Incidental Mutation 'IGL02586:Fbxo11'
ID299563
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 #IGL02586
Quality Score
Status
Chromosome17
Chromosomal Location87990859-88065291 bp(-) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) C to T at 88011283 bp
ZygosityHeterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000005504]
Predicted Effect probably benign
Transcript: ENSMUST00000005504
SMART Domains Protein: ENSMUSP00000005504
Gene: ENSMUSG00000005371

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 probably benign
Transcript: ENSMUST00000130379
SMART Domains Protein: ENSMUSP00000121206
Gene: ENSMUSG00000005371

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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik G A 3: 37,044,608 W4626* probably null Het
Abca13 A G 11: 9,293,983 I1949V possibly damaging Het
Anapc2 T A 2: 25,285,096 M742K probably benign Het
Arhgef12 T A 9: 43,005,904 K380* probably null Het
Armc1 G T 3: 19,134,028 probably benign Het
Diaph3 A T 14: 86,986,076 L323* probably null Het
Flywch1 C T 17: 23,755,702 A655T probably benign Het
Frmpd1 A G 4: 45,285,160 D1327G probably damaging Het
Ggact G A 14: 122,891,530 T91I possibly damaging Het
Gm10250 T A 15: 5,120,930 probably benign Het
Gsdmc4 T C 15: 63,893,792 S303G probably damaging Het
Helt T C 8: 46,293,239 E15G probably damaging Het
Kcnf1 T A 12: 17,176,143 S26C probably benign Het
Lilra6 T C 7: 3,908,820 T280A probably benign Het
Lipo3 A T 19: 33,582,139 D110E possibly damaging Het
Mepe C A 5: 104,337,450 T152N probably benign Het
Nr2f1 C A 13: 78,195,156 probably benign Het
Olfr807 A G 10: 129,754,655 I265T possibly damaging Het
Olfr994 T C 2: 85,430,466 D121G possibly damaging Het
Peg3 T C 7: 6,710,069 D718G probably benign Het
Phf2 A T 13: 48,813,858 probably benign Het
Pigc A T 1: 161,970,934 I162F probably benign Het
Raf1 A G 6: 115,620,306 L11P probably damaging Het
Rlf T C 4: 121,150,064 Y573C probably damaging Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Rnf149 T G 1: 39,565,215 Q189P probably benign Het
Slc11a1 T C 1: 74,385,132 probably benign Het
Slc22a12 C T 19: 6,540,457 M234I probably benign Het
Slc28a1 A T 7: 81,164,419 I455F probably benign Het
Slc35f5 T G 1: 125,584,536 L358V probably damaging Het
Slc47a1 A T 11: 61,344,321 V562D probably benign Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Ushbp1 T C 8: 71,388,750 probably benign Het
Vmn1r88 T A 7: 13,177,808 Y30* probably null Het
Vmn2r27 A T 6: 124,224,475 Y174* probably null Het
Wwox T C 8: 114,712,207 Y338H possibly damaging Het
Zfp518a G A 19: 40,914,617 G997R probably damaging Het
Zufsp A T 10: 33,935,265 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
IGL02149:Fbxo11 APN 17 87993759 missense possibly damaging 0.85
IGL02223:Fbxo11 APN 17 88009286 missense probably benign 0.03
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
RF002:Fbxo11 UTSW 17 87996053 missense
X0060:Fbxo11 UTSW 17 87992306 missense probably damaging 1.00
Posted On2015-04-16