Incidental Mutation 'R6087:Fbxo8'
ID 484613
Institutional Source Beutler Lab
Gene Symbol Fbxo8
Ensembl Gene ENSMUSG00000038206
Gene Name F-box protein 8
Synonyms Fbx8
MMRRC Submission 044244-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6087 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 57004189-57046974 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 57022353 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 122 (Y122N)
Ref Sequence ENSEMBL: ENSMUSP00000105951 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040218] [ENSMUST00000110322] [ENSMUST00000210863]
AlphaFold Q9QZN3
Predicted Effect probably damaging
Transcript: ENSMUST00000040218
AA Change: Y122N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000037544
Gene: ENSMUSG00000038206
AA Change: Y122N

DomainStartEndE-ValueType
Pfam:F-box-like 71 114 1.3e-8 PFAM
Sec7 132 316 2.52e-70 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000110322
AA Change: Y122N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105951
Gene: ENSMUSG00000038206
AA Change: Y122N

DomainStartEndE-ValueType
Pfam:F-box-like 71 114 1.2e-9 PFAM
Blast:Sec7 132 159 8e-6 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156840
Predicted Effect probably benign
Transcript: ENSMUST00000210863
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.2%
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310003L06Rik A G 5: 88,119,621 (GRCm39) K126R possibly damaging Het
Adam7 A T 14: 68,748,206 (GRCm39) C548S probably damaging Het
Adar C A 3: 89,652,897 (GRCm39) H260N probably benign Het
Ak9 A G 10: 41,258,828 (GRCm39) E775G probably benign Het
Arhgap35 T C 7: 16,297,568 (GRCm39) Y499C probably damaging Het
Bank1 A G 3: 135,772,190 (GRCm39) L480P probably damaging Het
Cep135 G T 5: 76,763,638 (GRCm39) probably null Het
Cnga1 G T 5: 72,768,155 (GRCm39) A177E probably damaging Het
Cubn T A 2: 13,432,658 (GRCm39) D1221V probably damaging Het
Cyp2d40 T C 15: 82,648,205 (GRCm39) Y36C possibly damaging Het
Dock8 C A 19: 25,138,438 (GRCm39) N1254K probably benign Het
Elapor2 T C 5: 9,449,255 (GRCm39) S128P probably damaging Het
Fam13b C T 18: 34,620,192 (GRCm39) V231I possibly damaging Het
Fmo2 T A 1: 162,708,002 (GRCm39) I378F probably benign Het
Golga3 A T 5: 110,352,812 (GRCm39) Q861L probably damaging Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Ighv3-8 G T 12: 114,286,000 (GRCm39) A114E probably damaging Het
Itga3 C T 11: 94,943,269 (GRCm39) probably null Het
Kank1 G A 19: 25,387,088 (GRCm39) V254I probably benign Het
Lipo5 A T 19: 33,443,375 (GRCm39) I147K unknown Het
Lrfn2 A G 17: 49,378,154 (GRCm39) S412G probably benign Het
Lrrn3 T C 12: 41,503,534 (GRCm39) N261S possibly damaging Het
Mical2 C T 7: 111,917,692 (GRCm39) Q350* probably null Het
Nras T C 3: 102,967,637 (GRCm39) F78L probably damaging Het
Nudt9 A G 5: 104,198,679 (GRCm39) I65V probably benign Het
Or10ag59 A G 2: 87,406,259 (GRCm39) D277G probably benign Het
Or4f17-ps1 A T 2: 111,358,526 (GRCm39) E289V possibly damaging Het
Oscar G A 7: 3,614,311 (GRCm39) P143S probably benign Het
Pla2g4d C T 2: 120,100,487 (GRCm39) G615D probably damaging Het
Plekha1 T G 7: 130,502,301 (GRCm39) S175A probably benign Het
Psg27 T C 7: 18,290,869 (GRCm39) K445E probably benign Het
Rad51c A G 11: 87,271,705 (GRCm39) Y318H probably benign Het
Ret G T 6: 118,153,252 (GRCm39) T472K possibly damaging Het
Tarbp1 T C 8: 127,155,709 (GRCm39) D1343G probably benign Het
Top2b C A 14: 16,409,864 (GRCm38) R844S probably benign Het
Vmn1r171 T A 7: 23,332,429 (GRCm39) M218K probably damaging Het
Vmn2r89 A T 14: 51,695,033 (GRCm39) probably null Het
Zc3h13 T A 14: 75,568,149 (GRCm39) D1147E probably damaging Het
Zgrf1 T A 3: 127,409,135 (GRCm39) L1703H probably 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
R3895:Fbxo8 UTSW 8 57,044,556 (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
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'- GCGAGGTCACAAGACTCTTG -3'
(R):5'- AAAGGTTACACTATTAGAAGGCGGC -3'

Sequencing Primer
(F):5'- ACCTTCACAAGATTCCAGTTTTAG -3'
(R):5'- GCAGCAGGATCATACGCATGC -3'
Posted On 2017-08-16