Incidental Mutation 'R6028:Fbxw10'
ID |
480192 |
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 |
044200-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.066)
|
Stock # |
R6028 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
62737895-62768291 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to T
at 62764345 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Stop codon
at position 671
(Q671*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000135870
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036085]
[ENSMUST00000150989]
[ENSMUST00000176577]
[ENSMUST00000177336]
|
AlphaFold |
Q5SUS0 |
Predicted Effect |
probably null
Transcript: ENSMUST00000036085
AA Change: Q681*
|
SMART Domains |
Protein: ENSMUSP00000046156 Gene: ENSMUSG00000090173 AA Change: Q681*
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 |
noncoding transcript
Transcript: ENSMUST00000127646
|
Predicted Effect |
probably null
Transcript: ENSMUST00000150989
AA Change: Q671*
|
SMART Domains |
Protein: ENSMUSP00000117872 Gene: ENSMUSG00000090173 AA Change: Q671*
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 null
Transcript: ENSMUST00000176577
AA Change: Q671*
|
SMART Domains |
Protein: ENSMUSP00000135870 Gene: ENSMUSG00000090173 AA Change: Q671*
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 |
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.8%
|
Validation Efficiency |
100% (72/72) |
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: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1810062G17Rik |
T |
A |
3: 36,533,718 (GRCm39) |
|
probably null |
Het |
Acat1 |
A |
T |
9: 53,503,366 (GRCm39) |
Y158N |
probably damaging |
Het |
Adamtsl1 |
C |
A |
4: 86,260,561 (GRCm39) |
A924E |
probably damaging |
Het |
Adck1 |
A |
T |
12: 88,368,902 (GRCm39) |
M127L |
probably benign |
Het |
Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
Alad |
G |
T |
4: 62,428,359 (GRCm39) |
T305K |
probably benign |
Het |
Ankrd33 |
T |
C |
15: 101,016,953 (GRCm39) |
F65S |
probably damaging |
Het |
Ap3d1 |
T |
C |
10: 80,558,761 (GRCm39) |
N281S |
possibly damaging |
Het |
Arhgap30 |
A |
G |
1: 171,235,888 (GRCm39) |
D754G |
probably benign |
Het |
Asah2 |
T |
C |
19: 31,993,914 (GRCm39) |
D438G |
probably damaging |
Het |
Cachd1 |
C |
A |
4: 100,840,753 (GRCm39) |
N905K |
probably damaging |
Het |
Cdh23 |
G |
T |
10: 60,370,314 (GRCm39) |
D160E |
probably damaging |
Het |
Cntln |
T |
A |
4: 84,889,410 (GRCm39) |
S298T |
probably benign |
Het |
Cplx3 |
A |
G |
9: 57,515,546 (GRCm39) |
I443T |
probably damaging |
Het |
Dnah5 |
T |
A |
15: 28,387,979 (GRCm39) |
M3146K |
probably damaging |
Het |
Doc2b |
C |
A |
11: 75,663,412 (GRCm39) |
A347S |
probably benign |
Het |
Efcab3 |
T |
C |
11: 104,660,481 (GRCm39) |
|
probably null |
Het |
Eif1ad16 |
A |
T |
12: 87,985,131 (GRCm39) |
D137E |
possibly damaging |
Het |
Eps8l2 |
T |
C |
7: 140,937,746 (GRCm39) |
F422S |
possibly damaging |
Het |
Esm1 |
A |
G |
13: 113,353,201 (GRCm39) |
N161S |
possibly damaging |
Het |
Fnbp4 |
C |
A |
2: 90,581,478 (GRCm39) |
T177K |
probably benign |
Het |
Gpr137c |
C |
A |
14: 45,514,938 (GRCm39) |
Q266K |
probably damaging |
Het |
Hax1 |
GTCATCATCATCATCATC |
GTCATCATCATCATCATCATC |
3: 89,905,247 (GRCm39) |
|
probably benign |
Het |
Hk1 |
C |
A |
10: 62,188,837 (GRCm39) |
K25N |
probably null |
Het |
Klhl29 |
G |
T |
12: 5,140,995 (GRCm39) |
Y616* |
probably null |
Het |
Lmnb1 |
T |
G |
18: 56,876,348 (GRCm39) |
Y485* |
probably null |
Het |
Lrrc63 |
A |
G |
14: 75,323,614 (GRCm39) |
S537P |
possibly damaging |
Het |
Ltbp2 |
T |
A |
12: 84,831,626 (GRCm39) |
N1686I |
probably damaging |
Het |
Map9 |
T |
A |
3: 82,287,555 (GRCm39) |
|
probably null |
Het |
Marco |
T |
A |
1: 120,418,671 (GRCm39) |
Q194L |
probably damaging |
Het |
Mc3r |
A |
T |
2: 172,091,129 (GRCm39) |
D117V |
probably damaging |
Het |
Meltf |
T |
A |
16: 31,706,294 (GRCm39) |
D259E |
possibly damaging |
Het |
Mical1 |
A |
T |
10: 41,362,873 (GRCm39) |
M973L |
probably benign |
Het |
Mmp21 |
T |
C |
7: 133,280,443 (GRCm39) |
T176A |
probably benign |
Het |
Mterf1b |
T |
A |
5: 4,247,666 (GRCm39) |
|
probably null |
Het |
Muc16 |
G |
A |
9: 18,568,472 (GRCm39) |
S1349F |
unknown |
Het |
Nacc2 |
A |
G |
2: 25,951,590 (GRCm39) |
V415A |
probably damaging |
Het |
Ncl |
A |
G |
1: 86,283,855 (GRCm39) |
V322A |
probably benign |
Het |
Neb |
G |
A |
2: 52,083,243 (GRCm39) |
T1639I |
probably damaging |
Het |
Nfia |
A |
G |
4: 97,999,488 (GRCm39) |
H485R |
possibly damaging |
Het |
Nlrp9a |
C |
T |
7: 26,257,762 (GRCm39) |
T460I |
probably benign |
Het |
Or8g24 |
T |
A |
9: 38,989,379 (GRCm39) |
I221F |
probably damaging |
Het |
Or8k32 |
T |
A |
2: 86,369,113 (GRCm39) |
I49F |
possibly damaging |
Het |
Patl2 |
T |
A |
2: 121,956,618 (GRCm39) |
Q158L |
possibly damaging |
Het |
Pja2 |
T |
C |
17: 64,616,085 (GRCm39) |
D270G |
probably benign |
Het |
Pkd1l1 |
T |
C |
11: 8,786,267 (GRCm39) |
H1929R |
probably benign |
Het |
Plekhh3 |
A |
T |
11: 101,057,396 (GRCm39) |
M287K |
probably damaging |
Het |
Polb |
G |
T |
8: 23,130,011 (GRCm39) |
S187* |
probably null |
Het |
Popdc3 |
A |
G |
10: 45,194,015 (GRCm39) |
D272G |
probably benign |
Het |
Prkar2b |
A |
T |
12: 32,043,757 (GRCm39) |
D121E |
possibly damaging |
Het |
Psmd3 |
T |
A |
11: 98,576,491 (GRCm39) |
L131Q |
probably damaging |
Het |
Ptcd3 |
A |
T |
6: 71,875,392 (GRCm39) |
C197S |
probably damaging |
Het |
Ptprf |
A |
T |
4: 118,070,826 (GRCm39) |
V1391D |
probably benign |
Het |
Purb |
A |
G |
11: 6,425,150 (GRCm39) |
F246S |
probably damaging |
Het |
Rgs8 |
C |
A |
1: 153,566,734 (GRCm39) |
T95N |
probably damaging |
Het |
Slc2a13 |
T |
C |
15: 91,160,319 (GRCm39) |
N545S |
probably damaging |
Het |
Smpd2 |
A |
G |
10: 41,365,344 (GRCm39) |
W51R |
probably damaging |
Het |
Srgap1 |
T |
C |
10: 121,664,635 (GRCm39) |
Q490R |
probably null |
Het |
Strbp |
G |
A |
2: 37,515,267 (GRCm39) |
T253I |
probably damaging |
Het |
Sult1d1 |
A |
T |
5: 87,707,685 (GRCm39) |
M145K |
probably damaging |
Het |
Taf5l |
A |
C |
8: 124,729,714 (GRCm39) |
|
probably null |
Het |
Tas2r131 |
T |
G |
6: 132,934,639 (GRCm39) |
I57L |
probably benign |
Het |
Tcf25 |
A |
G |
8: 124,108,176 (GRCm39) |
N77S |
possibly damaging |
Het |
Tmem253 |
A |
G |
14: 52,255,268 (GRCm39) |
T57A |
possibly damaging |
Het |
Tspan17 |
A |
G |
13: 54,941,111 (GRCm39) |
N130S |
probably damaging |
Het |
Utrn |
T |
C |
10: 12,530,460 (GRCm39) |
S2118G |
probably benign |
Het |
Vmn2r3 |
T |
A |
3: 64,182,698 (GRCm39) |
T334S |
probably benign |
Het |
Wnk2 |
G |
T |
13: 49,229,821 (GRCm39) |
A901E |
probably damaging |
Het |
Zc3hav1 |
T |
C |
6: 38,284,275 (GRCm39) |
T947A |
probably benign |
Het |
Zfhx3 |
C |
T |
8: 109,520,135 (GRCm39) |
P419L |
probably damaging |
Het |
Zfp292 |
A |
G |
4: 34,819,549 (GRCm39) |
S258P |
probably damaging |
Het |
Zfp964 |
A |
G |
8: 70,116,563 (GRCm39) |
T388A |
unknown |
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 |
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'- AATCTGTTTCCACCTGGCAG -3'
(R):5'- TACACACAGCTCTGACTGGAC -3'
Sequencing Primer
(F):5'- CTGGCAGGTGTTGTCTTCCC -3'
(R):5'- GACTGGACCCTGATCACTAAGTCTG -3'
|
Posted On |
2017-06-26 |