Incidental Mutation 'IGL02389:Fbxw8'
ID 291663
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 # IGL02389
Quality Score
Status
Chromosome 5
Chromosomal Location 118203046-118293523 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 118267020 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 148 (V148M)
Ref Sequence ENSEMBL: ENSMUSP00000047012 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049474]
AlphaFold Q8BIA4
Predicted Effect possibly damaging
Transcript: ENSMUST00000049474
AA Change: V148M

PolyPhen 2 Score 0.569 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000047012
Gene: ENSMUSG00000032867
AA Change: V148M

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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik G A 5: 64,053,826 (GRCm39) S11N probably null Het
Aqp9 T C 9: 71,030,188 (GRCm39) I200V possibly damaging Het
Cntn2 T C 1: 132,453,059 (GRCm39) E411G probably damaging Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Cstdc5 C A 16: 36,187,848 (GRCm39) V6F possibly damaging Het
Dennd3 A G 15: 73,438,905 (GRCm39) D1091G probably damaging Het
Dock2 T C 11: 34,589,567 (GRCm39) probably benign Het
Dscam T A 16: 96,442,097 (GRCm39) I1577F probably benign Het
Egflam A T 15: 7,279,559 (GRCm39) N482K probably benign Het
Fam216a T C 5: 122,505,574 (GRCm39) T129A probably damaging Het
Fbxo40 T C 16: 36,790,136 (GRCm39) M325V probably benign Het
Fcgbp C T 7: 27,774,596 (GRCm39) R57C probably damaging Het
Gnpnat1 A G 14: 45,618,388 (GRCm39) probably null Het
Gria2 T C 3: 80,616,729 (GRCm39) T408A probably benign Het
H2-T3 A G 17: 36,497,500 (GRCm39) M59T probably benign Het
Jakmip1 C T 5: 37,258,187 (GRCm39) Q278* probably null Het
Krtap21-1 C T 16: 89,200,312 (GRCm39) G110D unknown Het
Myo7a C T 7: 97,756,198 (GRCm39) probably null Het
Nlrp9c T A 7: 26,093,632 (GRCm39) Q11L probably benign Het
Or14a257 A G 7: 86,138,336 (GRCm39) L141P probably damaging Het
Or5b94 A T 19: 12,651,899 (GRCm39) D110V probably benign Het
Or6c75 T A 10: 129,336,939 (GRCm39) M62K probably benign Het
Or6c8 A C 10: 128,915,099 (GRCm39) I244M probably damaging Het
Pdzd8 A G 19: 59,289,825 (GRCm39) I525T probably benign Het
Pign A T 1: 105,574,506 (GRCm39) L280* probably null Het
Pik3r4 T G 9: 105,527,530 (GRCm39) I294M possibly damaging Het
Pkhd1 T A 1: 20,187,944 (GRCm39) I3455F probably damaging Het
Prmt3 C T 7: 49,498,506 (GRCm39) Q471* probably null Het
Prrc2c A G 1: 162,520,439 (GRCm39) F2006L probably damaging Het
Ptger3 C T 3: 157,272,808 (GRCm39) R52C probably damaging Het
Rfx2 T C 17: 57,115,325 (GRCm39) probably benign Het
Sh3bp4 T C 1: 89,072,870 (GRCm39) F573L probably damaging Het
Slc18a2 G T 19: 59,251,733 (GRCm39) probably benign Het
Slc26a8 T A 17: 28,857,624 (GRCm39) I840F probably benign Het
Slc5a4b A T 10: 75,908,299 (GRCm39) Y364* probably null Het
Slitrk1 A G 14: 109,149,754 (GRCm39) I319T probably benign Het
Stxbp5l C T 16: 37,028,567 (GRCm39) A499T probably benign Het
Tnks2 T A 19: 36,861,503 (GRCm39) S951R probably benign Het
Trim30c A G 7: 104,031,381 (GRCm39) F478S probably benign Het
Tyro3 C T 2: 119,635,345 (GRCm39) probably benign Het
Vmn1r34 A T 6: 66,614,042 (GRCm39) L232Q probably damaging Het
Zfp148 T A 16: 33,315,816 (GRCm39) C215S probably damaging Het
Zzef1 C T 11: 72,782,043 (GRCm39) P1995S probably benign Het
Zzef1 T A 11: 72,790,364 (GRCm39) V2106D possibly damaging 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
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
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 2015-04-16