Incidental Mutation 'IGL01306:Fbxw8'
ID 73443
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 # IGL01306
Quality Score
Chromosome 5
Chromosomal Location 118203046-118293523 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 118251785 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 243 (V243M)
Ref Sequence ENSEMBL: ENSMUSP00000047012 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049474]
AlphaFold Q8BIA4
Predicted Effect possibly damaging
Transcript: ENSMUST00000049474
AA Change: V243M

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000047012
Gene: ENSMUSG00000032867
AA Change: V243M

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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd12b G A 12: 70,215,822 (GRCm39) G88S probably damaging Het
Acot10 A G 15: 20,666,051 (GRCm39) F230S probably benign Het
Ago4 T C 4: 126,409,677 (GRCm39) probably null Het
Akap12 G T 10: 4,303,273 (GRCm39) A28S probably benign Het
Anks1 C A 17: 28,205,227 (GRCm39) T262K probably damaging Het
Arfgap3 A G 15: 83,197,710 (GRCm39) Y349H possibly damaging Het
Bltp1 T C 3: 37,059,162 (GRCm39) probably benign Het
Camsap2 T A 1: 136,225,528 (GRCm39) E199D probably benign Het
Ccdc13 A T 9: 121,656,429 (GRCm39) M128K probably benign Het
Ccdc38 T C 10: 93,405,797 (GRCm39) probably null Het
Cep95 G A 11: 106,704,641 (GRCm39) V499I probably benign Het
Cpne6 A T 14: 55,752,706 (GRCm39) I299F probably damaging Het
Cse1l T A 2: 166,769,428 (GRCm39) Y278* probably null Het
Dip2c A G 13: 9,625,179 (GRCm39) N558D possibly damaging Het
Edar A T 10: 58,464,460 (GRCm39) C60S probably damaging Het
Fat2 T C 11: 55,201,698 (GRCm39) N459D probably benign Het
Fem1b G A 9: 62,704,810 (GRCm39) A150V possibly damaging Het
Gal3st1 A G 11: 3,948,405 (GRCm39) Y204C probably damaging Het
Gm5422 A T 10: 31,125,432 (GRCm39) noncoding transcript Het
Grin2c T C 11: 115,147,020 (GRCm39) T392A probably benign Het
Itpk1 T C 12: 102,572,362 (GRCm39) E117G probably damaging Het
Kif12 G T 4: 63,084,121 (GRCm39) P627Q probably damaging Het
Krtap15-1 T A 16: 88,626,255 (GRCm39) F88L probably benign Het
Mlh1 T C 9: 111,081,980 (GRCm39) N248D possibly damaging Het
Or2i1 T C 17: 37,507,833 (GRCm39) N342S probably benign Het
Or4k15 A G 14: 50,364,039 (GRCm39) N2D probably benign Het
Or52z12 T C 7: 103,233,900 (GRCm39) Y224H probably damaging Het
Per2 T C 1: 91,376,555 (GRCm39) H106R probably damaging Het
Pfkl T A 10: 77,827,229 (GRCm39) T486S probably benign Het
Prkdc T C 16: 15,485,595 (GRCm39) V474A possibly damaging Het
Scamp4 C A 10: 80,445,256 (GRCm39) Q34K probably damaging Het
Serpinb3b A G 1: 107,082,395 (GRCm39) Y290H probably damaging Het
Sft2d2 G T 1: 165,011,564 (GRCm39) A110E probably benign Het
Siglecf T A 7: 43,001,377 (GRCm39) L115* probably null Het
Slc6a11 C T 6: 114,111,626 (GRCm39) T103M probably damaging Het
Slco1a1 T A 6: 141,892,313 (GRCm39) K18* probably null Het
Spata1 A T 3: 146,193,154 (GRCm39) Y112* probably null Het
Tbc1d32 G A 10: 56,056,620 (GRCm39) T440I probably benign Het
Vmn2r111 T A 17: 22,787,965 (GRCm39) E462V probably damaging Het
Wnt16 C T 6: 22,297,934 (GRCm39) R267C probably damaging Het
Xylt1 A C 7: 117,148,125 (GRCm39) S230R 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
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
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 2013-10-07