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Incidental Mutations
83
incidental mutations are currently displayed, and affect
83
genes.
14
are Possibly Damaging.
26
are Probably Damaging.
32
are Probably Benign.
11
are Probably Null.
4
create premature stop codons.
5
are critical splice junction mutations.
Mutations in Coding Regions/Splice Sites Identified by Next-Gen Sequencing
[records 1 to 83 of 83]
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
66158
1110002E22Rik
0.582
R0239
G1
153
N
3
138065834
TTCCTCCTCCTCCTCCTCCTCC
TTCCTCCTCCTCCTCCTCC
small deletion
Het
probably benign
08/19/2013
2
500160
Adra1d
0.069
R0239
G1
160
N
2
131546214
V474F
C
A
missense
Het
probably benign
0.007
0.070
phenotype
12/01/2017
3
59225
Alg8
1.000
R0239
G1
225
Y
7
97383684
A
T
critical splice acceptor site
Het
probably null
0.950
phenotype
07/11/2013
4
59205
Ash1l
1.000
R0239
G1
102
Y
3
89067222
D2618G
A
G
missense
Het
possibly damaging
0.488
0.274
phenotype
07/11/2013
5
59247
Atp6v1c2
0.342
R0239
G1
214
Y
12
17294675
C
A
critical splice donor site
1 bp
Het
probably null
0.949
phenotype
07/11/2013
6
59254
Cacna1d
0.871
R0239
G1
225
Y
14
30123496
V572A
A
G
missense
Het
probably benign
0.295
0.378
phenotype
07/11/2013
7
59210
Camta1
0.610
R0239
G1
212
Y
4
151143730
W882R
A
G
missense
Het
probably damaging
1.000
0.949
phenotype
07/11/2013
8
59207
Cd72
0.294
R0239
G1
225
Y
4
43453163
V91A
A
G
missense
Het
probably benign
0.056
0.090
phenotype
07/11/2013
9
59258
Cdh12
0.151
R0239
G1
225
Y
15
21586407
W771R
T
C
missense
Het
probably damaging
1.000
0.935
phenotype
07/11/2013
10
59215
Cdx2
1.000
R0239
G1
225
Y
5
147303287
T193K
G
T
missense
Het
probably damaging
1.000
0.950
phenotype
07/11/2013
11
59253
Cfap70
0.064
R0239
G1
197
Y
14
20448605
S5A
A
C
missense
Het
probably benign
0.006
0.090
07/11/2013
12
59257
Chmp7
1.000
R0239
G1
225
Y
14
69720997
V241A
A
G
missense
Het
probably damaging
0.982
0.580
07/11/2013
13
59231
Col4a1
1.000
R0239
G1
225
Y
8
11218780
C
T
splice site
Het
probably benign
phenotype
07/11/2013
14
59203
D3Ertd751e
0.071
R0239
G1
225
Y
3
41753878
Y150C
A
G
missense
Het
probably damaging
1.000
0.401
07/11/2013
15
59211
Depdc5
1.000
R0239
G1
223
Y
5
32943240
S832P
T
C
missense
Het
probably damaging
1.000
0.434
phenotype
07/11/2013
16
59227
Dnhd1
0.099
R0239
G1
225
Y
7
105721531
S4673G
A
G
missense
Het
probably benign
0.057
0.092
07/11/2013
17
59248
Dock4
0.274
R0239
G1
225
Y
12
40737540
S818I
G
T
missense
Het
probably damaging
0.978
0.487
phenotype
07/11/2013
18
59217
Dysf
0.000
R0239
G1
145
Y
6
84064479
Q156*
C
T
nonsense
Het
probably null
0.975
phenotype
07/11/2013
19
59189
Espnl
0.000
R0239
G1
225
Y
1
91322287
V52A
T
C
missense
Het
probably damaging
0.969
0.555
07/11/2013
20
59243
Flcn
1.000
R0239
G1
225
Y
11
59801076
N249S
T
C
missense
Het
probably benign
0.001
0.073
phenotype
07/11/2013
21
59263
Gemin6
0.842
R0239
G1
225
Y
17
80225710
A24D
C
A
missense
Het
probably damaging
1.000
0.725
07/11/2013
22
59206
Gm5773
0.815
R0239
G1
122
Y
3
93774032
H337R
A
G
missense
Het
probably benign
0.012
0.090
07/11/2013
23
59202
Gm9733
0.051
R0239
G1
225
Y
3
15296601
L163P
A
G
missense
Het
probably damaging
0.998
0.360
07/11/2013
24
59264
Greb1l
1.000
R0239
G1
225
Y
18
10458567
C
T
splice site
Het
probably benign
07/11/2013
25
59239
Hal
0.105
R0239
G1
225
Y
10
93503482
S478P
T
C
missense
Het
possibly damaging
0.613
0.092
phenotype
07/11/2013
26
59249
Hectd1
1.000
R0239
G1
225
Y
12
51769318
M1324L
T
A
missense
Het
possibly damaging
0.720
0.165
phenotype
07/11/2013
27
59216
Hyal5
0.064
R0239
G1
225
Y
6
24876344
L72Q
T
A
missense
Het
probably damaging
1.000
0.647
phenotype
07/11/2013
28
59262
Ift140
1.000
R0239
G1
225
Y
17
25045523
C557*
C
A
nonsense
Het
probably null
0.976
phenotype
07/11/2013
29
59208
Ikbkap
1.000
R0239
G1
225
Y
4
56784596
V466L
C
A
missense
Het
probably benign
0.003
0.111
phenotype
07/11/2013
30
59229
Il4ra
0.067
R0239
G1
225
Y
7
125575199
T
C
splice site
Het
probably benign
0.090
phenotype
07/11/2013
31
59191
Ipo9
1.000
R0239
G1
225
Y
1
135404336
A
G
splice site
Het
probably benign
phenotype
07/11/2013
32
59234
Kbtbd3
0.105
R0239
G1
225
Y
9
4330144
V173L
G
T
missense
Het
possibly damaging
0.623
0.060
07/11/2013
33
59192
Kif14
0.923
R0239
G1
225
Y
1
136527393
E1551G
A
G
missense
Het
probably damaging
0.988
0.316
phenotype
07/11/2013
34
59252
Klc1
0.416
R0239
G1
205
N
12
111785324
A
G
splice site
Het
probably benign
phenotype
07/11/2013
35
59246
Krt17
0.000
R0239
G1
225
Y
11
100260878
R30*
G
A
nonsense
Het
probably null
0.976
phenotype
07/11/2013
36
59193
Lamb3
0.178
R0239
G1
175
Y
1
193321053
D100V
A
T
missense
Het
probably damaging
1.000
0.335
phenotype
07/11/2013
37
59221
Lrmp
0.000
R0239
G1
201
Y
6
145171978
G
A
unclassified
Het
probably benign
phenotype
07/11/2013
38
59188
Map2
0.703
R0239
G1
225
Y
1
66416106
D1385G
A
G
missense
Het
probably damaging
1.000
0.246
phenotype
07/11/2013
39
59240
Mettl25
0.143
R0239
G1
225
Y
10
105826525
V195I
C
T
missense
Het
probably damaging
0.995
0.228
07/11/2013
40
59213
Mfsd7a
0.070
R0239
G1
225
Y
5
108444016
G
T
splice site
Het
probably benign
0.090
07/11/2013
41
59256
Micu2
0.000
R0239
G1
190
Y
14
57917378
G
A
splice site
Het
probably benign
phenotype
07/11/2013
42
59195
Mrrf
0.451
R0239
G1
225
Y
2
36177281
T
C
splice site
Het
probably benign
phenotype
07/11/2013
43
59244
Myh8
0.833
R0239
G1
225
Y
11
67301692
T1466A
A
G
missense
Het
probably benign
0.001
0.082
phenotype
07/11/2013
44
59197
Myo3b
0.000
R0239
G1
225
Y
2
70105425
C61S
T
A
missense
Het
probably benign
0.005
0.082
phenotype
07/11/2013
45
59194
Nacc2
0.000
R0239
G1
225
Y
2
26062261
N361T
T
G
missense
Het
probably damaging
1.000
0.241
07/11/2013
46
59245
Nf1
1.000
R0239
G1
225
Y
11
79418574
K438M
A
T
missense
Het
possibly damaging
0.886
0.122
phenotype
07/11/2013
47
59242
Nipal4
0.104
R0239
G1
225
Y
11
46150441
V309A
A
G
missense
Het
possibly damaging
0.798
0.202
phenotype
07/11/2013
48
59224
Nomo1
0.723
R0239
G1
182
Y
7
46079594
T
C
critical splice donor site
2 bp
Het
probably null
0.959
07/11/2013
49
59261
Nubp2
1.000
R0239
G1
225
Y
17
24884471
E144G
T
C
missense
Het
probably damaging
1.000
0.945
phenotype
07/11/2013
50
59212
Nwd2
0.137
R0239
G1
203
Y
5
63800124
I266F
A
T
missense
Het
probably benign
0.008
0.120
07/11/2013
51
59198
Olfr1126
0.085
R0239
G1
225
Y
2
87458037
F291L
T
C
missense
Het
probably benign
0.001
0.090
phenotype
07/11/2013
52
59226
Olfr593
0.059
R0239
G1
225
Y
7
103212726
V289M
G
A
missense
Het
possibly damaging
0.928
0.179
phenotype
07/11/2013
53
59228
Olfr694
0.087
R0239
G1
225
Y
7
106689255
Y159H
A
G
missense
Het
probably benign
0.001
0.080
phenotype
07/11/2013
54
59209
Orc1
1.000
R0239
G1
202
Y
4
108595646
T
C
critical splice donor site
2 bp
Het
probably null
0.949
phenotype
07/11/2013
55
59241
Otogl
0.000
R0239
G1
225
Y
10
107806696
N1291I
T
A
missense
Het
probably damaging
0.983
0.251
phenotype
07/11/2013
56
500161
Pah
0.000
R0239
G1
225
N
10
87567281
P173S
C
T
missense
Het
possibly damaging
0.737
0.917
phenotype
12/01/2017
57
59267
Pga5
0.079
R0239
G1
225
Y
19
10669453
Y305H
A
G
missense
Het
probably damaging
0.999
0.647
07/11/2013
58
59223
Plekha4
0.109
R0239
G1
225
N
7
45532358
H62R
A
G
missense
Het
probably damaging
1.000
07/11/2013
59
59219
Plxnd1
1.000
R0239
G1
218
Y
6
115968793
D906E
G
T
missense
Het
probably benign
0.001
0.096
phenotype
07/11/2013
60
59190
Ppfia4
0.087
R0239
G1
225
Y
1
134329189
E98G
T
C
missense
Het
possibly damaging
0.892
0.155
07/11/2013
61
59260
Ptk2
1.000
R0239
G1
225
Y
15
73343283
A
T
splice site
2 bp
Het
probably null
0.076
phenotype
07/11/2013
62
59220
Pzp
0.073
R0239
G1
225
Y
6
128489156
C
T
splice site
Het
probably benign
0.090
phenotype
07/11/2013
63
59237
Raet1c
0.124
R0239
G1
225
Y
10
22180862
H112Q
C
A
missense
Het
possibly damaging
0.649
0.179
07/11/2013
64
59196
Scai
0.528
R0239
G1
204
Y
2
39075042
I597F
T
A
missense
Het
probably benign
0.001
0.090
phenotype
07/11/2013
65
59222
Scgb1b2
0.053
R0239
G1
209
Y
7
31291730
T
A
intron
Het
probably benign
0.090
07/11/2013
66
59268
Sec31b
0.103
R0239
G1
225
Y
19
44525469
G
A
unclassified
Het
probably benign
0.090
phenotype
07/11/2013
67
59201
Slc35c2
0.000
R0239
G1
225
Y
2
165280837
G176S
C
T
missense
Het
probably damaging
0.998
0.451
phenotype
07/11/2013
68
59255
Slc35f4
0.139
R0239
G1
225
Y
14
49304256
I347N
A
T
missense
Het
possibly damaging
0.780
0.763
07/11/2013
69
59200
Slc52a3
1.000
R0239
G1
225
Y
2
152008156
*461Q
T
C
makesense
Het
probably null
0.782
phenotype
07/11/2013
70
59218
Slc6a1
0.130
R0239
G1
225
Y
6
114302800
V142I
G
A
missense
Het
probably benign
0.131
0.142
phenotype
07/11/2013
71
59259
Tbc1d31
0.000
R0239
G1
167
Y
15
57940753
T388N
C
A
missense
Het
probably benign
0.135
0.077
07/11/2013
72
59187
Tmem131
0.791
R0239
G1
225
Y
1
36828050
T
C
splice site
Het
probably benign
07/11/2013
73
59250
Tmem63c
0.089
R0239
G1
225
Y
12
87075639
W404R
T
C
missense
Het
probably damaging
1.000
0.912
07/11/2013
74
59204
Tmem79
0.000
R0239
G1
225
Y
3
88333321
S107P
A
G
missense
Het
probably benign
0.000
0.090
phenotype
07/11/2013
75
59251
Trip11
1.000
R0239
G1
225
Y
12
101884728
E741K
C
T
missense
Het
probably damaging
1.000
0.099
phenotype
07/11/2013
76
59230
Trpm5
0.093
R0239
G1
182
Y
7
143082958
T414N
G
T
missense
Het
probably damaging
0.998
0.647
phenotype
07/11/2013
77
59232
Tsnaxip1
0.498
R0239
G1
225
Y
8
105844488
I660N
T
A
missense
Het
possibly damaging
0.956
0.179
07/11/2013
78
59236
Ube2q2
0.290
R0239
G1
225
Y
9
55163007
S78P
T
C
missense
Het
probably damaging
0.994
0.404
07/11/2013
79
59233
Vac14
0.000
R0239
G1
225
Y
8
110635375
A
T
critical splice acceptor site
Het
probably null
0.949
phenotype
07/11/2013
80
59266
Vps51
1.000
R0239
G1
204
Y
19
6071437
S185*
G
T
nonsense
Het
probably null
0.976
phenotype
07/11/2013
81
59214
Zfp11
0.076
R0239
G1
225
Y
5
129658238
G53E
C
T
missense
Het
possibly damaging
0.880
0.179
07/11/2013
82
261864
Zfp532
0.351
R0239
G1
71
Y
18
65682985
I810F
A
T
missense
Het
possibly damaging
0.630
0.059
02/04/2015
83
59235
Zfp599
0.080
R0239
G1
225
Y
9
22249759
C370Y
C
T
missense
Het
probably damaging
1.000
0.647
07/11/2013
[records 1 to 83 of 83]