Incidental Mutation 'R5531:Fbxw10'
| ID |
433707 |
| 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 |
043089-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.066)
|
| Stock # |
R5531 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
62737895-62768291 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 62753482 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 492
(C492Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135294
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036085]
[ENSMUST00000150989]
[ENSMUST00000176577]
[ENSMUST00000177336]
|
| AlphaFold |
Q5SUS0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000036085
AA Change: C502Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000046156
Gene: ENSMUSG00000090173
AA Change: C502Y
| 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 damaging
Transcript: ENSMUST00000150989
AA Change: C492Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000117872
Gene: ENSMUSG00000090173
AA Change: C492Y
| 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 |
possibly damaging
Transcript: ENSMUST00000176577
AA Change: C492Y
PolyPhen 2
Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000135870
Gene: ENSMUSG00000090173
AA Change: C492Y
| 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 damaging
Transcript: ENSMUST00000177336
AA Change: C492Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000135294
Gene: ENSMUSG00000090173
AA Change: C492Y
| 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 |
|
| Meta Mutation Damage Score |
0.6466 |
| Coding Region Coverage |
- 1x: 98.6%
- 3x: 97.5%
- 10x: 95.6%
- 20x: 92.2%
|
| Validation Efficiency |
97% (64/66) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acacb |
T |
C |
5: 114,342,767 (GRCm39) |
F878L |
possibly damaging |
Het |
| Acr |
T |
A |
15: 89,458,146 (GRCm39) |
Y276N |
probably damaging |
Het |
| AI987944 |
A |
T |
7: 41,023,814 (GRCm39) |
Y388* |
probably null |
Het |
| Ankrd29 |
G |
A |
18: 12,412,835 (GRCm39) |
T114I |
probably damaging |
Het |
| Ap5z1 |
T |
C |
5: 142,453,536 (GRCm39) |
M168T |
probably benign |
Het |
| Bard1 |
A |
C |
1: 71,085,880 (GRCm39) |
C608W |
probably damaging |
Het |
| Brd10 |
A |
G |
19: 29,731,072 (GRCm39) |
S647P |
possibly damaging |
Het |
| Clspn |
A |
G |
4: 126,471,566 (GRCm39) |
R907G |
probably benign |
Het |
| Cubn |
C |
T |
2: 13,355,743 (GRCm39) |
V1830I |
probably benign |
Het |
| Cwc22 |
T |
C |
2: 77,754,913 (GRCm39) |
N221S |
probably damaging |
Het |
| Dact3 |
A |
G |
7: 16,609,540 (GRCm39) |
E64G |
possibly damaging |
Het |
| Dhx40 |
T |
C |
11: 86,680,330 (GRCm39) |
E381G |
possibly damaging |
Het |
| Dnah7a |
A |
G |
1: 53,458,907 (GRCm39) |
S3744P |
possibly damaging |
Het |
| Epha4 |
A |
G |
1: 77,351,513 (GRCm39) |
V914A |
probably benign |
Het |
| G930045G22Rik |
C |
A |
6: 50,824,756 (GRCm39) |
|
noncoding transcript |
Het |
| Gm21103 |
A |
T |
14: 17,484,855 (GRCm39) |
I63K |
probably damaging |
Het |
| Gpr156 |
T |
C |
16: 37,825,619 (GRCm39) |
V612A |
probably benign |
Het |
| Gucy2g |
A |
G |
19: 55,229,572 (GRCm39) |
S33P |
probably benign |
Het |
| Hibch |
A |
G |
1: 52,884,228 (GRCm39) |
|
probably benign |
Het |
| Hmcn1 |
A |
T |
1: 150,619,539 (GRCm39) |
C1192S |
probably damaging |
Het |
| Hsd11b1 |
CGG |
CG |
1: 192,922,557 (GRCm39) |
|
probably null |
Het |
| Ifi214 |
A |
G |
1: 173,352,686 (GRCm39) |
Y248H |
probably damaging |
Het |
| Igf2bp2 |
T |
G |
16: 21,907,835 (GRCm39) |
I89L |
probably damaging |
Het |
| Il2ra |
A |
T |
2: 11,681,703 (GRCm39) |
T103S |
possibly damaging |
Het |
| Ino80 |
T |
A |
2: 119,276,056 (GRCm39) |
M407L |
probably benign |
Het |
| Jade1 |
A |
C |
3: 41,567,946 (GRCm39) |
K671N |
probably benign |
Het |
| Lca5 |
C |
T |
9: 83,280,648 (GRCm39) |
S384N |
probably benign |
Het |
| Lce1l |
G |
T |
3: 92,757,804 (GRCm39) |
P18H |
unknown |
Het |
| Lrrc8d |
T |
C |
5: 105,945,536 (GRCm39) |
|
probably benign |
Het |
| Ly75 |
T |
C |
2: 60,195,489 (GRCm39) |
N223S |
probably damaging |
Het |
| Mcm3 |
A |
T |
1: 20,873,768 (GRCm39) |
F784Y |
possibly damaging |
Het |
| Ncf4 |
T |
G |
15: 78,144,988 (GRCm39) |
|
probably benign |
Het |
| Ncoa1 |
T |
A |
12: 4,303,746 (GRCm39) |
M1362L |
probably benign |
Het |
| Or1e16 |
T |
C |
11: 73,286,003 (GRCm39) |
T282A |
probably benign |
Het |
| Or5p5 |
A |
G |
7: 107,414,451 (GRCm39) |
Y220C |
probably benign |
Het |
| Or6c8b |
G |
C |
10: 128,882,433 (GRCm39) |
F166L |
probably damaging |
Het |
| Prkg2 |
T |
C |
5: 99,115,593 (GRCm39) |
R543G |
probably damaging |
Het |
| Ptprd |
A |
C |
4: 75,977,904 (GRCm39) |
|
probably null |
Het |
| Scap |
A |
G |
9: 110,210,497 (GRCm39) |
S969G |
possibly damaging |
Het |
| Sgk2 |
T |
C |
2: 162,836,624 (GRCm39) |
F60S |
probably benign |
Het |
| Sgpp1 |
G |
T |
12: 75,781,981 (GRCm39) |
Y119* |
probably null |
Het |
| Siglech |
A |
T |
7: 55,418,413 (GRCm39) |
K31* |
probably null |
Het |
| Slc40a1 |
A |
G |
1: 45,951,498 (GRCm39) |
Y220H |
probably damaging |
Het |
| Smurf2 |
G |
A |
11: 106,743,389 (GRCm39) |
T219M |
possibly damaging |
Het |
| Speer4f2 |
A |
G |
5: 17,581,526 (GRCm39) |
K156R |
possibly damaging |
Het |
| Spp1 |
T |
G |
5: 104,588,424 (GRCm39) |
D276E |
probably benign |
Het |
| Stk32b |
T |
C |
5: 37,617,078 (GRCm39) |
|
probably null |
Het |
| Stxbp5 |
G |
A |
10: 9,638,668 (GRCm39) |
Q1044* |
probably null |
Het |
| Sv2c |
T |
A |
13: 96,097,886 (GRCm39) |
T696S |
probably damaging |
Het |
| Tubgcp2 |
A |
C |
7: 139,584,937 (GRCm39) |
|
probably null |
Het |
| Ubap1l |
C |
T |
9: 65,278,973 (GRCm39) |
P91S |
probably damaging |
Het |
| Vmn2r76 |
A |
T |
7: 85,874,657 (GRCm39) |
D773E |
probably damaging |
Het |
| Xirp2 |
C |
G |
2: 67,345,646 (GRCm39) |
S2629C |
probably benign |
Het |
| Zbtb20 |
C |
A |
16: 43,431,230 (GRCm39) |
C580* |
probably null |
Het |
| Zfp957 |
T |
A |
14: 79,450,622 (GRCm39) |
Q392H |
unknown |
Het |
| Zfyve19 |
C |
T |
2: 119,042,427 (GRCm39) |
T178M |
probably damaging |
Het |
| Zswim6 |
T |
C |
13: 107,906,128 (GRCm39) |
|
noncoding transcript |
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 |
|
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 |
|
R6870:Fbxw10
|
UTSW |
11 |
62,746,193 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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'- GGTTCTAACGTGCACACTGTG -3'
(R):5'- TGTAGCTCTGACTGTGGCTAC -3'
Sequencing Primer
(F):5'- ACAAGACCCTGTTGCCTA -3'
(R):5'- ATTCCCTAGGCAGGTGATTCTCAAG -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation