Incidental Mutation 'R7568:Fbxw10'
| ID |
585591 |
| 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 |
045630-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.066)
|
| Stock # |
R7568 (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 A
at 62765994 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 755
(Q755K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135870
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014321]
[ENSMUST00000036085]
[ENSMUST00000150989]
[ENSMUST00000176577]
[ENSMUST00000177336]
|
| AlphaFold |
Q5SUS0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000014321
|
| SMART Domains |
Protein: ENSMUSP00000014321
Gene: ENSMUSG00000014177
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF846
|
32 |
174 |
9.5e-58 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036085
AA Change: Q760K
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000046156
Gene: ENSMUSG00000090173
AA Change: Q760K
| 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: ENSMUST00000150989
AA Change: Q750K
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000117872
Gene: ENSMUSG00000090173
AA Change: Q750K
| 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 benign
Transcript: ENSMUST00000176577
AA Change: Q755K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000135870
Gene: ENSMUSG00000090173
AA Change: Q755K
| 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
|
| SMART Domains |
Protein: ENSMUSP00000135294
Gene: ENSMUSG00000090173
| 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: 99.6%
- 20x: 98.9%
|
| 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 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 |
|---|
| Actbl2 |
T |
A |
13: 111,391,956 (GRCm39) |
V97E |
possibly damaging |
Het |
| Actl7a |
A |
T |
4: 56,744,498 (GRCm39) |
T342S |
probably damaging |
Het |
| Alcam |
A |
G |
16: 52,088,749 (GRCm39) |
S554P |
probably damaging |
Het |
| Ano3 |
T |
C |
2: 110,780,638 (GRCm39) |
|
probably benign |
Het |
| Atad2b |
T |
A |
12: 5,060,390 (GRCm39) |
|
probably null |
Het |
| Baz2a |
T |
C |
10: 127,961,139 (GRCm39) |
S1621P |
possibly damaging |
Het |
| BC028528 |
CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT |
CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT |
3: 95,795,448 (GRCm39) |
|
probably benign |
Het |
| BC028528 |
GGTTCTGTGGTCACT |
GGTTCTGTGGTCACTAGTTCTGTGGTCACT |
3: 95,795,484 (GRCm39) |
|
probably benign |
Het |
| BC028528 |
GTCACTGGTTCTGTGGTCACTGGTTCTGTG |
GTCACTGGTTCTGTGATCACTGGTTCTGTGGTCACTGGTTCTGTG |
3: 95,795,463 (GRCm39) |
|
probably benign |
Het |
| Best1 |
T |
A |
19: 9,966,639 (GRCm39) |
|
probably null |
Het |
| Catip |
G |
T |
1: 74,408,089 (GRCm39) |
E474* |
probably null |
Het |
| Comp |
A |
G |
8: 70,826,509 (GRCm39) |
D28G |
probably benign |
Het |
| Crebbp |
G |
A |
16: 3,944,353 (GRCm39) |
R600W |
probably benign |
Het |
| Cyfip1 |
A |
G |
7: 55,521,997 (GRCm39) |
|
probably null |
Het |
| Ddr1 |
A |
G |
17: 35,995,174 (GRCm39) |
S675P |
probably damaging |
Het |
| Dhtkd1 |
A |
T |
2: 5,926,898 (GRCm39) |
|
probably null |
Het |
| F2rl1 |
G |
A |
13: 95,650,522 (GRCm39) |
A120V |
probably damaging |
Het |
| Fam136a |
A |
G |
6: 86,342,784 (GRCm39) |
N24D |
probably benign |
Het |
| Fbxw16 |
C |
A |
9: 109,268,657 (GRCm39) |
Q244H |
possibly damaging |
Het |
| Gabrg2 |
T |
C |
11: 41,807,119 (GRCm39) |
K373E |
probably benign |
Het |
| Herc3 |
G |
A |
6: 58,820,795 (GRCm39) |
V60I |
probably benign |
Het |
| Igkv19-93 |
T |
A |
6: 68,713,477 (GRCm39) |
K51* |
probably null |
Het |
| Krt23 |
T |
A |
11: 99,383,626 (GRCm39) |
K89* |
probably null |
Het |
| Mavs |
A |
G |
2: 131,087,395 (GRCm39) |
T298A |
probably benign |
Het |
| Mlec |
T |
C |
5: 115,288,181 (GRCm39) |
Y198C |
probably damaging |
Het |
| Ncam2 |
C |
A |
16: 81,386,689 (GRCm39) |
N689K |
probably benign |
Het |
| Nfkbia |
A |
G |
12: 55,538,546 (GRCm39) |
I82T |
probably damaging |
Het |
| Or12d14-ps1 |
A |
G |
17: 37,673,496 (GRCm39) |
I163V |
probably benign |
Het |
| Or12j2 |
A |
G |
7: 139,915,895 (GRCm39) |
N40S |
probably damaging |
Het |
| Or7a35 |
A |
T |
10: 78,853,341 (GRCm39) |
I62F |
probably benign |
Het |
| Or8b43 |
A |
G |
9: 38,360,942 (GRCm39) |
Y258C |
probably damaging |
Het |
| Pom121l2 |
A |
T |
13: 22,166,796 (GRCm39) |
I356F |
probably benign |
Het |
| Ppip5k1 |
A |
T |
2: 121,168,096 (GRCm39) |
L719Q |
probably damaging |
Het |
| Satb1 |
A |
T |
17: 52,089,752 (GRCm39) |
V365D |
possibly damaging |
Het |
| Scrn2 |
T |
C |
11: 96,921,712 (GRCm39) |
Y61H |
probably damaging |
Het |
| Siglec1 |
C |
T |
2: 130,914,602 (GRCm39) |
V1505M |
probably damaging |
Het |
| Slc2a10 |
A |
G |
2: 165,356,802 (GRCm39) |
N154S |
probably damaging |
Het |
| Slc39a10 |
A |
T |
1: 46,874,290 (GRCm39) |
H337Q |
probably benign |
Het |
| Slc39a12 |
T |
A |
2: 14,404,939 (GRCm39) |
|
probably null |
Het |
| Slc6a6 |
T |
G |
6: 91,701,832 (GRCm39) |
L80R |
probably damaging |
Het |
| Slit1 |
T |
C |
19: 41,590,074 (GRCm39) |
Y1404C |
probably damaging |
Het |
| Sowahc |
A |
G |
10: 59,059,121 (GRCm39) |
E419G |
probably damaging |
Het |
| Ssh1 |
T |
C |
5: 114,095,441 (GRCm39) |
|
probably null |
Het |
| Stab1 |
C |
A |
14: 30,874,552 (GRCm39) |
C952F |
probably damaging |
Het |
| Stat5a |
T |
C |
11: 100,765,850 (GRCm39) |
M312T |
possibly damaging |
Het |
| Tex2 |
A |
G |
11: 106,439,562 (GRCm39) |
I606T |
unknown |
Het |
| Tex55 |
T |
C |
16: 38,648,809 (GRCm39) |
E100G |
possibly damaging |
Het |
| Vmn1r19 |
A |
G |
6: 57,381,813 (GRCm39) |
H122R |
possibly damaging |
Het |
| Zfp959 |
A |
G |
17: 56,204,886 (GRCm39) |
I308V |
probably benign |
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 |
|
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 |
|
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'- AAGTGGCAGTACAGCTCAGAC -3'
(R):5'- TGTCATTTTCAGGTGCACATC -3'
Sequencing Primer
(F):5'- TGGCAGTACAGCTCAGACAAGAAC -3'
(R):5'- AGGTGCACATCTTCTCTCTCAG -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation