Incidental Mutation 'IGL03333:Fbxw8'
ID 416941
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fbxw8
Ensembl Gene ENSMUSG00000032867
Gene Name F-box and WD-40 domain protein 8
Synonyms 4930438M06Rik, Fbx29, FBXO29, FBW6, FBW8
Accession Numbers
Essential gene? Possibly essential (E-score: 0.546) question?
Stock # IGL03333
Quality Score
Status
Chromosome 5
Chromosomal Location 118203046-118293523 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 118233660 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 324 (M324V)
Ref Sequence ENSEMBL: ENSMUSP00000047012 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049474]
AlphaFold Q8BIA4
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: 76,610,932 (GRCm39) M893V probably benign Het
Ccdc185 C A 1: 182,576,398 (GRCm39) G97V probably damaging Het
Cep170 T C 1: 176,597,092 (GRCm39) T422A possibly damaging Het
Ckap2l A C 2: 129,138,228 (GRCm39) probably null Het
Cpa3 A G 3: 20,269,992 (GRCm39) Y411H possibly damaging Het
Dnah2 C A 11: 69,385,949 (GRCm39) R1011L probably damaging Het
Efnb2 T A 8: 8,689,275 (GRCm39) K30* probably null Het
Ep400 C T 5: 110,851,432 (GRCm39) R1350H unknown Het
Epha6 T C 16: 59,503,051 (GRCm39) D952G probably damaging Het
Exoc7 C A 11: 116,191,987 (GRCm39) V195L probably benign Het
Fchsd2 T C 7: 100,847,703 (GRCm39) S198P probably damaging Het
Gcdh T C 8: 85,617,700 (GRCm39) T202A probably benign Het
Gm6619 G A 6: 131,467,471 (GRCm39) probably benign Het
Itpr1 A T 6: 108,357,871 (GRCm39) probably benign Het
Kif2c A C 4: 117,037,833 (GRCm39) V31G possibly damaging Het
Kpna7 T C 5: 144,942,765 (GRCm39) I74V possibly damaging Het
Lvrn G A 18: 46,997,731 (GRCm39) probably benign Het
Man2b2 T A 5: 36,973,483 (GRCm39) I499F probably damaging Het
Mmd2 G T 5: 142,553,693 (GRCm39) probably benign Het
Or11h7 C T 14: 50,890,855 (GRCm39) Q54* probably null Het
Or2r11 T C 6: 42,437,773 (GRCm39) Y60C probably damaging Het
Or6b1 T A 6: 42,815,637 (GRCm39) I274N possibly damaging Het
Or8g2b T A 9: 39,751,308 (GRCm39) Y193N probably damaging Het
Parp14 A G 16: 35,661,800 (GRCm39) S1412P probably benign Het
Prr30 A T 14: 101,435,827 (GRCm39) V245E possibly damaging Het
Ros1 T A 10: 52,031,267 (GRCm39) D458V probably damaging Het
Sec22c A G 9: 121,517,284 (GRCm39) L138P probably damaging Het
Sema6d C A 2: 124,506,290 (GRCm39) H699Q possibly damaging Het
Spata17 A T 1: 186,872,667 (GRCm39) M1K probably null Het
Tpr T A 1: 150,302,718 (GRCm39) D1331E probably benign Het
Ttc4 A G 4: 106,533,828 (GRCm39) Y120H probably benign Het
Tubgcp4 A G 2: 121,026,654 (GRCm39) probably null Het
Usp19 T A 9: 108,371,348 (GRCm39) M285K probably benign Het
Vmn1r222 A T 13: 23,417,177 (GRCm39) F12Y probably benign Het
Vmn2r72 T C 7: 85,400,075 (GRCm39) K325E probably benign Het
Vps33b T C 7: 79,923,973 (GRCm39) probably benign Het
Zfp784 C T 7: 5,039,351 (GRCm39) 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
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
R2160:Fbxw8 UTSW 5 118,263,053 (GRCm39) missense probably damaging 1.00
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
Posted On 2016-08-02