Incidental Mutation 'R6197:Fbxo10'
| ID |
502968 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbxo10
|
| Ensembl Gene |
ENSMUSG00000048232 |
| Gene Name |
F-box protein 10 |
| Synonyms |
LOC269529, FBX10 |
| MMRRC Submission |
044337-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6197 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
45034248-45084604 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 45043857 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 655
(H655Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058233
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052236]
|
| AlphaFold |
Q7TQF2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000052236
AA Change: H655Q
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000058233
Gene: ENSMUSG00000048232
AA Change: H655Q
| 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: H481Q
|
| SMART Domains |
Protein: ENSMUSP00000119862
Gene: ENSMUSG00000048232
AA Change: H481Q
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
92% (49/53) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700109H08Rik |
T |
A |
5: 3,630,442 (GRCm39) |
Y119* |
probably null |
Het |
| Abcb9 |
C |
A |
5: 124,209,812 (GRCm39) |
E664* |
probably null |
Het |
| Adgrl2 |
T |
C |
3: 148,564,578 (GRCm39) |
D334G |
probably damaging |
Het |
| Ak9 |
T |
G |
10: 41,193,826 (GRCm39) |
C57G |
probably damaging |
Het |
| Als2cl |
A |
G |
9: 110,724,952 (GRCm39) |
K809E |
probably damaging |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Atp11a |
A |
G |
8: 12,896,099 (GRCm39) |
I223V |
probably benign |
Het |
| Cacna2d3 |
A |
T |
14: 28,630,278 (GRCm39) |
V1022E |
probably benign |
Het |
| Cc2d1b |
C |
T |
4: 108,490,422 (GRCm39) |
R825W |
probably damaging |
Het |
| Cd37 |
A |
G |
7: 44,886,598 (GRCm39) |
C85R |
probably damaging |
Het |
| Ces1g |
T |
C |
8: 94,063,764 (GRCm39) |
S7G |
probably benign |
Het |
| Cltc |
T |
C |
11: 86,611,188 (GRCm39) |
N561S |
probably benign |
Het |
| Cnbd2 |
A |
G |
2: 156,217,494 (GRCm39) |
E661G |
possibly damaging |
Het |
| Col6a3 |
A |
T |
1: 90,750,063 (GRCm39) |
F257Y |
probably damaging |
Het |
| Cpt1b |
T |
C |
15: 89,309,037 (GRCm39) |
Y55C |
possibly damaging |
Het |
| Csmd1 |
A |
G |
8: 15,976,611 (GRCm39) |
V2869A |
probably benign |
Het |
| Dnah11 |
T |
C |
12: 118,143,482 (GRCm39) |
E387G |
probably benign |
Het |
| Eny2 |
T |
A |
15: 44,292,949 (GRCm39) |
|
probably null |
Het |
| Gm14403 |
AAACCCTA |
AA |
2: 177,201,448 (GRCm39) |
|
probably benign |
Het |
| Gpx2 |
C |
T |
12: 76,842,068 (GRCm39) |
G28S |
probably damaging |
Het |
| H2-Q5 |
G |
T |
17: 35,613,918 (GRCm39) |
A156S |
probably benign |
Het |
| Hoxd4 |
A |
G |
2: 74,558,807 (GRCm39) |
D210G |
possibly damaging |
Het |
| Hoxd9 |
A |
G |
2: 74,529,166 (GRCm39) |
Q256R |
probably damaging |
Het |
| Macf1 |
A |
G |
4: 123,346,085 (GRCm39) |
V2571A |
probably damaging |
Het |
| Mtus1 |
A |
G |
8: 41,537,074 (GRCm39) |
V214A |
possibly damaging |
Het |
| Myh1 |
C |
T |
11: 67,111,793 (GRCm39) |
A1716V |
probably benign |
Het |
| Nbeal1 |
A |
G |
1: 60,261,287 (GRCm39) |
D249G |
probably damaging |
Het |
| Nup54 |
TCTGCTGCTGCTGCTGCTGCTGCTG |
TCTGCTGCTGCTGCTGCTGCTG |
5: 92,578,663 (GRCm39) |
|
probably benign |
Het |
| Or10v9 |
G |
T |
19: 11,833,148 (GRCm39) |
H56Q |
probably damaging |
Het |
| Or4c124 |
A |
T |
2: 89,155,677 (GRCm39) |
N282K |
probably damaging |
Het |
| Or5w17 |
C |
T |
2: 87,583,696 (GRCm39) |
V214I |
probably benign |
Het |
| Or7a37 |
T |
G |
10: 78,805,974 (GRCm39) |
L164V |
probably damaging |
Het |
| Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
| Pramel23 |
T |
C |
4: 143,423,886 (GRCm39) |
Y301C |
possibly damaging |
Het |
| Prss59 |
A |
G |
6: 40,897,939 (GRCm39) |
I248T |
probably benign |
Het |
| Pwwp2a |
A |
G |
11: 43,595,423 (GRCm39) |
D196G |
probably benign |
Het |
| Rarg |
A |
T |
15: 102,150,327 (GRCm39) |
C93S |
possibly damaging |
Het |
| Rcc1 |
T |
C |
4: 132,065,073 (GRCm39) |
D150G |
possibly damaging |
Het |
| Ripk2 |
A |
G |
4: 16,163,330 (GRCm39) |
Y23H |
probably damaging |
Het |
| Rragc |
A |
G |
4: 123,811,340 (GRCm39) |
Y5C |
possibly damaging |
Het |
| Rubcnl |
G |
A |
14: 75,269,369 (GRCm39) |
G9D |
probably damaging |
Het |
| Sephs2 |
A |
T |
7: 126,872,073 (GRCm39) |
V340E |
probably damaging |
Het |
| Slc22a3 |
C |
T |
17: 12,677,438 (GRCm39) |
M243I |
probably benign |
Het |
| Slco6c1 |
A |
G |
1: 97,000,518 (GRCm39) |
|
probably null |
Het |
| Sncaip |
T |
G |
18: 53,039,966 (GRCm39) |
I308R |
probably damaging |
Het |
| Supt16 |
G |
A |
14: 52,408,338 (GRCm39) |
T869M |
probably damaging |
Het |
| Tanc1 |
G |
A |
2: 59,674,366 (GRCm39) |
E1817K |
possibly damaging |
Het |
| Usp4 |
C |
A |
9: 108,248,154 (GRCm39) |
Q395K |
probably damaging |
Het |
| Usp49 |
T |
A |
17: 47,984,272 (GRCm39) |
S210T |
possibly damaging |
Het |
| Virma |
A |
G |
4: 11,505,498 (GRCm39) |
I124M |
probably damaging |
Het |
| Vmn1r234 |
G |
A |
17: 21,449,589 (GRCm39) |
V168I |
probably benign |
Het |
| Vnn3 |
T |
A |
10: 23,732,187 (GRCm39) |
C146S |
probably damaging |
Het |
| Ylpm1 |
A |
G |
12: 85,088,953 (GRCm39) |
D1234G |
probably damaging |
Het |
| Zfp617 |
T |
A |
8: 72,687,098 (GRCm39) |
V476E |
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 |
|
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 |
|
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'- AATACTGTTGGACTCCACGAGC -3'
(R):5'- AATTGGGCATTGTCCCTGTG -3'
Sequencing Primer
(F):5'- TTGGACTCCACGAGCGCTAC -3'
(R):5'- CATTGTCCCTGTGTGCGAAG -3'
|
| Posted On |
2018-02-27 |
Incidental Mutation