Incidental Mutation 'R1175:Fbxw11'
ID99978
Institutional Source Beutler Lab
Gene Symbol Fbxw11
Ensembl Gene ENSMUSG00000020271
Gene NameF-box and WD-40 domain protein 11
SynonymsHOS, 2310065A07Rik, Fbxw1b, BTRC2, BTRCP2
MMRRC Submission 039248-MU
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.973) question?
Stock #R1175 (G1)
Quality Score225
Status Validated
Chromosome11
Chromosomal Location32642724-32746816 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 32711922 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Arginine at position 121 (C121R)
Ref Sequence ENSEMBL: ENSMUSP00000075721 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076383] [ENSMUST00000093205] [ENSMUST00000109366]
Predicted Effect probably damaging
Transcript: ENSMUST00000076383
AA Change: C121R

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000075721
Gene: ENSMUSG00000020271
AA Change: C121R

DomainStartEndE-ValueType
Beta-TrCP_D 98 137 5.48e-26 SMART
FBOX 149 188 5.08e-6 SMART
WD40 250 287 6.89e-3 SMART
WD40 290 327 3.78e-9 SMART
WD40 330 367 7.73e-6 SMART
WD40 373 410 9.67e-7 SMART
WD40 413 450 3.93e-7 SMART
WD40 453 490 8.42e-7 SMART
WD40 502 539 2.48e-4 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000093205
AA Change: C100R

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000090893
Gene: ENSMUSG00000020271
AA Change: C100R

DomainStartEndE-ValueType
Beta-TrCP_D 77 116 5.48e-26 SMART
FBOX 128 167 5.08e-6 SMART
WD40 229 266 6.89e-3 SMART
WD40 269 306 3.78e-9 SMART
WD40 309 346 7.73e-6 SMART
WD40 352 389 9.67e-7 SMART
WD40 392 429 3.93e-7 SMART
WD40 432 469 8.42e-7 SMART
WD40 481 518 2.48e-4 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000109366
AA Change: C87R

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000104991
Gene: ENSMUSG00000020271
AA Change: C87R

DomainStartEndE-ValueType
Beta-TrCP_D 64 103 5.48e-26 SMART
FBOX 115 154 5.08e-6 SMART
WD40 216 253 6.89e-3 SMART
WD40 256 293 3.78e-9 SMART
WD40 296 333 7.73e-6 SMART
WD40 339 376 9.67e-7 SMART
WD40 379 416 3.93e-7 SMART
WD40 419 456 8.42e-7 SMART
WD40 468 505 2.48e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000143290
Meta Mutation Damage Score 0.6884 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.8%
  • 10x: 94.7%
  • 20x: 88.0%
Validation Efficiency 100% (74/74)
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 which is 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 3 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 belongs to the Fbws class and, in addition to an F-box, contains multiple WD40 repeats. This gene contains at least 14 exons, and its alternative splicing generates 3 transcript variants diverging at the presence/absence of two alternate exons. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610318N02Rik T A 16: 17,117,582 H214L probably benign Het
3110043O21Rik C A 4: 35,218,630 E76D probably damaging Het
4921507P07Rik T A 6: 50,589,141 K118M probably damaging Het
A430078G23Rik T A 8: 3,389,023 probably benign Het
Abca17 T C 17: 24,289,351 E1070G possibly damaging Het
Accsl A T 2: 93,866,244 probably benign Het
Akp3 G A 1: 87,127,871 G547R unknown Het
Anapc1 C A 2: 128,680,188 C150F probably damaging Het
Borcs5 T A 6: 134,710,133 N150K probably damaging Het
Cdh7 G A 1: 110,061,132 V255I probably benign Het
Cntnap5c C A 17: 58,364,246 T1143K possibly damaging Het
Col7a1 A C 9: 108,955,334 T137P unknown Het
Defb8 C T 8: 19,445,894 G50E probably damaging Het
Dimt1 T A 13: 106,949,685 probably benign Het
Dnajb11 T A 16: 22,870,673 D281E probably damaging Het
Eci2 G T 13: 34,993,104 N24K probably damaging Het
Fbn1 A T 2: 125,394,687 C358S probably benign Het
Fbxl13 A T 5: 21,620,604 probably benign Het
Fsd2 T C 7: 81,559,770 D108G probably benign Het
Gab1 C A 8: 80,784,842 R458L probably damaging Het
Ghrhr T A 6: 55,388,269 L416* probably null Het
Glipr1l2 C A 10: 112,083,466 L31I possibly damaging Het
Gm1818 A G 12: 48,556,199 noncoding transcript Het
Gm19965 T A 1: 116,820,820 probably benign Het
Gpr149 A G 3: 62,604,467 L37P probably damaging Het
Hoxa9 A G 6: 52,225,713 I131T probably damaging Het
Itpkc T C 7: 27,227,770 I240V probably benign Het
Jakmip3 A G 7: 139,027,786 D552G probably damaging Het
Kank4 T C 4: 98,765,569 Y874C probably damaging Het
Kdm3a T C 6: 71,600,027 E768G possibly damaging Het
Klf6 A G 13: 5,861,712 D25G probably benign Het
Lamc1 T C 1: 153,247,231 probably benign Het
Laptm4a T C 12: 8,936,716 V258A probably damaging Het
Map3k19 A G 1: 127,823,880 V578A probably benign Het
Mast1 T C 8: 84,925,327 E342G probably benign Het
Mgat5b T C 11: 116,977,796 L515P probably damaging Het
Mink1 A G 11: 70,611,340 D985G probably benign Het
Mphosph9 A G 5: 124,315,676 V191A possibly damaging Het
Muc6 C T 7: 141,648,101 G708S probably damaging Het
Papd5 T A 8: 88,252,007 F445L probably damaging Het
Pcnt A T 10: 76,393,044 probably null Het
Psmd8 A T 7: 29,176,173 Y174N probably damaging Het
Ptgdr2 C A 19: 10,940,928 R270S possibly damaging Het
Rasal2 A G 1: 157,147,648 M1172T probably damaging Het
Rif1 A G 2: 52,107,628 probably benign Het
Rnf123 C T 9: 108,077,373 R48H probably benign Het
Rsrc1 T C 3: 67,356,218 probably benign Het
Rxfp2 T C 5: 150,051,556 V210A probably benign Het
Serpinb9d C T 13: 33,200,625 P195L probably benign Het
Sis A G 3: 72,958,104 probably benign Het
Skint4 T C 4: 112,124,596 M246T probably benign Het
Snrnp200 C A 2: 127,229,077 R1093S probably damaging Het
Sp100 A G 1: 85,701,420 N471D possibly damaging Het
Ssxb8 T G X: 8,689,823 H88P probably damaging Het
Sufu T C 19: 46,401,264 probably null Het
Svs1 C A 6: 48,990,239 P707H probably damaging Het
Synpo2l G A 14: 20,668,167 T10I possibly damaging Het
Tdo2 A T 3: 81,974,376 S40R probably damaging Het
Terb1 G A 8: 104,484,306 T363I probably benign Het
Timd4 C T 11: 46,817,671 P175S probably damaging Het
Tlr3 C A 8: 45,397,134 V833L probably damaging Het
Tpst2 T A 5: 112,308,045 M150K probably damaging Het
Trim67 T A 8: 124,817,035 V378E probably damaging Het
Tyrp1 C T 4: 80,844,868 Q331* probably null Het
Ubap2l A T 3: 90,023,500 S413T probably benign Het
Uimc1 G A 13: 55,028,602 T701I possibly damaging Het
Vangl2 G T 1: 172,004,786 T501N probably damaging Het
Vmn1r60 A G 7: 5,544,622 S160P probably benign Het
Vmn2r66 G T 7: 85,005,591 D503E probably benign Het
Vmn2r72 T A 7: 85,751,944 E89V probably damaging Het
Zfp457 G A 13: 67,293,684 P180S probably damaging Het
Other mutations in Fbxw11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01475:Fbxw11 APN 11 32722101 missense possibly damaging 0.94
IGL01828:Fbxw11 APN 11 32720505 missense probably damaging 1.00
PIT4651001:Fbxw11 UTSW 11 32711999 critical splice donor site probably null
R0311:Fbxw11 UTSW 11 32722083 missense probably benign 0.00
R0331:Fbxw11 UTSW 11 32711895 missense probably damaging 0.99
R0597:Fbxw11 UTSW 11 32720496 missense probably damaging 1.00
R0989:Fbxw11 UTSW 11 32735149 missense probably benign 0.17
R1327:Fbxw11 UTSW 11 32711859 missense probably benign 0.00
R1589:Fbxw11 UTSW 11 32733612 missense probably damaging 1.00
R3155:Fbxw11 UTSW 11 32739244 missense possibly damaging 0.93
R4084:Fbxw11 UTSW 11 32739248 missense probably damaging 1.00
R4610:Fbxw11 UTSW 11 32711859 missense possibly damaging 0.48
R4677:Fbxw11 UTSW 11 32742535 nonsense probably null
R4694:Fbxw11 UTSW 11 32642820 unclassified probably benign
R4946:Fbxw11 UTSW 11 32739226 missense probably damaging 1.00
R5027:Fbxw11 UTSW 11 32652811 intron probably benign
R5345:Fbxw11 UTSW 11 32738471 missense probably damaging 1.00
R5459:Fbxw11 UTSW 11 32739191 missense possibly damaging 0.85
R5802:Fbxw11 UTSW 11 32711790 missense probably benign 0.18
R5820:Fbxw11 UTSW 11 32735374 missense probably damaging 1.00
R6181:Fbxw11 UTSW 11 32742575 missense probably benign
R6365:Fbxw11 UTSW 11 32720623 missense possibly damaging 0.75
R6948:Fbxw11 UTSW 11 32742597 missense probably damaging 0.98
R7251:Fbxw11 UTSW 11 32731370 missense probably benign 0.00
R7475:Fbxw11 UTSW 11 32711999 critical splice donor site probably null
R7893:Fbxw11 UTSW 11 32720489 missense probably benign
R7970:Fbxw11 UTSW 11 32722101 missense probably benign 0.00
R8121:Fbxw11 UTSW 11 32720646 missense possibly damaging 0.78
X0064:Fbxw11 UTSW 11 32711859 missense probably benign 0.00
Z1177:Fbxw11 UTSW 11 32738480 missense probably null 1.00
Predicted Primers
Posted On2014-01-15