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Incidental Mutations
41
incidental mutations are currently displayed, and affect
41
genes.
8
are Possibly Damaging.
9
are Probably Damaging.
16
are Probably Benign.
7
are Probably Null.
2
create premature stop codons.
2
are critical splice junction mutations.
Mutations in Coding Regions/Splice Sites Identified by Next-Gen Sequencing
[records 1 to 41 of 41]
10
25
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per page
Full List
ID
Source
UTSW
APN
Gene
E-score
Stock #
Gen
G0
G0'
G1
G2
G3
G3R
F1
F2
F3
C0
C1
C2
C3
D1
HES
IPS
A3
Quality
-
Vld
Y
N
?
Strain
Chr
1
2
3
4
5
6
7
8
9
10
11
12
13
14
15
16
17
18
19
X
Y
Position
Mutation
A
R
N
D
C
E
Q
G
H
I
L
K
M
F
P
S
T
W
Y
V
*
A
R
N
D
C
E
Q
G
H
I
L
K
M
F
P
S
T
W
Y
V
*
Ref
A
C
G
T
-
Var
A
C
G
T
-
Type
makesense
missense
nonsense
start codon destroyed
start gained
synonymous
splice acceptor site
splice donor site
critical splice acceptor site
critical splice donor site
splice site
large deletion
large insertion
rearrangement
small deletion
small insertion
exon
frame shift
intragenic
intron
utr 3 prime
utr 5 prime
unclassified
Exon Dist
Zygosity
Homo
Het
Hemi
Null
Predicted Effect
unknown
probably benign
probably null
possibly damaging
probably damaging
noncoding transcript
silent
not run
no transcript
PPH Score
-
Meta Score
MGI Phenotype
available
none listed
Posted
1
441329
0610009B22Rik
0.000
R5649
G1
225
N
11
51685972
E33G
T
C
missense
Het
probably benign
0.000
11/08/2016
2
441298
Abca12
1.000
R5649
G1
225
N
1
71291342
T1385A
T
C
missense
Het
probably damaging
1.000
phenotype
11/08/2016
3
441328
Apc2
0.194
R5649
G1
225
N
10
80314138
D1646E
T
A
missense
Het
probably damaging
1.000
phenotype
11/08/2016
4
441299
Aspm
0.000
R5649
G1
225
N
1
139479669
R2098H
G
A
missense
Het
probably benign
0.000
0.090
phenotype
11/08/2016
5
441342
Atl3
0.000
R5649
G1
225
N
19
7532227
T435N
C
A
missense
Het
possibly damaging
0.503
phenotype
11/08/2016
6
441306
Cdh22
0.171
R5649
G1
225
N
2
165116280
T589K
G
T
missense
Het
probably damaging
0.998
phenotype
11/08/2016
7
441317
Cnot3
1.000
R5649
G1
225
N
7
3658083
L561S
T
C
missense
Het
probably benign
0.076
phenotype
11/08/2016
8
441302
Col5a1
1.000
R5649
G1
225
N
2
27951456
D363G
A
G
missense
Het
unknown
phenotype
11/08/2016
9
441307
Cyp24a1
0.574
R5649
G1
225
N
2
170496309
D105G
T
C
missense
Het
possibly damaging
0.873
phenotype
11/08/2016
10
441326
Dennd4a
0.410
R5649
G1
225
N
9
64851209
C
A
splice site
Het
probably null
phenotype
11/08/2016
11
501311
Dnah8
0.486
R5649
G1
118
N
17
30800587
K3878R
A
G
missense
Het
probably benign
0.126
phenotype
12/01/2017
12
441331
Dock4
0.222
R5649
G1
225
N
12
40844540
S1900P
T
C
missense
Het
probably benign
0.029
phenotype
11/08/2016
13
441310
Fancg
0.255
R5649
G1
225
N
4
43008736
L167P
A
G
missense
Het
probably damaging
1.000
phenotype
11/08/2016
14
441333
Ighd2-8
R5649
G1
225
N
12
113450867
S1P
A
G
missense
Het
possibly damaging
0.785
11/08/2016
15
441301
Kif28
0.567
R5649
G1
225
N
1
179697771
A
G
splice site
6 bp
Het
probably null
11/08/2016
16
441330
Mrpl55
R5649
G1
225
N
11
59204571
C20*
T
A
nonsense
Het
probably null
phenotype
11/08/2016
17
441327
Myo5a
0.942
R5649
G1
225
N
9
75171719
K920E
A
G
missense
Het
possibly damaging
0.924
phenotype
11/08/2016
18
501310
Naa35
0.967
R5649
G1
225
N
13
59622866
G
A
unclassified
Het
probably benign
12/01/2017
19
441309
Olfm3
0.110
R5649
G1
225
N
3
115096924
R76G
A
G
missense
Het
probably damaging
0.993
11/08/2016
20
441321
Olfr304
0.074
R5649
G1
225
N
7
86386313
M116V
T
C
missense
Het
probably damaging
0.996
phenotype
11/08/2016
21
441323
Olfr705
0.198
R5649
G1
225
N
7
106714166
R172G
T
C
missense
Het
possibly damaging
0.895
phenotype
11/08/2016
22
441341
Pcdha12
0.242
R5649
G1
225
N
18
37022415
D729V
A
T
missense
Het
probably benign
0.007
phenotype
11/08/2016
23
441335
Phf11c
0.000
R5649
G1
225
N
14
59385532
T
C
critical splice acceptor site
Het
probably null
11/08/2016
24
441305
Phf20
0.899
R5649
G1
225
N
2
156251768
T
A
splice site
Het
probably null
phenotype
11/08/2016
25
441316
Plbd1
0.000
R5649
G1
225
N
6
136616989
Y376F
T
A
missense
Het
probably benign
0.014
phenotype
11/08/2016
26
441339
Poglut1
1.000
R5649
G1
225
N
16
38531811
V257A
A
G
missense
Het
probably damaging
0.989
phenotype
11/08/2016
27
441312
Reln
0.954
R5649
G1
225
N
5
21901625
I3249T
A
G
missense
Het
probably benign
0.326
phenotype
11/08/2016
28
441300
Rgsl1
0.000
R5649
G1
225
N
1
153825893
P272S
G
A
missense
Het
possibly damaging
0.930
11/08/2016
29
441338
Slc15a2
0.109
R5649
G1
225
N
16
36772110
Y197*
A
T
nonsense
Het
probably null
phenotype
11/08/2016
30
441336
Slc45a2
0.085
R5649
G1
225
N
15
11012607
T232I
C
T
missense
Het
probably benign
0.000
phenotype
11/08/2016
31
441318
Ssc5d
0.000
R5649
G1
225
N
7
4926518
T
A
critical splice donor site
2 bp
Het
probably null
11/08/2016
32
441340
Thbs2
0.171
R5649
G1
225
N
17
14689953
Y128C
T
C
missense
Het
probably damaging
0.999
phenotype
11/08/2016
33
441308
Them4
0.000
R5649
G1
225
N
3
94331544
L219F
A
T
missense
Het
possibly damaging
0.621
phenotype
11/08/2016
34
441332
Tmem30b
0.000
R5649
G1
225
N
12
73546166
N58K
G
T
missense
Het
probably benign
0.096
11/08/2016
35
441325
Ttc29
0.064
R5649
G1
225
N
8
78246313
E131K
G
A
missense
Het
possibly damaging
0.471
11/08/2016
36
441314
Vmn1r29
0.089
R5649
G1
225
N
6
58307691
S132C
C
G
missense
Het
probably benign
0.133
11/08/2016
37
441315
Vmn1r53
0.099
R5649
G1
225
N
6
90223760
A194V
G
A
missense
Het
probably benign
0.001
11/08/2016
38
441313
Wdr86
0.085
R5649
G1
225
N
5
24718087
H202Q
A
T
missense
Het
probably benign
0.000
11/08/2016
39
441304
Xirp2
0.272
R5649
G1
225
N
2
67516895
D3160G
A
G
missense
Het
probably benign
0.005
phenotype
11/08/2016
40
441324
Xkr5
0.000
R5649
G1
225
N
8
18933966
D520G
T
C
missense
Het
probably benign
0.001
11/08/2016
41
441319
Zfp607b
0.076
R5649
G1
225
N
7
27703981
C621G
T
G
missense
Het
probably damaging
0.997
11/08/2016
[records 1 to 41 of 41]