Incidental Mutation 'R2211:Fbxw10'
ID |
239394 |
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 |
040213-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.066)
|
Stock # |
R2211 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
62737895-62768291 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 62758361 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 529
(T529A)
|
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: T539A
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000046156 Gene: ENSMUSG00000090173 AA Change: T539A
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: T529A
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000117872 Gene: ENSMUSG00000090173 AA Change: T529A
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: T529A
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000135870 Gene: ENSMUSG00000090173 AA Change: T529A
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: T529A
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000135294 Gene: ENSMUSG00000090173 AA Change: T529A
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: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.5%
|
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: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam18 |
A |
G |
8: 25,118,171 (GRCm39) |
S34P |
probably damaging |
Het |
Adam23 |
T |
A |
1: 63,612,288 (GRCm39) |
|
probably benign |
Het |
Adcy10 |
A |
T |
1: 165,345,781 (GRCm39) |
I277F |
probably damaging |
Het |
Arfgef3 |
A |
T |
10: 18,467,993 (GRCm39) |
S1736T |
possibly damaging |
Het |
Arhgap21 |
A |
T |
2: 20,886,451 (GRCm39) |
M242K |
possibly damaging |
Het |
Arhgef18 |
T |
C |
8: 3,437,680 (GRCm39) |
S268P |
possibly damaging |
Het |
Astn1 |
A |
G |
1: 158,484,876 (GRCm39) |
R4G |
probably benign |
Het |
AU041133 |
G |
A |
10: 81,986,755 (GRCm39) |
C135Y |
probably damaging |
Het |
Cdc42bpb |
A |
G |
12: 111,268,288 (GRCm39) |
V53A |
probably benign |
Het |
Cdh23 |
T |
C |
10: 60,301,783 (GRCm39) |
D428G |
possibly damaging |
Het |
Cebpa |
T |
C |
7: 34,819,891 (GRCm39) |
S350P |
probably damaging |
Het |
Cftr |
A |
G |
6: 18,214,279 (GRCm39) |
M152V |
probably null |
Het |
Cpa4 |
A |
G |
6: 30,583,649 (GRCm39) |
N255S |
possibly damaging |
Het |
Ddx51 |
T |
A |
5: 110,803,634 (GRCm39) |
D343E |
probably damaging |
Het |
Dnah7a |
T |
C |
1: 53,518,932 (GRCm39) |
I2942V |
probably benign |
Het |
Dnajc1 |
G |
T |
2: 18,397,286 (GRCm39) |
A9E |
probably damaging |
Het |
Dpysl5 |
G |
A |
5: 30,948,941 (GRCm39) |
D399N |
probably damaging |
Het |
Edem3 |
A |
G |
1: 151,680,453 (GRCm39) |
D526G |
possibly damaging |
Het |
Emc10 |
G |
A |
7: 44,142,616 (GRCm39) |
R109W |
probably damaging |
Het |
Etaa1 |
G |
A |
11: 17,902,686 (GRCm39) |
Q84* |
probably null |
Het |
Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
Fam149a |
G |
A |
8: 45,794,046 (GRCm39) |
T674I |
probably damaging |
Het |
Fam98a |
A |
G |
17: 75,845,940 (GRCm39) |
|
probably null |
Het |
Fat4 |
A |
G |
3: 38,945,676 (GRCm39) |
N1523S |
possibly damaging |
Het |
Gzf1 |
C |
T |
2: 148,526,870 (GRCm39) |
A447V |
probably damaging |
Het |
Hap1 |
G |
A |
11: 100,245,550 (GRCm39) |
T138M |
probably benign |
Het |
Hic1 |
T |
A |
11: 75,060,210 (GRCm39) |
R46W |
possibly damaging |
Het |
Id4 |
T |
A |
13: 48,415,278 (GRCm39) |
L102Q |
probably damaging |
Het |
Il3ra |
T |
C |
14: 14,355,029 (GRCm38) |
C271R |
probably benign |
Het |
Ints4 |
T |
C |
7: 97,158,957 (GRCm39) |
I443T |
possibly damaging |
Het |
Lmln |
A |
G |
16: 32,930,148 (GRCm39) |
E535G |
probably benign |
Het |
Lrrtm4 |
A |
G |
6: 79,999,623 (GRCm39) |
H345R |
probably benign |
Het |
Ltbp3 |
T |
C |
19: 5,803,990 (GRCm39) |
I834T |
possibly damaging |
Het |
Mnd1 |
C |
A |
3: 84,041,416 (GRCm39) |
C62F |
probably benign |
Het |
Ms4a18 |
C |
A |
19: 10,974,669 (GRCm39) |
V341L |
probably benign |
Het |
Nbr1 |
T |
C |
11: 101,458,090 (GRCm39) |
|
probably null |
Het |
Nf1 |
T |
C |
11: 79,334,890 (GRCm39) |
M914T |
probably benign |
Het |
Notch3 |
T |
A |
17: 32,366,952 (GRCm39) |
H861L |
probably benign |
Het |
Nup58 |
A |
G |
14: 60,470,089 (GRCm39) |
F341L |
probably damaging |
Het |
Ogfod2 |
C |
A |
5: 124,250,843 (GRCm39) |
|
probably null |
Het |
Oit3 |
T |
C |
10: 59,263,892 (GRCm39) |
D414G |
probably damaging |
Het |
Or6c5c |
A |
T |
10: 129,298,809 (GRCm39) |
K88M |
probably damaging |
Het |
Or6c6c |
A |
G |
10: 129,541,320 (GRCm39) |
H191R |
probably benign |
Het |
Or8k32 |
T |
C |
2: 86,368,857 (GRCm39) |
Y132C |
probably damaging |
Het |
Or9q2 |
T |
A |
19: 13,772,733 (GRCm39) |
M81L |
probably benign |
Het |
Pals1 |
A |
T |
12: 78,844,022 (GRCm39) |
K75N |
possibly damaging |
Het |
Pcbp4 |
C |
A |
9: 106,337,933 (GRCm39) |
H74Q |
probably benign |
Het |
Pip5k1b |
A |
T |
19: 24,356,214 (GRCm39) |
D241E |
probably damaging |
Het |
Plcb2 |
T |
C |
2: 118,554,015 (GRCm39) |
D102G |
probably benign |
Het |
Plekha5 |
G |
A |
6: 140,471,587 (GRCm39) |
E4K |
possibly damaging |
Het |
Ppargc1a |
A |
C |
5: 51,631,601 (GRCm39) |
S343A |
possibly damaging |
Het |
Ppwd1 |
G |
A |
13: 104,343,650 (GRCm39) |
S585L |
probably benign |
Het |
Rarg |
T |
C |
15: 102,147,959 (GRCm39) |
N284S |
probably benign |
Het |
Rnpepl1 |
C |
T |
1: 92,844,102 (GRCm39) |
L278F |
probably damaging |
Het |
Rp1 |
A |
C |
1: 4,418,362 (GRCm39) |
S917A |
probably damaging |
Het |
Rsf1 |
ATGGCG |
ATGGCGAGGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
Rsph3b |
T |
C |
17: 7,209,139 (GRCm39) |
S189G |
probably benign |
Het |
Sec31b |
A |
T |
19: 44,511,589 (GRCm39) |
L604Q |
probably damaging |
Het |
Sema6b |
T |
A |
17: 56,431,741 (GRCm39) |
I641F |
probably benign |
Het |
Slc35f5 |
A |
T |
1: 125,507,001 (GRCm39) |
I309F |
possibly damaging |
Het |
Smarca4 |
A |
G |
9: 21,597,325 (GRCm39) |
E1360G |
probably damaging |
Het |
Spata31d1c |
T |
C |
13: 65,183,753 (GRCm39) |
S432P |
probably benign |
Het |
Spsb3 |
T |
C |
17: 25,109,911 (GRCm39) |
|
probably null |
Het |
Sptbn4 |
T |
C |
7: 27,067,034 (GRCm39) |
D1960G |
probably damaging |
Het |
Srgap1 |
A |
G |
10: 121,689,645 (GRCm39) |
V345A |
possibly damaging |
Het |
Tiam2 |
C |
A |
17: 3,465,193 (GRCm39) |
C307* |
probably null |
Het |
Trim43b |
T |
A |
9: 88,967,302 (GRCm39) |
T444S |
possibly damaging |
Het |
Trmt13 |
A |
G |
3: 116,388,403 (GRCm39) |
I11T |
probably benign |
Het |
Ylpm1 |
A |
T |
12: 85,091,152 (GRCm39) |
R1073* |
probably null |
Het |
Zfp524 |
T |
C |
7: 5,020,918 (GRCm39) |
S149P |
probably damaging |
Het |
Zfp777 |
T |
C |
6: 48,020,819 (GRCm39) |
I312V |
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 |
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 |
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'- CAAGGCAGAGTTCTAGGGTC -3'
(R):5'- AGGAGCAGACCTTCATGTCC -3'
Sequencing Primer
(F):5'- TCAGAGTGAGAGTCCTCTGC -3'
(R):5'- GAGCAGACCTTCATGTCCTTGTAAC -3'
|
Posted On |
2014-10-15 |