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Incidental Mutations
81
incidental mutations are currently displayed, and affect
81
genes.
21
are Possibly Damaging.
30
are Probably Damaging.
21
are Probably Benign.
6
are Probably Null.
1
create premature stop codons.
4
are critical splice junction mutations.
Mutations in Coding Regions/Splice Sites Identified by Next-Gen Sequencing
[records 1 to 81 of 81]
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
194456
1110065P20Rik
R1767
G1
180
N
4
124849961
N128S
T
C
missense
Het
possibly damaging
0.707
05/23/2014
2
194502
1700011H14Rik
0.059
R1767
G1
225
N
14
49235884
T128I
G
A
missense
Het
probably benign
0.095
0.156
05/23/2014
3
194477
Adam26b
0.091
R1767
G1
225
N
8
43519911
I685F
T
A
missense
Het
probably benign
0.001
0.121
05/23/2014
4
194522
Adgrf5
0.146
R1767
G1
225
N
17
43450564
Y1050F
A
T
missense
Het
possibly damaging
0.870
phenotype
05/23/2014
5
194515
Alcam
0.221
R1767
G1
225
N
16
52270714
N480K
A
T
missense
Het
probably damaging
1.000
0.546
phenotype
05/23/2014
6
194523
Alk
0.151
R1767
G1
225
N
17
71900698
H1014L
T
A
missense
Het
possibly damaging
0.729
phenotype
05/23/2014
7
194448
Arhgef2
0.309
R1767
G1
99
N
3
88643953
Q778R
A
G
missense
Het
probably damaging
0.998
0.106
phenotype
05/23/2014
8
194530
Arhgef6
0.000
R1767
G1
222
N
X
57338562
M5V
T
C
missense
Het
probably benign
0.008
0.144
phenotype
05/23/2014
9
194485
Ascc3
0.968
R1767
G1
225
N
10
50718376
I1189N
T
A
missense
Het
probably damaging
0.967
0.302
phenotype
05/23/2014
10
194457
AU040320
0.582
R1767
G1
225
N
4
126840724
G713D
G
A
missense
Het
probably damaging
1.000
0.446
phenotype
05/23/2014
11
194501
Bmpr1a
1.000
R1767
G1
225
N
14
34447770
A
G
critical splice donor site
2 bp
Het
probably null
phenotype
05/23/2014
12
194445
Bpifa6
0.078
R1767
G1
225
N
2
153987227
T225A
A
G
missense
Het
possibly damaging
0.955
05/23/2014
13
194491
Cacna1g
0.362
R1767
G1
168
N
11
94459802
S406G
T
C
missense
Het
probably benign
0.347
0.038
phenotype
05/23/2014
14
194494
Ccdc40
0.273
R1767
G1
225
N
11
119230696
T
A
critical splice donor site
2 bp
Het
probably null
phenotype
05/23/2014
15
194474
Cckbr
0.061
R1767
G1
225
N
7
105434551
I229F
A
T
missense
Het
possibly damaging
0.564
phenotype
05/23/2014
16
194471
Cers3
0.121
R1767
G1
225
N
7
66783403
K156R
A
G
missense
Het
probably damaging
1.000
phenotype
05/23/2014
17
194518
Chd1
0.000
R1767
G1
225
N
17
15770303
W1706R
T
A
missense
Het
probably damaging
0.998
phenotype
05/23/2014
18
194521
Col11a2
0.431
R1767
G1
225
N
17
34063895
T
A
unclassified
Het
probably benign
phenotype
05/23/2014
19
194433
Coq10b
0.197
R1767
G1
225
N
1
55061354
R66G
A
G
missense
Het
probably damaging
0.986
0.035
05/23/2014
20
194512
Cpn2
0.022
R1767
G1
225
N
16
30259667
Y405*
A
T
nonsense
Het
probably null
0.647
05/23/2014
21
194505
Dis3
0.974
R1767
G1
225
N
14
99084142
Y590N
A
T
missense
Het
probably damaging
1.000
05/23/2014
22
194479
Dpy19l1
0.113
R1767
G1
225
N
9
24462584
H270R
T
C
missense
Het
probably benign
0.348
05/23/2014
23
194498
Dync1h1
1.000
R1767
G1
225
N
12
110636509
E2195K
G
A
missense
Het
probably benign
0.044
0.266
phenotype
05/23/2014
24
194438
Ephx1
0.544
R1767
G1
225
N
1
180994677
G101S
C
T
missense
Het
probably damaging
0.999
0.024
phenotype
05/23/2014
25
194449
Flg
0.143
R1767
G1
225
N
3
93279913
Y224F
A
T
missense
Het
possibly damaging
0.907
0.062
phenotype
05/23/2014
26
194452
Focad
0.385
R1767
G1
225
N
4
88357468
V1105L
G
T
missense
Het
unknown
05/23/2014
27
194459
Fzd1
0.000
R1767
G1
225
N
5
4756812
Y257H
A
G
missense
Het
probably benign
0.000
phenotype
05/23/2014
28
194461
Gm11116
0.158
R1767
G1
225
N
5
88111452
T
C
unclassified
Het
probably benign
0.130
05/23/2014
29
194492
Gm11938
0.207
R1767
G1
225
N
11
99603245
S8F
G
A
missense
Het
unknown
05/23/2014
30
194467
Gm9008
0.162
R1767
G1
225
N
6
76497605
N9K
A
T
missense
Het
unknown
05/23/2014
31
194451
Grin3a
0.000
R1767
G1
225
N
4
49844423
V220E
A
T
missense
Het
probably damaging
0.998
0.140
phenotype
05/23/2014
32
194486
Gstt2
0.000
R1767
G1
225
N
10
75834264
D8G
T
C
missense
Het
probably damaging
0.999
0.176
phenotype
05/23/2014
33
194432
Gtf3c3
0.935
R1767
G1
225
N
1
54417778
A488T
C
T
missense
Het
probably damaging
0.998
0.348
phenotype
05/23/2014
34
194476
Hook3
0.379
R1767
G1
225
N
8
26071056
A
G
critical splice donor site
2 bp
Het
probably null
phenotype
05/23/2014
35
194468
Itpr2
0.000
R1767
G1
225
N
6
146350068
D993G
T
C
missense
Het
possibly damaging
0.910
phenotype
05/23/2014
36
194480
Jhy
0.029
R1767
G1
225
N
9
40961148
R22G
T
C
missense
Het
probably benign
0.072
phenotype
05/23/2014
37
194493
Krt13
0.404
R1767
G1
225
N
11
100121100
H132Q
A
C
missense
Het
possibly damaging
0.840
0.066
phenotype
05/23/2014
38
194516
Krtap27-1
0.074
R1767
G1
225
N
16
88671311
S115L
G
A
missense
Het
probably damaging
0.998
05/23/2014
39
194453
L1td1
0.134
R1767
G1
225
N
4
98737449
V627A
T
C
missense
Het
probably benign
0.316
0.104
phenotype
05/23/2014
40
194527
Lrrn4cl
0.074
R1767
G1
225
N
19
8851771
T38A
A
G
missense
Het
probably benign
0.016
0.132
05/23/2014
41
194430
Ly96
0.118
R1767
G1
225
N
1
16706175
T112A
A
G
missense
Het
probably benign
0.002
0.026
phenotype
05/23/2014
42
194513
Meltf
0.000
R1767
G1
225
N
16
31883929
C158F
G
T
missense
Het
probably damaging
0.995
0.534
phenotype
05/23/2014
43
194506
Mycbp2
1.000
R1767
G1
225
N
14
103248405
H1040Q
A
T
missense
Het
probably damaging
0.979
0.138
phenotype
05/23/2014
44
194526
Npas4
0.520
R1767
G1
225
N
19
4988183
P199L
G
A
missense
Het
probably benign
0.048
0.074
phenotype
05/23/2014
45
194443
Olfr1087
0.217
R1767
G1
225
N
2
86690384
M197T
A
G
missense
Het
probably benign
0.006
phenotype
05/23/2014
46
194475
Olfr530
0.039
R1767
G1
225
N
7
140373476
I45V
T
C
missense
Het
possibly damaging
0.955
phenotype
05/23/2014
47
194473
Olfr569
0.311
R1767
G1
225
N
7
102887626
I176F
T
A
missense
Het
probably damaging
1.000
phenotype
05/23/2014
48
194447
Pcdh10
0.272
R1767
G1
225
N
3
45384177
H923L
A
T
missense
Het
probably damaging
0.999
0.246
phenotype
05/23/2014
49
194450
Pias3
0.635
R1767
G1
225
N
3
96701403
S228P
T
C
missense
Het
probably damaging
0.998
0.038
phenotype
05/23/2014
50
194436
Pign
0.533
R1767
G1
225
N
1
105653192
V154A
A
G
missense
Het
probably benign
0.194
0.144
phenotype
05/23/2014
51
194464
Plod3
1.000
R1767
G1
225
N
5
136990176
V305E
T
A
missense
Het
possibly damaging
0.893
phenotype
05/23/2014
52
194442
Prkra
0.602
R1767
G1
225
N
2
76647240
H40Q
G
T
missense
Het
possibly damaging
0.633
0.072
phenotype
05/23/2014
53
194520
Prss22
0.219
R1767
G1
225
N
17
23996357
E148D
T
A
missense
Het
probably benign
0.336
phenotype
05/23/2014
54
194469
Psg17
0.063
R1767
G1
225
N
7
18816802
V376A
A
G
missense
Het
possibly damaging
0.599
05/23/2014
55
194514
Retnlg
0.028
R1767
G1
225
N
16
48873628
D49V
A
T
missense
Het
possibly damaging
0.543
0.063
05/23/2014
56
194511
Rtp1
0.029
R1767
G1
205
N
16
23431374
E163G
A
G
missense
Het
probably damaging
0.984
0.076
phenotype
05/23/2014
57
194484
Slc6a20a
0.163
R1767
G1
220
N
9
123637100
I522F
T
A
missense
Het
probably damaging
1.000
0.238
phenotype
05/23/2014
58
194429
Slco5a1
0.144
R1767
G1
225
N
1
12989615
D294G
T
C
missense
Het
probably damaging
1.000
phenotype
05/23/2014
59
194435
Slco6d1
0.058
R1767
G1
225
N
1
98490549
T487A
A
G
missense
Het
possibly damaging
0.899
05/23/2014
60
194489
Smarcc2
0.897
R1767
G1
225
N
10
128469082
D262V
A
T
missense
Het
possibly damaging
0.915
phenotype
05/23/2014
61
194434
Sned1
0.075
R1767
G1
225
N
1
93281654
V830M
G
A
missense
Het
possibly damaging
0.895
0.144
05/23/2014
62
194454
Ssbp3
1.000
R1767
G1
225
N
4
107047415
D336Y
G
T
missense
Het
probably damaging
1.000
0.386
phenotype
05/23/2014
63
194509
Sun2
0.000
R1767
G1
225
N
15
79725557
S694P
A
G
missense
Het
probably benign
0.000
0.158
phenotype
05/23/2014
64
194497
Tdp1
0.317
R1767
G1
225
N
12
99891343
G
A
unclassified
5 bp
Het
probably null
0.618
phenotype
05/23/2014
65
194500
Tfap2a
1.000
R1767
G1
225
N
13
40725137
I204N
A
T
missense
Het
probably damaging
1.000
0.088
phenotype
05/23/2014
66
194462
Tfip11
0.974
R1767
G1
225
N
5
112334432
W519R
T
A
missense
Het
probably damaging
0.999
0.536
phenotype
05/23/2014
67
194455
Tie1
1.000
R1767
G1
225
N
4
118476176
E831G
T
C
missense
Het
possibly damaging
0.866
0.258
phenotype
05/23/2014
68
194470
Tjp1
1.000
R1767
G1
225
N
7
65312553
A
G
critical splice donor site
2 bp
Het
probably null
phenotype
05/23/2014
69
194481
Tln2
0.407
R1767
G1
225
N
9
67286514
A1773T
C
T
missense
Het
probably benign
0.013
0.072
phenotype
05/23/2014
70
194458
Tmem39b
0.390
R1767
G1
225
N
4
129693183
I78M
A
C
missense
Het
possibly damaging
0.949
0.066
05/23/2014
71
194483
Trank1
0.000
R1767
G1
225
N
9
111391479
V2428A
T
C
missense
Het
probably benign
0.000
0.109
05/23/2014
72
194503
Trim35
0.087
R1767
G1
225
N
14
66304168
E247G
A
G
missense
Het
probably damaging
0.974
0.164
phenotype
05/23/2014
73
194504
Tsc22d1
0.329
R1767
G1
225
N
14
76418102
S674P
T
C
missense
Het
probably damaging
0.975
0.112
phenotype
05/23/2014
74
194437
Tsn
0.241
R1767
G1
225
N
1
118300888
D201E
A
T
missense
Het
probably damaging
0.996
0.066
phenotype
05/23/2014
75
194465
Usp42
0.469
R1767
G1
225
N
5
143714866
V1134E
A
T
missense
Het
possibly damaging
0.691
phenotype
05/23/2014
76
194472
Uvrag
0.939
R1767
G1
225
N
7
99099394
I117T
A
G
missense
Het
probably damaging
0.981
phenotype
05/23/2014
77
194499
Vmn1r192
0.179
R1767
G1
225
N
13
22187271
S260P
A
G
missense
Het
probably benign
0.079
0.119
05/23/2014
78
194519
Vmn2r110
0.118
R1767
G1
225
N
17
20580578
A531T
C
T
missense
Het
possibly damaging
0.830
05/23/2014
79
194441
Wdsub1
0.117
R1767
G1
225
N
2
59858714
I388N
A
T
missense
Het
probably damaging
0.999
05/23/2014
80
194510
Wnt10b
0.000
R1767
G1
225
N
15
98772675
L228Q
A
T
missense
Het
probably damaging
0.989
0.067
phenotype
05/23/2014
81
194439
Zbtb34
0.633
R1767
G1
225
N
2
33411336
S398A
A
C
missense
Het
possibly damaging
0.948
05/23/2014
[records 1 to 81 of 81]