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Incidental Mutations
75
incidental mutations are currently displayed, and affect
75
genes.
7
are Possibly Damaging.
25
are Probably Damaging.
28
are Probably Benign.
12
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 75 of 75]
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
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
307332
Acad12
0.062
R3917
G1
225
Y
5
121599214
V498A
A
G
missense
Het
probably damaging
0.998
0.804
04/17/2015
2
307363
Adam19
1.000
R3917
G1
225
Y
11
46060935
E37G
A
G
missense
Het
probably benign
0.252
0.083
phenotype
04/17/2015
3
307380
Apol11b
0.050
R3917
G1
225
Y
15
77635304
I192T
A
G
missense
Het
probably benign
0.025
0.090
04/17/2015
4
307377
Appl1
0.160
R3917
G1
225
Y
14
26928604
F537Y
A
T
missense
Het
probably damaging
1.000
0.304
phenotype
04/17/2015
5
307369
Atad5
1.000
R3917
G1
225
Y
11
80103294
K785N
A
C
missense
Het
probably null
0.966
0.976
phenotype
04/17/2015
6
307366
Atp1b2
0.917
R3917
G1
225
Y
11
69603075
V93A
A
G
missense
Het
probably damaging
0.989
0.515
phenotype
04/17/2015
7
307343
Bcam
0.000
R3917
G1
225
Y
7
19765450
Y216C
T
C
missense
Het
probably damaging
1.000
0.628
phenotype
04/17/2015
8
307337
Brca2
1.000
R3917
G1
225
Y
5
150540827
E1352G
A
G
missense
Het
probably damaging
0.961
0.117
phenotype
04/17/2015
9
307360
C030005K15Rik
0.058
R3917
G1
225
Y
10
97725591
S93A
A
C
missense
Het
unknown
0.087
04/17/2015
10
307376
Cadps
1.000
R3917
G1
225
Y
14
12457702
A1060T
C
T
missense
Het
probably benign
0.003
0.060
phenotype
04/17/2015
11
307375
Ccdc88c
0.000
R3917
G1
225
Y
12
100941107
A
G
critical splice donor site
2 bp
Het
probably null
0.958
phenotype
04/17/2015
12
307346
Ccdc89
0.223
R3917
G1
225
Y
7
90426825
D81G
A
G
missense
Het
probably damaging
1.000
0.304
04/17/2015
13
307382
Ccnt1
0.937
R3917
G1
225
Y
15
98544059
S443P
A
G
missense
Het
probably benign
0.002
0.068
phenotype
04/17/2015
14
307356
Cd109
0.000
R3917
G1
217
Y
9
78712500
CATTTATTTATTTATTTATTTATTTATTTATTTAT
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT
critical splice acceptor site
Het
probably benign
0.090
phenotype
04/17/2015
15
307321
Cdc42bpa
0.473
R3917
G1
225
Y
1
180106154
T
C
critical splice donor site
2 bp
Het
probably null
0.949
phenotype
04/17/2015
16
307330
Cdk11b
1.000
R3917
G1
225
Y
4
155626801
S47P
T
C
missense
Het
probably damaging
0.997
0.136
phenotype
04/17/2015
17
307391
Cfap43
0.136
R3917
G1
225
Y
19
47897750
D142G
T
C
missense
Het
probably benign
0.002
0.090
phenotype
04/17/2015
18
307352
Cntnap4
0.102
R3917
G1
165
Y
8
112875533
P1190A
C
G
missense
Het
probably benign
0.023
0.091
phenotype
04/17/2015
19
307319
Colgalt2
0.063
R3917
G1
225
Y
1
152508611
Y567*
T
A
nonsense
Het
probably null
0.976
04/17/2015
20
307318
Dner
0.000
R3917
G1
108
Y
1
84585549
CGCTGCTGCTGCTGCTGCTGCTGCTGC
CGCTGCTGCTGCTGCTGCTGCTGC
utr 5 prime
Het
probably benign
phenotype
04/17/2015
21
307327
Dock7
0.000
R3917
G1
225
Y
4
99016685
Y651C
T
C
missense
Het
probably damaging
1.000
0.220
phenotype
04/17/2015
22
307378
Fzd3
1.000
R3917
G1
225
Y
14
65235930
F130I
A
T
missense
Het
probably damaging
0.967
0.581
phenotype
04/17/2015
23
307351
Gabarapl2
1.000
R3917
G1
225
Y
8
111952396
F115L
T
A
missense
Het
probably benign
0.055
0.281
04/17/2015
24
307331
Gm1043
0.054
R3917
G1
225
Y
5
37192941
G
A
intron
Het
probably benign
04/17/2015
25
307364
Gm12185
0.075
R3917
G1
225
Y
11
48915933
F144L
A
G
missense
Het
probably benign
0.010
0.286
04/17/2015
26
307323
Gm14124
0.072
R3917
G1
225
Y
2
150266119
T
A
splice site
Het
probably benign
04/17/2015
27
307379
Gm21961
0.081
R3917
G1
225
Y
15
65014884
D7E
A
T
missense
Het
unknown
0.087
04/17/2015
28
307336
Gtf3a
0.933
R3917
G1
225
Y
5
146955434
K332E
A
G
missense
Het
probably benign
0.262
0.208
phenotype
04/17/2015
29
307387
Haao
0.000
R3917
G1
225
Y
17
83838799
A
G
critical splice donor site
2 bp
Het
probably null
0.959
phenotype
04/17/2015
30
307393
Habp2
0.068
R3917
G1
225
Y
19
56311179
C170S
T
A
missense
Het
probably damaging
1.000
0.969
phenotype
04/17/2015
31
307350
Heatr3
0.940
R3917
G1
225
Y
8
88150371
T
G
critical splice donor site
2 bp
Het
probably null
0.949
phenotype
04/17/2015
32
307355
Herc1
0.000
R3917
G1
225
Y
9
66434466
C1846G
T
G
missense
Het
possibly damaging
0.942
0.448
phenotype
04/17/2015
33
307328
Hivep3
0.000
R3917
G1
225
Y
4
120099427
S1647P
T
C
missense
Het
probably benign
0.268
0.101
phenotype
04/17/2015
34
307344
Hnrnpul1
0.638
R3917
G1
225
Y
7
25726875
R517Q
C
T
missense
Het
probably damaging
0.999
0.685
phenotype
04/17/2015
35
307329
Hspg2
1.000
R3917
G1
129
Y
4
137559314
E3648G
A
G
missense
Het
probably damaging
1.000
0.456
phenotype
04/17/2015
36
307354
Jaml
0.054
R3917
G1
225
Y
9
45101151
T
C
unclassified
Het
probably benign
0.090
04/17/2015
37
359673
Jund
0.881
R3917
G1
53.1
Y
8
70699023
C
T
unclassified
Het
probably benign
phenotype
11/13/2015
38
307339
Klra14-ps
0.153
R3917
G1
225
Y
6
130157632
T
C
splice site
Het
noncoding transcript
04/17/2015
39
307383
Krt88
0.000
R3917
G1
225
Y
15
101452928
G
A
splice site
5 bp
Het
probably null
0.976
04/17/2015
40
307389
Lrp5
0.887
R3917
G1
225
Y
19
3612330
R173C
G
A
missense
Het
probably damaging
1.000
0.883
phenotype
04/17/2015
41
307359
Lyzl4
0.051
R3917
G1
225
Y
9
121583035
D105V
T
A
missense
Het
probably damaging
0.995
0.647
phenotype
04/17/2015
42
307358
Mst1
0.000
R3917
G1
225
Y
9
108084295
I575V
A
G
missense
Het
probably benign
0.002
0.090
phenotype
04/17/2015
43
474744
Myd88
0.000
R3917
G1
225
N
9
119341398
T
C
utr 5 prime
Het
probably benign
phenotype
04/14/2017
44
307370
Myo1d
0.000
R3917
G1
225
Y
11
80666578
V512E
A
T
missense
Het
probably damaging
1.000
0.975
04/17/2015
45
307390
Ndufv1
1.000
R3917
G1
225
Y
19
4010002
Y33H
A
G
missense
Het
probably damaging
1.000
0.945
phenotype
04/17/2015
46
307349
Nwd1
0.151
R3917
G1
225
Y
8
72667811
C608*
T
A
nonsense
Het
probably null
0.976
phenotype
04/17/2015
47
307385
Olfr118
0.077
R3917
G1
225
Y
17
37672793
F257I
T
A
missense
Het
probably damaging
1.000
0.507
phenotype
04/17/2015
48
307353
Olfr884
0.087
R3917
G1
225
Y
9
38047545
I108F
A
T
missense
Het
probably damaging
1.000
0.514
phenotype
04/17/2015
49
307326
Patj
0.000
R3917
G1
225
Y
4
98592008
K1317*
A
T
nonsense
Het
probably null
0.975
phenotype
04/17/2015
50
307320
Pld5
0.000
R3917
G1
225
Y
1
175963938
S501P
A
G
missense
Het
probably benign
0.003
0.090
phenotype
04/17/2015
51
307372
Pnpo
0.557
R3917
G1
225
Y
11
96939757
V146A
A
G
missense
Het
probably damaging
0.997
0.361
phenotype
04/17/2015
52
307324
Ppdpf
0.000
R3917
G1
207
Y
2
181187728
Y16C
A
G
missense
Het
probably benign
0.191
0.301
04/17/2015
53
307373
Ppp1r27
0.155
R3917
G1
225
Y
11
120550959
V32A
A
G
missense
Het
possibly damaging
0.890
0.114
04/17/2015
54
307338
Rbm28
0.945
R3917
G1
225
Y
6
29154789
D294G
T
C
missense
Het
probably benign
0.004
0.090
phenotype
04/17/2015
55
307335
Sdk1
0.071
R3917
G1
225
Y
5
142051244
D817E
T
A
missense
Het
probably damaging
0.981
0.647
phenotype
04/17/2015
56
307381
Shank3
0.282
R3917
G1
225
Y
15
89503384
D252G
A
G
missense
Het
possibly damaging
0.768
0.246
phenotype
04/17/2015
57
307386
Slc29a1
0.000
R3917
G1
225
Y
17
45588973
A
T
splice site
799 bp
Het
probably null
0.976
phenotype
04/17/2015
58
474746
Slc35a5
0.149
R3917
G1
183
N
16
45158158
G
C
intron
Het
probably benign
phenotype
04/14/2017
59
307345
Slc6a5
1.000
R3917
G1
225
Y
7
49911869
S50P
T
C
missense
Het
probably damaging
1.000
0.103
phenotype
04/17/2015
60
307371
Slfn8
0.096
R3917
G1
225
Y
11
83016993
Y241*
A
T
nonsense
Het
probably null
0.971
04/17/2015
61
307362
Slu7
1.000
R3917
G1
225
Y
11
43440684
G
T
splice site
5 bp
Het
probably null
0.976
phenotype
04/17/2015
62
307388
Smad2
1.000
R3917
G1
225
Y
18
76287937
D82E
T
A
missense
Het
probably benign
0.417
0.523
phenotype
04/17/2015
63
307340
Spx
0.000
R3917
G1
225
Y
6
142414031
E33A
A
C
missense
Het
probably damaging
0.989
0.077
phenotype
04/17/2015
64
307374
Tdp1
0.196
R3917
G1
225
Y
12
99894717
Y205C
A
G
missense
Het
probably damaging
1.000
0.925
phenotype
04/17/2015
65
307367
Tekt1
0.177
R3917
G1
225
N
11
72345748
I296T
A
G
missense
Het
possibly damaging
0.831
phenotype
04/17/2015
66
359674
Tgm1
0.925
R3917
G1
99
Y
14
55712757
G
A
splice site
Het
probably benign
0.090
phenotype
11/13/2015
67
307348
Tnks
0.000
R3917
G1
225
Y
8
34853361
S719P
A
G
missense
Het
probably damaging
1.000
0.901
phenotype
04/17/2015
68
307334
Trip6
0.000
R3917
G1
225
Y
5
137313679
C47R
A
G
missense
Het
probably benign
0.403
0.095
phenotype
04/17/2015
69
307368
Trpv3
0.074
R3917
G1
225
Y
11
73283734
D309G
A
G
missense
Het
possibly damaging
0.866
0.474
phenotype
04/17/2015
70
307347
Tti2
1.000
R3917
G1
225
Y
8
31153519
K221E
A
G
missense
Het
possibly damaging
0.943
0.161
phenotype
04/17/2015
71
307325
Ugcg
1.000
R3917
G1
225
Y
4
59207798
P46S
C
T
missense
Het
probably benign
0.175
0.080
phenotype
04/17/2015
72
307342
Vmn1r57
0.055
R3917
G1
225
Y
7
5220631
N52Y
A
T
missense
Het
probably damaging
1.000
0.647
04/17/2015
73
307384
Vmn2r94
0.102
R3917
G1
225
Y
17
18244358
F557L
A
G
missense
Het
probably benign
0.000
0.090
04/17/2015
74
307333
Zbed5
0.000
R3917
G1
225
Y
5
129902277
Y356H
T
C
missense
Het
possibly damaging
0.915
0.179
phenotype
04/17/2015
75
307357
Zic4
0.217
R3917
G1
225
Y
9
91384341
C
A
splice site
Het
probably benign
0.090
phenotype
04/17/2015
[records 1 to 75 of 75]