Incidental Mutation 'R1033:Fbxo10'
| ID |
95220 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbxo10
|
| Ensembl Gene |
ENSMUSG00000048232 |
| Gene Name |
F-box protein 10 |
| Synonyms |
LOC269529, FBX10 |
| MMRRC Submission |
039132-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1033 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
45034248-45084604 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 45062236 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 97
(C97S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058233
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052236]
|
| AlphaFold |
Q7TQF2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000052236
AA Change: C97S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000058233
Gene: ENSMUSG00000048232
AA Change: C97S
| 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 |
probably benign
Transcript: ENSMUST00000140008
|
| SMART Domains |
Protein: ENSMUSP00000119862
Gene: ENSMUSG00000048232
| 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: 99.0%
- 3x: 98.1%
- 10x: 95.7%
- 20x: 91.7%
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
G |
A |
5: 77,024,130 (GRCm39) |
T174M |
probably damaging |
Het |
| Akap6 |
A |
C |
12: 53,116,005 (GRCm39) |
D1036A |
probably damaging |
Het |
| Alg6 |
T |
C |
4: 99,650,270 (GRCm39) |
S497P |
probably benign |
Het |
| Arhgap10 |
T |
A |
8: 77,983,976 (GRCm39) |
I700L |
possibly damaging |
Het |
| Atp11a |
A |
G |
8: 12,878,555 (GRCm39) |
Y377C |
probably damaging |
Het |
| Atp2b2 |
A |
T |
6: 113,770,849 (GRCm39) |
|
probably null |
Het |
| Card14 |
T |
A |
11: 119,229,196 (GRCm39) |
V702D |
probably damaging |
Het |
| Ccdc17 |
C |
T |
4: 116,454,077 (GRCm39) |
R32* |
probably null |
Het |
| Cdh20 |
A |
T |
1: 110,012,783 (GRCm39) |
D372V |
probably damaging |
Het |
| Cfap54 |
A |
T |
10: 92,675,311 (GRCm39) |
I2870N |
probably benign |
Het |
| Cped1 |
G |
T |
6: 22,016,950 (GRCm39) |
V100F |
probably damaging |
Het |
| Dapk1 |
T |
C |
13: 60,869,679 (GRCm39) |
|
probably null |
Het |
| Exoc4 |
G |
A |
6: 33,242,922 (GRCm39) |
G45D |
probably damaging |
Het |
| Fam110b |
A |
T |
4: 5,799,440 (GRCm39) |
N286I |
probably benign |
Het |
| Frem3 |
A |
T |
8: 81,421,786 (GRCm39) |
H2062L |
probably benign |
Het |
| Frk |
T |
C |
10: 34,484,454 (GRCm39) |
C476R |
probably damaging |
Het |
| Gm10542 |
A |
G |
18: 44,337,668 (GRCm39) |
T49A |
probably benign |
Het |
| Gm128 |
A |
G |
3: 95,147,322 (GRCm39) |
V324A |
possibly damaging |
Het |
| Gpr141 |
C |
T |
13: 19,935,880 (GRCm39) |
M298I |
probably benign |
Het |
| Gxylt1 |
T |
C |
15: 93,142,958 (GRCm39) |
E369G |
probably benign |
Het |
| Hpse2 |
A |
G |
19: 42,901,638 (GRCm39) |
V368A |
probably benign |
Het |
| Ice1 |
A |
T |
13: 70,754,713 (GRCm39) |
S458T |
probably damaging |
Het |
| Itgb7 |
T |
A |
15: 102,131,989 (GRCm39) |
D198V |
probably damaging |
Het |
| Kcnk10 |
A |
G |
12: 98,484,929 (GRCm39) |
V72A |
possibly damaging |
Het |
| Magel2 |
A |
G |
7: 62,029,798 (GRCm39) |
M901V |
unknown |
Het |
| Mgam |
A |
T |
6: 40,657,558 (GRCm39) |
Y971F |
probably benign |
Het |
| Mib2 |
C |
T |
4: 155,743,917 (GRCm39) |
G42S |
probably damaging |
Het |
| Mug1 |
A |
T |
6: 121,857,510 (GRCm39) |
D1078V |
probably damaging |
Het |
| Myom2 |
G |
A |
8: 15,158,934 (GRCm39) |
R870H |
probably benign |
Het |
| Nek8 |
A |
T |
11: 78,062,111 (GRCm39) |
L71Q |
probably null |
Het |
| Nox4 |
T |
A |
7: 87,023,621 (GRCm39) |
D502E |
probably damaging |
Het |
| Nsmaf |
G |
A |
4: 6,438,054 (GRCm39) |
P73S |
probably damaging |
Het |
| Nup205 |
C |
T |
6: 35,204,377 (GRCm39) |
A1421V |
probably benign |
Het |
| Nxpe4 |
T |
C |
9: 48,304,533 (GRCm39) |
F207L |
probably damaging |
Het |
| Or1p1 |
A |
C |
11: 74,179,492 (GRCm39) |
T7P |
probably damaging |
Het |
| Or3a1 |
A |
C |
11: 74,225,462 (GRCm39) |
N198K |
possibly damaging |
Het |
| Or4k38 |
A |
T |
2: 111,166,147 (GRCm39) |
I92N |
probably damaging |
Het |
| Or5al7 |
A |
G |
2: 85,993,194 (GRCm39) |
I33T |
possibly damaging |
Het |
| Pals2 |
T |
C |
6: 50,160,716 (GRCm39) |
Y326H |
probably damaging |
Het |
| Prkdc |
T |
C |
16: 15,585,815 (GRCm39) |
L2451P |
probably damaging |
Het |
| Rad51ap2 |
C |
T |
12: 11,506,252 (GRCm39) |
S58F |
probably damaging |
Het |
| Rbbp8 |
A |
G |
18: 11,875,762 (GRCm39) |
R892G |
probably benign |
Het |
| Rock1 |
A |
G |
18: 10,067,535 (GRCm39) |
S1333P |
probably benign |
Het |
| Rpl7 |
A |
G |
1: 16,172,728 (GRCm39) |
I197T |
probably benign |
Het |
| Sar1a |
C |
A |
10: 61,521,395 (GRCm39) |
Q81K |
probably damaging |
Het |
| Shank1 |
A |
T |
7: 44,006,220 (GRCm39) |
H1979L |
possibly damaging |
Het |
| Slc10a2 |
C |
T |
8: 5,154,889 (GRCm39) |
V99M |
probably damaging |
Het |
| Slc22a30 |
G |
A |
19: 8,313,165 (GRCm39) |
Q436* |
probably null |
Het |
| Spata31e2 |
G |
A |
1: 26,721,466 (GRCm39) |
P1238L |
probably benign |
Het |
| Speer4a2 |
T |
C |
5: 26,294,125 (GRCm39) |
K18E |
probably benign |
Het |
| Szt2 |
C |
T |
4: 118,244,303 (GRCm39) |
R1305H |
probably damaging |
Het |
| Ubash3a |
G |
A |
17: 31,427,186 (GRCm39) |
G32S |
probably damaging |
Het |
| Vmn1r200 |
G |
A |
13: 22,580,060 (GRCm39) |
D279N |
probably damaging |
Het |
| Zbtb8a |
T |
C |
4: 129,248,014 (GRCm39) |
D419G |
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 |
|
|
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 |
|
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'- GGCATGAAGACAAGATTGCACACAC -3'
(R):5'- TATGAGCTGATCCTCAGCCTGGAC -3'
Sequencing Primer
(F):5'- TTGGCCCACAATCTCCAC -3'
(R):5'- TCCTCAGCCTGGACAGTACC -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation