Incidental Mutation 'R6870:Fbxw10'
| ID |
536153 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fbxw10
|
| Ensembl Gene |
ENSMUSG00000090173 |
| Gene Name |
F-box and WD-40 domain protein 10 |
| Synonyms |
SM2SH2, SM25H2, Fbw10 |
| MMRRC Submission |
044967-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.066)
|
| Stock # |
R6870 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
62737895-62768291 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 62746193 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 366
(R366C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135870
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036085]
[ENSMUST00000072639]
[ENSMUST00000150989]
[ENSMUST00000176577]
[ENSMUST00000177336]
|
| AlphaFold |
Q5SUS0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036085
AA Change: R376C
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000046156
Gene: ENSMUSG00000090173
AA Change: R376C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
262 |
274 |
N/A |
INTRINSIC |
|
Blast:FBOX
|
286 |
326 |
6e-14 |
BLAST |
|
Blast:WD40
|
416 |
453 |
2e-8 |
BLAST |
|
WD40
|
457 |
496 |
1.78e-5 |
SMART |
|
WD40
|
499 |
536 |
5.55e-7 |
SMART |
|
WD40
|
539 |
575 |
2.84e-4 |
SMART |
|
WD40
|
578 |
615 |
3.81e-5 |
SMART |
|
WD40
|
620 |
656 |
6.9e-1 |
SMART |
|
low complexity region
|
709 |
724 |
N/A |
INTRINSIC |
|
coiled coil region
|
964 |
992 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000072639
|
| SMART Domains |
Protein: ENSMUSP00000072432
Gene: ENSMUSG00000047821
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:BBOX
|
64 |
113 |
5e-24 |
BLAST |
|
BBOX
|
117 |
157 |
3.24e-4 |
SMART |
|
coiled coil region
|
171 |
196 |
N/A |
INTRINSIC |
|
coiled coil region
|
237 |
265 |
N/A |
INTRINSIC |
|
PRY
|
364 |
417 |
1.41e-22 |
SMART |
|
Pfam:SPRY
|
418 |
483 |
1.4e-6 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150989
AA Change: R366C
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000117872
Gene: ENSMUSG00000090173
AA Change: R366C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
262 |
274 |
N/A |
INTRINSIC |
|
Blast:FBOX
|
286 |
326 |
1e-13 |
BLAST |
|
Blast:WD40
|
406 |
443 |
2e-8 |
BLAST |
|
WD40
|
447 |
486 |
1.78e-5 |
SMART |
|
WD40
|
489 |
526 |
5.55e-7 |
SMART |
|
WD40
|
529 |
565 |
2.84e-4 |
SMART |
|
WD40
|
568 |
605 |
3.81e-5 |
SMART |
|
WD40
|
610 |
646 |
6.9e-1 |
SMART |
|
low complexity region
|
699 |
714 |
N/A |
INTRINSIC |
|
coiled coil region
|
954 |
982 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000176577
AA Change: R366C
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000135870
Gene: ENSMUSG00000090173
AA Change: R366C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
262 |
274 |
N/A |
INTRINSIC |
|
Blast:FBOX
|
286 |
326 |
6e-14 |
BLAST |
|
Blast:WD40
|
406 |
443 |
2e-8 |
BLAST |
|
WD40
|
447 |
486 |
1.78e-5 |
SMART |
|
WD40
|
489 |
526 |
5.55e-7 |
SMART |
|
WD40
|
529 |
565 |
2.84e-4 |
SMART |
|
WD40
|
568 |
605 |
3.81e-5 |
SMART |
|
WD40
|
610 |
646 |
6.9e-1 |
SMART |
|
low complexity region
|
704 |
719 |
N/A |
INTRINSIC |
|
coiled coil region
|
959 |
987 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177336
AA Change: R366C
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000135294
Gene: ENSMUSG00000090173
AA Change: R366C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
262 |
274 |
N/A |
INTRINSIC |
|
Blast:FBOX
|
286 |
326 |
5e-14 |
BLAST |
|
Blast:WD40
|
406 |
443 |
1e-8 |
BLAST |
|
WD40
|
447 |
486 |
1.78e-5 |
SMART |
|
WD40
|
489 |
526 |
5.55e-7 |
SMART |
|
WD40
|
529 |
565 |
2.84e-4 |
SMART |
|
WD40
|
568 |
605 |
3.81e-5 |
SMART |
|
WD40
|
610 |
646 |
6.9e-1 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.4%
|
| Validation Efficiency |
72% (39/54) |
| 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 FBXW10, 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700088E04Rik |
T |
C |
15: 79,020,608 (GRCm39) |
Y62C |
probably benign |
Het |
| A1bg |
T |
C |
15: 60,791,564 (GRCm39) |
T291A |
probably damaging |
Het |
| Abcb11 |
A |
G |
2: 69,115,642 (GRCm39) |
I574T |
possibly damaging |
Het |
| Abcb5 |
T |
A |
12: 118,929,000 (GRCm39) |
Y17F |
possibly damaging |
Het |
| Arfgef3 |
A |
T |
10: 18,522,478 (GRCm39) |
L516* |
probably null |
Het |
| Arhgap21 |
A |
G |
2: 20,885,321 (GRCm39) |
S619P |
probably damaging |
Het |
| Atp2c1 |
A |
G |
9: 105,347,261 (GRCm39) |
V65A |
probably benign |
Het |
| Calm3 |
T |
A |
7: 16,653,568 (GRCm39) |
Q9L |
probably benign |
Het |
| Cd300c2 |
C |
T |
11: 114,891,503 (GRCm39) |
D124N |
probably damaging |
Het |
| Celsr3 |
A |
G |
9: 108,706,390 (GRCm39) |
T958A |
probably benign |
Het |
| Cemip2 |
T |
C |
19: 21,809,487 (GRCm39) |
S956P |
possibly damaging |
Het |
| Cfap69 |
T |
C |
5: 5,671,958 (GRCm39) |
T317A |
probably benign |
Het |
| Cluh |
T |
A |
11: 74,556,210 (GRCm39) |
I887K |
probably damaging |
Het |
| Dag1 |
A |
T |
9: 108,086,457 (GRCm39) |
V228E |
probably damaging |
Het |
| Dhtkd1 |
T |
C |
2: 5,924,248 (GRCm39) |
|
probably null |
Het |
| Dnah1 |
T |
A |
14: 30,993,018 (GRCm39) |
K2959* |
probably null |
Het |
| Dnttip2 |
T |
A |
3: 122,069,457 (GRCm39) |
V224E |
probably damaging |
Het |
| Drosha |
C |
T |
15: 12,907,479 (GRCm39) |
P1071L |
probably benign |
Het |
| E030025P04Rik |
T |
A |
11: 109,030,993 (GRCm39) |
H84L |
unknown |
Het |
| Elac2 |
A |
T |
11: 64,890,589 (GRCm39) |
S698C |
probably null |
Het |
| Elf2 |
A |
T |
3: 51,201,586 (GRCm39) |
*88R |
probably null |
Het |
| Fastkd1 |
T |
A |
2: 69,538,958 (GRCm39) |
I143L |
probably benign |
Het |
| Frg2f1 |
T |
C |
4: 119,388,329 (GRCm39) |
M57V |
probably benign |
Het |
| Gbp4 |
T |
C |
5: 105,273,444 (GRCm39) |
S129G |
probably damaging |
Het |
| Gnat2 |
A |
C |
3: 108,002,947 (GRCm39) |
|
probably benign |
Het |
| Golgb1 |
C |
A |
16: 36,738,565 (GRCm39) |
F2301L |
probably damaging |
Het |
| Il18bp |
T |
C |
7: 101,666,518 (GRCm39) |
T2A |
possibly damaging |
Het |
| Kpna2 |
T |
C |
11: 106,883,520 (GRCm39) |
|
probably null |
Het |
| Lrrfip2 |
A |
T |
9: 111,045,187 (GRCm39) |
|
probably benign |
Het |
| Map4k1 |
T |
G |
7: 28,701,096 (GRCm39) |
|
probably null |
Het |
| Mcm3ap |
T |
C |
10: 76,306,049 (GRCm39) |
V54A |
probably benign |
Het |
| Nup133 |
A |
G |
8: 124,626,246 (GRCm39) |
I1112T |
probably benign |
Het |
| Or8b1 |
A |
C |
9: 38,399,382 (GRCm39) |
D19A |
probably benign |
Het |
| Pcdhac1 |
T |
A |
18: 37,225,140 (GRCm39) |
V651D |
probably damaging |
Het |
| Pde10a |
A |
G |
17: 9,186,356 (GRCm39) |
T571A |
possibly damaging |
Het |
| Phc3 |
A |
G |
3: 30,990,910 (GRCm39) |
S403P |
probably damaging |
Het |
| Prl7b1 |
T |
C |
13: 27,788,516 (GRCm39) |
E113G |
probably damaging |
Het |
| Psmd2 |
T |
G |
16: 20,480,593 (GRCm39) |
M744R |
probably benign |
Het |
| Qrich2 |
T |
C |
11: 116,346,156 (GRCm39) |
D1556G |
probably damaging |
Het |
| Septin1 |
C |
T |
7: 126,816,876 (GRCm39) |
V46M |
probably benign |
Het |
| Shank2 |
C |
A |
7: 143,606,197 (GRCm39) |
Q127K |
probably damaging |
Het |
| Siah1a |
A |
G |
8: 87,451,653 (GRCm39) |
V277A |
possibly damaging |
Het |
| Slc4a7 |
T |
A |
14: 14,733,846 (GRCm38) |
D85E |
probably damaging |
Het |
| Slc5a12 |
A |
T |
2: 110,472,155 (GRCm39) |
I526F |
probably damaging |
Het |
| Svil |
T |
C |
18: 5,063,231 (GRCm39) |
V834A |
possibly damaging |
Het |
| Sycp1 |
T |
A |
3: 102,842,919 (GRCm39) |
S17C |
probably damaging |
Het |
| Tssk6 |
G |
A |
8: 70,355,673 (GRCm39) |
R239Q |
probably benign |
Het |
| Txnrd1 |
A |
G |
10: 82,709,042 (GRCm39) |
D80G |
probably benign |
Het |
| Tyk2 |
A |
G |
9: 21,036,250 (GRCm39) |
F79S |
probably damaging |
Het |
| Tyrp1 |
T |
C |
4: 80,769,014 (GRCm39) |
S503P |
probably benign |
Het |
| Upf1 |
A |
T |
8: 70,794,211 (GRCm39) |
C232S |
probably benign |
Het |
| Zeb2 |
G |
A |
2: 44,878,922 (GRCm39) |
T1080I |
probably damaging |
Het |
|
| Other mutations in Fbxw10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00941:Fbxw10
|
APN |
11 |
62,764,327 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01552:Fbxw10
|
APN |
11 |
62,748,510 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL01625:Fbxw10
|
APN |
11 |
62,750,853 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01960:Fbxw10
|
APN |
11 |
62,767,582 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02457:Fbxw10
|
APN |
11 |
62,765,808 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02475:Fbxw10
|
APN |
11 |
62,748,561 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02864:Fbxw10
|
APN |
11 |
62,764,349 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0083:Fbxw10
|
UTSW |
11 |
62,767,887 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0108:Fbxw10
|
UTSW |
11 |
62,767,887 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0147:Fbxw10
|
UTSW |
11 |
62,738,307 (GRCm39) |
splice site |
probably null |
|
|
R0180:Fbxw10
|
UTSW |
11 |
62,743,922 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0196:Fbxw10
|
UTSW |
11 |
62,768,070 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0454:Fbxw10
|
UTSW |
11 |
62,767,564 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R0529:Fbxw10
|
UTSW |
11 |
62,750,671 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0791:Fbxw10
|
UTSW |
11 |
62,738,282 (GRCm39) |
missense |
probably benign |
0.18 |
|
R0927:Fbxw10
|
UTSW |
11 |
62,767,770 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1026:Fbxw10
|
UTSW |
11 |
62,765,997 (GRCm39) |
missense |
probably benign |
|
|
R1448:Fbxw10
|
UTSW |
11 |
62,738,418 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R1468:Fbxw10
|
UTSW |
11 |
62,753,464 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1468:Fbxw10
|
UTSW |
11 |
62,753,464 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1689:Fbxw10
|
UTSW |
11 |
62,750,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1785:Fbxw10
|
UTSW |
11 |
62,750,683 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2130:Fbxw10
|
UTSW |
11 |
62,750,683 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2132:Fbxw10
|
UTSW |
11 |
62,750,683 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2211:Fbxw10
|
UTSW |
11 |
62,758,361 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3078:Fbxw10
|
UTSW |
11 |
62,758,339 (GRCm39) |
splice site |
probably benign |
|
|
R3700:Fbxw10
|
UTSW |
11 |
62,759,983 (GRCm39) |
splice site |
probably null |
|
|
R3932:Fbxw10
|
UTSW |
11 |
62,759,983 (GRCm39) |
splice site |
probably benign |
|
|
R4843:Fbxw10
|
UTSW |
11 |
62,738,151 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4869:Fbxw10
|
UTSW |
11 |
62,753,557 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4879:Fbxw10
|
UTSW |
11 |
62,738,573 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4980:Fbxw10
|
UTSW |
11 |
62,738,583 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5417:Fbxw10
|
UTSW |
11 |
62,767,990 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R5531:Fbxw10
|
UTSW |
11 |
62,753,482 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5877:Fbxw10
|
UTSW |
11 |
62,748,542 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6028:Fbxw10
|
UTSW |
11 |
62,764,345 (GRCm39) |
nonsense |
probably null |
|
|
R6616:Fbxw10
|
UTSW |
11 |
62,743,850 (GRCm39) |
missense |
probably benign |
0.14 |
|
R6967:Fbxw10
|
UTSW |
11 |
62,738,429 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R7409:Fbxw10
|
UTSW |
11 |
62,767,606 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7464:Fbxw10
|
UTSW |
11 |
62,744,124 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7542:Fbxw10
|
UTSW |
11 |
62,741,422 (GRCm39) |
missense |
probably benign |
0.33 |
|
R7568:Fbxw10
|
UTSW |
11 |
62,765,994 (GRCm39) |
missense |
probably benign |
|
|
R7733:Fbxw10
|
UTSW |
11 |
62,764,223 (GRCm39) |
missense |
unknown |
|
|
R7793:Fbxw10
|
UTSW |
11 |
62,738,213 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R7943:Fbxw10
|
UTSW |
11 |
62,741,487 (GRCm39) |
nonsense |
probably null |
|
|
R8003:Fbxw10
|
UTSW |
11 |
62,748,587 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R8323:Fbxw10
|
UTSW |
11 |
62,767,506 (GRCm39) |
missense |
probably benign |
0.33 |
|
R8899:Fbxw10
|
UTSW |
11 |
62,748,567 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8904:Fbxw10
|
UTSW |
11 |
62,765,831 (GRCm39) |
nonsense |
probably null |
|
|
R9035:Fbxw10
|
UTSW |
11 |
62,758,449 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R9121:Fbxw10
|
UTSW |
11 |
62,738,153 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R9300:Fbxw10
|
UTSW |
11 |
62,768,109 (GRCm39) |
missense |
probably benign |
0.18 |
|
R9332:Fbxw10
|
UTSW |
11 |
62,748,585 (GRCm39) |
missense |
probably benign |
0.33 |
|
R9334:Fbxw10
|
UTSW |
11 |
62,765,910 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R9417:Fbxw10
|
UTSW |
11 |
62,753,522 (GRCm39) |
nonsense |
probably null |
|
|
R9476:Fbxw10
|
UTSW |
11 |
62,743,814 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9510:Fbxw10
|
UTSW |
11 |
62,743,814 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9520:Fbxw10
|
UTSW |
11 |
62,750,842 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R9526:Fbxw10
|
UTSW |
11 |
62,765,945 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R9547:Fbxw10
|
UTSW |
11 |
62,767,647 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9602:Fbxw10
|
UTSW |
11 |
62,750,782 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
Z1186:Fbxw10
|
UTSW |
11 |
62,767,671 (GRCm39) |
missense |
probably benign |
|
|
Z1186:Fbxw10
|
UTSW |
11 |
62,738,118 (GRCm39) |
missense |
probably benign |
|
|
Z1187:Fbxw10
|
UTSW |
11 |
62,767,671 (GRCm39) |
missense |
probably benign |
|
|
Z1187:Fbxw10
|
UTSW |
11 |
62,738,118 (GRCm39) |
missense |
probably benign |
|
|
Z1188:Fbxw10
|
UTSW |
11 |
62,767,671 (GRCm39) |
missense |
probably benign |
|
|
Z1188:Fbxw10
|
UTSW |
11 |
62,738,118 (GRCm39) |
missense |
probably benign |
|
|
Z1189:Fbxw10
|
UTSW |
11 |
62,767,671 (GRCm39) |
missense |
probably benign |
|
|
Z1189:Fbxw10
|
UTSW |
11 |
62,738,118 (GRCm39) |
missense |
probably benign |
|
|
Z1190:Fbxw10
|
UTSW |
11 |
62,767,671 (GRCm39) |
missense |
probably benign |
|
|
Z1190:Fbxw10
|
UTSW |
11 |
62,738,118 (GRCm39) |
missense |
probably benign |
|
|
Z1191:Fbxw10
|
UTSW |
11 |
62,767,671 (GRCm39) |
missense |
probably benign |
|
|
Z1191:Fbxw10
|
UTSW |
11 |
62,738,118 (GRCm39) |
missense |
probably benign |
|
|
Z1192:Fbxw10
|
UTSW |
11 |
62,767,671 (GRCm39) |
missense |
probably benign |
|
|
Z1192:Fbxw10
|
UTSW |
11 |
62,738,118 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GTTTGGTTCAGCCCCAGC -3'
(R):5'- ACTTTAGCCGTTTCAGGGAGTG -3'
Sequencing Primer
(F):5'- GGAACCACCTTTGTCTCTGGTAG -3'
(R):5'- TTTCAGGGAGTGGCGCCTC -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation