Incidental Mutation 'R2187:Fbxo10'
ID |
237861 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fbxo10
|
Ensembl Gene |
ENSMUSG00000048232 |
Gene Name |
F-box protein 10 |
Synonyms |
LOC269529, FBX10 |
MMRRC Submission |
040189-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2187 (G1)
|
Quality Score |
217 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
45034248-45084604 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 45058531 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 402
(V402A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000058233
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052236]
|
AlphaFold |
Q7TQF2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000052236
AA Change: V402A
PolyPhen 2
Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000058233 Gene: ENSMUSG00000048232 AA Change: V402A
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: V228A
|
SMART Domains |
Protein: ENSMUSP00000119862 Gene: ENSMUSG00000048232 AA Change: V228A
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
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
Validation Efficiency |
|
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg1 |
T |
A |
17: 31,324,491 (GRCm39) |
S245R |
probably damaging |
Het |
AI597479 |
T |
A |
1: 43,139,983 (GRCm39) |
W70R |
probably damaging |
Het |
Ankrd55 |
A |
G |
13: 112,520,039 (GRCm39) |
S575G |
probably benign |
Het |
Bfsp2 |
T |
A |
9: 103,303,976 (GRCm39) |
K343* |
probably null |
Het |
Cant1 |
A |
T |
11: 118,299,667 (GRCm39) |
Y227* |
probably null |
Het |
Cd2bp2 |
T |
C |
7: 126,793,963 (GRCm39) |
N109D |
probably benign |
Het |
Chmp6 |
A |
G |
11: 119,807,562 (GRCm39) |
E135G |
possibly damaging |
Het |
Dsp |
T |
G |
13: 38,360,383 (GRCm39) |
S329R |
probably damaging |
Het |
Epha5 |
A |
T |
5: 84,234,223 (GRCm39) |
F767L |
probably damaging |
Het |
Epha7 |
A |
T |
4: 28,942,648 (GRCm39) |
T566S |
possibly damaging |
Het |
Erap1 |
A |
T |
13: 74,810,524 (GRCm39) |
I288F |
probably damaging |
Het |
Erich6 |
A |
G |
3: 58,537,266 (GRCm39) |
|
probably null |
Het |
Fndc1 |
T |
A |
17: 7,960,604 (GRCm39) |
I1604F |
probably damaging |
Het |
Foxd4 |
T |
G |
19: 24,877,219 (GRCm39) |
Q327P |
probably damaging |
Het |
Fxn |
T |
A |
19: 24,257,853 (GRCm39) |
N26I |
probably benign |
Het |
Hsf5 |
G |
T |
11: 87,529,010 (GRCm39) |
G582C |
possibly damaging |
Het |
Itga8 |
A |
G |
2: 12,199,231 (GRCm39) |
V522A |
possibly damaging |
Het |
Kplce |
A |
G |
3: 92,775,922 (GRCm39) |
S254P |
probably damaging |
Het |
Lyst |
C |
T |
13: 13,883,926 (GRCm39) |
T2938I |
possibly damaging |
Het |
Mib2 |
T |
C |
4: 155,739,390 (GRCm39) |
E863G |
possibly damaging |
Het |
Mrgpra9 |
A |
G |
7: 46,884,797 (GRCm39) |
F290S |
probably damaging |
Het |
Mst1 |
T |
C |
9: 107,961,539 (GRCm39) |
Y599H |
possibly damaging |
Het |
Mylk4 |
T |
C |
13: 32,905,996 (GRCm39) |
I165V |
probably damaging |
Het |
Nipsnap2 |
T |
C |
5: 129,823,537 (GRCm39) |
|
probably null |
Het |
Nol8 |
T |
C |
13: 49,815,475 (GRCm39) |
Y528H |
probably benign |
Het |
Nup93 |
T |
A |
8: 95,027,478 (GRCm39) |
S295R |
probably damaging |
Het |
Nutm2 |
A |
T |
13: 50,621,453 (GRCm39) |
Q6L |
probably benign |
Het |
Or2b6 |
A |
T |
13: 21,823,555 (GRCm39) |
I46N |
probably damaging |
Het |
Or5ak20 |
T |
G |
2: 85,184,259 (GRCm39) |
S4R |
probably benign |
Het |
Or5b12b |
T |
A |
19: 12,861,619 (GRCm39) |
C125S |
probably damaging |
Het |
Or6c33 |
A |
G |
10: 129,853,557 (GRCm39) |
E109G |
probably damaging |
Het |
Pip5k1a |
A |
T |
3: 94,979,229 (GRCm39) |
L189Q |
probably damaging |
Het |
Plekha4 |
C |
T |
7: 45,198,698 (GRCm39) |
R574C |
probably damaging |
Het |
Ppp2cb |
A |
G |
8: 34,100,705 (GRCm39) |
E42G |
possibly damaging |
Het |
Prkd3 |
T |
A |
17: 79,282,983 (GRCm39) |
Q244L |
probably benign |
Het |
Ptpn14 |
C |
T |
1: 189,595,425 (GRCm39) |
R1023* |
probably null |
Het |
Ptpra |
A |
G |
2: 130,346,219 (GRCm39) |
T127A |
probably benign |
Het |
Rad54l2 |
ACCTCCTCCTCCTCCTCCTCCTCCTC |
ACCTCCTCCTCCTCCTCCTCCTC |
9: 106,631,191 (GRCm39) |
|
probably benign |
Het |
Rasgrf1 |
T |
C |
9: 89,876,888 (GRCm39) |
I751T |
possibly damaging |
Het |
Rbm27 |
A |
G |
18: 42,459,022 (GRCm39) |
K697R |
probably damaging |
Het |
Rhoa |
C |
T |
9: 108,212,352 (GRCm39) |
T127M |
probably benign |
Het |
Rnpepl1 |
A |
G |
1: 92,844,617 (GRCm39) |
S370G |
probably null |
Het |
Sdk1 |
C |
T |
5: 142,100,329 (GRCm39) |
T1453I |
probably damaging |
Het |
Sel1l2 |
A |
G |
2: 140,072,793 (GRCm39) |
L614S |
probably damaging |
Het |
Slc6a20b |
T |
A |
9: 123,427,653 (GRCm39) |
I419F |
probably damaging |
Het |
Slc8a1 |
C |
T |
17: 81,955,982 (GRCm39) |
S352N |
possibly damaging |
Het |
Spta1 |
A |
G |
1: 174,020,532 (GRCm39) |
D547G |
probably damaging |
Het |
Tc2n |
G |
A |
12: 101,672,803 (GRCm39) |
T46I |
probably damaging |
Het |
Terb1 |
T |
A |
8: 105,199,516 (GRCm39) |
Y476F |
probably benign |
Het |
Trim12a |
T |
A |
7: 103,953,399 (GRCm39) |
E237D |
probably damaging |
Het |
Usp47 |
T |
C |
7: 111,666,398 (GRCm39) |
L309P |
probably 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 |
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'- CAGGTTCCGAAAGACGTTTCC -3'
(R):5'- AGTCTGTAGCTCTCCCAAGC -3'
Sequencing Primer
(F):5'- GAAAGACGTTTCCTTCCATCTTGG -3'
(R):5'- AGAGAGTGGCCCAGACTC -3'
|
Posted On |
2014-10-02 |