Incidental Mutation 'IGL02457:Fbxw10'
| ID |
294450 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fbxw10
|
| Ensembl Gene |
ENSMUSG00000090173 |
| Gene Name |
F-box and WD-40 domain protein 10 |
| Synonyms |
SM2SH2, SM25H2, Fbw10 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.066)
|
| Stock # |
IGL02457
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
62737895-62768291 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 62765808 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 698
(F698L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046156
(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 damaging
Transcript: ENSMUST00000036085
AA Change: F698L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000046156
Gene: ENSMUSG00000090173
AA Change: F698L
| 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 |
noncoding transcript
Transcript: ENSMUST00000128698
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000150989
AA Change: F688L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000117872
Gene: ENSMUSG00000090173
AA Change: F688L
| 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 |
noncoding transcript
Transcript: ENSMUST00000154176
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176577
AA Change: F693L
PolyPhen 2
Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000135870
Gene: ENSMUSG00000090173
AA Change: F693L
| 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 |
silent
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 |
|
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd16b |
A |
G |
2: 181,136,127 (GRCm39) |
D343G |
probably benign |
Het |
| Acot10 |
T |
C |
15: 20,666,229 (GRCm39) |
S171G |
possibly damaging |
Het |
| Actr3b |
T |
C |
5: 26,054,160 (GRCm39) |
|
probably null |
Het |
| Adamts17 |
T |
C |
7: 66,677,562 (GRCm39) |
M492T |
probably damaging |
Het |
| Akap4 |
A |
C |
X: 6,943,707 (GRCm39) |
N670T |
probably benign |
Het |
| Atrip |
A |
G |
9: 108,894,299 (GRCm39) |
S55P |
possibly damaging |
Het |
| Bend3 |
A |
T |
10: 43,385,946 (GRCm39) |
E113V |
probably damaging |
Het |
| Ccdc158 |
A |
C |
5: 92,797,907 (GRCm39) |
I411S |
probably damaging |
Het |
| Cfap97 |
G |
T |
8: 46,623,315 (GRCm39) |
C235F |
possibly damaging |
Het |
| Chil4 |
T |
C |
3: 106,121,715 (GRCm39) |
N45D |
probably benign |
Het |
| Cripto |
C |
T |
9: 110,771,691 (GRCm39) |
C32Y |
probably damaging |
Het |
| D430041D05Rik |
A |
G |
2: 104,079,690 (GRCm39) |
V1131A |
probably damaging |
Het |
| Defb38 |
T |
C |
8: 19,076,552 (GRCm39) |
|
probably benign |
Het |
| Dnah10 |
T |
A |
5: 124,866,860 (GRCm39) |
W2260R |
probably damaging |
Het |
| Ecsit |
A |
G |
9: 21,989,500 (GRCm39) |
S14P |
probably damaging |
Het |
| Eif3l |
T |
C |
15: 78,962,296 (GRCm39) |
F106L |
probably benign |
Het |
| Erich5 |
G |
T |
15: 34,470,999 (GRCm39) |
G76V |
probably damaging |
Het |
| Evpl |
A |
G |
11: 116,120,939 (GRCm39) |
L432P |
possibly damaging |
Het |
| Frem2 |
A |
T |
3: 53,428,470 (GRCm39) |
S2866T |
probably damaging |
Het |
| Fuca1 |
G |
A |
4: 135,662,073 (GRCm39) |
V334I |
probably benign |
Het |
| Hprt1 |
T |
A |
X: 52,091,010 (GRCm39) |
H60Q |
probably benign |
Het |
| Kirrel2 |
T |
C |
7: 30,152,165 (GRCm39) |
N481S |
probably damaging |
Het |
| Krt16 |
A |
T |
11: 100,137,162 (GRCm39) |
|
probably benign |
Het |
| Lilrb4b |
T |
A |
10: 51,357,334 (GRCm39) |
Y57N |
probably benign |
Het |
| Lix1l |
A |
G |
3: 96,521,792 (GRCm39) |
Y126C |
probably damaging |
Het |
| Lox |
T |
C |
18: 52,654,388 (GRCm39) |
D347G |
probably damaging |
Het |
| Mak16 |
C |
T |
8: 31,654,753 (GRCm39) |
R147Q |
possibly damaging |
Het |
| Ndst2 |
G |
A |
14: 20,779,622 (GRCm39) |
A206V |
possibly damaging |
Het |
| Or1ak2 |
A |
T |
2: 36,827,760 (GRCm39) |
I210F |
probably damaging |
Het |
| Or2q1 |
T |
A |
6: 42,795,176 (GRCm39) |
I257N |
probably damaging |
Het |
| Phldb1 |
T |
C |
9: 44,627,771 (GRCm39) |
M225V |
probably benign |
Het |
| Pofut1 |
C |
T |
2: 153,090,516 (GRCm39) |
Q137* |
probably null |
Het |
| Polr2a |
T |
C |
11: 69,634,076 (GRCm39) |
|
probably benign |
Het |
| Prdm5 |
T |
A |
6: 65,858,100 (GRCm39) |
L388Q |
probably damaging |
Het |
| Rad51c |
A |
G |
11: 87,271,681 (GRCm39) |
S344P |
possibly damaging |
Het |
| Scart1 |
G |
A |
7: 139,800,308 (GRCm39) |
G30S |
probably benign |
Het |
| Sdk1 |
C |
T |
5: 141,938,771 (GRCm39) |
P398L |
probably damaging |
Het |
| Sec63 |
G |
A |
10: 42,677,729 (GRCm39) |
|
probably benign |
Het |
| Sgo1 |
A |
T |
17: 53,983,989 (GRCm39) |
L463Q |
probably damaging |
Het |
| Slc5a6 |
A |
G |
5: 31,198,002 (GRCm39) |
L291P |
probably damaging |
Het |
| Smarcb1 |
T |
C |
10: 75,757,205 (GRCm39) |
T9A |
probably benign |
Het |
| Sp3 |
A |
G |
2: 72,801,813 (GRCm39) |
W67R |
probably damaging |
Het |
| Ssxb9 |
A |
C |
X: 21,041,234 (GRCm39) |
S23A |
probably benign |
Het |
| Syne1 |
A |
G |
10: 5,292,167 (GRCm39) |
L1367S |
probably damaging |
Het |
| Tbc1d23 |
T |
A |
16: 56,990,754 (GRCm39) |
I690F |
probably damaging |
Het |
| Tmed5 |
A |
T |
5: 108,272,416 (GRCm39) |
S227R |
probably benign |
Het |
| Tnrc6c |
T |
A |
11: 117,613,803 (GRCm39) |
S814T |
probably benign |
Het |
| Trbv2 |
C |
T |
6: 41,024,905 (GRCm39) |
T107I |
probably benign |
Het |
| Trpm6 |
T |
C |
19: 18,803,155 (GRCm39) |
V866A |
probably damaging |
Het |
| Trpm6 |
A |
T |
19: 18,804,762 (GRCm39) |
K905* |
probably null |
Het |
| Ttn |
A |
G |
2: 76,539,654 (GRCm39) |
V34444A |
probably benign |
Het |
| Vmn1r86 |
C |
T |
7: 12,836,707 (GRCm39) |
M56I |
probably benign |
Het |
| Vmn2r17 |
A |
C |
5: 109,601,012 (GRCm39) |
D770A |
probably damaging |
Het |
| Wnk4 |
T |
C |
11: 101,160,389 (GRCm39) |
|
probably benign |
Het |
| Xaf1 |
T |
C |
11: 72,194,257 (GRCm39) |
M46T |
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 |
|
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 |
|
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 |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation