Incidental Mutation 'R4194:Fbxo11'
| ID |
318508 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbxo11
|
| Ensembl Gene |
ENSMUSG00000005371 |
| Gene Name |
F-box protein 11 |
| Synonyms |
GENA 104, Jf |
| MMRRC Submission |
041025-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4194 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
88298287-88372719 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 88316536 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 279
(D279G)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005504]
|
| AlphaFold |
Q7TPD1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000005504
AA Change: D355G
PolyPhen 2
Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000005504
Gene: ENSMUSG00000005371
AA Change: D355G
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
possibly damaging
Transcript: ENSMUST00000130379
AA Change: D279G
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000121206
Gene: ENSMUSG00000005371
AA Change: D279G
| Domain | Start | End | E-Value | Type |
|---|
|
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
|
| Meta Mutation Damage Score |
0.0995 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
98% (54/55) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl1 |
A |
T |
4: 85,972,245 (GRCm39) |
|
probably benign |
Het |
| Adgrv1 |
C |
A |
13: 81,647,115 (GRCm39) |
V3142F |
probably damaging |
Het |
| Alms1 |
C |
T |
6: 85,654,972 (GRCm39) |
Q3173* |
probably null |
Het |
| Ankrd26 |
A |
G |
6: 118,500,639 (GRCm39) |
F944S |
probably benign |
Het |
| Arhgap11a |
G |
T |
2: 113,672,339 (GRCm39) |
H210N |
probably benign |
Het |
| Brca1 |
T |
C |
11: 101,416,113 (GRCm39) |
N674D |
probably benign |
Het |
| Bud13 |
T |
A |
9: 46,209,793 (GRCm39) |
V634E |
probably damaging |
Het |
| Capn13 |
C |
T |
17: 73,646,479 (GRCm39) |
M311I |
possibly damaging |
Het |
| Cdyl2 |
T |
C |
8: 117,305,903 (GRCm39) |
|
probably null |
Het |
| Celsr3 |
T |
C |
9: 108,720,501 (GRCm39) |
|
probably null |
Het |
| Col6a5 |
C |
G |
9: 105,823,113 (GRCm39) |
E81D |
unknown |
Het |
| Ctbs |
C |
A |
3: 146,156,368 (GRCm39) |
H38N |
probably benign |
Het |
| Ctnnd1 |
T |
C |
2: 84,434,045 (GRCm39) |
D897G |
possibly damaging |
Het |
| Cyp2d41-ps |
T |
C |
15: 82,666,154 (GRCm39) |
|
noncoding transcript |
Het |
| Dnttip2 |
G |
A |
3: 122,074,410 (GRCm39) |
E616K |
probably damaging |
Het |
| Epb41l5 |
A |
T |
1: 119,535,823 (GRCm39) |
S348R |
probably damaging |
Het |
| Fam185a |
A |
G |
5: 21,630,452 (GRCm39) |
H96R |
probably benign |
Het |
| Gm3952 |
C |
A |
8: 129,486,346 (GRCm39) |
G1578V |
probably damaging |
Het |
| Grb7 |
T |
A |
11: 98,345,881 (GRCm39) |
|
probably benign |
Het |
| Grik1 |
A |
G |
16: 87,743,616 (GRCm39) |
V537A |
probably benign |
Het |
| H2-Eb2 |
T |
A |
17: 34,552,300 (GRCm39) |
N48K |
probably benign |
Het |
| Kank3 |
A |
G |
17: 34,041,237 (GRCm39) |
|
probably benign |
Het |
| Kifap3 |
T |
C |
1: 163,743,394 (GRCm39) |
S792P |
probably benign |
Het |
| Klhl35 |
A |
T |
7: 99,123,058 (GRCm39) |
|
probably null |
Het |
| Lpxn |
T |
C |
19: 12,810,599 (GRCm39) |
F348L |
probably damaging |
Het |
| Mef2d |
A |
G |
3: 88,065,610 (GRCm39) |
Y114C |
possibly damaging |
Het |
| Mfap3 |
T |
A |
11: 57,420,529 (GRCm39) |
L170H |
probably damaging |
Het |
| Mical1 |
C |
G |
10: 41,357,624 (GRCm39) |
F410L |
possibly damaging |
Het |
| Mppe1 |
G |
A |
18: 67,361,139 (GRCm39) |
S206F |
probably benign |
Het |
| Myo9b |
C |
T |
8: 71,812,268 (GRCm39) |
A2013V |
possibly damaging |
Het |
| Phactr3 |
T |
C |
2: 177,924,902 (GRCm39) |
V243A |
possibly damaging |
Het |
| Ppp4r4 |
T |
C |
12: 103,524,704 (GRCm39) |
L92P |
probably damaging |
Het |
| Prss59 |
A |
T |
6: 40,898,005 (GRCm39) |
V226E |
probably damaging |
Het |
| Rap1gds1 |
C |
T |
3: 138,664,851 (GRCm39) |
D236N |
probably damaging |
Het |
| Rnf8 |
T |
C |
17: 29,850,642 (GRCm39) |
|
probably benign |
Het |
| Rpl31-ps17 |
C |
T |
12: 54,748,434 (GRCm39) |
|
noncoding transcript |
Het |
| Sfta2 |
T |
C |
17: 35,939,057 (GRCm39) |
|
probably null |
Het |
| Sipa1l2 |
T |
A |
8: 126,218,411 (GRCm39) |
T309S |
probably benign |
Het |
| Sos1 |
T |
C |
17: 80,706,013 (GRCm39) |
D1186G |
probably benign |
Het |
| Sptb |
C |
A |
12: 76,659,784 (GRCm39) |
V1039F |
probably benign |
Het |
| Sycp3 |
T |
C |
10: 88,299,237 (GRCm39) |
V68A |
probably benign |
Het |
| Tas1r3 |
T |
C |
4: 155,947,442 (GRCm39) |
E81G |
probably damaging |
Het |
| Ttc3 |
G |
A |
16: 94,223,136 (GRCm39) |
R253H |
probably damaging |
Het |
| Ugt1a7c |
A |
G |
1: 88,023,449 (GRCm39) |
T203A |
possibly damaging |
Het |
| Vtcn1 |
A |
T |
3: 100,795,525 (GRCm39) |
E164V |
probably damaging |
Het |
| Zan |
T |
C |
5: 137,461,817 (GRCm39) |
T1121A |
unknown |
Het |
| Zfp473 |
T |
C |
7: 44,381,676 (GRCm39) |
I885V |
probably benign |
Het |
| Zfp990 |
A |
T |
4: 145,263,547 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Fbxo11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01564:Fbxo11
|
APN |
17 |
88,310,324 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01908:Fbxo11
|
APN |
17 |
88,299,728 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL02012:Fbxo11
|
APN |
17 |
88,320,079 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02149:Fbxo11
|
APN |
17 |
88,301,187 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL02223:Fbxo11
|
APN |
17 |
88,316,714 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02586:Fbxo11
|
APN |
17 |
88,318,711 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03265:Fbxo11
|
APN |
17 |
88,300,259 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Gravlachs
|
UTSW |
17 |
88,304,957 (GRCm39) |
missense |
|
|
|
R0184:Fbxo11
|
UTSW |
17 |
88,316,101 (GRCm39) |
missense |
probably benign |
0.19 |
|
R0335:Fbxo11
|
UTSW |
17 |
88,323,041 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0918:Fbxo11
|
UTSW |
17 |
88,305,031 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1658:Fbxo11
|
UTSW |
17 |
88,320,086 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3725:Fbxo11
|
UTSW |
17 |
88,316,714 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4884:Fbxo11
|
UTSW |
17 |
88,299,761 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4902:Fbxo11
|
UTSW |
17 |
88,372,702 (GRCm39) |
unclassified |
probably benign |
|
|
R5651:Fbxo11
|
UTSW |
17 |
88,323,136 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6137:Fbxo11
|
UTSW |
17 |
88,316,097 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6217:Fbxo11
|
UTSW |
17 |
88,316,332 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6482:Fbxo11
|
UTSW |
17 |
88,320,086 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7383:Fbxo11
|
UTSW |
17 |
88,310,282 (GRCm39) |
missense |
|
|
|
R7813:Fbxo11
|
UTSW |
17 |
88,308,245 (GRCm39) |
missense |
|
|
|
R7823:Fbxo11
|
UTSW |
17 |
88,300,610 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7914:Fbxo11
|
UTSW |
17 |
88,320,031 (GRCm39) |
missense |
|
|
|
R8835:Fbxo11
|
UTSW |
17 |
88,321,874 (GRCm39) |
missense |
|
|
|
R8882:Fbxo11
|
UTSW |
17 |
88,304,957 (GRCm39) |
missense |
|
|
|
R8883:Fbxo11
|
UTSW |
17 |
88,305,044 (GRCm39) |
missense |
|
|
|
R9056:Fbxo11
|
UTSW |
17 |
88,310,249 (GRCm39) |
missense |
|
|
|
R9223:Fbxo11
|
UTSW |
17 |
88,323,124 (GRCm39) |
missense |
|
|
|
R9239:Fbxo11
|
UTSW |
17 |
88,316,522 (GRCm39) |
missense |
|
|
|
R9574:Fbxo11
|
UTSW |
17 |
88,321,951 (GRCm39) |
missense |
|
|
|
R9616:Fbxo11
|
UTSW |
17 |
88,316,098 (GRCm39) |
missense |
|
|
|
R9639:Fbxo11
|
UTSW |
17 |
88,316,107 (GRCm39) |
missense |
|
|
|
R9687:Fbxo11
|
UTSW |
17 |
88,316,494 (GRCm39) |
missense |
|
|
|
RF002:Fbxo11
|
UTSW |
17 |
88,303,481 (GRCm39) |
missense |
|
|
|
X0060:Fbxo11
|
UTSW |
17 |
88,299,734 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCGACGTTTTCACAGTCACTG -3'
(R):5'- TGAGAACACTAGAGATTCGACCTTC -3'
Sequencing Primer
(F):5'- CACAGTCACTGATGTTACAATGC -3'
(R):5'- ACCTTCGTGTTCATGGAAGGCTC -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation