Incidental Mutation 'IGL01319:Fbxw14'
ID |
73992 |
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 # |
IGL01319
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
109099858-109116744 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 109107859 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 172
(K172E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143404
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112041]
[ENSMUST00000198048]
[ENSMUST00000198844]
|
AlphaFold |
Q8C2Y5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000066901
AA Change: K172E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000066613 Gene: ENSMUSG00000054087 AA Change: K172E
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 damaging
Transcript: ENSMUST00000112041
AA Change: K172E
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000107672 Gene: ENSMUSG00000105589 AA Change: K172E
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 |
probably benign
Transcript: ENSMUST00000198048
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000198844
AA Change: K172E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000143404 Gene: ENSMUSG00000105589 AA Change: K172E
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd18 |
T |
A |
3: 40,888,077 (GRCm39) |
V307E |
probably benign |
Het |
Bub1b |
T |
C |
2: 118,445,475 (GRCm39) |
I265T |
possibly damaging |
Het |
Cemip2 |
C |
T |
19: 21,822,121 (GRCm39) |
P1172L |
possibly damaging |
Het |
Cntnap3 |
G |
A |
13: 64,935,651 (GRCm39) |
T404I |
probably damaging |
Het |
Disc1 |
T |
C |
8: 125,814,630 (GRCm39) |
S165P |
probably damaging |
Het |
Dock1 |
T |
C |
7: 134,391,007 (GRCm39) |
F756L |
probably benign |
Het |
Dock2 |
A |
G |
11: 34,589,617 (GRCm39) |
V480A |
possibly damaging |
Het |
Drc3 |
A |
G |
11: 60,255,788 (GRCm39) |
D125G |
probably null |
Het |
Emid1 |
C |
T |
11: 5,093,859 (GRCm39) |
C96Y |
probably damaging |
Het |
F13b |
A |
G |
1: 139,434,531 (GRCm39) |
N99S |
probably damaging |
Het |
Fam20a |
A |
G |
11: 109,569,284 (GRCm39) |
|
probably benign |
Het |
Fancd2 |
C |
A |
6: 113,561,860 (GRCm39) |
T1243K |
probably damaging |
Het |
Gm13941 |
T |
C |
2: 110,925,150 (GRCm39) |
|
probably null |
Het |
Gtpbp4 |
A |
T |
13: 9,035,296 (GRCm39) |
N354K |
probably benign |
Het |
Igkv2-116 |
T |
C |
6: 68,129,388 (GRCm39) |
L50P |
probably benign |
Het |
Klrb1-ps1 |
C |
T |
6: 129,093,548 (GRCm39) |
P23L |
possibly damaging |
Het |
Kng2 |
T |
A |
16: 22,847,584 (GRCm39) |
I26F |
probably damaging |
Het |
Krt81 |
G |
A |
15: 101,361,269 (GRCm39) |
H104Y |
probably benign |
Het |
Lrpprc |
T |
C |
17: 85,012,840 (GRCm39) |
|
probably benign |
Het |
Man2a2 |
C |
T |
7: 80,010,880 (GRCm39) |
V704M |
possibly damaging |
Het |
Mbip |
A |
G |
12: 56,377,027 (GRCm39) |
V303A |
probably benign |
Het |
Mipep |
A |
T |
14: 61,080,720 (GRCm39) |
M571L |
probably benign |
Het |
Ncan |
A |
T |
8: 70,550,212 (GRCm39) |
V1188D |
probably damaging |
Het |
Pcdhb4 |
T |
C |
18: 37,441,566 (GRCm39) |
V292A |
probably benign |
Het |
Pkd1 |
T |
C |
17: 24,806,893 (GRCm39) |
|
probably benign |
Het |
Ppp2r2c |
T |
A |
5: 37,104,465 (GRCm39) |
S282T |
possibly damaging |
Het |
Rad54l2 |
C |
T |
9: 106,596,245 (GRCm39) |
G231D |
probably benign |
Het |
Rnf20 |
T |
G |
4: 49,649,326 (GRCm39) |
D443E |
probably damaging |
Het |
Rptor |
A |
G |
11: 119,781,996 (GRCm39) |
M1108V |
probably benign |
Het |
Serpine2 |
A |
G |
1: 79,788,411 (GRCm39) |
V182A |
probably damaging |
Het |
Sesn2 |
C |
T |
4: 132,227,278 (GRCm39) |
|
probably benign |
Het |
Shank1 |
C |
A |
7: 44,002,547 (GRCm39) |
A1422E |
possibly damaging |
Het |
Skic3 |
A |
G |
13: 76,277,498 (GRCm39) |
H491R |
probably benign |
Het |
Slc13a4 |
C |
T |
6: 35,284,288 (GRCm39) |
|
probably null |
Het |
Snrnp200 |
T |
C |
2: 127,072,047 (GRCm39) |
|
probably benign |
Het |
Src |
G |
A |
2: 157,311,423 (GRCm39) |
G461R |
probably damaging |
Het |
Tbxas1 |
A |
G |
6: 38,994,907 (GRCm39) |
I178V |
probably benign |
Het |
Triml1 |
A |
G |
8: 43,594,434 (GRCm39) |
|
probably benign |
Het |
Tsen2 |
A |
T |
6: 115,553,945 (GRCm39) |
Q441L |
probably damaging |
Het |
Ttc23l |
A |
G |
15: 10,509,492 (GRCm39) |
|
probably benign |
Het |
Ttn |
T |
C |
2: 76,711,648 (GRCm39) |
|
probably benign |
Het |
Vsig10l |
C |
T |
7: 43,114,678 (GRCm39) |
S293L |
probably damaging |
Het |
Zcchc13 |
C |
A |
X: 102,674,606 (GRCm39) |
Q110K |
possibly damaging |
Het |
|
Other mutations in Fbxw14 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01351:Fbxw14
|
APN |
9 |
109,103,640 (GRCm39) |
missense |
possibly damaging |
0.47 |
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 |