Incidental Mutation 'R3895:Fbxo8'
ID 310499
Institutional Source Beutler Lab
Gene Symbol Fbxo8
Ensembl Gene ENSMUSG00000038206
Gene Name F-box protein 8
Synonyms Fbx8
MMRRC Submission 040806-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3895 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 57004189-57046974 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 57044556 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 286 (R286S)
Ref Sequence ENSEMBL: ENSMUSP00000037544 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040218] [ENSMUST00000110322]
AlphaFold Q9QZN3
Predicted Effect probably damaging
Transcript: ENSMUST00000040218
AA Change: R286S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000037544
Gene: ENSMUSG00000038206
AA Change: R286S

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
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 96% (45/47)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acoxl T C 2: 127,814,445 (GRCm39) probably benign Het
C6 T C 15: 4,837,952 (GRCm39) V854A probably benign Het
Ccnd1 T C 7: 144,491,631 (GRCm39) E136G probably damaging Het
CK137956 A T 4: 127,840,441 (GRCm39) F422I probably benign Het
Csta1 T C 16: 35,951,402 (GRCm39) T7A probably benign Het
Dock8 A G 19: 25,028,865 (GRCm39) E23G probably benign Het
Gm12258 T G 11: 58,749,375 (GRCm39) Y183* probably null Het
Gvin-ps6 T A 7: 106,022,621 (GRCm39) H127L probably damaging Het
Hectd3 A G 4: 116,853,286 (GRCm39) D171G probably damaging Het
Hoxd11 C T 2: 74,513,136 (GRCm39) R134W probably damaging Het
Ighg2c T C 12: 113,251,278 (GRCm39) T246A unknown Het
Ints6 T C 14: 62,934,060 (GRCm39) I816V probably damaging Het
Lrp4 G A 2: 91,304,294 (GRCm39) G158S probably damaging Het
Mast1 G A 8: 85,662,352 (GRCm39) P52L probably damaging Het
Med13l A G 5: 118,899,388 (GRCm39) D2148G probably null Het
Med24 A G 11: 98,597,214 (GRCm39) S889P probably benign Het
Mgam T A 6: 40,736,054 (GRCm39) M851K probably damaging Het
Mkln1 T A 6: 31,484,602 (GRCm39) L710H probably damaging Het
Morf4l1 A T 9: 89,976,501 (GRCm39) F276I possibly damaging Het
Mslnl G A 17: 25,961,908 (GRCm39) V128M probably damaging Het
Myt1 T A 2: 181,461,863 (GRCm39) S574R probably damaging Het
Nol11 C A 11: 107,059,173 (GRCm39) V644F probably damaging Het
Nusap1 C A 2: 119,458,172 (GRCm39) Q103K possibly damaging Het
Ovgp1 A G 3: 105,893,912 (GRCm39) probably benign Het
Pcdh9 C T 14: 94,124,974 (GRCm39) V399M probably damaging Het
Plekhh1 T C 12: 79,102,006 (GRCm39) S359P probably benign Het
Prg4 G C 1: 150,330,510 (GRCm39) probably benign Het
Ptpn14 C T 1: 189,582,743 (GRCm39) A530V probably benign Het
Rho A G 6: 115,910,863 (GRCm39) Y136C probably damaging Het
Rps3 C T 7: 99,129,103 (GRCm39) R173H probably benign Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Sall2 T C 14: 52,551,504 (GRCm39) N564D probably damaging Het
Sart3 G A 5: 113,890,488 (GRCm39) R452* probably null Het
Sbf2 T C 7: 110,046,298 (GRCm39) I300V probably damaging Het
Sgo2b A T 8: 64,381,767 (GRCm39) V355E possibly damaging Het
Slc22a5 T C 11: 53,756,651 (GRCm39) K553R possibly damaging Het
Syne1 A G 10: 5,355,456 (GRCm39) V375A probably damaging Het
Trafd1 T C 5: 121,516,804 (GRCm39) E28G probably benign Het
Tsc2 T C 17: 24,818,786 (GRCm39) K1292R probably damaging Het
Twnk A G 19: 44,995,890 (GRCm39) T108A probably damaging Het
Unc13c A T 9: 73,840,805 (GRCm39) H15Q probably benign Het
Vps16 T C 2: 130,280,596 (GRCm39) S208P possibly damaging Het
Other mutations in Fbxo8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00503:Fbxo8 APN 8 57,041,058 (GRCm39) missense probably benign 0.20
IGL02699:Fbxo8 APN 8 57,043,223 (GRCm39) missense possibly damaging 0.94
R0240:Fbxo8 UTSW 8 57,043,296 (GRCm39) intron probably benign
R0295:Fbxo8 UTSW 8 57,043,109 (GRCm39) missense probably benign 0.01
R0310:Fbxo8 UTSW 8 57,043,132 (GRCm39) missense probably damaging 1.00
R0732:Fbxo8 UTSW 8 57,044,564 (GRCm39) missense probably damaging 1.00
R4258:Fbxo8 UTSW 8 57,041,076 (GRCm39) missense probably benign 0.05
R5162:Fbxo8 UTSW 8 57,022,354 (GRCm39) missense probably damaging 1.00
R5687:Fbxo8 UTSW 8 57,044,552 (GRCm39) missense probably damaging 1.00
R6087:Fbxo8 UTSW 8 57,022,353 (GRCm39) missense probably damaging 1.00
R6297:Fbxo8 UTSW 8 57,022,323 (GRCm39) missense probably damaging 1.00
R7422:Fbxo8 UTSW 8 57,022,317 (GRCm39) critical splice acceptor site probably null
R7689:Fbxo8 UTSW 8 57,041,120 (GRCm39) missense probably benign 0.27
R8282:Fbxo8 UTSW 8 57,044,555 (GRCm39) missense possibly damaging 0.94
Predicted Primers PCR Primer
(F):5'- CAGAAGCTGAAAGAGTCACCTG -3'
(R):5'- TGCTGCCACTAAGTCTGTCC -3'

Sequencing Primer
(F):5'- GTCACCTGGAAGCAAAGCCTAG -3'
(R):5'- CACTAAGTCTGTCCCTGGGTAG -3'
Posted On 2015-04-17