Incidental Mutation 'IGL01960:Fbxw10'
ID |
182351 |
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 # |
IGL01960
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
62737895-62768291 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 62767582 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Phenylalanine
at position 801
(Y801F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000117872
(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: Y811F
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000046156 Gene: ENSMUSG00000090173 AA Change: Y811F
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: Y801F
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000117872 Gene: ENSMUSG00000090173 AA Change: Y801F
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 |
possibly damaging
Transcript: ENSMUST00000176577
AA Change: Y806F
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000135870 Gene: ENSMUSG00000090173 AA Change: Y806F
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 |
|
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrb2 |
G |
A |
4: 129,906,177 (GRCm39) |
|
probably benign |
Het |
Adh7 |
T |
C |
3: 137,932,043 (GRCm39) |
I219T |
probably damaging |
Het |
Ankmy1 |
C |
A |
1: 92,799,385 (GRCm39) |
|
probably benign |
Het |
Aoc1 |
A |
G |
6: 48,885,537 (GRCm39) |
I681V |
probably benign |
Het |
Arfgap3 |
T |
C |
15: 83,197,758 (GRCm39) |
T333A |
probably benign |
Het |
Cdc42ep4 |
A |
G |
11: 113,619,830 (GRCm39) |
V187A |
probably benign |
Het |
Cyp4f40 |
G |
A |
17: 32,878,535 (GRCm39) |
G26R |
probably benign |
Het |
Dnah7b |
T |
A |
1: 46,163,497 (GRCm39) |
|
probably benign |
Het |
Dnajb4 |
T |
C |
3: 151,892,176 (GRCm39) |
E219G |
probably damaging |
Het |
Dnmt3b |
A |
G |
2: 153,518,631 (GRCm39) |
K578R |
possibly damaging |
Het |
Dst |
A |
T |
1: 34,329,570 (GRCm39) |
D4649V |
probably damaging |
Het |
Fam20c |
T |
C |
5: 138,792,075 (GRCm39) |
S391P |
probably damaging |
Het |
Frem2 |
T |
G |
3: 53,429,725 (GRCm39) |
E2775A |
probably benign |
Het |
Frmd4b |
A |
T |
6: 97,272,741 (GRCm39) |
S830T |
possibly damaging |
Het |
Gatad2a |
T |
G |
8: 70,362,598 (GRCm39) |
S581R |
possibly damaging |
Het |
Gpcpd1 |
C |
T |
2: 132,381,818 (GRCm39) |
|
probably null |
Het |
Igsf10 |
A |
G |
3: 59,226,158 (GRCm39) |
L2505P |
probably benign |
Het |
Igsf9b |
A |
G |
9: 27,239,902 (GRCm39) |
D649G |
possibly damaging |
Het |
Impact |
T |
C |
18: 13,107,815 (GRCm39) |
C28R |
probably benign |
Het |
Ino80d |
G |
T |
1: 63,097,306 (GRCm39) |
Q863K |
probably damaging |
Het |
Iqsec1 |
A |
C |
6: 90,653,762 (GRCm39) |
M675R |
probably damaging |
Het |
Kcng3 |
C |
T |
17: 83,895,279 (GRCm39) |
V396I |
probably damaging |
Het |
Klhl18 |
A |
T |
9: 110,279,814 (GRCm39) |
D60E |
probably benign |
Het |
Krtap7-1 |
C |
T |
16: 89,305,156 (GRCm39) |
|
probably benign |
Het |
Mal2 |
T |
A |
15: 54,461,941 (GRCm39) |
Y145* |
probably null |
Het |
Mcpt8 |
A |
T |
14: 56,319,864 (GRCm39) |
|
probably null |
Het |
Mdn1 |
A |
G |
4: 32,758,393 (GRCm39) |
D4810G |
probably benign |
Het |
Med24 |
T |
C |
11: 98,598,368 (GRCm39) |
I766V |
probably benign |
Het |
Mga |
G |
A |
2: 119,769,138 (GRCm39) |
V1477M |
probably damaging |
Het |
Mybph |
T |
A |
1: 134,121,663 (GRCm39) |
V112E |
probably benign |
Het |
Nmur2 |
A |
T |
11: 55,931,337 (GRCm39) |
S125T |
probably damaging |
Het |
Or2w3 |
T |
C |
11: 58,556,691 (GRCm39) |
V102A |
probably benign |
Het |
Or6c212 |
A |
G |
10: 129,558,756 (GRCm39) |
I219T |
probably damaging |
Het |
Or8b44 |
A |
T |
9: 38,410,003 (GRCm39) |
I13F |
probably damaging |
Het |
Otop3 |
A |
G |
11: 115,231,795 (GRCm39) |
N220S |
probably damaging |
Het |
Pacsin1 |
T |
G |
17: 27,923,809 (GRCm39) |
|
probably null |
Het |
Pcsk1 |
A |
G |
13: 75,241,286 (GRCm39) |
R89G |
possibly damaging |
Het |
Pde2a |
A |
T |
7: 101,153,947 (GRCm39) |
E509V |
probably benign |
Het |
Pex1 |
T |
C |
5: 3,677,588 (GRCm39) |
|
probably benign |
Het |
Ppp4r4 |
T |
G |
12: 103,547,753 (GRCm39) |
|
probably benign |
Het |
Pygb |
T |
A |
2: 150,655,403 (GRCm39) |
N251K |
probably benign |
Het |
Rsf1 |
C |
T |
7: 97,310,782 (GRCm39) |
T504I |
probably benign |
Het |
Slc5a11 |
A |
T |
7: 122,869,163 (GRCm39) |
T584S |
probably benign |
Het |
Smad2 |
G |
A |
18: 76,395,555 (GRCm39) |
|
probably benign |
Het |
Srsf6 |
G |
A |
2: 162,775,674 (GRCm39) |
R161H |
probably damaging |
Het |
Tbx3 |
T |
A |
5: 119,820,708 (GRCm39) |
S573T |
probably benign |
Het |
Tecpr1 |
C |
T |
5: 144,153,737 (GRCm39) |
R172Q |
probably benign |
Het |
Ttn |
T |
A |
2: 76,619,244 (GRCm39) |
|
probably null |
Het |
Ubr2 |
T |
C |
17: 47,284,893 (GRCm39) |
M542V |
probably benign |
Het |
Unc80 |
T |
C |
1: 66,647,659 (GRCm39) |
|
probably benign |
Het |
Vmn1r222 |
T |
A |
13: 23,416,315 (GRCm39) |
K299N |
probably benign |
Het |
Wwp1 |
A |
T |
4: 19,662,115 (GRCm39) |
|
probably benign |
Het |
Zbtb46 |
T |
A |
2: 181,065,928 (GRCm39) |
H74L |
possibly damaging |
Het |
Zfp106 |
A |
T |
2: 120,354,524 (GRCm39) |
L1416I |
probably damaging |
Het |
Zfp106 |
A |
G |
2: 120,369,803 (GRCm39) |
L73S |
probably benign |
Het |
Zfp667 |
G |
A |
7: 6,308,336 (GRCm39) |
G335R |
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 |
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 |
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 |
2014-05-07 |