Incidental Mutation 'IGL01351:Fbxw14'
ID |
75340 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Fbxw14
|
Ensembl Gene |
ENSMUSG00000105589 |
Gene Name |
F-box and WD-40 domain protein 14 |
Synonyms |
Fbxo12, E330009N23Rik, Fbx12 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.149)
|
Stock # |
IGL01351
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
109099858-109116744 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 109103640 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 24
(D24G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143127
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112041]
[ENSMUST00000198048]
[ENSMUST00000198844]
|
AlphaFold |
Q8C2Y5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000066901
AA Change: D347G
PolyPhen 2
Score 0.020 (Sensitivity: 0.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000066613 Gene: ENSMUSG00000054087 AA Change: D347G
Domain | Start | End | E-Value | Type |
FBOX
|
5 |
45 |
3.13e-6 |
SMART |
SCOP:d1tbga_
|
114 |
249 |
4e-9 |
SMART |
Blast:WD40
|
136 |
175 |
3e-6 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000112041
AA Change: D294G
PolyPhen 2
Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000107672 Gene: ENSMUSG00000105589 AA Change: D294G
Domain | Start | End | E-Value | Type |
FBOX
|
5 |
45 |
3.13e-6 |
SMART |
SCOP:d1tbga_
|
114 |
208 |
2e-3 |
SMART |
Blast:WD40
|
136 |
175 |
4e-6 |
BLAST |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000198048
AA Change: D24G
PolyPhen 2
Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000198844
AA Change: D347G
PolyPhen 2
Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000143404 Gene: ENSMUSG00000105589 AA Change: D347G
Domain | Start | End | E-Value | Type |
FBOX
|
5 |
45 |
3.13e-6 |
SMART |
SCOP:d1tbga_
|
114 |
249 |
4e-9 |
SMART |
Blast:WD40
|
136 |
175 |
3e-6 |
BLAST |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
T |
C |
11: 9,217,565 (GRCm39) |
S336P |
probably benign |
Het |
Abca9 |
T |
C |
11: 110,039,729 (GRCm39) |
Y428C |
probably damaging |
Het |
Alpk1 |
T |
C |
3: 127,466,011 (GRCm39) |
Q1165R |
probably damaging |
Het |
Angel2 |
C |
A |
1: 190,665,310 (GRCm39) |
N80K |
probably benign |
Het |
Bmp6 |
T |
C |
13: 38,653,610 (GRCm39) |
S226P |
probably damaging |
Het |
Ccar2 |
T |
C |
14: 70,383,311 (GRCm39) |
T229A |
probably benign |
Het |
Cdh12 |
G |
A |
15: 21,237,989 (GRCm39) |
V75M |
probably damaging |
Het |
Cdh6 |
G |
T |
15: 13,034,326 (GRCm39) |
A778E |
possibly damaging |
Het |
Corin |
A |
T |
5: 72,496,334 (GRCm39) |
C540S |
probably damaging |
Het |
Cyfip1 |
C |
A |
7: 55,547,991 (GRCm39) |
Y530* |
probably null |
Het |
Dock10 |
T |
G |
1: 80,570,876 (GRCm39) |
K327N |
probably damaging |
Het |
Dpy19l3 |
A |
G |
7: 35,426,840 (GRCm39) |
|
probably benign |
Het |
E2f8 |
T |
C |
7: 48,516,899 (GRCm39) |
T827A |
probably benign |
Het |
Edem3 |
T |
C |
1: 151,668,136 (GRCm39) |
V305A |
possibly damaging |
Het |
Fam170a |
T |
C |
18: 50,414,845 (GRCm39) |
W164R |
probably benign |
Het |
Gnmt |
T |
C |
17: 47,037,606 (GRCm39) |
D124G |
probably benign |
Het |
Gpx5 |
T |
C |
13: 21,471,669 (GRCm39) |
D178G |
probably damaging |
Het |
Gsdmd |
T |
A |
15: 75,736,186 (GRCm39) |
I105N |
probably damaging |
Het |
Hps5 |
C |
T |
7: 46,410,856 (GRCm39) |
M1113I |
probably damaging |
Het |
Hyal6 |
T |
C |
6: 24,734,178 (GRCm39) |
F37S |
probably damaging |
Het |
Il17c |
C |
T |
8: 123,148,862 (GRCm39) |
T2I |
probably benign |
Het |
Lyz1 |
A |
G |
10: 117,127,093 (GRCm39) |
C48R |
probably damaging |
Het |
Or52e18 |
T |
A |
7: 104,609,946 (GRCm39) |
|
probably benign |
Het |
Pafah1b3 |
G |
A |
7: 24,994,570 (GRCm39) |
R215C |
possibly damaging |
Het |
Psmb4 |
A |
T |
3: 94,793,538 (GRCm39) |
|
probably null |
Het |
Rnf213 |
T |
C |
11: 119,373,944 (GRCm39) |
V5009A |
probably benign |
Het |
Sema6a |
T |
C |
18: 47,414,369 (GRCm39) |
K494E |
possibly damaging |
Het |
Sfmbt1 |
T |
C |
14: 30,491,777 (GRCm39) |
V17A |
probably benign |
Het |
Speg |
T |
A |
1: 75,387,920 (GRCm39) |
|
probably benign |
Het |
Spint1 |
A |
G |
2: 119,076,936 (GRCm39) |
D340G |
probably damaging |
Het |
Tasor |
A |
G |
14: 27,186,258 (GRCm39) |
E819G |
probably benign |
Het |
Tctn3 |
T |
C |
19: 40,596,081 (GRCm39) |
I309V |
probably benign |
Het |
Tex19.1 |
T |
A |
11: 121,038,072 (GRCm39) |
D143E |
probably damaging |
Het |
Tktl2 |
A |
G |
8: 66,965,548 (GRCm39) |
I369V |
probably benign |
Het |
Tm2d2 |
A |
G |
8: 25,510,573 (GRCm39) |
|
probably benign |
Het |
Traf4 |
C |
A |
11: 78,056,226 (GRCm39) |
R14L |
possibly damaging |
Het |
Zfhx4 |
A |
G |
3: 5,466,196 (GRCm39) |
Y2118C |
probably damaging |
Het |
Zmynd15 |
C |
A |
11: 70,354,416 (GRCm39) |
N425K |
probably benign |
Het |
|
Other mutations in Fbxw14 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01319:Fbxw14
|
APN |
9 |
109,107,859 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01654:Fbxw14
|
APN |
9 |
109,115,648 (GRCm39) |
splice site |
probably benign |
|
K3955:Fbxw14
|
UTSW |
9 |
109,105,313 (GRCm39) |
missense |
possibly damaging |
0.87 |
R0064:Fbxw14
|
UTSW |
9 |
109,116,660 (GRCm39) |
nonsense |
probably null |
|
R0133:Fbxw14
|
UTSW |
9 |
109,103,647 (GRCm39) |
missense |
probably benign |
0.02 |
R0975:Fbxw14
|
UTSW |
9 |
109,100,307 (GRCm39) |
missense |
probably benign |
0.00 |
R1124:Fbxw14
|
UTSW |
9 |
109,105,236 (GRCm39) |
missense |
possibly damaging |
0.48 |
R1782:Fbxw14
|
UTSW |
9 |
109,107,759 (GRCm39) |
missense |
possibly damaging |
0.94 |
R2118:Fbxw14
|
UTSW |
9 |
109,103,692 (GRCm39) |
splice site |
probably benign |
|
R3881:Fbxw14
|
UTSW |
9 |
109,100,262 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4641:Fbxw14
|
UTSW |
9 |
109,107,750 (GRCm39) |
critical splice donor site |
probably null |
|
R4915:Fbxw14
|
UTSW |
9 |
109,103,592 (GRCm39) |
missense |
possibly damaging |
0.82 |
R4952:Fbxw14
|
UTSW |
9 |
109,105,269 (GRCm39) |
missense |
probably benign |
0.01 |
R6137:Fbxw14
|
UTSW |
9 |
109,105,290 (GRCm39) |
missense |
probably damaging |
1.00 |
R6187:Fbxw14
|
UTSW |
9 |
109,105,332 (GRCm39) |
missense |
probably damaging |
1.00 |
R6584:Fbxw14
|
UTSW |
9 |
109,115,611 (GRCm39) |
missense |
possibly damaging |
0.85 |
R7130:Fbxw14
|
UTSW |
9 |
109,100,350 (GRCm39) |
missense |
probably benign |
0.02 |
R7845:Fbxw14
|
UTSW |
9 |
109,116,671 (GRCm39) |
missense |
probably damaging |
1.00 |
R8049:Fbxw14
|
UTSW |
9 |
109,105,211 (GRCm39) |
missense |
probably damaging |
0.98 |
R8169:Fbxw14
|
UTSW |
9 |
109,106,284 (GRCm39) |
missense |
probably benign |
0.05 |
R8815:Fbxw14
|
UTSW |
9 |
109,105,305 (GRCm39) |
nonsense |
probably null |
|
R8816:Fbxw14
|
UTSW |
9 |
109,105,305 (GRCm39) |
nonsense |
probably null |
|
R8818:Fbxw14
|
UTSW |
9 |
109,116,071 (GRCm39) |
start gained |
probably benign |
|
R8958:Fbxw14
|
UTSW |
9 |
109,107,810 (GRCm39) |
missense |
probably damaging |
0.99 |
R8960:Fbxw14
|
UTSW |
9 |
109,114,367 (GRCm39) |
missense |
possibly damaging |
0.74 |
R9093:Fbxw14
|
UTSW |
9 |
109,105,250 (GRCm39) |
missense |
probably benign |
|
R9306:Fbxw14
|
UTSW |
9 |
109,100,280 (GRCm39) |
missense |
probably benign |
0.12 |
R9455:Fbxw14
|
UTSW |
9 |
109,103,567 (GRCm39) |
missense |
probably benign |
0.00 |
R9563:Fbxw14
|
UTSW |
9 |
109,106,335 (GRCm39) |
missense |
probably benign |
0.00 |
X0067:Fbxw14
|
UTSW |
9 |
109,105,269 (GRCm39) |
missense |
probably benign |
0.01 |
Z1177:Fbxw14
|
UTSW |
9 |
109,105,314 (GRCm39) |
missense |
probably benign |
0.02 |
|
Posted On |
2013-10-07 |