Incidental Mutation 'R9520:Fbxw10'
ID |
718838 |
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 |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.060)
|
Stock # |
R9520 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
62737895-62768291 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 62750842 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Asparagine
at position 475
(S475N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000135870
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036085]
[ENSMUST00000150989]
[ENSMUST00000176577]
[ENSMUST00000177336]
|
AlphaFold |
Q5SUS0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000036085
AA Change: S485N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000046156 Gene: ENSMUSG00000090173 AA Change: S485N
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: S475N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000117872 Gene: ENSMUSG00000090173 AA Change: S475N
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: S475N
PolyPhen 2
Score 0.518 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000135870 Gene: ENSMUSG00000090173 AA Change: S475N
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: S475N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000135294 Gene: ENSMUSG00000090173 AA Change: S475N
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: 99.7%
- 20x: 99.1%
|
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: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb9 |
T |
C |
5: 124,228,176 (GRCm39) |
T22A |
possibly damaging |
Het |
Ackr3 |
T |
A |
1: 90,141,971 (GRCm39) |
Y143* |
probably null |
Het |
Actn1 |
A |
T |
12: 80,240,417 (GRCm39) |
D223E |
probably damaging |
Het |
Apcdd1 |
C |
T |
18: 63,083,190 (GRCm39) |
T340I |
possibly damaging |
Het |
B4galnt1 |
G |
A |
10: 127,006,580 (GRCm39) |
E375K |
probably damaging |
Het |
Cacna1b |
A |
T |
2: 24,651,799 (GRCm39) |
S127T |
probably damaging |
Het |
Cbr3 |
A |
G |
16: 93,487,318 (GRCm39) |
D167G |
probably benign |
Het |
Cdcp1 |
A |
T |
9: 123,012,736 (GRCm39) |
N270K |
possibly damaging |
Het |
Cep131 |
A |
G |
11: 119,968,157 (GRCm39) |
V128A |
probably benign |
Het |
Cfhr4 |
A |
G |
1: 139,682,135 (GRCm39) |
S154P |
probably damaging |
Het |
Chek1 |
T |
C |
9: 36,625,121 (GRCm39) |
E320G |
probably benign |
Het |
Cit |
T |
A |
5: 116,079,954 (GRCm39) |
L755* |
probably null |
Het |
Clstn2 |
A |
T |
9: 97,414,763 (GRCm39) |
L377Q |
probably damaging |
Het |
Cpne9 |
A |
T |
6: 113,281,413 (GRCm39) |
D498V |
probably damaging |
Het |
Csad |
A |
G |
15: 102,097,102 (GRCm39) |
M1T |
probably null |
Het |
Csmd3 |
A |
G |
15: 47,561,608 (GRCm39) |
F1323L |
|
Het |
Dennd2c |
A |
T |
3: 103,044,484 (GRCm39) |
Q355L |
probably benign |
Het |
Foxi3 |
A |
G |
6: 70,937,676 (GRCm39) |
S303G |
probably damaging |
Het |
Glra1 |
G |
C |
11: 55,405,897 (GRCm39) |
F372L |
probably benign |
Het |
Gm19410 |
A |
G |
8: 36,262,637 (GRCm39) |
E858G |
probably benign |
Het |
Gm7168 |
T |
A |
17: 14,169,506 (GRCm39) |
V291D |
probably benign |
Het |
Gpr15lg |
T |
A |
14: 36,829,343 (GRCm39) |
T47S |
possibly damaging |
Het |
Grin2b |
T |
C |
6: 135,710,399 (GRCm39) |
Y1049C |
probably damaging |
Het |
Grm2 |
A |
G |
9: 106,525,230 (GRCm39) |
L24P |
|
Het |
Guca1a |
T |
A |
17: 47,711,335 (GRCm39) |
I4F |
probably benign |
Het |
H6pd |
T |
C |
4: 150,080,375 (GRCm39) |
I157V |
possibly damaging |
Het |
Hectd3 |
T |
A |
4: 116,857,882 (GRCm39) |
M605K |
probably damaging |
Het |
Hsf2 |
T |
A |
10: 57,371,996 (GRCm39) |
N32K |
probably damaging |
Het |
Hspa1l |
T |
A |
17: 35,196,972 (GRCm39) |
V337D |
probably damaging |
Het |
Iigp1 |
A |
T |
18: 60,523,451 (GRCm39) |
T190S |
probably benign |
Het |
Iqgap1 |
T |
C |
7: 80,393,869 (GRCm39) |
R622G |
probably benign |
Het |
Lce1a1 |
A |
T |
3: 92,554,109 (GRCm39) |
C122S |
unknown |
Het |
Lrfn4 |
C |
T |
19: 4,664,237 (GRCm39) |
R99H |
probably damaging |
Het |
Lsm1 |
T |
A |
8: 26,283,744 (GRCm39) |
V52E |
possibly damaging |
Het |
Malrd1 |
G |
A |
2: 16,079,631 (GRCm39) |
V1783I |
unknown |
Het |
Mast4 |
T |
C |
13: 102,925,532 (GRCm39) |
K464R |
probably damaging |
Het |
Mpdz |
T |
C |
4: 81,304,555 (GRCm39) |
D115G |
probably benign |
Het |
Mtmr3 |
A |
T |
11: 4,441,131 (GRCm39) |
H507Q |
probably damaging |
Het |
Mycbp2 |
T |
A |
14: 103,497,705 (GRCm39) |
M956L |
probably benign |
Het |
Myo3b |
A |
G |
2: 70,062,753 (GRCm39) |
T346A |
possibly damaging |
Het |
Ndrg2 |
T |
C |
14: 52,146,381 (GRCm39) |
I140V |
probably benign |
Het |
Nsf |
A |
G |
11: 103,804,709 (GRCm39) |
L144P |
probably damaging |
Het |
Or2a25 |
T |
C |
6: 42,889,051 (GRCm39) |
V198A |
probably damaging |
Het |
Or8d2b |
C |
T |
9: 38,789,039 (GRCm39) |
T189I |
probably benign |
Het |
Pck1 |
G |
A |
2: 172,997,854 (GRCm39) |
V308M |
probably damaging |
Het |
Phip |
C |
T |
9: 82,753,437 (GRCm39) |
R1769K |
possibly damaging |
Het |
Plekhg1 |
T |
A |
10: 3,906,822 (GRCm39) |
C635S |
|
Het |
Ppp4r4 |
A |
G |
12: 103,500,378 (GRCm39) |
I58V |
probably benign |
Het |
Prkacb |
T |
C |
3: 146,456,289 (GRCm39) |
Y170C |
probably damaging |
Het |
Rnf145 |
A |
T |
11: 44,452,336 (GRCm39) |
E438D |
possibly damaging |
Het |
Rnf207 |
T |
C |
4: 152,396,234 (GRCm39) |
Y510C |
probably damaging |
Het |
Rph3a |
C |
T |
5: 121,101,903 (GRCm39) |
C111Y |
probably damaging |
Het |
Scaf8 |
C |
T |
17: 3,248,285 (GRCm39) |
R1203W |
probably damaging |
Het |
Sec23a |
T |
G |
12: 59,031,974 (GRCm39) |
I448L |
probably benign |
Het |
Slc22a27 |
T |
C |
19: 7,843,227 (GRCm39) |
Y492C |
possibly damaging |
Het |
Supv3l1 |
T |
C |
10: 62,268,181 (GRCm39) |
K555E |
probably damaging |
Het |
Tdrd3 |
T |
C |
14: 87,724,696 (GRCm39) |
S372P |
probably damaging |
Het |
Tgm1 |
A |
G |
14: 55,942,296 (GRCm39) |
F685S |
probably damaging |
Het |
Usp48 |
G |
A |
4: 137,340,996 (GRCm39) |
G332E |
probably benign |
Het |
Vmn2r11 |
T |
C |
5: 109,201,455 (GRCm39) |
T350A |
probably benign |
Het |
Vmn2r25 |
A |
T |
6: 123,830,066 (GRCm39) |
Y28* |
probably null |
Het |
Vmn2r85 |
T |
A |
10: 130,254,993 (GRCm39) |
I564L |
probably benign |
Het |
Wdr26 |
G |
T |
1: 181,036,587 (GRCm39) |
T183K |
probably benign |
Het |
Yjefn3 |
A |
T |
8: 70,341,969 (GRCm39) |
Y97N |
probably damaging |
Het |
Zbtb38 |
A |
T |
9: 96,568,104 (GRCm39) |
D993E |
probably damaging |
Het |
Zbtb45 |
T |
C |
7: 12,742,012 (GRCm39) |
Q82R |
probably damaging |
Het |
Zdhhc8 |
A |
G |
16: 18,045,044 (GRCm39) |
V254A |
probably benign |
Het |
Zfp648 |
A |
G |
1: 154,081,221 (GRCm39) |
D460G |
probably benign |
Het |
Zfp760 |
T |
G |
17: 21,941,036 (GRCm39) |
N70K |
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 |
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 |
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'- GGCAAAAGTCAGGTGTTGTG -3'
(R):5'- ATGCCGACATCTGATAGCTTAC -3'
Sequencing Primer
(F):5'- GGAAGGACACTAACTCTTTCCTC -3'
(R):5'- TGCCGACATCTGATAGCTTACAAATC -3'
|
Posted On |
2022-07-18 |