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Incidental Mutations
51
incidental mutations are currently displayed, and affect
50
genes.
5
are Possibly Damaging.
22
are Probably Damaging.
16
are Probably Benign.
6
are Probably Null.
2
create premature stop codons.
1
are critical splice junction mutations.
Mutations in Coding Regions/Splice Sites Identified by Next-Gen Sequencing
[records 1 to 51 of 51]
10
25
50
100
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1000
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
ABI
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
55053
Abcb1a
0.118
R0595
G1
172
Y
5
8740417
D1093E
T
A
missense
Het
probably damaging
1.000
0.686
phenotype
07/11/2013
2
55055
Aldh2
0.000
R0595
G1
201
Y
5
121573500
A276D
G
T
missense
Het
probably damaging
0.990
0.809
phenotype
07/11/2013
3
55056
Aldh2
0.000
R0595
G1
208
Y
5
121573501
A276T
C
T
missense
Het
probably damaging
0.969
0.509
phenotype
07/11/2013
4
55088
Aldh7a1
0.161
R0595
G1
198
Y
18
56546893
C
T
splice site
Het
probably benign
phenotype
07/11/2013
5
55065
Ano1
1.000
R0595
G1
225
Y
7
144590153
R964H
C
T
missense
Het
possibly damaging
0.938
0.179
phenotype
07/11/2013
6
55080
Apob
0.933
R0595
G1
225
Y
12
8008369
V2251I
G
A
missense
Het
probably benign
0.006
0.090
phenotype
07/11/2013
7
55058
Atp6v1e1
1.000
R0595
G1
208
Y
6
120801130
V148A
A
G
missense
Het
probably benign
0.017
0.442
phenotype
07/11/2013
8
55072
Bbs9
0.669
R0595
G1
192
Y
9
22496815
H73Q
T
A
missense
Het
probably benign
0.000
0.090
phenotype
07/11/2013
9
55078
Brca1
1.000
R0595
G1
225
Y
11
101524887
V807A
A
G
missense
Het
probably benign
0.268
0.090
phenotype
07/11/2013
10
55046
Cacna1b
0.000
R0595
G1
154
Y
2
24649989
C
T
splice site
Het
probably benign
phenotype
07/11/2013
11
189200
Cadps2
0.000
R0595
G1
80
Y
6
23321704
A
T
critical splice donor site
2 bp
Het
probably null
0.975
phenotype
05/13/2014
12
55049
Cep152
1.000
R0595
G1
206
Y
2
125595063
Q519R
T
C
missense
Het
probably damaging
0.985
0.070
phenotype
07/11/2013
13
55071
Cep295
0.946
R0595
G1
137
Y
9
15332191
Y1608*
A
C
nonsense
Het
probably null
0.965
07/11/2013
14
55075
Cfap54
0.067
R0595
G1
225
Y
10
92884736
I2619V
T
C
missense
Het
unknown
0.059
phenotype
07/11/2013
15
55081
Dnajb9
0.245
R0595
G1
222
Y
12
44208284
V7A
A
G
missense
Het
probably benign
0.001
0.090
phenotype
07/11/2013
16
55054
Ep400
1.000
R0595
G1
225
Y
5
110703542
K1358R
T
C
missense
Het
unknown
0.059
phenotype
07/11/2013
17
55052
Fbxw7
1.000
R0595
G1
225
Y
3
84977367
C
A
splice site
Het
probably null
0.727
phenotype
07/11/2013
18
55048
Fsip2
0.101
R0595
G1
225
Y
2
82946952
Y108H
T
C
missense
Het
probably damaging
0.985
0.255
phenotype
07/11/2013
19
55077
Ggt6
0.000
R0595
G1
179
Y
11
72437667
L331Q
T
A
missense
Het
probably damaging
0.979
0.384
phenotype
07/11/2013
20
55064
Ifitm1
0.000
R0595
G1
217
Y
7
140968329
I25N
T
A
missense
Het
possibly damaging
0.879
0.716
phenotype
07/11/2013
21
55085
Krt75
0.072
R0595
G1
208
Y
15
101568354
E367K
C
T
missense
Het
probably damaging
0.996
0.623
phenotype
07/11/2013
22
55084
Lifr
1.000
R0595
G1
225
Y
15
7177469
Y487C
A
G
missense
Het
probably damaging
0.999
0.544
phenotype
07/11/2013
23
189199
Map3k6
0.358
R0595
G1
67
Y
4
133241263
G59W
G
T
missense
Het
probably damaging
0.977
0.082
phenotype
05/13/2014
24
55051
Mme
0.000
R0595
G1
170
Y
3
63328181
T129A
A
G
missense
Het
probably benign
0.267
0.074
phenotype
07/11/2013
25
55070
Mmp10
0.074
R0595
G1
224
Y
9
7508198
E442K
G
A
missense
Het
probably benign
0.000
0.090
phenotype
07/11/2013
26
55076
Myh13
0.123
R0595
G1
225
Y
11
67344846
S646P
T
C
missense
Het
probably benign
0.029
0.105
07/11/2013
27
189198
Nbea
1.000
R0595
G1
34
Y
3
55628496
I2889N
A
T
missense
Het
probably benign
0.178
0.097
phenotype
05/13/2014
28
55059
Nlrp4d
0.000
R0595
G1
225
Y
7
10381045
K581N
T
A
missense
Het
probably benign
0.001
0.090
07/11/2013
29
55068
Nr3c2
1.000
R0595
G1
217
Y
8
76909604
P445S
C
T
missense
Het
possibly damaging
0.930
0.071
phenotype
07/11/2013
30
55062
Olfr487
0.079
R0595
G1
202
Y
7
108211661
N289K
A
T
missense
Het
probably damaging
1.000
0.647
phenotype
07/11/2013
31
55050
Pck1
1.000
R0595
G1
225
Y
2
173157029
V360E
T
A
missense
Het
probably damaging
0.996
0.881
phenotype
07/11/2013
32
55063
Plekha7
0.395
R0595
G1
200
Y
7
116144968
D766G
T
C
missense
Het
probably damaging
1.000
0.291
phenotype
07/11/2013
33
55067
Prag1
0.000
R0595
G1
83
Y
8
36147002
N1236S
A
G
missense
Het
probably damaging
0.998
0.299
phenotype
07/11/2013
34
55086
Prkdc
0.955
R0595
G1
196
Y
16
15808088
Q3326P
A
C
missense
Het
probably damaging
0.997
0.658
phenotype
07/11/2013
35
55047
Prrc2b
1.000
R0595
G1
155
Y
2
32183177
M57T
T
C
missense
Het
probably damaging
0.997
0.631
07/11/2013
36
55083
Rb1
1.000
R0595
G1
181
Y
14
73273680
F330I
A
T
missense
Het
probably damaging
1.000
0.787
phenotype
07/11/2013
37
55045
Rufy4
0.179
R0595
G1
151
Y
1
74140930
E448G
A
G
missense
Het
possibly damaging
0.936
0.070
07/11/2013
38
55073
Scn10a
0.194
R0595
G1
182
Y
9
119666063
M371L
T
A
missense
Het
probably benign
0.009
0.090
phenotype
07/11/2013
39
55074
Sgta
0.000
R0595
G1
219
Y
10
81048908
D189G
T
C
missense
Het
probably damaging
1.000
0.863
phenotype
07/11/2013
40
55082
Spata31d1b
0.073
R0595
G1
191
Y
13
59716277
H413R
A
G
missense
Het
probably benign
0.086
0.160
07/11/2013
41
55044
Stau2
0.000
R0595
G1
225
Y
1
16440450
T95A
T
C
missense
Het
probably damaging
1.000
0.115
phenotype
07/11/2013
42
261942
Supt4a
1.000
R0595
G1
225
N
11
87743156
C
T
splice site
45 bp
Het
probably null
phenotype
02/04/2015
43
55079
Tanc2
1.000
R0595
G1
91
Y
11
105714177
A
G
splice site
Het
probably null
0.976
phenotype
07/11/2013
44
55087
Tap2
0.174
R0595
G1
220
Y
17
34212354
V422D
T
A
missense
Het
probably damaging
0.989
0.647
phenotype
07/11/2013
45
55057
Tas2r138
0.000
R0595
G1
200
Y
6
40612865
L149P
A
G
missense
Het
probably damaging
1.000
0.829
phenotype
07/11/2013
46
55066
Tex15
0.236
R0595
G1
214
Y
8
33572617
S692P
T
C
missense
Het
probably damaging
0.998
0.077
phenotype
07/11/2013
47
189197
Tgm2
0.196
R0595
G1
73
Y
2
158143042
R48H
C
T
missense
Het
probably damaging
1.000
0.126
phenotype
05/13/2014
48
55061
Ticrr
0.948
R0595
G1
225
Y
7
79695563
F1725L
T
A
missense
Het
possibly damaging
0.942
0.199
phenotype
07/11/2013
49
55069
Tnpo2
0.000
R0595
G1
225
Y
8
85052041
C672*
T
A
nonsense
Het
probably null
0.976
07/11/2013
50
55043
Xkr9
0.069
R0595
G1
225
Y
1
13700784
I175V
A
G
missense
Het
probably benign
0.023
0.072
07/11/2013
51
55060
Zfp428
0.145
R0595
G1
166
Y
7
24515378
S140T
T
A
missense
Het
probably benign
0.271
0.090
07/11/2013
[records 1 to 51 of 51]