Incidental Mutation 'R6297:Fbxo8'
ID 508844
Institutional Source Beutler Lab
Gene Symbol Fbxo8
Ensembl Gene ENSMUSG00000038206
Gene Name F-box protein 8
Synonyms Fbx8
MMRRC Submission 044464-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6297 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 57004189-57046974 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 57022323 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 112 (C112S)
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: C112S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000037544
Gene: ENSMUSG00000038206
AA Change: C112S

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: C112S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105951
Gene: ENSMUSG00000038206
AA Change: C112S

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency 98% (45/46)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 T C 3: 121,926,179 (GRCm39) V1205A probably benign Het
Adgra3 G A 5: 50,118,189 (GRCm39) P1120S probably benign Het
Ate1 A G 7: 130,105,570 (GRCm39) V316A probably damaging Het
Bpifa1 A G 2: 153,986,180 (GRCm39) I102V probably benign Het
Catsperb A G 12: 101,557,655 (GRCm39) probably null Het
Ccdc47 T C 11: 106,094,427 (GRCm39) Y324C probably damaging Het
Cdh22 T C 2: 164,985,564 (GRCm39) K341E possibly damaging Het
Cenpb A G 2: 131,020,289 (GRCm39) probably benign Het
Dgkd A G 1: 87,853,866 (GRCm39) I570V possibly damaging Het
Dhx32 A T 7: 133,344,529 (GRCm39) Y27N probably damaging Het
Dnah10 A G 5: 124,852,144 (GRCm39) D1824G possibly damaging Het
Fndc3a T C 14: 72,800,980 (GRCm39) D590G probably damaging Het
Gm19965 T A 1: 116,750,410 (GRCm39) I697N possibly damaging Het
Greb1l G A 18: 10,469,494 (GRCm39) D170N probably damaging Het
Haus5 C T 7: 30,358,401 (GRCm39) W298* probably null Het
Igfn1 A T 1: 135,892,399 (GRCm39) probably null Het
Ighg2b T C 12: 113,270,512 (GRCm39) E206G unknown Het
Ints15 A T 5: 143,293,787 (GRCm39) L230Q possibly damaging Het
Lman2 T C 13: 55,496,244 (GRCm39) N267S probably damaging Het
Lrfn5 A T 12: 61,890,348 (GRCm39) I546F probably benign Het
Lrrc4c T C 2: 97,459,964 (GRCm39) S197P probably damaging Het
Mbtd1 C T 11: 93,823,058 (GRCm39) H493Y possibly damaging Het
Mdga2 A G 12: 66,553,027 (GRCm39) Y793H probably damaging Het
Mdn1 C T 4: 32,730,054 (GRCm39) R2799* probably null Het
Mup13 T A 4: 61,181,634 (GRCm39) I148F probably benign Het
Or2aj5 A C 16: 19,424,680 (GRCm39) V246G possibly damaging Het
Or5m10 A G 2: 85,717,159 (GRCm39) N5S probably benign Het
Or8g53 A T 9: 39,683,522 (GRCm39) D191E possibly damaging Het
Pdgfra A G 5: 75,334,135 (GRCm39) K403E possibly damaging Het
Pigz A T 16: 31,763,755 (GRCm39) Y271F probably damaging Het
Plekhg4 T C 8: 106,104,472 (GRCm39) L517P probably damaging Het
Rnf20 T C 4: 49,642,132 (GRCm39) L232P probably damaging Het
Rpa3 C A 6: 8,256,767 (GRCm39) G71* probably null Het
Rsf1 GCG GCGACGGCGTCG 7: 97,229,114 (GRCm39) probably benign Het
Rubcnl A G 14: 75,287,584 (GRCm39) T623A probably benign Het
Sltm A G 9: 70,488,641 (GRCm39) D597G probably damaging Het
Stpg2 T C 3: 139,407,432 (GRCm39) V528A possibly damaging Het
Supt6 C T 11: 78,116,885 (GRCm39) R589Q possibly damaging Het
Tas1r2 T A 4: 139,389,361 (GRCm39) M419K possibly damaging Het
Txndc16 T C 14: 45,389,243 (GRCm39) T486A probably benign Het
Vamp9 A G 5: 100,089,092 (GRCm39) Y119C probably damaging Het
Vmn1r185 A G 7: 26,311,046 (GRCm39) V153A probably benign Het
Vmn2r48 T C 7: 9,668,807 (GRCm39) N548D probably damaging Het
Washc5 A G 15: 59,215,895 (GRCm39) I378T possibly damaging Het
Wdr37 A G 13: 8,892,764 (GRCm39) probably null Het
Xrn2 G A 2: 146,868,490 (GRCm39) R181H probably damaging Het
Ylpm1 C G 12: 85,062,051 (GRCm39) P651A unknown 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
R6087:Fbxo8 UTSW 8 57,022,353 (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'- AAAGCGAGGTCACAAGACTC -3'
(R):5'- TACACTATTAGAAGGCGGCAGC -3'

Sequencing Primer
(F):5'- GATAGTGTTTGGACAGCC -3'
(R):5'- GCAGCAGGATCATACGCATGC -3'
Posted On 2018-04-02