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Incidental Mutations
71
incidental mutations are currently displayed, and affect
71
genes.
9
are Possibly Damaging.
19
are Probably Damaging.
31
are Probably Benign.
9
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 71 of 71]
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
250793
Asic2
0.000
R2679
G1
205
Y
11
81151954
V171A
A
G
missense
Het
probably benign
0.133
0.140
phenotype
12/04/2014
2
250753
Atf7ip
0.827
R2679
G1
225
Y
6
136566651
I641L
A
T
missense
Het
possibly damaging
0.623
0.102
phenotype
12/04/2014
3
250699
Atrn
0.000
R2679
G1
225
Y
2
130961675
G
A
critical splice donor site
1 bp
Het
probably null
0.959
phenotype
12/04/2014
4
250704
Bpifb4
0.053
R2679
G1
225
Y
2
153948624
I145T
T
C
missense
Het
probably damaging
0.971
0.214
12/04/2014
5
250765
Bub3
1.000
R2679
G1
225
Y
7
131568725
A
G
splice site
4 bp
Het
probably null
0.976
phenotype
12/04/2014
6
250808
Catsperb
0.065
R2679
G1
225
Y
12
101463145
D192E
T
A
missense
Het
probably damaging
1.000
0.186
12/04/2014
7
250838
Ccdc178
0.000
R2679
G1
225
Y
18
21811556
H849Y
G
A
missense
Het
possibly damaging
0.900
0.165
12/04/2014
8
250720
Cd101
0.000
R2679
G1
225
Y
3
100993763
Q998K
G
T
missense
Het
probably benign
0.004
0.090
phenotype
12/04/2014
9
250738
Cep135
1.000
R2679
G1
225
N
5
76624660
M631L
A
T
missense
Het
probably benign
0.000
phenotype
12/04/2014
10
250744
Cit
0.949
R2679
G1
225
Y
5
115969115
V1102A
T
C
missense
Het
probably benign
0.004
0.069
phenotype
12/04/2014
11
250688
Col4a4
0.093
R2679
G1
225
Y
1
82529611
T249M
G
A
missense
Het
unknown
0.087
phenotype
12/04/2014
12
250818
Cpne6
0.420
R2679
G1
225
Y
14
55516329
I415F
A
T
missense
Het
possibly damaging
0.945
0.905
phenotype
12/04/2014
13
250731
Cyp4b1
0.000
R2679
G1
225
Y
4
115628697
I348V
T
C
missense
Het
probably benign
0.006
0.110
phenotype
12/04/2014
14
250702
Defb28
0.085
R2679
G1
225
Y
2
152518282
S6P
T
C
missense
Het
possibly damaging
0.734
0.179
12/04/2014
15
250787
Dhrs7b
0.812
R2679
G1
225
Y
11
60852518
A
G
splice site
Het
probably benign
0.090
phenotype
12/04/2014
16
250814
Dhx29
1.000
R2679
G1
202
Y
13
112947376
T
C
critical splice donor site
2 bp
Het
probably null
0.960
phenotype
12/04/2014
17
250710
Egfem1
0.000
R2679
G1
225
Y
3
29670676
T476A
A
G
missense
Het
probably benign
0.014
0.090
12/04/2014
18
250834
Enpp5
0.000
R2679
G1
225
Y
17
44085388
D397G
A
G
missense
Het
probably damaging
0.999
0.151
phenotype
12/04/2014
19
250749
Eogt
0.274
R2679
G1
225
Y
6
97120800
T279I
G
A
missense
Het
probably benign
0.015
0.090
phenotype
12/04/2014
20
250714
Fnip2
0.000
R2679
G1
225
Y
3
79480926
H833Y
G
A
missense
Het
probably benign
0.133
0.090
phenotype
12/04/2014
21
250726
Gabrr2
0.000
R2679
G1
225
Y
4
33071435
T92S
A
T
missense
Het
probably damaging
1.000
0.647
phenotype
12/04/2014
22
250820
Gm10110
0.175
R2679
G1
220
Y
14
89897416
T
A
exon
Het
noncoding transcript
0.127
12/04/2014
23
250718
Gm4778
0.898
R2679
G1
225
Y
3
94265910
Y75F
A
T
missense
Het
probably damaging
1.000
0.647
12/04/2014
24
250716
Gria2
0.529
R2679
G1
225
Y
3
80740953
A
G
splice site
Het
probably benign
phenotype
12/04/2014
25
250691
Hmcn1
0.000
R2679
G1
225
Y
1
150652575
T3274N
G
T
missense
Het
possibly damaging
0.671
0.127
phenotype
12/04/2014
26
250757
Hnrnpul1
0.617
R2679
G1
225
Y
7
25726875
R517Q
C
T
missense
Het
probably damaging
0.999
0.685
phenotype
12/04/2014
27
250832
Hspa1b
0.573
R2679
G1
156
N
17
34957303
K569E
T
C
missense
Het
probably benign
0.091
phenotype
12/04/2014
28
476674
Ighv1-82
0.181
R2679
G1
225
N
12
115952752
Y46C
T
C
missense
Het
probably damaging
1.000
05/15/2017
29
250797
Itga3
1.000
R2679
G1
225
Y
11
95068310
A
T
splice site
Het
probably benign
0.090
phenotype
12/04/2014
30
250724
Lrrc7
0.622
R2679
G1
225
Y
3
158175108
R552*
T
A
nonsense
Het
probably null
0.972
phenotype
12/04/2014
31
250795
Med13
0.952
R2679
G1
225
Y
11
86298577
S1169P
A
G
missense
Het
probably benign
0.002
0.070
phenotype
12/04/2014
32
250824
Muc4
0.093
R2679
G1
225
Y
16
32757472
D2374E
T
A
missense
Het
unknown
0.087
phenotype
12/04/2014
33
250706
Myl9
0.374
R2679
G1
225
Y
2
156780506
L70Q
T
A
missense
Het
probably damaging
0.999
0.960
phenotype
12/04/2014
34
250694
Nebl
0.000
R2679
G1
223
Y
2
17424591
S243N
C
T
missense
Het
probably benign
0.026
0.090
12/04/2014
35
250773
Nfat5
0.907
R2679
G1
225
Y
8
107344914
Y314C
A
G
missense
Het
probably damaging
1.000
0.939
phenotype
12/04/2014
36
250771
Nr2f6
0.000
R2679
G1
147
Y
8
71374736
D307V
T
A
missense
Het
probably damaging
0.998
0.826
phenotype
12/04/2014
37
250685
Nrp2
0.955
R2679
G1
225
Y
1
62785078
S781P
T
C
missense
Het
probably benign
0.005
0.093
phenotype
12/04/2014
38
250733
Nub1
0.857
R2679
G1
225
Y
5
24692925
T103I
C
T
missense
Het
possibly damaging
0.931
0.082
phenotype
12/04/2014
39
250698
Olfr32
0.102
R2679
G1
225
Y
2
90138545
V198D
A
T
missense
Het
possibly damaging
0.928
0.179
phenotype
12/04/2014
40
250759
Olfr572
0.078
R2679
G1
218
Y
7
102928031
Y134*
T
A
nonsense
Het
probably null
0.976
phenotype
12/04/2014
41
250712
Pex5l
0.501
R2679
G1
225
Y
3
33082052
M6K
A
T
missense
Het
probably benign
0.024
0.091
phenotype
12/04/2014
42
250779
Pgm3
0.950
R2679
G1
225
Y
9
86569321
C93W
A
C
missense
Het
probably benign
0.319
0.141
phenotype
12/04/2014
43
250683
Pkhd1
0.143
R2679
G1
225
Y
1
20209182
S2971P
A
G
missense
Het
probably benign
0.025
0.073
phenotype
12/04/2014
44
250822
Pkhd1l1
0.000
R2679
G1
225
Y
15
44545386
L2423P
T
C
missense
Het
probably damaging
0.994
0.275
12/04/2014
45
476676
Prkce
0.000
R2679
G1
225
N
17
86176226
A
G
intron
Het
probably benign
phenotype
05/15/2017
46
250730
Ptbp3
0.437
R2679
G1
225
Y
4
59494615
A
G
splice site
Het
probably benign
0.090
phenotype
12/04/2014
47
250708
Ptgis
0.000
R2679
G1
225
Y
2
167208193
M339L
T
A
missense
Het
probably benign
0.380
0.090
phenotype
12/04/2014
48
250806
Pxdn
0.545
R2679
G1
225
Y
12
29975569
T
C
splice site
Het
probably benign
0.090
phenotype
12/04/2014
49
250828
Rab44
0.072
R2679
G1
225
Y
17
29144477
T
A
splice site
Het
probably null
0.976
12/04/2014
50
250840
Ric1
0.466
R2679
G1
225
Y
19
29604030
S1275G
A
G
missense
Het
probably benign
0.000
0.097
12/04/2014
51
250800
Rnf213
0.000
R2679
G1
225
Y
11
119459938
C
A
splice site
Het
probably null
0.976
phenotype
12/04/2014
52
250789
Rtn4rl1
0.176
R2679
G1
219
Y
11
75265726
E328V
A
T
missense
Het
probably benign
0.210
0.062
phenotype
12/04/2014
53
250769
Saraf
0.000
R2679
G1
225
Y
8
34165274
T169I
C
T
missense
Het
probably damaging
1.000
0.724
12/04/2014
54
476671
Sbk2
0.000
R2679
G1
225
N
7
4957120
T
A
splice site
402 bp
Het
probably null
05/15/2017
55
250763
Setd1a
1.000
R2679
G1
225
Y
7
127795724
T
G
unclassified
Het
probably benign
0.090
phenotype
12/04/2014
56
250728
Sit1
0.059
R2679
G1
225
Y
4
43483157
Y73H
A
G
missense
Het
probably damaging
1.000
0.146
phenotype
12/04/2014
57
250830
Slc44a4
0.000
R2679
G1
196
Y
17
34923423
T
C
splice site
Het
probably benign
phenotype
12/04/2014
58
250751
Tas2r125
0.067
R2679
G1
225
Y
6
132910227
T193A
A
G
missense
Het
probably benign
0.430
0.119
12/04/2014
59
250785
Tbc1d9b
0.276
R2679
G1
225
Y
11
50161701
T
A
splice site
6 bp
Het
probably null
0.976
12/04/2014
60
250747
Tcf7l1
1.000
R2679
G1
225
Y
6
72627420
H580Q
G
T
missense
Het
probably benign
0.434
0.135
phenotype
12/04/2014
61
250761
Tead1
1.000
R2679
G1
225
Y
7
112856846
S115A
T
G
missense
Het
probably damaging
0.998
0.582
phenotype
12/04/2014
62
250816
Top2b
0.916
R2679
G1
225
Y
14
16413947
G29D
G
A
missense
Het
probably damaging
1.000
0.172
phenotype
12/04/2014
63
250742
Trpv4
0.281
R2679
G1
188
Y
5
114635552
C250S
A
T
missense
Het
probably damaging
1.000
0.217
phenotype
12/04/2014
64
250781
U2surp
0.948
R2679
G1
225
Y
9
95476232
I655S
A
C
missense
Het
possibly damaging
0.821
0.223
12/04/2014
65
250842
Ube2a
0.436
R2679
G1
222
Y
X
36874707
G
A
splice site
Het
probably benign
0.090
phenotype
12/04/2014
66
250777
Ubl7
0.161
R2679
G1
225
Y
9
57914599
D77G
A
G
missense
Het
probably damaging
0.983
0.094
12/04/2014
67
250755
Vmn1r91
0.178
R2679
G1
225
N
7
20102058
C301R
T
C
missense
Het
probably damaging
0.973
12/04/2014
68
250826
Vmn2r90
0.112
R2679
G1
225
Y
17
17712869
R230S
A
T
missense
Het
possibly damaging
0.463
0.179
12/04/2014
69
250740
Wdfy3
0.931
R2679
G1
225
Y
5
101870036
E2560V
T
A
missense
Het
probably damaging
0.995
0.145
phenotype
12/04/2014
70
250812
Zfp273
0.080
R2679
G1
225
Y
13
67825776
A341V
C
T
missense
Het
probably benign
0.390
0.274
12/04/2014
71
250736
Zfp512
0.383
R2679
G1
225
Y
5
31465454
A33V
C
T
missense
Het
probably benign
0.001
0.090
phenotype
12/04/2014
[records 1 to 71 of 71]