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Incidental Mutations
63
incidental mutations are currently displayed, and affect
62
genes.
14
are Possibly Damaging.
23
are Probably Damaging.
20
are Probably Benign.
5
are Probably Null.
1
create premature stop codons.
1
are critical splice junction mutations.
Mutations in Coding Regions/Splice Sites Identified by Next-Gen Sequencing
[records 1 to 63 of 63]
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
59642
Actn4
0.813
R0067
G1
225
Y
7
28911570
V248M
C
T
missense
Het
possibly damaging
0.668
0.351
phenotype
07/11/2013
2
59639
Adamts9
1.000
R0067
G1
194
Y
6
92890167
K79N
T
A
missense
Het
probably damaging
0.983
0.647
phenotype
07/11/2013
3
59659
AW209491
0.269
R0067
G1
225
Y
13
14637743
I394F
A
T
missense
Het
probably benign
0.242
0.091
07/11/2013
4
261982
C130026I21Rik
0.304
R0067
G1
113
N
1
85270052
N5Y
T
A
missense
Het
probably benign
0.001
02/04/2015
5
59665
Cacna1d
0.832
R0067
G1
215
Y
14
30075010
A
T
unclassified
Het
probably benign
phenotype
07/11/2013
6
59669
Cacna1i
0.000
R0067
G1
177
Y
15
80381172
I1542F
A
T
missense
Het
probably damaging
0.999
0.662
phenotype
07/11/2013
7
59671
Cep97
1.000
R0067
G1
225
Y
16
55915561
N291K
A
T
missense
Het
possibly damaging
0.956
0.124
07/11/2013
8
59648
Clasp2
0.000
R0067
G1
223
Y
9
113860141
A
T
splice site
Het
probably benign
0.090
phenotype
07/11/2013
9
158515
Coq8b
1.000
R0067
G1
59
Y
7
27233481
L5P
T
C
missense
Het
possibly damaging
0.868
0.179
phenotype
03/10/2014
10
59675
Dennd1c
0.000
R0067
G1
225
Y
17
57075465
Q67R
T
C
missense
Het
probably damaging
1.000
0.540
phenotype
07/11/2013
11
59638
Dysf
0.000
R0067
G1
113
Y
6
84063331
V119A
T
C
missense
Het
possibly damaging
0.585
0.070
phenotype
07/11/2013
12
59658
Eml1
0.283
R0067
G1
89
Y
12
108463527
D23G
A
G
missense
Het
possibly damaging
0.607
0.179
phenotype
07/11/2013
13
59673
Eva1c
0.066
R0067
G1
225
Y
16
90866417
D13V
A
T
missense
Het
possibly damaging
0.650
0.087
phenotype
07/11/2013
14
59663
Fam151b
0.000
R0067
G1
160
Y
13
92473996
K95R
T
C
missense
Het
probably benign
0.078
0.202
07/11/2013
15
261983
Glo1
R0067
G1
110
N
17
30594271
A
T
splice site
Het
probably null
phenotype
02/04/2015
16
59660
Gm11360
R0067
G1
198
Y
13
27956231
M26K
T
A
missense
Het
probably benign
0.032
0.090
07/11/2013
17
18039
Gm13941
0.084
R0067
G1
Y
2
111059416
T
C
unclassified
Het
noncoding transcript
03/25/2013
18
59653
Gps2
0.850
R0067
G1
184
Y
11
69914781
Q42*
C
T
nonsense
Het
probably null
0.971
phenotype
07/11/2013
19
59646
Gypa
0.000
R0067
G1
225
Y
8
80503081
H102R
A
G
missense
Het
possibly damaging
0.711
0.254
phenotype
07/11/2013
20
59625
Hdac4
1.000
R0067
G1
96
Y
1
92029984
H103Y
G
A
missense
Het
probably damaging
0.999
0.138
phenotype
07/11/2013
21
59661
Hivep1
0.638
R0067
G1
215
Y
13
42158656
D1457E
T
A
missense
Het
probably benign
0.001
0.090
phenotype
07/11/2013
22
59672
Hunk
0.000
R0067
G1
99
Y
16
90447312
D110G
A
G
missense
Het
probably damaging
0.998
0.949
phenotype
07/11/2013
23
59630
L3mbtl1
0.000
R0067
G1
160
Y
2
162948828
K225E
A
G
missense
Het
probably damaging
0.999
0.157
phenotype
07/11/2013
24
59637
Limch1
0.152
R0067
G1
205
Y
5
66974622
S143G
A
G
missense
Het
probably damaging
0.988
0.108
07/11/2013
25
59635
Macf1
1.000
R0067
G1
225
Y
4
123475248
K342E
T
C
missense
Het
possibly damaging
0.904
0.063
phenotype
07/11/2013
26
16254
Mc5r
0.110
R0067
G1
Y
18
68339566
M332R
T
G
missense
Het
probably damaging
0.998
0.820
phenotype
01/20/2013
27
59678
Mc5r
0.110
R0067
G1
164
Y
18
68339566
M332K
T
A
missense
Het
probably damaging
0.997
0.833
phenotype
07/11/2013
28
16970
Mcf2l
0.000
R0067
G1
Y
8
13013060
T882A
A
G
missense
Het
probably benign
0.014
0.060
phenotype
01/20/2013
29
59676
Memo1
1.000
R0067
G1
205
Y
17
74225458
V185A
A
G
missense
Het
probably damaging
0.998
0.850
phenotype
07/11/2013
30
59650
Myf6
0.855
R0067
G1
158
Y
10
107493479
A
T
splice site
Het
probably null
0.976
phenotype
07/11/2013
31
59643
Myh14
0.000
R0067
G1
225
Y
7
44623127
T1418I
G
A
missense
Het
probably benign
0.048
0.106
phenotype
07/11/2013
32
59667
Pbk
0.736
R0067
G1
225
Y
14
65815226
V173I
G
A
missense
Het
possibly damaging
0.905
0.163
phenotype
07/11/2013
33
59640
Plekha5
0.284
R0067
G1
123
Y
6
140524903
T90I
C
T
missense
Het
probably damaging
0.996
0.194
07/11/2013
34
59631
Ptbp2
1.000
R0067
G1
190
Y
3
119720641
T478A
T
C
missense
Het
probably benign
0.002
0.058
phenotype
07/11/2013
35
59629
Rasgrp1
0.218
R0067
G1
225
Y
2
117294820
R246S
C
A
missense
Het
probably damaging
1.000
0.647
phenotype
07/11/2013
36
59654
Rflnb
0.000
R0067
G1
197
Y
11
76022161
S134T
A
T
missense
Het
possibly damaging
0.704
0.067
phenotype
07/11/2013
37
59647
Rnf214
0.850
R0067
G1
126
Y
9
45867498
A
G
critical splice donor site
2 bp
Het
probably null
0.949
07/11/2013
38
59656
Rps6ka5
0.000
R0067
G1
157
Y
12
100616083
I177F
T
A
missense
Het
probably damaging
0.996
0.699
phenotype
07/11/2013
39
59641
Rtn2
0.562
R0067
G1
215
Y
7
19294471
T
A
splice site
Het
probably benign
phenotype
07/11/2013
40
158518
Satb1
1.000
R0067
G1
42
Y
17
51804336
T165A
T
C
missense
Het
probably damaging
0.999
0.656
phenotype
03/10/2014
41
158517
Scamp1
0.000
R0067
G1
74
Y
13
94204150
Y237C
T
C
missense
Het
probably damaging
1.000
0.295
phenotype
03/10/2014
42
59633
Skint10
0.054
R0067
G1
225
Y
4
112711556
F321L
A
T
missense
Het
probably benign
0.000
0.090
07/11/2013
43
59664
Skiv2l2
0.964
R0067
G1
203
Y
13
112886862
V727I
C
T
missense
Het
probably benign
0.339
0.070
07/11/2013
44
59652
Slc36a2
0.293
R0067
G1
167
Y
11
55162640
A
G
splice site
Het
probably benign
phenotype
07/11/2013
45
59677
Slc8a1
1.000
R0067
G1
182
Y
17
81437759
V672A
A
G
missense
Het
probably benign
0.001
0.069
phenotype
07/11/2013
46
59668
Slitrk6
0.137
R0067
G1
191
Y
14
110749932
L781H
A
T
missense
Het
probably damaging
0.996
0.120
phenotype
07/11/2013
47
59670
Spats2
0.360
R0067
G1
124
N
15
99212287
P522T
C
A
missense
Het
possibly damaging
0.644
0.083
07/11/2013
48
59628
Stkld1
0.069
R0067
G1
152
Y
2
26949340
E339D
A
T
missense
Het
probably benign
0.006
0.090
07/11/2013
49
158516
Tbc1d9
0.249
R0067
G1
66
Y
8
83234243
T241A
A
G
missense
Het
probably damaging
0.998
0.241
03/10/2014
50
59644
Ticrr
0.951
R0067
G1
185
Y
7
79677410
D622V
A
T
missense
Het
probably damaging
0.998
0.095
phenotype
07/11/2013
51
59634
Tie1
1.000
R0067
G1
179
Y
4
118476280
A
G
splice site
Het
probably benign
0.090
phenotype
07/11/2013
52
59649
Trak1
0.277
R0067
G1
221
Y
9
121472907
V910L
G
C
missense
Het
probably damaging
1.000
0.188
phenotype
07/11/2013
53
59626
Trmt1l
0.000
R0067
G1
190
Y
1
151448380
V326A
T
C
missense
Het
probably benign
0.155
0.118
phenotype
07/11/2013
54
59655
Tshr
0.331
R0067
G1
168
Y
12
91505283
T136A
A
G
missense
Het
probably damaging
0.997
0.683
phenotype
07/11/2013
55
59636
Ube3c
0.000
R0067
G1
225
Y
5
29598938
T180A
A
G
missense
Het
possibly damaging
0.942
0.084
07/11/2013
56
59645
Unc13a
1.000
R0067
G1
225
Y
8
71634658
F1482V
A
C
missense
Het
probably damaging
0.995
0.929
phenotype
07/11/2013
57
59657
Unc79
1.000
R0067
G1
220
Y
12
103059518
E388G
A
G
missense
Het
probably damaging
1.000
0.120
phenotype
07/11/2013
58
59627
Ush2a
0.499
R0067
G1
146
Y
1
188964846
D5167V
A
T
missense
Het
probably damaging
0.994
0.338
phenotype
07/11/2013
59
59674
Vmn2r93
0.073
R0067
G1
171
Y
17
18326410
H848L
A
T
missense
Het
probably benign
0.005
0.090
07/11/2013
60
59666
Wdfy4
0.000
R0067
G1
166
Y
14
33162751
R65C
G
A
missense
Het
probably null
1.000
0.666
07/11/2013
61
59662
Zcchc9
0.963
R0067
G1
225
Y
13
91797249
I72V
T
C
missense
Het
probably benign
0.000
0.090
07/11/2013
62
59651
Zfc3h1
0.938
R0067
G1
184
Y
10
115423474
L1650F
G
T
missense
Het
possibly damaging
0.881
0.115
07/11/2013
63
59632
Zzz3
1.000
R0067
G1
225
Y
3
152428403
D366G
A
G
missense
Het
possibly damaging
0.880
0.104
07/11/2013
[records 1 to 63 of 63]