Incidental Mutation 'R1102:Fbxo10'
ID |
98157 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fbxo10
|
Ensembl Gene |
ENSMUSG00000048232 |
Gene Name |
F-box protein 10 |
Synonyms |
LOC269529, FBX10 |
MMRRC Submission |
039175-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1102 (G1)
|
Quality Score |
166 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
45034248-45084604 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 45043672 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 717
(L717P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000058233
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052236]
|
AlphaFold |
Q7TQF2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000052236
AA Change: L717P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000058233 Gene: ENSMUSG00000048232 AA Change: L717P
Domain | Start | End | E-Value | Type |
FBOX
|
6 |
48 |
1.92e-6 |
SMART |
PbH1
|
198 |
217 |
8.34e3 |
SMART |
PbH1
|
238 |
260 |
1.37e3 |
SMART |
CASH
|
337 |
511 |
7.29e-6 |
SMART |
PbH1
|
423 |
444 |
1.41e2 |
SMART |
PbH1
|
467 |
489 |
1.33e3 |
SMART |
PbH1
|
490 |
512 |
1.32e2 |
SMART |
PbH1
|
513 |
535 |
8.34e3 |
SMART |
PbH1
|
536 |
558 |
2.87e1 |
SMART |
CASH
|
536 |
672 |
5.49e1 |
SMART |
PbH1
|
559 |
581 |
1.25e1 |
SMART |
PbH1
|
582 |
604 |
2.64e2 |
SMART |
PbH1
|
605 |
627 |
6.05e3 |
SMART |
PbH1
|
628 |
650 |
2.46e2 |
SMART |
PbH1
|
651 |
673 |
2.14e2 |
SMART |
CASH
|
681 |
804 |
6.58e1 |
SMART |
PbH1
|
713 |
735 |
6.52e2 |
SMART |
PbH1
|
736 |
758 |
5.92e2 |
SMART |
PbH1
|
760 |
782 |
1.13e3 |
SMART |
PbH1
|
783 |
805 |
1.86e2 |
SMART |
PbH1
|
828 |
850 |
9.32e1 |
SMART |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000140008
AA Change: L543P
|
SMART Domains |
Protein: ENSMUSP00000119862 Gene: ENSMUSG00000048232 AA Change: L543P
Domain | Start | End | E-Value | Type |
PbH1
|
25 |
44 |
8.34e3 |
SMART |
PbH1
|
65 |
87 |
1.37e3 |
SMART |
CASH
|
164 |
338 |
7.29e-6 |
SMART |
PbH1
|
250 |
271 |
1.41e2 |
SMART |
PbH1
|
294 |
316 |
1.33e3 |
SMART |
PbH1
|
317 |
339 |
1.32e2 |
SMART |
PbH1
|
340 |
362 |
8.34e3 |
SMART |
PbH1
|
363 |
385 |
2.87e1 |
SMART |
CASH
|
363 |
499 |
5.49e1 |
SMART |
PbH1
|
386 |
408 |
1.25e1 |
SMART |
PbH1
|
409 |
431 |
2.64e2 |
SMART |
PbH1
|
432 |
454 |
6.05e3 |
SMART |
PbH1
|
455 |
477 |
2.46e2 |
SMART |
PbH1
|
478 |
500 |
2.14e2 |
SMART |
CASH
|
508 |
631 |
6.58e1 |
SMART |
PbH1
|
540 |
562 |
6.52e2 |
SMART |
PbH1
|
563 |
585 |
5.92e2 |
SMART |
PbH1
|
587 |
609 |
1.13e3 |
SMART |
PbH1
|
610 |
632 |
1.86e2 |
SMART |
PbH1
|
655 |
677 |
9.32e1 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155583
|
Meta Mutation Damage Score |
0.7246 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.3%
- 20x: 88.8%
|
Validation Efficiency |
98% (60/61) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the F-box protein family, such as FBXO10, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700010I14Rik |
C |
T |
17: 9,211,460 (GRCm39) |
T203M |
probably damaging |
Het |
Acy3 |
C |
T |
19: 4,037,850 (GRCm39) |
T119I |
probably damaging |
Het |
Ccdc6 |
C |
A |
10: 70,023,636 (GRCm39) |
H400Q |
possibly damaging |
Het |
Ccna1 |
T |
C |
3: 54,958,281 (GRCm39) |
D134G |
probably damaging |
Het |
Cct2 |
A |
T |
10: 116,896,545 (GRCm39) |
|
probably null |
Het |
Cd36 |
A |
G |
5: 18,019,211 (GRCm39) |
F170S |
possibly damaging |
Het |
Cep350 |
G |
A |
1: 155,807,264 (GRCm39) |
P718S |
probably damaging |
Het |
Cimip1 |
T |
A |
2: 173,364,516 (GRCm39) |
D20E |
probably damaging |
Het |
Ctnna3 |
A |
T |
10: 64,421,774 (GRCm39) |
I523L |
probably benign |
Het |
Dnah1 |
G |
T |
14: 31,018,414 (GRCm39) |
Y1405* |
probably null |
Het |
Dnah8 |
T |
A |
17: 31,073,738 (GRCm39) |
|
probably null |
Het |
Drd3 |
T |
C |
16: 43,582,846 (GRCm39) |
L113S |
probably damaging |
Het |
Emsy |
T |
C |
7: 98,251,796 (GRCm39) |
T735A |
probably damaging |
Het |
Epha5 |
A |
G |
5: 84,381,434 (GRCm39) |
|
probably benign |
Het |
Ezhip |
GTCATCATCATCATC |
GTCATCATCATCATCATC |
X: 5,994,645 (GRCm39) |
|
probably benign |
Het |
Galnt10 |
T |
C |
11: 57,671,871 (GRCm39) |
|
probably benign |
Het |
Gle1 |
T |
G |
2: 29,834,066 (GRCm39) |
I437M |
possibly damaging |
Het |
Gpr137b |
T |
C |
13: 13,539,616 (GRCm39) |
|
probably benign |
Het |
Gsta1 |
T |
C |
9: 78,149,777 (GRCm39) |
F197L |
probably damaging |
Het |
Icam1 |
G |
A |
9: 20,939,132 (GRCm39) |
V502M |
possibly damaging |
Het |
Ido1 |
T |
A |
8: 25,083,156 (GRCm39) |
I90F |
probably damaging |
Het |
Il4ra |
G |
A |
7: 125,173,889 (GRCm39) |
|
probably null |
Het |
Med12l |
T |
A |
3: 59,152,257 (GRCm39) |
M1014K |
probably damaging |
Het |
Mmp13 |
A |
G |
9: 7,272,952 (GRCm39) |
E104G |
possibly damaging |
Het |
Mms19 |
T |
C |
19: 41,939,284 (GRCm39) |
E495G |
possibly damaging |
Het |
Mrc2 |
A |
G |
11: 105,231,647 (GRCm39) |
I820V |
probably benign |
Het |
Naip6 |
T |
C |
13: 100,440,923 (GRCm39) |
K286E |
possibly damaging |
Het |
Ndrg1 |
T |
C |
15: 66,816,685 (GRCm39) |
Y110C |
probably damaging |
Het |
Or1e1c |
G |
A |
11: 73,265,700 (GRCm39) |
V45I |
probably benign |
Het |
Or4a78 |
A |
T |
2: 89,497,814 (GRCm39) |
C139S |
probably damaging |
Het |
Or5b118 |
T |
C |
19: 13,448,771 (GRCm39) |
C146R |
probably damaging |
Het |
Or5b3 |
G |
A |
19: 13,388,454 (GRCm39) |
V174M |
probably damaging |
Het |
Oxtr |
C |
T |
6: 112,454,138 (GRCm39) |
R42Q |
probably benign |
Het |
Pdzd4 |
G |
A |
X: 72,839,052 (GRCm39) |
R419C |
probably damaging |
Het |
Pnpla7 |
G |
T |
2: 24,886,177 (GRCm39) |
M3I |
probably damaging |
Het |
Popdc3 |
A |
G |
10: 45,192,642 (GRCm39) |
|
probably benign |
Het |
Ppp5c |
A |
G |
7: 16,756,368 (GRCm39) |
F112S |
probably benign |
Het |
Rbp3 |
A |
G |
14: 33,678,313 (GRCm39) |
T754A |
possibly damaging |
Het |
Reep6 |
A |
G |
10: 80,171,080 (GRCm39) |
T319A |
probably benign |
Het |
Rfx3 |
A |
G |
19: 27,845,000 (GRCm39) |
V43A |
possibly damaging |
Het |
Rint1 |
A |
G |
5: 24,010,565 (GRCm39) |
|
probably benign |
Het |
Sacm1l |
T |
G |
9: 123,411,363 (GRCm39) |
V384G |
probably damaging |
Het |
Shox2 |
A |
T |
3: 66,885,628 (GRCm39) |
L149Q |
probably damaging |
Het |
Sipa1 |
T |
C |
19: 5,702,782 (GRCm39) |
H805R |
probably benign |
Het |
Skic2 |
T |
C |
17: 35,059,082 (GRCm39) |
D1095G |
probably benign |
Het |
Slc5a3 |
G |
T |
16: 91,874,765 (GRCm39) |
W274L |
probably damaging |
Het |
Spata31e4 |
A |
G |
13: 50,857,118 (GRCm39) |
T919A |
probably benign |
Het |
Sptbn1 |
G |
T |
11: 30,070,785 (GRCm39) |
H1524Q |
possibly damaging |
Het |
Ssr1 |
G |
T |
13: 38,171,591 (GRCm39) |
Q149K |
probably benign |
Het |
Taf7l2 |
T |
C |
10: 115,949,299 (GRCm39) |
S76G |
probably damaging |
Het |
Thsd7a |
T |
C |
6: 12,555,701 (GRCm39) |
D61G |
possibly damaging |
Het |
Tmem245 |
T |
C |
4: 56,903,200 (GRCm39) |
|
probably benign |
Het |
Tmem74 |
T |
C |
15: 43,730,186 (GRCm39) |
T286A |
probably benign |
Het |
Tnc |
T |
C |
4: 63,938,705 (GRCm39) |
N45D |
probably benign |
Het |
Trdmt1 |
T |
G |
2: 13,528,225 (GRCm39) |
|
probably benign |
Het |
Uty |
A |
T |
Y: 1,174,741 (GRCm39) |
Y220N |
probably damaging |
Het |
Vdr |
T |
C |
15: 97,757,002 (GRCm39) |
Y290C |
probably damaging |
Het |
Vmn2r19 |
T |
A |
6: 123,313,132 (GRCm39) |
M734K |
probably benign |
Het |
Vmn2r53 |
T |
C |
7: 12,332,410 (GRCm39) |
D413G |
possibly damaging |
Het |
Vps45 |
A |
G |
3: 95,950,253 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Fbxo10 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00433:Fbxo10
|
APN |
4 |
45,058,684 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02073:Fbxo10
|
APN |
4 |
45,046,349 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL02097:Fbxo10
|
APN |
4 |
45,048,527 (GRCm39) |
missense |
probably benign |
0.24 |
IGL02315:Fbxo10
|
APN |
4 |
45,062,469 (GRCm39) |
missense |
probably benign |
0.08 |
IGL02403:Fbxo10
|
APN |
4 |
45,062,517 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02408:Fbxo10
|
APN |
4 |
45,058,361 (GRCm39) |
missense |
possibly damaging |
0.75 |
IGL02496:Fbxo10
|
APN |
4 |
45,043,883 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02583:Fbxo10
|
APN |
4 |
45,044,754 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02794:Fbxo10
|
APN |
4 |
45,041,928 (GRCm39) |
missense |
probably benign |
0.20 |
N/A - 287:Fbxo10
|
UTSW |
4 |
45,044,708 (GRCm39) |
splice site |
probably benign |
|
R1033:Fbxo10
|
UTSW |
4 |
45,062,236 (GRCm39) |
missense |
probably damaging |
1.00 |
R1583:Fbxo10
|
UTSW |
4 |
45,062,118 (GRCm39) |
missense |
probably damaging |
1.00 |
R1586:Fbxo10
|
UTSW |
4 |
45,042,036 (GRCm39) |
missense |
possibly damaging |
0.82 |
R1789:Fbxo10
|
UTSW |
4 |
45,046,389 (GRCm39) |
missense |
probably damaging |
1.00 |
R2187:Fbxo10
|
UTSW |
4 |
45,058,531 (GRCm39) |
missense |
probably benign |
0.09 |
R2191:Fbxo10
|
UTSW |
4 |
45,044,811 (GRCm39) |
missense |
probably damaging |
1.00 |
R2377:Fbxo10
|
UTSW |
4 |
45,044,719 (GRCm39) |
missense |
probably benign |
0.18 |
R2425:Fbxo10
|
UTSW |
4 |
45,051,642 (GRCm39) |
missense |
possibly damaging |
0.60 |
R2495:Fbxo10
|
UTSW |
4 |
45,040,545 (GRCm39) |
missense |
probably benign |
0.00 |
R4105:Fbxo10
|
UTSW |
4 |
45,059,054 (GRCm39) |
missense |
probably benign |
0.01 |
R4472:Fbxo10
|
UTSW |
4 |
45,043,693 (GRCm39) |
missense |
probably damaging |
1.00 |
R4480:Fbxo10
|
UTSW |
4 |
45,048,470 (GRCm39) |
missense |
probably damaging |
1.00 |
R4985:Fbxo10
|
UTSW |
4 |
45,040,692 (GRCm39) |
missense |
probably benign |
0.33 |
R5193:Fbxo10
|
UTSW |
4 |
45,051,573 (GRCm39) |
nonsense |
probably null |
|
R5309:Fbxo10
|
UTSW |
4 |
45,042,036 (GRCm39) |
missense |
possibly damaging |
0.82 |
R5312:Fbxo10
|
UTSW |
4 |
45,042,036 (GRCm39) |
missense |
possibly damaging |
0.82 |
R5348:Fbxo10
|
UTSW |
4 |
45,058,934 (GRCm39) |
missense |
probably damaging |
1.00 |
R5694:Fbxo10
|
UTSW |
4 |
45,035,970 (GRCm39) |
missense |
probably damaging |
1.00 |
R5844:Fbxo10
|
UTSW |
4 |
45,058,760 (GRCm39) |
missense |
probably benign |
0.09 |
R5974:Fbxo10
|
UTSW |
4 |
45,040,631 (GRCm39) |
missense |
probably benign |
0.18 |
R5990:Fbxo10
|
UTSW |
4 |
45,061,960 (GRCm39) |
missense |
probably damaging |
1.00 |
R6197:Fbxo10
|
UTSW |
4 |
45,043,857 (GRCm39) |
missense |
probably benign |
0.03 |
R6359:Fbxo10
|
UTSW |
4 |
45,041,796 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6808:Fbxo10
|
UTSW |
4 |
45,059,035 (GRCm39) |
missense |
probably benign |
0.00 |
R6873:Fbxo10
|
UTSW |
4 |
45,041,787 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6921:Fbxo10
|
UTSW |
4 |
45,044,849 (GRCm39) |
missense |
probably damaging |
1.00 |
R7089:Fbxo10
|
UTSW |
4 |
45,062,230 (GRCm39) |
missense |
possibly damaging |
0.90 |
R7120:Fbxo10
|
UTSW |
4 |
45,040,533 (GRCm39) |
nonsense |
probably null |
|
R7498:Fbxo10
|
UTSW |
4 |
45,062,194 (GRCm39) |
missense |
probably benign |
0.04 |
R7872:Fbxo10
|
UTSW |
4 |
45,051,699 (GRCm39) |
missense |
not run |
|
R8022:Fbxo10
|
UTSW |
4 |
45,062,062 (GRCm39) |
missense |
possibly damaging |
0.93 |
R8161:Fbxo10
|
UTSW |
4 |
45,044,793 (GRCm39) |
missense |
probably damaging |
1.00 |
R8416:Fbxo10
|
UTSW |
4 |
45,058,942 (GRCm39) |
missense |
possibly damaging |
0.83 |
R8419:Fbxo10
|
UTSW |
4 |
45,041,809 (GRCm39) |
missense |
possibly damaging |
0.72 |
R8744:Fbxo10
|
UTSW |
4 |
45,043,880 (GRCm39) |
missense |
probably benign |
|
R8798:Fbxo10
|
UTSW |
4 |
45,051,605 (GRCm39) |
missense |
possibly damaging |
0.47 |
R8887:Fbxo10
|
UTSW |
4 |
45,058,887 (GRCm39) |
missense |
probably benign |
|
R9273:Fbxo10
|
UTSW |
4 |
45,062,178 (GRCm39) |
missense |
probably benign |
|
R9548:Fbxo10
|
UTSW |
4 |
45,058,970 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GTCTGACTCAGGGCACAAATCCAAG -3'
(R):5'- TATGGAGTGGCAGTGTTCAGCCAG -3'
Sequencing Primer
(F):5'- GTAACTTAGAAAGTCCTCCTCGGTG -3'
(R):5'- GAAAGATGGCGAGTTCCCTG -3'
|
Posted On |
2014-01-05 |