Incidental Mutation 'R6616:Fbxw10'
ID |
524075 |
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 |
044739-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.066)
|
Stock # |
R6616 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
62737895-62768291 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 62743850 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 252
(M252K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000117872
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036085]
[ENSMUST00000072639]
[ENSMUST00000150989]
[ENSMUST00000176577]
[ENSMUST00000177336]
|
AlphaFold |
Q5SUS0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000036085
AA Change: M252K
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000046156 Gene: ENSMUSG00000090173 AA Change: M252K
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: M252K
PolyPhen 2
Score 0.139 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000117872 Gene: ENSMUSG00000090173 AA Change: M252K
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 |
noncoding transcript
Transcript: ENSMUST00000175804
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000176577
AA Change: M252K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000135870 Gene: ENSMUSG00000090173 AA Change: M252K
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: M252K
PolyPhen 2
Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000135294 Gene: ENSMUSG00000090173 AA Change: M252K
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: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.8%
|
Validation Efficiency |
100% (51/51) |
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca3 |
A |
T |
17: 24,603,509 (GRCm39) |
H567L |
probably damaging |
Het |
Adck1 |
T |
A |
12: 88,427,958 (GRCm39) |
M525K |
unknown |
Het |
Alpi |
T |
C |
1: 87,028,836 (GRCm39) |
I74V |
possibly damaging |
Het |
Ccdc168 |
C |
A |
1: 44,100,634 (GRCm39) |
V155L |
possibly damaging |
Het |
Creb5 |
A |
C |
6: 53,662,295 (GRCm39) |
Q197H |
possibly damaging |
Het |
Cyp2b13 |
A |
G |
7: 25,785,306 (GRCm39) |
K225R |
probably benign |
Het |
Dock1 |
G |
A |
7: 134,710,221 (GRCm39) |
E1143K |
possibly damaging |
Het |
Eef2kmt |
T |
A |
16: 5,065,346 (GRCm39) |
D287V |
probably damaging |
Het |
Eif2ak4 |
T |
A |
2: 118,285,326 (GRCm39) |
Y1046* |
probably null |
Het |
Fnip2 |
A |
C |
3: 79,388,189 (GRCm39) |
H847Q |
probably benign |
Het |
Frmd3 |
A |
T |
4: 74,105,725 (GRCm39) |
D457V |
probably damaging |
Het |
Gm13941 |
T |
G |
2: 110,931,520 (GRCm39) |
E37D |
unknown |
Het |
Grin1 |
T |
A |
2: 25,182,122 (GRCm39) |
I870F |
possibly damaging |
Het |
Grin2b |
A |
C |
6: 135,709,549 (GRCm39) |
D1332E |
probably benign |
Het |
Gtpbp4 |
G |
A |
13: 9,039,141 (GRCm39) |
T201I |
possibly damaging |
Het |
Heatr4 |
A |
G |
12: 84,026,904 (GRCm39) |
C118R |
probably benign |
Het |
Hltf |
T |
A |
3: 20,163,651 (GRCm39) |
|
probably null |
Het |
Hmcn1 |
C |
T |
1: 150,599,008 (GRCm39) |
|
probably null |
Het |
Hpd |
A |
T |
5: 123,310,123 (GRCm39) |
L367Q |
probably damaging |
Het |
Htr1b |
A |
G |
9: 81,514,487 (GRCm39) |
I40T |
probably benign |
Het |
Il16 |
A |
G |
7: 83,295,684 (GRCm39) |
S464P |
probably benign |
Het |
Lrp1b |
T |
A |
2: 40,589,643 (GRCm39) |
D75V |
unknown |
Het |
Map3k4 |
A |
T |
17: 12,490,231 (GRCm39) |
L400Q |
probably damaging |
Het |
Mcts2 |
T |
A |
2: 152,529,582 (GRCm39) |
I131N |
possibly damaging |
Het |
Mroh2b |
A |
C |
15: 4,982,764 (GRCm39) |
I1528L |
probably benign |
Het |
Muc4 |
A |
C |
16: 32,602,378 (GRCm39) |
D3467A |
possibly damaging |
Het |
Mypn |
A |
T |
10: 63,005,091 (GRCm39) |
C339S |
probably damaging |
Het |
Ncoa5 |
A |
T |
2: 164,852,483 (GRCm39) |
Y130* |
probably null |
Het |
Or11g27 |
T |
A |
14: 50,771,364 (GRCm39) |
I165N |
probably benign |
Het |
Or2y11 |
T |
A |
11: 49,442,868 (GRCm39) |
V98E |
probably damaging |
Het |
Pcdha4 |
A |
G |
18: 37,086,953 (GRCm39) |
T379A |
probably benign |
Het |
Pkp4 |
C |
G |
2: 59,180,896 (GRCm39) |
Y720* |
probably null |
Het |
Prl5a1 |
C |
T |
13: 28,333,839 (GRCm39) |
T114I |
probably benign |
Het |
Rnd3 |
A |
G |
2: 51,024,169 (GRCm39) |
S137P |
probably damaging |
Het |
Rtel1 |
G |
A |
2: 180,994,579 (GRCm39) |
E680K |
possibly damaging |
Het |
Sbsn |
T |
A |
7: 30,452,704 (GRCm39) |
V573D |
possibly damaging |
Het |
Scaf8 |
A |
T |
17: 3,218,330 (GRCm39) |
L233F |
unknown |
Het |
Sec23a |
A |
T |
12: 59,043,941 (GRCm39) |
I241K |
possibly damaging |
Het |
Secisbp2l |
A |
T |
2: 125,610,146 (GRCm39) |
S258T |
probably damaging |
Het |
Skint4 |
A |
G |
4: 111,975,427 (GRCm39) |
H121R |
possibly damaging |
Het |
Sptbn1 |
T |
A |
11: 30,074,030 (GRCm39) |
E1346D |
probably benign |
Het |
Srsf11 |
C |
T |
3: 157,728,981 (GRCm39) |
|
probably benign |
Het |
Stpg4 |
A |
G |
17: 87,730,124 (GRCm39) |
Y74H |
probably damaging |
Het |
Tenm4 |
G |
A |
7: 96,202,703 (GRCm39) |
R106H |
probably benign |
Het |
Tmc4 |
A |
G |
7: 3,674,057 (GRCm39) |
V374A |
possibly damaging |
Het |
Unc45b |
G |
A |
11: 82,802,645 (GRCm39) |
R47Q |
probably damaging |
Het |
Xirp1 |
A |
G |
9: 119,848,080 (GRCm39) |
S268P |
probably damaging |
Het |
Zfp990 |
A |
T |
4: 145,263,715 (GRCm39) |
I238L |
probably benign |
Het |
Zswim5 |
A |
G |
4: 116,843,938 (GRCm39) |
D992G |
possibly 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 |
|
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'- CAGGAGATTCGACTTCAGGTGG -3'
(R):5'- GGAAGTCTCTGAGAATTGCCCTC -3'
Sequencing Primer
(F):5'- GCTGATTAGAATATTCAGCGGCC -3'
(R):5'- TGAGAATTGCCCTCATCTACCCAG -3'
|
Posted On |
2018-06-22 |