Incidental Mutation 'R6921:Fbxo10'
ID |
539627 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fbxo10
|
Ensembl Gene |
ENSMUSG00000048232 |
Gene Name |
F-box protein 10 |
Synonyms |
LOC269529, FBX10 |
MMRRC Submission |
045006-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6921 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
45034248-45084604 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 45044849 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 595
(N595K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000058233
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052236]
|
AlphaFold |
Q7TQF2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000052236
AA Change: N595K
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000058233 Gene: ENSMUSG00000048232 AA Change: N595K
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 |
|
SMART Domains |
Protein: ENSMUSP00000119862 Gene: ENSMUSG00000048232 AA Change: N421K
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.8%
- 10x: 98.9%
- 20x: 96.4%
|
Validation Efficiency |
96% (46/48) |
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700017B05Rik |
A |
T |
9: 57,166,019 (GRCm39) |
H118Q |
probably damaging |
Het |
Adgrl3 |
T |
G |
5: 81,796,560 (GRCm39) |
V623G |
probably damaging |
Het |
B9d2 |
A |
G |
7: 25,385,442 (GRCm39) |
D84G |
probably damaging |
Het |
Clec1a |
A |
T |
6: 129,405,827 (GRCm39) |
L268H |
probably damaging |
Het |
Copa |
A |
T |
1: 171,939,491 (GRCm39) |
N576I |
possibly damaging |
Het |
Cyp11b1 |
T |
C |
15: 74,712,798 (GRCm39) |
T88A |
probably benign |
Het |
Dis3l2 |
T |
C |
1: 86,785,063 (GRCm39) |
I318T |
probably benign |
Het |
Dmtf1 |
T |
C |
5: 9,180,654 (GRCm39) |
|
probably benign |
Het |
Dnah17 |
C |
A |
11: 117,932,310 (GRCm39) |
A3639S |
probably damaging |
Het |
Dnajc8 |
T |
A |
4: 132,272,031 (GRCm39) |
I89N |
probably damaging |
Het |
Dync2h1 |
T |
A |
9: 7,102,549 (GRCm39) |
H377L |
probably benign |
Het |
Erfe |
T |
A |
1: 91,298,054 (GRCm39) |
I212N |
probably benign |
Het |
Fam117b |
A |
G |
1: 59,992,094 (GRCm39) |
T248A |
probably damaging |
Het |
Fzd10 |
T |
A |
5: 128,678,646 (GRCm39) |
M122K |
probably damaging |
Het |
Gpr15 |
C |
T |
16: 58,538,144 (GRCm39) |
R315H |
probably benign |
Het |
Gvin2 |
G |
A |
7: 105,551,187 (GRCm39) |
Q622* |
probably null |
Het |
H6pd |
T |
C |
4: 150,066,508 (GRCm39) |
D626G |
probably damaging |
Het |
Hexd |
A |
G |
11: 121,113,107 (GRCm39) |
D514G |
probably damaging |
Het |
Hoxd4 |
T |
C |
2: 74,558,836 (GRCm39) |
S220P |
possibly damaging |
Het |
Invs |
A |
G |
4: 48,396,260 (GRCm39) |
H311R |
possibly damaging |
Het |
Ip6k1 |
A |
G |
9: 107,901,634 (GRCm39) |
T70A |
probably damaging |
Het |
Lipt2 |
T |
C |
7: 99,809,578 (GRCm39) |
C222R |
probably damaging |
Het |
Lrrc3 |
T |
A |
10: 77,736,866 (GRCm39) |
D190V |
probably damaging |
Het |
Marchf10 |
T |
C |
11: 105,280,603 (GRCm39) |
T561A |
probably benign |
Het |
Mcm10 |
G |
A |
2: 5,005,746 (GRCm39) |
T463I |
probably benign |
Het |
Mideas |
A |
G |
12: 84,203,233 (GRCm39) |
S890P |
probably damaging |
Het |
Mmel1 |
T |
C |
4: 154,966,134 (GRCm39) |
L52P |
probably damaging |
Het |
Nipbl |
T |
C |
15: 8,332,969 (GRCm39) |
N2218S |
probably benign |
Het |
Nr4a3 |
C |
T |
4: 48,051,486 (GRCm39) |
P80L |
probably benign |
Het |
Nrip1 |
C |
T |
16: 76,089,476 (GRCm39) |
G694R |
possibly damaging |
Het |
Oit3 |
A |
T |
10: 59,271,767 (GRCm39) |
C197S |
probably damaging |
Het |
Or5al1 |
C |
T |
2: 85,990,196 (GRCm39) |
V173M |
probably benign |
Het |
Or8b1b |
A |
G |
9: 38,375,543 (GRCm39) |
I69V |
probably benign |
Het |
Otol1 |
A |
G |
3: 69,935,433 (GRCm39) |
E475G |
possibly damaging |
Het |
Pes1 |
T |
C |
11: 3,923,330 (GRCm39) |
F168L |
probably damaging |
Het |
Plch1 |
C |
T |
3: 63,615,155 (GRCm39) |
R780H |
possibly damaging |
Het |
Pxdn |
C |
G |
12: 30,065,504 (GRCm39) |
P1275A |
probably damaging |
Het |
Sgcz |
T |
C |
8: 37,993,443 (GRCm39) |
E218G |
probably damaging |
Het |
Slc27a5 |
A |
T |
7: 12,725,135 (GRCm39) |
N437K |
probably damaging |
Het |
Sult2b1 |
A |
G |
7: 45,384,612 (GRCm39) |
S155P |
probably damaging |
Het |
Tgfbrap1 |
T |
C |
1: 43,091,056 (GRCm39) |
M690V |
probably benign |
Het |
Tmem151a |
A |
T |
19: 5,133,119 (GRCm39) |
L29Q |
probably damaging |
Het |
Tmprss2 |
A |
G |
16: 97,369,637 (GRCm39) |
I379T |
probably damaging |
Het |
Vmn1r168 |
T |
A |
7: 23,240,323 (GRCm39) |
V60E |
probably damaging |
Het |
Vmn2r73 |
A |
C |
7: 85,507,446 (GRCm39) |
V622G |
probably benign |
Het |
Wdr72 |
A |
G |
9: 74,117,928 (GRCm39) |
H880R |
probably benign |
Het |
Zfhx3 |
A |
G |
8: 109,678,024 (GRCm39) |
T3025A |
possibly damaging |
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 |
R1102:Fbxo10
|
UTSW |
4 |
45,043,672 (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 |
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'- CTTGTCAGAACCCACTAGTCAGAG -3'
(R):5'- AAAGCCAGTGGGTGAGCATC -3'
Sequencing Primer
(F):5'- TGACACCTGGGCTCTGTG -3'
(R):5'- TGAGCATCAGGGTGCTAGC -3'
|
Posted On |
2018-11-06 |