7: 21,272,181 M1I probably null Het
Vmn2r99 A G 17: 19,378,854 T267A probably benign Het
Wdr5 A G 2: 27,520,867 K162E probably benign Het
Zscan26 T G 13: 21,445,101 K285Q probably damaging Het
Other mutations in Fbxo8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02699:Fbxo8 APN 8 56590188 missense possibly damaging 0.94
R0240:Fbxo8 UTSW 8 56590261 intron probably benign
R0295:Fbxo8 UTSW 8 56590074 missense probably benign 0.01
R0310:Fbxo8 UTSW 8 56590097 missense probably damaging 1.00
R0732:Fbxo8 UTSW 8 56591529 missense probably damaging 1.00
R3895:Fbxo8 UTSW 8 56591521 missense probably damaging 1.00
R4258:Fbxo8 UTSW 8 56588041 missense probably benign 0.05
R5162:Fbxo8 UTSW 8 56569319 missense probably damaging 1.00
R5687:Fbxo8 UTSW 8 56591517 missense probably damaging 1.00
R6087:Fbxo8 UTSW 8 56569318 missense probably damaging 1.00
R6297:Fbxo8 UTSW 8 56569288 missense probably damaging 1.00
R7422:Fbxo8 UTSW 8 56569282 critical splice acceptor site probably null
R7689:Fbxo8 UTSW 8 56588085 missense probably benign 0.27
R8282:Fbxo8 UTSW 8 56591520 missense possibly damaging 0.94
Posted On2015-08-05