Incidental Mutation 'IGL01934:Fbxw2'
ID180542
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fbxw2
Ensembl Gene ENSMUSG00000035949
Gene NameF-box and WD-40 domain protein 2
SynonymsMD6, FBW2, Fwd2
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01934
Quality Score
Status
Chromosome2
Chromosomal Location34804514-34826311 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 34822606 bp
ZygosityHeterozygous
Amino Acid Change Serine to Glycine at position 148 (S148G)
Ref Sequence ENSEMBL: ENSMUSP00000108700 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028220] [ENSMUST00000091020] [ENSMUST00000113075] [ENSMUST00000113077] [ENSMUST00000113078] [ENSMUST00000113080]
Predicted Effect possibly damaging
Transcript: ENSMUST00000028220
AA Change: S148G

PolyPhen 2 Score 0.833 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000028220
Gene: ENSMUSG00000035949
AA Change: S148G

DomainStartEndE-ValueType
FBOX 60 100 4.19e-7 SMART
WD40 137 174 4.48e-2 SMART
WD40 177 212 6.19e-1 SMART
WD40 215 254 4.44e-6 SMART
WD40 257 305 4.95e0 SMART
WD40 311 351 6.6e1 SMART
Blast:WD40 409 451 6e-19 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000091020
AA Change: S19G

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000088541
Gene: ENSMUSG00000035949
AA Change: S19G

DomainStartEndE-ValueType
WD40 8 45 4.48e-2 SMART
WD40 48 83 6.19e-1 SMART
WD40 86 125 4.44e-6 SMART
WD40 128 176 4.95e0 SMART
WD40 182 222 6.6e1 SMART
Blast:WD40 280 322 2e-19 BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000113075
AA Change: S148G

PolyPhen 2 Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000108698
Gene: ENSMUSG00000035949
AA Change: S148G

DomainStartEndE-ValueType
FBOX 60 100 4.19e-7 SMART
WD40 137 174 4.48e-2 SMART
WD40 177 212 6.19e-1 SMART
WD40 215 254 4.44e-6 SMART
WD40 257 305 4.95e0 SMART
WD40 311 351 6.6e1 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000113077
AA Change: S148G

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000108700
Gene: ENSMUSG00000035949
AA Change: S148G

DomainStartEndE-ValueType
FBOX 60 100 4.19e-7 SMART
WD40 137 189 1.03e0 SMART
WD40 192 240 4.95e0 SMART
WD40 246 286 6.6e1 SMART
Blast:WD40 344 386 3e-19 BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000113078
AA Change: S148G

PolyPhen 2 Score 0.833 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000108701
Gene: ENSMUSG00000035949
AA Change: S148G

DomainStartEndE-ValueType
FBOX 60 100 4.19e-7 SMART
WD40 137 174 4.48e-2 SMART
WD40 177 212 6.19e-1 SMART
WD40 215 254 4.44e-6 SMART
WD40 257 305 4.95e0 SMART
WD40 311 351 6.6e1 SMART
Blast:WD40 409 451 6e-19 BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000113080
AA Change: S148G

PolyPhen 2 Score 0.833 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000108703
Gene: ENSMUSG00000035949
AA Change: S148G

DomainStartEndE-ValueType
FBOX 60 100 4.19e-7 SMART
WD40 137 174 4.48e-2 SMART
WD40 177 212 6.19e-1 SMART
WD40 215 254 4.44e-6 SMART
WD40 257 305 4.95e0 SMART
WD40 311 351 6.6e1 SMART
Blast:WD40 409 451 6e-19 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126051
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131534
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134323
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145660
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150865
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156130
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201806
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] F-box proteins are an expanding family of eukaryotic proteins characterized by an approximately 40 amino acid motif, the F box. Some F-box proteins have been shown to be critical for the ubiquitin-mediated degradation of cellular regulatory proteins. In fact, F-box proteins are one of the four subunits of ubiquitin protein ligases, called SCFs. SCF ligases bring ubiquitin conjugating enzymes to substrates that are specifically recruited by the different F-box proteins. Mammalian F-box proteins are classified into three groups based on the presence of either WD-40 repeats, leucine-rich repeats, or the presence or absence of other protein-protein interacting domains. This gene encodes the second identified member of the F-box gene family and contains multiple WD-40 repeats. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931414P19Rik T C 14: 54,585,655 K362E probably damaging Het
4932438H23Rik T A 16: 91,055,865 T128S probably damaging Het
Aars T A 8: 111,048,018 I593N probably damaging Het
Abca6 A T 11: 110,188,655 N1224K probably benign Het
Abcc5 A T 16: 20,422,441 probably benign Het
Adam7 A G 14: 68,532,599 L35P probably damaging Het
Ahnak T A 19: 9,002,657 L435Q probably damaging Het
Ankef1 A G 2: 136,552,531 E620G possibly damaging Het
Ap3d1 A T 10: 80,709,258 L1082* probably null Het
Atp6v0a4 T A 6: 38,051,546 I712F possibly damaging Het
Bco1 T A 8: 117,096,045 F5L possibly damaging Het
Cacna2d4 A T 6: 119,308,768 S794C probably damaging Het
Camk2d T C 3: 126,834,655 probably null Het
Capn15 T C 17: 25,963,024 T604A probably damaging Het
Cd180 A T 13: 102,702,858 D83V probably damaging Het
Ces1a C A 8: 93,032,650 R286L probably damaging Het
Col6a6 A G 9: 105,698,659 probably null Het
Crnkl1 A G 2: 145,931,282 V148A probably benign Het
Epas1 A T 17: 86,823,729 K312N probably damaging Het
Fig4 T C 10: 41,228,112 T791A probably benign Het
Galnt9 A T 5: 110,602,636 I340F possibly damaging Het
Gfap G A 11: 102,894,460 A230V probably damaging Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm454 T C 5: 138,207,162 noncoding transcript Het
Il24 A T 1: 130,883,877 L115Q probably damaging Het
Ipp C A 4: 116,510,655 N28K probably damaging Het
Kalrn A T 16: 34,198,512 probably null Het
Klf10 C T 15: 38,297,284 V171M probably benign Het
Man1b1 T C 2: 25,345,511 S350P probably benign Het
Mfsd4a T C 1: 132,046,311 Y343C probably damaging Het
Mrpl58 C A 11: 115,410,729 probably benign Het
Myo7b A G 18: 32,001,341 probably null Het
Nbas T C 12: 13,289,879 probably benign Het
Nisch A G 14: 31,176,739 probably benign Het
Olfr494 A G 7: 108,368,161 I224V probably damaging Het
Olfr619 T C 7: 103,603,975 F107S probably damaging Het
Olfr97 A T 17: 37,231,548 V274D probably damaging Het
Parva T A 7: 112,588,553 C352* probably null Het
Ptf1a T A 2: 19,446,620 C254S possibly damaging Het
R3hdm1 G T 1: 128,236,535 R1062L probably benign Het
Rnf44 A G 13: 54,681,950 V407A probably damaging Het
Shank3 T C 15: 89,549,846 L1598P probably damaging Het
Slit2 T C 5: 48,238,405 S717P possibly damaging Het
Svs1 A T 6: 48,988,761 I568F probably damaging Het
Tdpoz4 A G 3: 93,797,472 K359E probably damaging Het
Tmtc4 A T 14: 122,927,635 L604* probably null Het
Tnfrsf21 A T 17: 43,065,187 N488I probably benign Het
Tnfsf8 A G 4: 63,834,510 probably benign Het
Tnpo3 A T 6: 29,575,020 L382M probably benign Het
Tut1 T C 19: 8,953,991 C18R probably damaging Het
Ugt8a A G 3: 125,914,775 S229P probably benign Het
Usp22 T C 11: 61,155,288 E476G probably damaging Het
Vill G T 9: 119,066,809 A146S probably damaging Het
Vmn1r178 T C 7: 23,893,937 Y137H probably damaging Het
Wdfy1 A T 1: 79,740,116 W51R probably damaging Het
Zc3hav1 A T 6: 38,319,833 probably null Het
Zfp236 A T 18: 82,633,120 V889E probably damaging Het
Zscan20 T C 4: 128,592,484 D141G possibly damaging Het
Other mutations in Fbxw2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00425:Fbxw2 APN 2 34812949 missense probably benign 0.38
IGL00498:Fbxw2 APN 2 34805941 missense probably damaging 1.00
IGL01359:Fbxw2 APN 2 34822750 missense probably benign 0.07
IGL01770:Fbxw2 APN 2 34811026 missense possibly damaging 0.56
IGL01794:Fbxw2 APN 2 34811119 splice site probably benign
IGL02444:Fbxw2 APN 2 34805781 missense probably benign 0.09
IGL02948:Fbxw2 APN 2 34805711 makesense probably null
IGL03209:Fbxw2 APN 2 34822663 missense probably damaging 1.00
silkpurse UTSW 2 34812813 critical splice donor site probably null
R0597:Fbxw2 UTSW 2 34811020 missense probably damaging 0.99
R0636:Fbxw2 UTSW 2 34822847 nonsense probably null
R1489:Fbxw2 UTSW 2 34812817 small insertion probably benign
R1920:Fbxw2 UTSW 2 34822764 missense probably damaging 1.00
R3177:Fbxw2 UTSW 2 34822750 missense probably benign 0.07
R3277:Fbxw2 UTSW 2 34822750 missense probably benign 0.07
R6194:Fbxw2 UTSW 2 34807404 missense probably damaging 1.00
R6236:Fbxw2 UTSW 2 34822833 missense probably damaging 1.00
R6258:Fbxw2 UTSW 2 34812813 critical splice donor site probably null
R7382:Fbxw2 UTSW 2 34807302 missense probably benign 0.01
R7636:Fbxw2 UTSW 2 34812944 missense probably benign 0.00
R8361:Fbxw2 UTSW 2 34807414 missense possibly damaging 0.90
R8841:Fbxw2 UTSW 2 34822832 start gained probably benign
Posted On2014-05-07