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Incidental Mutations
86
incidental mutations are currently displayed, and affect
86
genes.
17
are Possibly Damaging.
23
are Probably Damaging.
34
are Probably Benign.
11
are Probably Null.
5
create premature stop codons.
2
are critical splice junction mutations.
Mutations in Coding Regions/Splice Sites Identified by Next-Gen Sequencing
[records 1 to 86 of 86]
10
25
50
100
500
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
17623
A2m
0.000
R0109
G1
Y
6
121659303
H710Q
C
A
missense
Het
probably benign
0.001
0.090
phenotype
01/31/2013
2
64203
Abca14
0.000
R0109
G1
199
N
7
120318762
K1496*
A
T
nonsense
Het
probably null
0.976
08/06/2013
3
64187
Anapc1
1.000
R0109
G1
225
N
2
128634693
R1335L
C
A
missense
Het
probably damaging
1.000
0.471
phenotype
08/06/2013
4
64195
Arhgef10l
0.123
R0109
G1
152
N
4
140578294
S203T
A
T
missense
Het
probably benign
0.017
0.076
phenotype
08/06/2013
5
64183
Astn1
0.110
R0109
G1
140
N
1
158664104
T41I
C
T
missense
Het
possibly damaging
0.785
0.098
phenotype
08/06/2013
6
17377
Atrnl1
0.268
R0109
G1
Y
19
57755517
Y1184N
T
A
missense
Het
possibly damaging
0.778
0.193
phenotype
01/31/2013
7
64213
Avil
0.131
R0109
G1
116
N
10
127013644
N603S
A
G
missense
Het
probably benign
0.000
0.062
phenotype
08/06/2013
8
64216
Brca1
1.000
R0109
G1
211
N
11
101531090
D149G
T
C
missense
Het
possibly damaging
0.845
0.179
phenotype
08/06/2013
9
17710
Car14
0.000
R0109
G1
Y
3
95899451
A234S
C
A
missense
Het
probably benign
0.005
0.090
phenotype
01/31/2013
10
17473
Cep164
1.000
R0109
G1
Y
9
45771587
L935R
A
C
missense
Het
probably damaging
1.000
0.218
phenotype
01/31/2013
11
64179
Col19a1
1.000
R0109
G1
113
N
1
24559768
A
C
splice site
Het
probably null
phenotype
08/06/2013
12
64181
Cps1
1.000
R0109
G1
197
N
1
67229418
V1435A
T
C
missense
Het
possibly damaging
0.825
0.155
phenotype
08/06/2013
13
17689
Csmd2
0.141
R0109
G1
Y
4
128544743
S3038R
T
G
missense
Het
probably benign
0.033
0.090
01/31/2013
14
64193
Cyp2j6
0.070
R0109
G1
100
N
4
96518157
I459N
A
T
missense
Het
probably damaging
0.985
0.604
phenotype
08/06/2013
15
64217
Cyth1
0.110
R0109
G1
160
N
11
118182306
E242G
T
C
missense
Het
probably damaging
0.979
0.856
phenotype
08/06/2013
16
64210
Dclk3
0.287
R0109
G1
205
N
9
111467670
L94R
T
G
missense
Het
possibly damaging
0.931
0.086
phenotype
08/06/2013
17
17759
Disp2
0.853
R0109
G1
Y
2
118791816
S1010P
T
C
missense
Het
probably damaging
1.000
0.539
phenotype
01/31/2013
18
17464
Dlec1
0.000
R0109
G1
Y
9
119105824
R145H
G
A
missense
Het
probably damaging
1.000
0.647
phenotype
01/31/2013
19
64227
Dsg3
0.492
R0109
G1
165
N
18
20540134
V954A
T
C
missense
Het
probably damaging
0.964
0.331
phenotype
08/06/2013
20
64207
Dync2h1
1.000
R0109
G1
134
N
9
7111487
D309V
T
A
missense
Het
probably damaging
1.000
0.370
phenotype
08/06/2013
21
64196
Efhd2
0.129
R0109
G1
183
N
4
141874567
F101L
A
G
missense
Het
probably benign
0.005
phenotype
08/06/2013
22
17392
Fam13b
0.267
R0109
G1
Y
18
34451308
I601T
A
G
missense
Het
probably benign
0.003
0.060
01/31/2013
23
64199
Fgd5
0.140
R0109
G1
141
N
6
91988235
M325K
T
A
missense
Het
possibly damaging
0.740
0.247
phenotype
08/06/2013
24
64197
Fras1
0.000
R0109
G1
95
N
5
96710077
S2077P
T
C
missense
Het
probably benign
0.010
phenotype
08/06/2013
25
64192
Frmpd1
0.000
R0109
G1
175
N
4
45279340
E688D
A
T
missense
Het
probably benign
0.025
0.099
08/06/2013
26
17673
Gabrb1
0.000
R0109
G1
Y
5
72121946
C
T
splice site
Het
probably benign
phenotype
01/31/2013
27
17747
Gm10130
0.131
R0109
G1
Y
2
150323841
A
T
splice site
Het
probably benign
01/31/2013
28
17620
Gm6590
R0109
G1
Y
6
130484906
A
T
exon
Het
noncoding transcript
01/31/2013
29
17475
Gse1
0.192
R0109
G1
Y
8
120567785
S284T
T
A
missense
Het
probably damaging
1.000
0.131
01/31/2013
30
64194
Hspg2
1.000
R0109
G1
128
N
4
137562201
V3824A
T
C
missense
Het
probably benign
0.154
phenotype
08/06/2013
31
17691
Ipo13
0.953
R0109
G1
Y
4
117905016
R387Q
C
T
missense
Het
possibly damaging
0.917
0.158
phenotype
01/31/2013
32
64228
Kctd16
0.125
R0109
G1
155
N
18
40259151
E264G
A
G
missense
Het
probably benign
0.058
0.090
phenotype
08/06/2013
33
17407
Krt73
0.132
R0109
G1
Y
15
101796395
L352*
A
T
nonsense
Het
probably null
0.976
phenotype
01/31/2013
34
64221
Mapk15
0.000
R0109
G1
124
N
15
75996077
K153*
A
T
nonsense
Het
probably null
0.975
08/06/2013
35
17493
Mcemp1
0.078
R0109
G1
Y
8
3667055
Y65*
C
A
nonsense
Het
probably null
0.965
phenotype
01/31/2013
36
17706
Mcoln2
0.099
R0109
G1
Y
3
146175718
R210G
C
G
missense
Het
probably damaging
0.999
0.125
phenotype
01/31/2013
37
64223
Miox
0.133
R0109
G1
112
N
15
89335581
V91I
G
A
missense
Het
probably benign
0.172
0.139
08/06/2013
38
17826
Myh7b
0.000
R0109
G1
Y
2
155611674
E6G
A
G
missense
Het
possibly damaging
0.923
0.060
phenotype
03/25/2013
39
17677
Ncapg
0.951
R0109
G1
Y
5
45693748
A
G
splice site
Het
probably null
0.976
phenotype
01/31/2013
40
64212
Nfyb
0.947
R0109
G1
112
N
10
82755002
A65V
G
A
missense
Het
possibly damaging
0.954
0.104
phenotype
08/06/2013
41
64186
Olfr1241
0.085
R0109
G1
153
N
2
89482803
F111L
A
G
missense
Het
probably benign
0.101
0.090
phenotype
08/06/2013
42
64229
Olfr1442
0.056
R0109
G1
129
N
19
12674860
F218L
C
A
missense
Het
probably benign
0.023
0.090
phenotype
08/06/2013
43
64201
Olfr646
0.169
R0109
G1
155
N
7
104106605
S109P
T
C
missense
Het
probably damaging
1.000
0.613
phenotype
08/06/2013
44
17453
Osbp2
0.100
R0109
G1
Y
11
3711791
S754A
A
C
missense
Het
probably benign
0.002
0.070
phenotype
01/31/2013
45
17820
Pard3
1.000
R0109
G1
Y
8
127398666
R712C
C
T
missense
Het
probably damaging
1.000
0.647
phenotype
03/25/2013
46
64224
Parp9
0.185
R0109
G1
185
N
16
35948341
I64T
T
C
missense
Het
probably damaging
0.974
0.865
08/06/2013
47
17488
Pcm1
0.000
R0109
G1
Y
8
41257937
H81Q
T
A
missense
Het
possibly damaging
0.878
0.095
phenotype
01/31/2013
48
17457
Pcnt
1.000
R0109
G1
Y
10
76389196
P1825S
G
A
missense
Het
probably benign
0.001
0.090
phenotype
01/31/2013
49
64209
Pfkfb4
0.000
R0109
G1
141
N
9
108998889
V43A
T
C
missense
Het
probably benign
0.269
0.237
phenotype
08/06/2013
50
64180
Pgap1
0.832
R0109
G1
165
N
1
54494825
V643E
A
T
missense
Het
probably damaging
1.000
0.334
phenotype
08/06/2013
51
17711
Pip5k1a
0.000
R0109
G1
Y
3
95065442
T433A
T
C
missense
Het
probably benign
0.026
0.065
phenotype
01/31/2013
52
64230
Pip5k1b
0.108
R0109
G1
152
N
19
24379047
M176L
T
A
missense
Het
probably benign
0.000
0.096
phenotype
08/06/2013
53
17817
Polg2
1.000
R0109
G1
Y
11
106777132
T
C
splice site
Het
probably benign
phenotype
03/25/2013
54
17825
Pomp
0.795
R0109
G1
Y
5
147875513
H136Q
T
A
missense
Het
probably benign
0.037
0.090
phenotype
03/25/2013
55
64182
Ppfia4
0.089
R0109
G1
167
N
1
134324217
A
T
splice site
Het
probably null
0.976
08/06/2013
56
64206
Prdx2
0.927
R0109
G1
125
N
8
84970251
G4S
G
A
missense
Het
probably benign
0.075
0.060
phenotype
08/06/2013
57
17647
Rbm28
0.949
R0109
G1
Y
6
29160105
G70D
C
T
missense
Het
probably benign
0.158
0.416
phenotype
01/31/2013
58
17805
Rdh10
0.896
R0109
G1
Y
1
16106265
I83N
T
A
missense
Het
probably damaging
0.973
0.240
phenotype
01/31/2013
59
64218
Rin3
0.000
R0109
G1
142
N
12
102313081
I50V
A
G
missense
Het
possibly damaging
0.739
0.066
phenotype
08/06/2013
60
262062
Rtl1
1.000
R0109
G1
225
N
12
109595407
G
A
start gained
Het
probably benign
phenotype
02/04/2015
61
64222
Sgsm3
0.224
R0109
G1
153
N
15
81009466
D434H
G
C
missense
Het
probably damaging
0.992
08/06/2013
62
64204
Shank2
0.000
R0109
G1
83
N
7
144410577
S634P
T
C
missense
Het
possibly damaging
0.809
phenotype
08/06/2013
63
64208
Sik2
0.789
R0109
G1
127
N
9
50899475
M447T
A
G
missense
Het
possibly damaging
0.495
0.074
phenotype
08/06/2013
64
64188
Sla2
0.000
R0109
G1
175
N
2
156883587
A
G
critical splice donor site
2 bp
Het
probably null
0.935
phenotype
08/06/2013
65
17813
Slc51a
0.338
R0109
G1
Y
16
32477607
I192L
T
A
missense
Het
probably benign
0.021
0.128
phenotype
03/25/2013
66
17378
Sorcs1
0.123
R0109
G1
Y
19
50378891
T
C
splice site
Het
probably benign
phenotype
01/31/2013
67
64190
Spata16
0.130
R0109
G1
96
N
3
26913267
F389I
T
A
missense
Het
probably damaging
0.966
0.135
phenotype
08/06/2013
68
64215
Srebf1
1.000
R0109
G1
201
N
11
60201804
A793V
G
A
missense
Het
probably benign
0.208
0.090
phenotype
08/06/2013
69
17450
Tbc1d9b
0.509
R0109
G1
Y
11
50158434
V736A
T
C
missense
Het
probably benign
0.017
0.097
01/31/2013
70
17709
Tbx15
0.912
R0109
G1
Y
3
99351866
T351N
C
A
missense
Het
possibly damaging
0.924
0.096
phenotype
01/31/2013
71
17815
Tep1
0.000
R0109
G1
Y
14
50851916
A
G
splice site
6 bp
Het
probably null
0.976
phenotype
03/25/2013
72
64198
Tmed11
0.834
R0109
G1
123
N
5
108777412
D178V
T
A
missense
Het
probably damaging
0.997
0.647
08/06/2013
73
64226
Traf7
0.698
R0109
G1
161
N
17
24513926
F110L
A
G
missense
Het
probably benign
0.117
0.160
phenotype
08/06/2013
74
64185
Ttn
1.000
R0109
G1
218
N
2
76725564
I30366F
T
A
missense
Het
probably damaging
0.999
phenotype
08/06/2013
75
64202
Ubqlnl
0.089
R0109
G1
119
N
7
104150192
V33M
C
T
missense
Het
probably damaging
1.000
0.698
phenotype
08/06/2013
76
17816
Vcan
1.000
R0109
G1
Y
13
89678073
A
T
critical splice donor site
2 bp
Het
probably null
0.951
phenotype
03/25/2013
77
64219
Vmn1r194
0.057
R0109
G1
225
N
13
22245047
Y278C
A
G
missense
Het
probably damaging
1.000
0.647
08/06/2013
78
17824
Vmn1r46
0.050
R0109
G1
Y
6
89977062
F298L
T
C
missense
Het
probably benign
0.026
0.090
03/25/2013
79
64225
Vmn2r100
0.060
R0109
G1
221
N
17
19522120
P252Q
C
A
missense
Het
possibly damaging
0.795
0.179
08/06/2013
80
67057
Vmn2r114
0.087
R0109
G1
147
N
17
23310575
Y184*
A
T
nonsense
Het
probably null
08/20/2013
81
64200
Vmn2r53
0.104
R0109
G1
207
N
7
12582066
A609T
C
T
missense
Het
probably damaging
1.000
08/06/2013
82
64220
Vps13b
0.000
R0109
G1
177
N
15
35572119
T961A
A
G
missense
Het
probably benign
0.204
0.091
phenotype
08/06/2013
83
64184
Xirp2
0.343
R0109
G1
105
N
2
67519278
N3272K
T
A
missense
Het
probably damaging
1.000
phenotype
08/06/2013
84
64189
Zfp217
0.922
R0109
G1
127
N
2
170115462
A539T
C
T
missense
Het
probably benign
0.313
0.143
08/06/2013
85
64214
Zfp454
0.063
R0109
G1
102
N
11
50883775
T24S
T
A
missense
Het
possibly damaging
0.707
08/06/2013
86
17431
Zfp839
0.060
R0109
G1
Y
12
110860874
E400K
G
A
missense
Het
possibly damaging
0.923
0.076
01/31/2013
[records 1 to 86 of 86]