Incidental Mutation 'IGL02149:Fbxo11'
ID281903
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fbxo11
Ensembl Gene ENSMUSG00000005371
Gene NameF-box protein 11
SynonymsJf, GENA 104
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02149
Quality Score
Status
Chromosome17
Chromosomal Location87990859-88065291 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 87993759 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Serine at position 775 (R775S)
Ref Sequence ENSEMBL: ENSMUSP00000005504 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005503] [ENSMUST00000005504]
Predicted Effect probably benign
Transcript: ENSMUST00000005503
SMART Domains Protein: ENSMUSP00000005503
Gene: ENSMUSG00000005370

DomainStartEndE-ValueType
low complexity region 23 46 N/A INTRINSIC
low complexity region 76 87 N/A INTRINSIC
PWWP 90 152 9.01e-30 SMART
low complexity region 198 212 N/A INTRINSIC
low complexity region 216 230 N/A INTRINSIC
low complexity region 239 264 N/A INTRINSIC
low complexity region 273 291 N/A INTRINSIC
low complexity region 373 389 N/A INTRINSIC
Pfam:MutS_I 406 525 4.7e-35 PFAM
Pfam:MutS_II 536 700 1.4e-10 PFAM
MUTSd 750 1100 4.56e-86 SMART
MUTSac 1125 1319 1.68e-116 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000005504
AA Change: R775S

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000005504
Gene: ENSMUSG00000005371
AA Change: R775S

DomainStartEndE-ValueType
low complexity region 2 20 N/A INTRINSIC
low complexity region 21 73 N/A INTRINSIC
FBOX 162 202 2.44e-8 SMART
PbH1 398 420 1.37e3 SMART
PbH1 421 443 8.83e0 SMART
CASH 421 557 1.31e-7 SMART
PbH1 444 466 6.15e1 SMART
PbH1 467 489 1.78e3 SMART
PbH1 490 512 2.29e2 SMART
PbH1 513 535 7.67e2 SMART
PbH1 536 558 1.36e0 SMART
PbH1 559 581 3.59e0 SMART
CASH 573 695 2.35e0 SMART
PbH1 582 604 8.73e2 SMART
PbH1 605 627 4.28e2 SMART
PbH1 628 650 5.03e2 SMART
PbH1 651 673 3.79e1 SMART
PbH1 674 696 4.73e0 SMART
PbH1 697 719 1.86e2 SMART
CASH 711 840 9.31e-13 SMART
PbH1 720 742 2.91e0 SMART
PbH1 743 765 3.73e2 SMART
PbH1 766 788 1.62e2 SMART
PbH1 789 811 9.99e1 SMART
PbH1 812 833 1.21e3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127334
Predicted Effect unknown
Transcript: ENSMUST00000130379
AA Change: R699S
SMART Domains Protein: ENSMUSP00000121206
Gene: ENSMUSG00000005371
AA Change: R699S

DomainStartEndE-ValueType
FBOX 87 127 2.44e-8 SMART
PbH1 323 345 1.37e3 SMART
PbH1 346 368 8.83e0 SMART
CASH 346 482 1.31e-7 SMART
PbH1 369 391 6.15e1 SMART
PbH1 392 414 1.78e3 SMART
PbH1 415 437 2.29e2 SMART
PbH1 438 460 7.67e2 SMART
PbH1 461 483 1.36e0 SMART
PbH1 484 506 3.59e0 SMART
CASH 498 620 2.35e0 SMART
PbH1 507 529 8.73e2 SMART
PbH1 530 552 4.28e2 SMART
PbH1 553 575 5.03e2 SMART
PbH1 576 598 3.79e1 SMART
PbH1 599 621 4.73e0 SMART
PbH1 622 644 1.86e2 SMART
CASH 636 765 9.31e-13 SMART
PbH1 645 667 2.91e0 SMART
PbH1 668 690 3.73e2 SMART
PbH1 691 713 1.62e2 SMART
PbH1 714 736 9.99e1 SMART
PbH1 737 758 1.21e3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000135639
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 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 Fbxs class. It can function as an arginine methyltransferase that symmetrically dimethylates arginine residues, and it acts as an adaptor protein to mediate the neddylation of p53, which leads to the suppression of p53 function. This gene is known to be down-regulated in melanocytes from patients with vitiligo, a skin disorder that results in depigmentation. Polymorphisms in this gene are associated with chronic otitis media with effusion and recurrent otitis media (COME/ROM), a hearing loss disorder, and the knockout of the homologous mouse gene results in the deaf mouse mutant Jeff (Jf), a single gene model of otitis media. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jun 2010]
PHENOTYPE: Mice homozygous for ENU-induced mutations exhibit cleft palate, facial clefting, and perinatal lethality. Mice homozygous for a knock-out allele show neonatal lethality, thick epidermis, decreased hair follicle number, absent keratohyalin granules, and increased epidermal Snail protein levels. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam10 A T 9: 70,703,431 H67L probably damaging Het
Adgrb1 C T 15: 74,540,477 T435I probably damaging Het
Adgrd1 T A 5: 129,179,261 F652Y probably damaging Het
Adgrl4 T A 3: 151,500,354 F250Y possibly damaging Het
Aebp2 C T 6: 140,642,284 A360V probably benign Het
AW551984 A C 9: 39,592,924 M582R probably benign Het
B430306N03Rik T C 17: 48,316,992 V107A probably benign Het
Cage1 T C 13: 38,022,529 N447D probably damaging Het
Col17a1 T C 19: 47,668,632 D524G probably benign Het
Dpp6 A T 5: 27,538,024 I218F probably benign Het
Ep300 T G 15: 81,628,420 probably benign Het
Ephb2 C T 4: 136,693,914 C375Y probably damaging Het
Fastk A G 5: 24,444,053 V112A probably damaging Het
Fbxw20 A G 9: 109,233,818 probably null Het
Hamp2 G T 7: 30,922,697 A50E probably damaging Het
Iltifb C A 10: 118,294,997 probably benign Het
Ints1 G A 5: 139,751,960 R2139C probably damaging Het
Itgae T A 11: 73,103,894 V24E probably benign Het
Jakmip3 G A 7: 139,007,346 V60M possibly damaging Het
Kcnk10 A C 12: 98,518,840 probably benign Het
Klra1 A T 6: 130,375,330 C150S probably damaging Het
Lhx9 A T 1: 138,831,434 V376E probably damaging Het
Mdm1 T A 10: 118,148,065 F199I probably damaging Het
Nipal3 G T 4: 135,466,852 T290K possibly damaging Het
Obsl1 C T 1: 75,503,820 E387K probably damaging Het
Olfr902 A G 9: 38,449,397 H175R probably damaging Het
Oxct1 A G 15: 4,091,229 Y265C probably damaging Het
Pccb G A 9: 100,985,190 H411Y probably damaging Het
Pkp1 A G 1: 135,886,747 S279P probably benign Het
Prdm14 C A 1: 13,125,439 G133C probably benign Het
Prkaa2 A T 4: 105,040,088 N309K probably benign Het
Shc2 T C 10: 79,622,268 D527G probably damaging Het
Shkbp1 C T 7: 27,342,639 probably benign Het
Skil T C 3: 31,097,707 V126A possibly damaging Het
Slc25a36 A T 9: 97,093,069 probably benign Het
Slc2a13 T C 15: 91,343,721 T423A probably benign Het
Spty2d1 A G 7: 47,008,144 probably benign Het
Stag1 A G 9: 100,887,389 D519G probably benign Het
Tmprss2 G T 16: 97,599,279 probably benign Het
Trim66 G T 7: 109,460,902 T759K possibly damaging Het
Trpc4ap C A 2: 155,639,547 A530S probably damaging Het
Ttn A T 2: 76,811,755 D11625E probably damaging Het
Ube4b T C 4: 149,398,684 I42M possibly damaging Het
Ubxn10 A G 4: 138,721,273 S31P probably benign Het
Ubxn7 A G 16: 32,375,270 Y220C probably damaging Het
Vmn1r234 A G 17: 21,229,007 Y61C probably benign Het
Other mutations in Fbxo11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01564:Fbxo11 APN 17 88002896 missense probably benign 0.02
IGL01908:Fbxo11 APN 17 87992300 missense probably benign 0.10
IGL02012:Fbxo11 APN 17 88012651 missense probably benign 0.00
IGL02223:Fbxo11 APN 17 88009286 missense probably benign 0.03
IGL02586:Fbxo11 APN 17 88011283 unclassified probably benign
IGL03265:Fbxo11 APN 17 87992831 missense probably damaging 1.00
R0184:Fbxo11 UTSW 17 88008673 missense probably benign 0.19
R0335:Fbxo11 UTSW 17 88015613 missense possibly damaging 0.90
R0918:Fbxo11 UTSW 17 87997603 missense probably damaging 1.00
R1658:Fbxo11 UTSW 17 88012658 missense probably benign 0.01
R3725:Fbxo11 UTSW 17 88009286 missense probably benign 0.03
R4194:Fbxo11 UTSW 17 88009108 missense possibly damaging 0.94
R4884:Fbxo11 UTSW 17 87992333 missense probably damaging 0.99
R4902:Fbxo11 UTSW 17 88065274 unclassified probably benign
R5651:Fbxo11 UTSW 17 88015708 missense probably benign 0.01
R6137:Fbxo11 UTSW 17 88008669 missense probably benign 0.00
R6217:Fbxo11 UTSW 17 88008904 missense probably benign 0.00
R6482:Fbxo11 UTSW 17 88012658 missense probably benign 0.01
R7383:Fbxo11 UTSW 17 88002854 missense
R7813:Fbxo11 UTSW 17 88000817 missense
R7823:Fbxo11 UTSW 17 87993182 missense probably damaging 0.98
R7914:Fbxo11 UTSW 17 88012603 missense
RF002:Fbxo11 UTSW 17 87996053 missense
X0060:Fbxo11 UTSW 17 87992306 missense probably damaging 1.00
Posted On2015-04-16