Incidental Mutation 'R5802:Fbxw11'
ID 448796
Institutional Source Beutler Lab
Gene Symbol Fbxw11
Ensembl Gene ENSMUSG00000020271
Gene Name F-box and WD-40 domain protein 11
Synonyms 2310065A07Rik, BTRC2, Fbxw1b, HOS, BTRCP2
MMRRC Submission 043391-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.971) question?
Stock # R5802 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 32592724-32696816 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 32661790 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 56 (S56T)
Ref Sequence ENSEMBL: ENSMUSP00000090893 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076383] [ENSMUST00000093205] [ENSMUST00000109366]
AlphaFold Q5SRY7
Predicted Effect probably benign
Transcript: ENSMUST00000076383
AA Change: S77T

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000075721
Gene: ENSMUSG00000020271
AA Change: S77T

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 probably benign
Transcript: ENSMUST00000093205
AA Change: S56T

PolyPhen 2 Score 0.180 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000090893
Gene: ENSMUSG00000020271
AA Change: S56T

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 probably benign
Transcript: ENSMUST00000109366
AA Change: S43T

PolyPhen 2 Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000104991
Gene: ENSMUSG00000020271
AA Change: S43T

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 0.0755 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 97% (63/65)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A830018L16Rik A T 1: 12,021,188 (GRCm39) D383V probably damaging Het
AAdacl4fm3 T A 4: 144,430,206 (GRCm39) D261V probably damaging Het
Abca4 A T 3: 121,847,881 (GRCm39) L67F probably damaging Het
Abcc9 C A 6: 142,602,402 (GRCm39) probably null Het
Atp2a3 T C 11: 72,863,708 (GRCm39) V175A probably damaging Het
B3galt4 T A 17: 34,169,731 (GRCm39) D169V probably damaging Het
Bsn C T 9: 107,990,208 (GRCm39) R1848Q possibly damaging Het
Camkk2 T C 5: 122,872,307 (GRCm39) E90G probably damaging Het
Cdon T A 9: 35,365,716 (GRCm39) I155N probably damaging Het
Cep70 A G 9: 99,178,458 (GRCm39) N519D probably damaging Het
Clgn T C 8: 84,152,243 (GRCm39) S582P probably damaging Het
Cnga3 T C 1: 37,300,006 (GRCm39) F280S probably damaging Het
Dennd4c C T 4: 86,729,690 (GRCm39) T764M probably benign Het
Dis3 A T 14: 99,337,100 (GRCm39) S4T probably damaging Het
Dlgap1 T C 17: 71,073,086 (GRCm39) probably null Het
Dnah17 C T 11: 117,927,272 (GRCm39) V3839I possibly damaging Het
Dnajc1 A G 2: 18,289,550 (GRCm39) Y286H probably benign Het
Dynap T A 18: 70,374,073 (GRCm39) D151V unknown Het
Ednrb A G 14: 104,059,150 (GRCm39) F292S probably damaging Het
Eef1a1 A G 9: 78,386,318 (GRCm39) S396P probably damaging Het
Fancg A G 4: 43,006,582 (GRCm39) F324S probably benign Het
Gm17535 G C 9: 3,035,758 (GRCm39) V209L probably benign Homo
Gm5592 C T 7: 40,868,529 (GRCm39) probably benign Het
Gpr137 C T 19: 6,919,373 (GRCm39) W51* probably null Het
H2-T9 A G 17: 36,422,179 (GRCm39) probably benign Het
Hbb-bs T C 7: 103,475,879 (GRCm39) Y146C probably damaging Het
Herc1 G T 9: 66,370,160 (GRCm39) C2982F probably damaging Het
Hnrnpa3 T A 2: 75,495,400 (GRCm39) N309K unknown Het
Hydin A T 8: 111,178,692 (GRCm39) I1096F possibly damaging Het
Klf12 A G 14: 100,260,330 (GRCm39) V133A probably benign Het
Lats2 A T 14: 57,931,875 (GRCm39) Y848N probably damaging Het
Loxl3 A G 6: 83,026,270 (GRCm39) T453A possibly damaging Het
Ltn1 T G 16: 87,212,569 (GRCm39) H664P probably benign Het
Lypd6 C T 2: 50,063,613 (GRCm39) T40I probably benign Het
Nbeal1 A T 1: 60,311,380 (GRCm39) T1817S probably benign Het
Nub1 A C 5: 24,907,439 (GRCm39) Y350S possibly damaging Het
Pbp2 A G 6: 135,286,874 (GRCm39) Y158H possibly damaging Het
Ptpru C T 4: 131,515,688 (GRCm39) E827K possibly damaging Het
Rap1a A G 3: 105,653,252 (GRCm39) Y32H probably damaging Het
Raph1 T C 1: 60,527,832 (GRCm39) N1143S possibly damaging Het
Rbl1 T C 2: 157,003,353 (GRCm39) T859A probably benign Het
Rom1 A G 19: 8,906,188 (GRCm39) L117P probably damaging Het
Senp6 T C 9: 80,025,926 (GRCm39) probably benign Het
Sirpb1c T C 3: 15,886,240 (GRCm39) M379V probably benign Het
Slc6a4 C T 11: 76,910,062 (GRCm39) T439M probably damaging Het
Srsf12 G T 4: 33,230,929 (GRCm39) R141L probably damaging Het
Stk10 C T 11: 32,546,748 (GRCm39) P335L probably benign Het
Tcstv2c G A 13: 120,616,449 (GRCm39) S96N possibly damaging Het
Tecpr1 A T 5: 144,143,364 (GRCm39) N670K probably benign Het
Tgds T C 14: 118,370,119 (GRCm39) E8G probably benign Het
Tmem129 A G 5: 33,815,060 (GRCm39) S38P probably damaging Het
Trappc9 T C 15: 72,557,188 (GRCm39) E812G probably damaging Het
Trmt10b T A 4: 45,314,236 (GRCm39) probably benign Het
Wapl A G 14: 34,414,277 (GRCm39) T380A probably damaging Het
Xylt1 A T 7: 117,255,914 (GRCm39) T829S probably benign Het
Zc3h6 C T 2: 128,857,479 (GRCm39) P666L possibly damaging Het
Zfp1010 T C 2: 176,957,049 (GRCm39) T150A possibly damaging Het
Zfp703 C T 8: 27,469,233 (GRCm39) P299L probably damaging Het
Other mutations in Fbxw11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01475:Fbxw11 APN 11 32,672,101 (GRCm39) missense possibly damaging 0.94
IGL01828:Fbxw11 APN 11 32,670,505 (GRCm39) missense probably damaging 1.00
PIT4651001:Fbxw11 UTSW 11 32,661,999 (GRCm39) critical splice donor site probably null
R0311:Fbxw11 UTSW 11 32,672,083 (GRCm39) missense probably benign 0.00
R0331:Fbxw11 UTSW 11 32,661,895 (GRCm39) missense probably damaging 0.99
R0597:Fbxw11 UTSW 11 32,670,496 (GRCm39) missense probably damaging 1.00
R0989:Fbxw11 UTSW 11 32,685,149 (GRCm39) missense probably benign 0.17
R1175:Fbxw11 UTSW 11 32,661,922 (GRCm39) missense probably damaging 0.96
R1327:Fbxw11 UTSW 11 32,661,859 (GRCm39) missense probably benign 0.00
R1589:Fbxw11 UTSW 11 32,683,612 (GRCm39) missense probably damaging 1.00
R3155:Fbxw11 UTSW 11 32,689,244 (GRCm39) missense possibly damaging 0.93
R4084:Fbxw11 UTSW 11 32,689,248 (GRCm39) missense probably damaging 1.00
R4610:Fbxw11 UTSW 11 32,661,859 (GRCm39) missense possibly damaging 0.48
R4677:Fbxw11 UTSW 11 32,692,535 (GRCm39) nonsense probably null
R4694:Fbxw11 UTSW 11 32,592,820 (GRCm39) unclassified probably benign
R4946:Fbxw11 UTSW 11 32,689,226 (GRCm39) missense probably damaging 1.00
R5027:Fbxw11 UTSW 11 32,602,811 (GRCm39) intron probably benign
R5345:Fbxw11 UTSW 11 32,688,471 (GRCm39) missense probably damaging 1.00
R5459:Fbxw11 UTSW 11 32,689,191 (GRCm39) missense possibly damaging 0.85
R5820:Fbxw11 UTSW 11 32,685,374 (GRCm39) missense probably damaging 1.00
R6181:Fbxw11 UTSW 11 32,692,575 (GRCm39) missense probably benign
R6365:Fbxw11 UTSW 11 32,670,623 (GRCm39) missense possibly damaging 0.75
R6948:Fbxw11 UTSW 11 32,692,597 (GRCm39) missense probably damaging 0.98
R7251:Fbxw11 UTSW 11 32,681,370 (GRCm39) missense probably benign 0.00
R7475:Fbxw11 UTSW 11 32,661,999 (GRCm39) critical splice donor site probably null
R7893:Fbxw11 UTSW 11 32,670,489 (GRCm39) missense probably benign
R7970:Fbxw11 UTSW 11 32,672,101 (GRCm39) missense probably benign 0.00
R8121:Fbxw11 UTSW 11 32,670,646 (GRCm39) missense possibly damaging 0.78
R9730:Fbxw11 UTSW 11 32,688,395 (GRCm39) missense probably damaging 1.00
R9741:Fbxw11 UTSW 11 32,685,358 (GRCm39) missense probably damaging 1.00
X0064:Fbxw11 UTSW 11 32,661,859 (GRCm39) missense probably benign 0.00
Z1177:Fbxw11 UTSW 11 32,688,480 (GRCm39) missense probably null 1.00
Predicted Primers PCR Primer
(F):5'- GGCCCTCAATGCATTTTAATTGTG -3'
(R):5'- CCGTGAGAAGTGCAGTTACC -3'

Sequencing Primer
(F):5'- TTGTGTGATAAATGGATGAACAAAAG -3'
(R):5'- TGAGAAGTGCAGTTACCTACCTG -3'
Posted On 2016-12-15