Incidental Mutation 'R2160:Fbxw8'
ID 235097
Institutional Source Beutler Lab
Gene Symbol Fbxw8
Ensembl Gene ENSMUSG00000032867
Gene Name F-box and WD-40 domain protein 8
Synonyms 4930438M06Rik, Fbx29, FBXO29, FBW6, FBW8
MMRRC Submission 040163-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.546) question?
Stock # R2160 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 118203046-118293523 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 118263053 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 209 (P209S)
Ref Sequence ENSEMBL: ENSMUSP00000047012 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049474]
AlphaFold Q8BIA4
Predicted Effect probably damaging
Transcript: ENSMUST00000049474
AA Change: P209S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000047012
Gene: ENSMUSG00000032867
AA Change: P209S

DomainStartEndE-ValueType
low complexity region 16 39 N/A INTRINSIC
low complexity region 51 75 N/A INTRINSIC
low complexity region 76 91 N/A INTRINSIC
FBOX 119 159 5e-5 SMART
WD40 198 236 6.16e0 SMART
WD40 248 285 7.1e1 SMART
WD40 289 327 7.36e1 SMART
Blast:WD40 373 418 2e-8 BLAST
WD40 421 461 1.6e0 SMART
WD40 464 501 2.15e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201545
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
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, members of which are characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into three 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 contains a WD-40 domain, in addition to an F-box motif, so it belongs to the Fbw class. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele display partial late embryonic lethality with embryonic growth retardation and abnormal placental morphology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bpifb9b A G 2: 154,161,595 (GRCm39) N576D possibly damaging Het
Braf C T 6: 39,639,007 (GRCm39) C248Y probably damaging Het
Carmil2 A G 8: 106,423,680 (GRCm39) E1218G possibly damaging Het
Cntnap4 G T 8: 113,484,203 (GRCm39) G419C probably damaging Het
Csmd3 CCTTTGCGCTT CCTT 15: 47,604,632 (GRCm39) probably null Het
Dnah9 C T 11: 66,008,309 (GRCm39) D839N probably damaging Het
Evc2 A G 5: 37,537,862 (GRCm39) T517A possibly damaging Het
Gcm1 A G 9: 77,968,662 (GRCm39) K121E probably benign Het
Gprc6a CAAA CA 10: 51,491,776 (GRCm39) probably null Het
Herc2 A G 7: 55,862,670 (GRCm39) D4077G probably benign Het
Inpp4b T A 8: 82,848,004 (GRCm39) L937* probably null Het
Ipcef1 A T 10: 6,840,650 (GRCm39) I349N probably damaging Het
Ipmk A G 10: 71,217,256 (GRCm39) T267A probably benign Het
Jph3 G T 8: 122,479,970 (GRCm39) R216L possibly damaging Het
Kctd16 A G 18: 40,392,138 (GRCm39) E242G probably damaging Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Krt76 A G 15: 101,796,820 (GRCm39) Y360H probably damaging Het
Lctl A G 9: 64,025,049 (GRCm39) I12V probably benign Het
Lrig3 T C 10: 125,833,565 (GRCm39) V347A possibly damaging Het
Lrrk2 C T 15: 91,680,263 (GRCm39) S2058F probably damaging Het
Mark2 G C 19: 7,260,112 (GRCm39) S111C probably damaging Het
Mon2 T A 10: 122,911,834 (GRCm39) K12* probably null Het
Nup58 A G 14: 60,476,957 (GRCm39) V238A probably benign Het
Pak5 T C 2: 135,940,302 (GRCm39) D504G probably benign Het
Pla2g4e T C 2: 120,015,687 (GRCm39) S286G probably benign Het
Ppfia4 A T 1: 134,241,461 (GRCm39) V498D probably benign Het
Ppfibp1 A G 6: 146,928,951 (GRCm39) E846G probably damaging Het
Ppp3ca G A 3: 136,583,391 (GRCm39) C166Y probably damaging Het
Prpf3 T C 3: 95,752,542 (GRCm39) K244E probably benign Het
Pzp A G 6: 128,502,239 (GRCm39) S37P probably damaging Het
Rab11fip3 G A 17: 26,288,028 (GRCm39) H42Y probably benign Het
Sprn C A 7: 139,733,419 (GRCm39) probably benign Het
Tectb C G 19: 55,169,431 (GRCm39) probably benign Het
Thap12 A G 7: 98,359,333 (GRCm39) S71G probably damaging Het
Vmn1r7 A G 6: 57,001,879 (GRCm39) F127S probably damaging Het
Vmn2r54 C T 7: 12,349,420 (GRCm39) V721I probably benign Het
Vmn2r56 A G 7: 12,428,146 (GRCm39) F707L probably benign Het
Zfp976 C T 7: 42,263,354 (GRCm39) S161N probably benign Het
Other mutations in Fbxw8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00272:Fbxw8 APN 5 118,206,162 (GRCm39) missense probably benign 0.00
IGL00435:Fbxw8 APN 5 118,206,202 (GRCm39) missense probably benign 0.01
IGL00674:Fbxw8 APN 5 118,233,658 (GRCm39) missense possibly damaging 0.94
IGL01306:Fbxw8 APN 5 118,251,785 (GRCm39) missense possibly damaging 0.88
IGL02389:Fbxw8 APN 5 118,267,020 (GRCm39) missense possibly damaging 0.57
IGL02438:Fbxw8 APN 5 118,233,758 (GRCm39) missense probably benign 0.09
IGL02553:Fbxw8 APN 5 118,204,125 (GRCm39) unclassified probably benign
IGL02752:Fbxw8 APN 5 118,280,815 (GRCm39) missense probably damaging 1.00
IGL02975:Fbxw8 APN 5 118,215,760 (GRCm39) missense probably benign 0.02
IGL03177:Fbxw8 APN 5 118,267,045 (GRCm39) splice site probably benign
IGL03333:Fbxw8 APN 5 118,233,660 (GRCm39) missense possibly damaging 0.94
IGL03407:Fbxw8 APN 5 118,280,741 (GRCm39) missense probably damaging 1.00
ANU23:Fbxw8 UTSW 5 118,251,785 (GRCm39) missense possibly damaging 0.88
R0135:Fbxw8 UTSW 5 118,208,552 (GRCm39) missense probably damaging 1.00
R0760:Fbxw8 UTSW 5 118,203,966 (GRCm39) splice site probably null
R1115:Fbxw8 UTSW 5 118,215,636 (GRCm39) splice site probably benign
R1498:Fbxw8 UTSW 5 118,203,850 (GRCm39) unclassified probably benign
R1689:Fbxw8 UTSW 5 118,215,682 (GRCm39) missense probably damaging 0.97
R1897:Fbxw8 UTSW 5 118,266,941 (GRCm39) missense probably benign 0.16
R2345:Fbxw8 UTSW 5 118,203,872 (GRCm39) unclassified probably benign
R3743:Fbxw8 UTSW 5 118,251,704 (GRCm39) missense probably damaging 1.00
R3935:Fbxw8 UTSW 5 118,233,783 (GRCm39) missense probably benign 0.38
R4910:Fbxw8 UTSW 5 118,263,092 (GRCm39) splice site probably null
R5220:Fbxw8 UTSW 5 118,233,776 (GRCm39) missense possibly damaging 0.69
R5628:Fbxw8 UTSW 5 118,230,622 (GRCm39) missense probably damaging 1.00
R6161:Fbxw8 UTSW 5 118,230,740 (GRCm39) missense possibly damaging 0.94
R6184:Fbxw8 UTSW 5 118,251,814 (GRCm39) missense probably damaging 1.00
R6582:Fbxw8 UTSW 5 118,263,028 (GRCm39) missense probably benign 0.28
R6617:Fbxw8 UTSW 5 118,280,731 (GRCm39) critical splice donor site probably null
R6785:Fbxw8 UTSW 5 118,230,754 (GRCm39) missense probably damaging 1.00
R7363:Fbxw8 UTSW 5 118,263,057 (GRCm39) missense probably damaging 0.97
R7395:Fbxw8 UTSW 5 118,206,280 (GRCm39) missense probably damaging 1.00
R7674:Fbxw8 UTSW 5 118,263,036 (GRCm39) nonsense probably null
R8428:Fbxw8 UTSW 5 118,215,763 (GRCm39) missense probably benign 0.02
R9161:Fbxw8 UTSW 5 118,251,727 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GGGGTGAAGACTTCAAACCG -3'
(R):5'- GACCACACTGCCTCTGGTTTAG -3'

Sequencing Primer
(F):5'- ACTTCAAACCGGAGAGTTTAGC -3'
(R):5'- AGGCTCCCTGTTTTATCCTTCTG -3'
Posted On 2014-10-01