Incidental Mutation 'IGL03333:Fbxw8'
ID416941
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fbxw8
Ensembl Gene ENSMUSG00000032867
Gene NameF-box and WD-40 domain protein 8
SynonymsFbx29, FBW6, FBXO29, 4930438M06Rik, FBW8
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.482) question?
Stock #IGL03333
Quality Score
Status
Chromosome5
Chromosomal Location118064965-118155464 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 118095595 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Valine at position 324 (M324V)
Ref Sequence ENSEMBL: ENSMUSP00000047012 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049474]
Predicted Effect possibly damaging
Transcript: ENSMUST00000049474
AA Change: M324V

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000047012
Gene: ENSMUSG00000032867
AA Change: M324V

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
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap39 T C 15: 76,726,732 M893V probably benign Het
Ccdc185 C A 1: 182,748,833 G97V probably damaging Het
Cep170 T C 1: 176,769,526 T422A possibly damaging Het
Ckap2l A C 2: 129,296,308 probably null Het
Cpa3 A G 3: 20,215,828 Y411H possibly damaging Het
Dnah2 C A 11: 69,495,123 R1011L probably damaging Het
Efnb2 T A 8: 8,639,275 K30* probably null Het
Ep400 C T 5: 110,703,566 R1350H unknown Het
Epha6 T C 16: 59,682,688 D952G probably damaging Het
Exoc7 C A 11: 116,301,161 V195L probably benign Het
Fchsd2 T C 7: 101,198,496 S198P probably damaging Het
Gcdh T C 8: 84,891,071 T202A probably benign Het
Gm6619 G A 6: 131,490,508 probably benign Het
Itpr1 A T 6: 108,380,910 probably benign Het
Kif2c A C 4: 117,180,636 V31G possibly damaging Het
Kpna7 T C 5: 145,005,955 I74V possibly damaging Het
Lvrn G A 18: 46,864,664 probably benign Het
Man2b2 T A 5: 36,816,139 I499F probably damaging Het
Mmd2 G T 5: 142,567,938 probably benign Het
Olfr449 T A 6: 42,838,703 I274N possibly damaging Het
Olfr458 T C 6: 42,460,839 Y60C probably damaging Het
Olfr746 C T 14: 50,653,398 Q54* probably null Het
Olfr971 T A 9: 39,840,012 Y193N probably damaging Het
Parp14 A G 16: 35,841,430 S1412P probably benign Het
Prr30 A T 14: 101,198,391 V245E possibly damaging Het
Ros1 T A 10: 52,155,171 D458V probably damaging Het
Sec22c A G 9: 121,688,218 L138P probably damaging Het
Sema6d C A 2: 124,664,370 H699Q possibly damaging Het
Spata17 A T 1: 187,140,470 M1K probably null Het
Tpr T A 1: 150,426,967 D1331E probably benign Het
Ttc4 A G 4: 106,676,631 Y120H probably benign Het
Tubgcp4 A G 2: 121,196,173 probably null Het
Usp19 T A 9: 108,494,149 M285K probably benign Het
Vmn1r222 A T 13: 23,233,007 F12Y probably benign Het
Vmn2r72 T C 7: 85,750,867 K325E probably benign Het
Vps33b T C 7: 80,274,225 probably benign Het
Zfp784 C T 7: 5,036,352 probably benign Het
Other mutations in Fbxw8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00272:Fbxw8 APN 5 118068097 missense probably benign 0.00
IGL00435:Fbxw8 APN 5 118068137 missense probably benign 0.01
IGL00674:Fbxw8 APN 5 118095593 missense possibly damaging 0.94
IGL01306:Fbxw8 APN 5 118113720 missense possibly damaging 0.88
IGL02389:Fbxw8 APN 5 118128955 missense possibly damaging 0.57
IGL02438:Fbxw8 APN 5 118095693 missense probably benign 0.09
IGL02553:Fbxw8 APN 5 118066060 unclassified probably benign
IGL02752:Fbxw8 APN 5 118142750 missense probably damaging 1.00
IGL02975:Fbxw8 APN 5 118077695 missense probably benign 0.02
IGL03177:Fbxw8 APN 5 118128980 splice site probably benign
IGL03407:Fbxw8 APN 5 118142676 missense probably damaging 1.00
ANU23:Fbxw8 UTSW 5 118113720 missense possibly damaging 0.88
R0135:Fbxw8 UTSW 5 118070487 missense probably damaging 1.00
R0760:Fbxw8 UTSW 5 118065901 unclassified probably null
R1115:Fbxw8 UTSW 5 118077571 splice site probably benign
R1498:Fbxw8 UTSW 5 118065785 unclassified probably benign
R1689:Fbxw8 UTSW 5 118077617 missense probably damaging 0.97
R1897:Fbxw8 UTSW 5 118128876 missense probably benign 0.16
R2160:Fbxw8 UTSW 5 118124988 missense probably damaging 1.00
R2345:Fbxw8 UTSW 5 118065807 unclassified probably benign
R3743:Fbxw8 UTSW 5 118113639 missense probably damaging 1.00
R3935:Fbxw8 UTSW 5 118095718 missense probably benign 0.38
R4910:Fbxw8 UTSW 5 118125027 splice site probably null
R5220:Fbxw8 UTSW 5 118095711 missense possibly damaging 0.69
R5628:Fbxw8 UTSW 5 118092557 missense probably damaging 1.00
R6161:Fbxw8 UTSW 5 118092675 missense possibly damaging 0.94
R6184:Fbxw8 UTSW 5 118113749 missense probably damaging 1.00
R6582:Fbxw8 UTSW 5 118124963 missense probably benign 0.28
R6617:Fbxw8 UTSW 5 118142666 critical splice donor site probably null
R6785:Fbxw8 UTSW 5 118092689 missense probably damaging 1.00
R7363:Fbxw8 UTSW 5 118124992 missense probably damaging 0.97
R7395:Fbxw8 UTSW 5 118068215 missense probably damaging 1.00
R7674:Fbxw8 UTSW 5 118124971 nonsense probably null
Posted On2016-08-02