Incidental Mutation 'R1920:Fbxw2'
ID212908
Institutional Source Beutler Lab
Gene Symbol Fbxw2
Ensembl Gene ENSMUSG00000035949
Gene NameF-box and WD-40 domain protein 2
SynonymsMD6, FBW2, Fwd2
MMRRC Submission 039938-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R1920 (G1)
Quality Score225
Status Validated
Chromosome2
Chromosomal Location34804514-34826311 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 34822764 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 95 (T95I)
Ref Sequence ENSEMBL: ENSMUSP00000108700 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028220] [ENSMUST00000091020] [ENSMUST00000113075] [ENSMUST00000113077] [ENSMUST00000113078] [ENSMUST00000113080]
Predicted Effect probably benign
Transcript: ENSMUST00000028220
AA Change: T95I

PolyPhen 2 Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000028220
Gene: ENSMUSG00000035949
AA Change: T95I

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 benign
Transcript: ENSMUST00000091020
SMART Domains Protein: ENSMUSP00000088541
Gene: ENSMUSG00000035949

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 probably benign
Transcript: ENSMUST00000113075
AA Change: T95I

PolyPhen 2 Score 0.320 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000108698
Gene: ENSMUSG00000035949
AA Change: T95I

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: T95I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000108700
Gene: ENSMUSG00000035949
AA Change: T95I

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 probably benign
Transcript: ENSMUST00000113078
AA Change: T95I

PolyPhen 2 Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000108701
Gene: ENSMUSG00000035949
AA Change: T95I

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 benign
Transcript: ENSMUST00000113080
AA Change: T95I

PolyPhen 2 Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000108703
Gene: ENSMUSG00000035949
AA Change: T95I

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
Meta Mutation Damage Score 0.2089 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 97.0%
  • 10x: 95.7%
  • 20x: 93.4%
Validation Efficiency 98% (101/103)
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: 98 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700056E22Rik A G 1: 184,033,631 V77A probably benign Het
Actl7a G A 4: 56,744,135 V221M probably damaging Het
Alkbh2 C T 5: 114,124,226 E148K probably damaging Het
Arhgef10 C T 8: 14,956,987 probably benign Het
Asgr2 T C 11: 70,098,297 L86P possibly damaging Het
Atp12a A G 14: 56,386,851 R919G probably benign Het
Atrn A G 2: 130,995,051 Y1145C probably damaging Het
B3gnt5 T G 16: 19,769,544 L171R probably benign Het
Bbof1 T A 12: 84,411,085 N41K possibly damaging Het
Bdp1 A T 13: 100,098,589 W166R probably benign Het
Bean1 A T 8: 104,211,110 H107L possibly damaging Het
Brd4 T C 17: 32,198,086 probably benign Het
Cadps T C 14: 12,465,859 K1017R possibly damaging Het
Cep78 G A 19: 15,974,351 probably benign Het
Cfap70 C T 14: 20,394,952 A1087T probably damaging Het
Cideb A G 14: 55,755,243 V72A probably benign Het
Cpz T C 5: 35,517,668 E79G probably damaging Het
Crybg1 A G 10: 43,997,548 L1188P probably damaging Het
Cuzd1 G A 7: 131,309,696 P518L probably benign Het
Cyp2j5 A T 4: 96,663,254 N77K probably damaging Het
Cyp4f39 T G 17: 32,483,291 F254C probably benign Het
Dkk1 C A 19: 30,547,331 V225L probably damaging Het
Dlg5 T C 14: 24,176,571 Y421C probably damaging Het
Dll3 T C 7: 28,298,923 T206A probably benign Het
Dnhd1 T C 7: 105,713,407 C3766R probably benign Het
Dock9 G T 14: 121,583,380 S1534Y probably damaging Het
Dst T C 1: 34,161,029 V96A probably damaging Het
F2r A G 13: 95,604,190 F279S probably damaging Het
Fam208b A T 13: 3,576,612 Y1113N possibly damaging Het
Farp1 C A 14: 121,255,496 N503K probably benign Het
Fis1 A G 5: 136,965,607 T50A probably benign Het
Frzb T G 2: 80,446,428 E138A probably damaging Het
Fsip2 A T 2: 82,986,820 D4299V probably benign Het
Fyco1 C T 9: 123,830,413 D233N probably damaging Het
Gm14548 G C 7: 3,897,872 P20R probably damaging Het
Gmpr A G 13: 45,514,521 probably benign Het
Hc C T 2: 35,029,395 probably benign Het
Hnrnpa1 T C 15: 103,242,272 M186T possibly damaging Het
Kl A G 5: 150,982,667 K501E probably benign Het
Klhl42 A G 6: 147,107,929 N422S probably damaging Het
Kmt2d C G 15: 98,855,590 K127N probably damaging Het
Kmt2d T A 15: 98,855,591 K127M probably damaging Het
Krt39 T A 11: 99,514,635 T480S probably benign Het
Lims2 T A 18: 31,955,342 C198* probably null Het
Mctp1 A G 13: 76,384,610 N26D possibly damaging Het
Mdm4 A G 1: 133,003,800 S168P probably benign Het
Myo3a A G 2: 22,564,996 Y71C probably benign Het
Nlrp9c T A 7: 26,384,894 D420V probably damaging Het
Ntf3 A T 6: 126,102,522 I7N possibly damaging Het
Olfr1113 G A 2: 87,213,377 G162S probably benign Het
Olfr1224-ps1 A G 2: 89,156,581 V198A probably benign Het
Olfr272 G T 4: 52,910,849 T315K probably benign Het
Olfr885 T C 9: 38,061,685 Y122H probably damaging Het
Papln C A 12: 83,789,254 Y1222* probably null Het
Pgm3 T G 9: 86,558,478 I387L possibly damaging Het
Pkd1 C A 17: 24,595,157 P4167Q probably damaging Het
Plcb4 T A 2: 136,013,027 V1174E probably damaging Het
Polr1b A G 2: 129,101,111 N9D probably benign Het
Prkaa2 G A 4: 105,036,753 Q456* probably null Het
Ptch2 G T 4: 117,108,661 V425L probably benign Het
Ptprh A T 7: 4,549,395 S957T probably benign Het
Riok1 A G 13: 38,057,201 D444G probably benign Het
Rrbp1 A T 2: 143,988,291 V652E probably benign Het
Rrp36 C T 17: 46,672,745 R47Q possibly damaging Het
Sec24c T C 14: 20,686,887 S304P probably damaging Het
Serpinb6b A T 13: 32,975,008 D64V possibly damaging Het
Serpinb9b A T 13: 33,039,548 probably null Het
Six6 T A 12: 72,941,764 I237N probably damaging Het
Slc25a36 A T 9: 97,093,082 M127K probably benign Het
Slc2a10 A G 2: 165,514,630 D70G probably damaging Het
Slc2a3 T A 6: 122,736,741 I171F probably damaging Het
Smc4 A G 3: 69,033,068 T1087A probably damaging Het
Spg21 A G 9: 65,484,497 Y242C probably damaging Het
St14 A G 9: 31,089,870 V855A possibly damaging Het
Stx2 G A 5: 128,988,839 T251M probably damaging Het
Svs3b A T 2: 164,255,928 S158T probably benign Het
Synpo C T 18: 60,603,589 M428I probably benign Het
Tbc1d31 G A 15: 57,912,364 R17H probably damaging Het
Tbl3 G A 17: 24,704,503 T284I probably benign Het
Tcof1 T C 18: 60,838,855 T127A possibly damaging Het
Tgoln1 T C 6: 72,616,101 E132G probably benign Het
Timeless T C 10: 128,241,714 I221T probably damaging Het
Tmem176b C T 6: 48,838,204 A52T possibly damaging Het
Tmem192 C T 8: 64,965,583 L207F probably damaging Het
Trank1 T C 9: 111,347,928 probably null Het
Ttc7b C T 12: 100,415,130 probably null Het
Tubb5 T C 17: 35,835,298 Y340C probably benign Het
Ubr1 G A 2: 120,930,968 T576I probably benign Het
Vcan T C 13: 89,693,015 E1470G probably damaging Het
Vmn1r200 T A 13: 22,395,493 N146K probably damaging Het
Vmn2r120 T A 17: 57,524,839 I317F probably benign Het
Vmn2r61 T C 7: 42,300,286 I710T possibly damaging Het
Wipf1 T A 2: 73,440,155 K61N probably benign Het
Zfp112 T C 7: 24,125,237 V210A probably benign Het
Zfp612 G A 8: 110,088,463 V101M probably benign Het
Zfp637 A G 6: 117,845,720 R270G probably damaging Het
Zfp652 A G 11: 95,764,025 E418G possibly damaging Het
Zfp97 A G 17: 17,145,003 I255V probably benign 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
IGL01934:Fbxw2 APN 2 34822606 missense probably damaging 0.99
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
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
Predicted Primers PCR Primer
(F):5'- CCTGTACAGAGAAGTCCATCTTTG -3'
(R):5'- CACCTGATTAGTCTGAGTGGGG -3'

Sequencing Primer
(F):5'- GAAGTCCATCTTTGTAGTAAAGTGC -3'
(R):5'- GCAGTCCAGCTCAGGCATC -3'
Posted On2014-07-14