Incidental Mutation 'R5877:Fbxw10'
| ID |
455611 |
| 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 |
044083-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.066)
|
| Stock # |
R5877 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
62737895-62768291 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 62748542 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Tyrosine
at position 390
(N390Y)
|
| 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: N400Y
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000046156
Gene: ENSMUSG00000090173
AA Change: N400Y
| 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: N390Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000117872
Gene: ENSMUSG00000090173
AA Change: N390Y
| 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: N390Y
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000135870
Gene: ENSMUSG00000090173
AA Change: N390Y
| 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: N390Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000135294
Gene: ENSMUSG00000090173
AA Change: N390Y
| 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 |
0.1242 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.7%
|
| Validation Efficiency |
97% (68/70) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam6b |
A |
T |
12: 113,453,822 (GRCm39) |
H213L |
probably damaging |
Het |
| Alk |
A |
G |
17: 72,274,521 (GRCm39) |
W597R |
probably damaging |
Het |
| Ark2n |
G |
T |
18: 77,730,902 (GRCm39) |
|
probably null |
Het |
| Ash1l |
G |
A |
3: 88,888,891 (GRCm39) |
V257I |
probably benign |
Het |
| Atp9b |
C |
T |
18: 80,796,004 (GRCm39) |
V957I |
probably benign |
Het |
| Birc2 |
A |
C |
9: 7,849,347 (GRCm39) |
C576G |
probably damaging |
Het |
| Brca2 |
T |
C |
5: 150,466,686 (GRCm39) |
M2150T |
possibly damaging |
Het |
| C3ar1 |
T |
G |
6: 122,827,581 (GRCm39) |
D212A |
probably benign |
Het |
| Cacna1s |
T |
C |
1: 136,028,405 (GRCm39) |
F914S |
probably damaging |
Het |
| Camk1d |
T |
C |
2: 5,570,476 (GRCm39) |
I62V |
probably benign |
Het |
| Caskin1 |
T |
C |
17: 24,724,239 (GRCm39) |
M1009T |
possibly damaging |
Het |
| Casp2 |
A |
G |
6: 42,253,571 (GRCm39) |
|
probably benign |
Het |
| Cd2bp2 |
T |
A |
7: 126,793,971 (GRCm39) |
Y106F |
probably damaging |
Het |
| Celsr3 |
G |
A |
9: 108,722,926 (GRCm39) |
C2763Y |
probably damaging |
Het |
| Cyp2g1 |
T |
G |
7: 26,516,065 (GRCm39) |
L310V |
possibly damaging |
Het |
| Dusp22 |
G |
A |
13: 30,891,944 (GRCm39) |
V99M |
probably damaging |
Het |
| Elp1 |
A |
T |
4: 56,787,807 (GRCm39) |
W375R |
probably damaging |
Het |
| Fam131b |
G |
A |
6: 42,297,913 (GRCm39) |
S92L |
probably benign |
Het |
| Flg2 |
A |
T |
3: 93,110,756 (GRCm39) |
H928L |
unknown |
Het |
| Gapdhs |
T |
C |
7: 30,431,772 (GRCm39) |
T280A |
probably damaging |
Het |
| Hdac11 |
A |
G |
6: 91,134,524 (GRCm39) |
K50E |
probably damaging |
Het |
| Hif3a |
G |
T |
7: 16,785,071 (GRCm39) |
A181E |
probably damaging |
Het |
| Itgb8 |
A |
G |
12: 119,166,271 (GRCm39) |
S87P |
probably benign |
Het |
| Klhl12 |
T |
A |
1: 134,411,558 (GRCm39) |
Y302* |
probably null |
Het |
| Lhx1 |
C |
A |
11: 84,413,065 (GRCm39) |
D30Y |
probably damaging |
Het |
| Mrpl40 |
A |
G |
16: 18,691,135 (GRCm39) |
Y148H |
probably damaging |
Het |
| Myh13 |
A |
T |
11: 67,244,484 (GRCm39) |
H1007L |
possibly damaging |
Het |
| Nhlrc2 |
T |
C |
19: 56,559,016 (GRCm39) |
I167T |
probably damaging |
Het |
| Nxpe3 |
A |
T |
16: 55,686,564 (GRCm39) |
I148K |
probably damaging |
Het |
| Odf2l |
A |
G |
3: 144,834,771 (GRCm39) |
|
probably null |
Het |
| Otud7b |
C |
T |
3: 96,059,277 (GRCm39) |
R347* |
probably null |
Het |
| P3h4 |
G |
T |
11: 100,304,843 (GRCm39) |
H181Q |
probably benign |
Het |
| P4htm |
T |
A |
9: 108,460,932 (GRCm39) |
Y180F |
possibly damaging |
Het |
| Pcna-ps2 |
A |
G |
19: 9,261,463 (GRCm39) |
I241V |
probably benign |
Het |
| Pcnx2 |
T |
C |
8: 126,480,467 (GRCm39) |
S1947G |
probably damaging |
Het |
| Piezo2 |
T |
C |
18: 63,247,005 (GRCm39) |
I336V |
probably benign |
Het |
| Plcd1 |
T |
C |
9: 118,905,240 (GRCm39) |
D157G |
probably damaging |
Het |
| Plekhm2 |
A |
C |
4: 141,367,004 (GRCm39) |
I212S |
probably damaging |
Het |
| Pmvk |
G |
T |
3: 89,371,676 (GRCm39) |
C57F |
probably benign |
Het |
| Pole |
T |
C |
5: 110,480,329 (GRCm39) |
S91P |
probably benign |
Het |
| Ppargc1b |
C |
G |
18: 61,442,164 (GRCm39) |
D591H |
probably damaging |
Het |
| Ppp4r3b |
A |
T |
11: 29,159,356 (GRCm39) |
D570V |
probably damaging |
Het |
| Pxdn |
T |
A |
12: 30,053,045 (GRCm39) |
I1074N |
probably damaging |
Het |
| Ralgapa2 |
A |
T |
2: 146,230,489 (GRCm39) |
D1025E |
probably damaging |
Het |
| Ralgps1 |
A |
G |
2: 33,133,640 (GRCm39) |
|
probably benign |
Het |
| Rasal1 |
C |
T |
5: 120,817,135 (GRCm39) |
|
probably benign |
Het |
| Rps2 |
A |
T |
17: 24,939,890 (GRCm39) |
|
probably benign |
Het |
| Scn7a |
G |
C |
2: 66,530,217 (GRCm39) |
Y709* |
probably null |
Het |
| Skint1 |
T |
A |
4: 111,878,720 (GRCm39) |
C217* |
probably null |
Het |
| Slc50a1 |
T |
C |
3: 89,176,460 (GRCm39) |
Y82C |
probably damaging |
Het |
| Slc9a4 |
T |
C |
1: 40,651,423 (GRCm39) |
V567A |
probably benign |
Het |
| Snx27 |
A |
T |
3: 94,410,270 (GRCm39) |
W469R |
probably damaging |
Het |
| Sos2 |
A |
G |
12: 69,643,569 (GRCm39) |
L937P |
probably damaging |
Het |
| Ssh1 |
T |
C |
5: 114,081,181 (GRCm39) |
T728A |
probably benign |
Het |
| Tnfrsf8 |
G |
A |
4: 145,019,257 (GRCm39) |
R193C |
probably benign |
Het |
| Tut4 |
T |
C |
4: 108,370,120 (GRCm39) |
V673A |
probably damaging |
Het |
| Usp33 |
T |
A |
3: 152,085,113 (GRCm39) |
M583K |
possibly damaging |
Het |
| Usp33 |
G |
A |
3: 152,085,233 (GRCm39) |
C623Y |
probably damaging |
Het |
| Wdfy3 |
T |
C |
5: 102,017,855 (GRCm39) |
I2562V |
probably damaging |
Het |
| Wnk2 |
T |
C |
13: 49,220,782 (GRCm39) |
D1175G |
probably damaging |
Het |
| Zfp341 |
G |
A |
2: 154,474,209 (GRCm39) |
E338K |
probably damaging |
Het |
| Zfp398 |
A |
G |
6: 47,817,638 (GRCm39) |
|
probably benign |
Het |
| Zp2 |
T |
A |
7: 119,732,562 (GRCm39) |
K661N |
probably null |
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 |
|
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'- GCTCTAGAACCTTCATCTCAGTG -3'
(R):5'- AAACAGGTTCTTAGGCCTGG -3'
Sequencing Primer
(F):5'- CTAACTTAAACGTCAGCTTATGGGCC -3'
(R):5'- CTGGAGCCTAGCAGGAGGTG -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation