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Incidental Mutations
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Incidental Mutations
78
incidental mutations are currently displayed, and affect
78
genes.
10
are Possibly Damaging.
27
are Probably Damaging.
30
are Probably Benign.
9
are Probably Null.
4
create premature stop codons.
3
are critical splice junction mutations.
Mutations in Coding Regions/Splice Sites Identified by Next-Gen Sequencing
[records 1 to 78 of 78]
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
541534
2210016F16Rik
0.097
R6957
G1
225.01
N
13
58381961
C279F
C
A
missense
Het
probably damaging
1.000
11/28/2018
2
541485
2310009B15Rik
0.054
R6957
G1
225.01
N
1
138852119
S132P
A
G
missense
Het
probably damaging
1.000
11/28/2018
3
541523
4932415D10Rik
0.148
R6957
G1
225.01
N
10
82293786
I1130K
A
T
missense
Het
probably benign
0.026
11/28/2018
4
541531
Abcb5
0.235
R6957
G1
225.01
N
12
118907535
F710L
A
G
missense
Het
probably damaging
0.999
phenotype
11/28/2018
5
541511
Acsm4
0.095
R6957
G1
225.01
N
7
119711399
V503G
T
G
missense
Het
probably damaging
0.999
11/28/2018
6
541513
Adam26a
0.059
R6957
G1
225.01
N
8
43568903
M517L
T
A
missense
Het
probably benign
0.003
phenotype
11/28/2018
7
541486
Adcy10
0.228
R6957
G1
225.01
N
1
165564285
L1345I
C
A
missense
Het
probably damaging
1.000
phenotype
11/28/2018
8
541535
Adgrv1
0.000
R6957
G1
225.01
N
13
81567490
I860V
T
C
missense
Het
probably benign
0.002
phenotype
11/28/2018
9
541550
Alcam
0.221
R6957
G1
225.01
N
16
52276894
D333G
T
C
missense
Het
probably damaging
1.000
phenotype
11/28/2018
10
541521
Amt
1.000
R6957
G1
225.01
N
9
108299833
F213L
C
A
missense
Het
possibly damaging
0.511
phenotype
11/28/2018
11
541522
Ascc3
0.968
R6957
G1
225.01
N
10
50728182
T1333A
A
G
missense
Het
probably damaging
1.000
phenotype
11/28/2018
12
541556
Asxl3
0.540
R6957
G1
225.01
N
18
22522091
L1053I
C
A
missense
Het
probably damaging
1.000
11/28/2018
13
541545
Atxn10
1.000
R6957
G1
225.01
N
15
85336498
S12P
T
C
missense
Het
probably damaging
0.997
phenotype
11/28/2018
14
541548
AU021092
0.083
R6957
G1
225.01
N
16
5212153
I333V
T
C
missense
Het
probably benign
0.034
phenotype
11/28/2018
15
541554
Birc6
1.000
R6957
G1
225.01
N
17
74579491
I577V
A
G
missense
Het
probably benign
0.000
phenotype
11/28/2018
16
541552
Cadm2
0.352
R6957
G1
225.01
N
16
66812838
F132I
A
T
missense
Het
probably benign
0.019
phenotype
11/28/2018
17
541514
Casp3
1.000
R6957
G1
225.01
N
8
46634273
V85D
T
A
missense
Het
probably damaging
1.000
phenotype
11/28/2018
18
541526
Ccdc85a
0.276
R6957
G1
225.01
N
11
28392944
A
T
intron
Het
probably benign
11/28/2018
19
541509
Cd22
0.000
R6957
G1
225.01
N
7
30867574
R760G
T
C
missense
Het
possibly damaging
0.880
phenotype
11/28/2018
20
541499
Cela3a
0.088
R6957
G1
225.01
N
4
137408130
W41R
A
T
missense
Het
probably damaging
1.000
phenotype
11/28/2018
21
541519
Cep164
0.459
R6957
G1
225.01
N
9
45772280
A
G
critical splice donor site
2 bp
Het
probably null
phenotype
11/28/2018
22
541484
Cntnap5b
0.075
R6957
G1
225.01
N
1
100274472
E348G
A
G
missense
Het
probably benign
0.080
11/28/2018
23
541495
Ddx20
1.000
R6957
G1
225.01
N
3
105684310
K181N
C
A
missense
Het
probably benign
0.303
phenotype
11/28/2018
24
541487
Dnah14
0.075
R6957
G1
225.01
N
1
181785175
A3846P
G
C
missense
Het
possibly damaging
0.918
phenotype
11/28/2018
25
541528
Ern1
1.000
R6957
G1
225.01
N
11
106403539
I813S
A
C
missense
Het
probably damaging
0.999
phenotype
11/28/2018
26
541529
Fam181a
0.239
R6957
G1
225.01
N
12
103316514
G226D
G
A
missense
Het
probably damaging
0.969
11/28/2018
27
541546
Fam186a
0.147
R6957
G1
225.01
N
15
99946476
D629V
T
A
missense
Het
unknown
11/28/2018
28
541542
Fam84b
0.125
R6957
G1
170.01
N
15
60823085
T271A
T
C
missense
Het
probably benign
0.000
11/28/2018
29
541508
Gipr
0.180
R6957
G1
225.01
N
7
19164604
T26S
T
A
missense
Het
probably benign
0.015
phenotype
11/28/2018
30
541536
Gm3159
0.070
R6957
G1
185.01
N
14
4398530
R74G
A
G
missense
Het
possibly damaging
0.944
11/28/2018
31
541483
Gm8251
0.170
R6957
G1
225.01
N
1
44057207
C1577Y
C
T
missense
Het
probably benign
0.003
11/28/2018
32
541555
Greb1l
0.616
R6957
G1
225.01
N
18
10558786
V1814I
G
A
missense
Het
probably benign
0.227
11/28/2018
33
541488
Hacd1
0.319
R6957
G1
225.01
N
2
14044853
V98E
A
T
missense
Het
probably damaging
1.000
phenotype
11/28/2018
34
541533
Iars
1.000
R6957
G1
225.01
N
13
49722161
F775V
T
G
missense
Het
probably damaging
0.998
phenotype
11/28/2018
35
541505
Il12rb2
0.000
R6957
G1
225.01
N
6
67292652
L726F
G
A
missense
Het
possibly damaging
0.600
phenotype
11/28/2018
36
541538
Itih4
0.000
R6957
G1
225.01
N
14
30892603
V474A
T
C
missense
Het
probably damaging
1.000
phenotype
11/28/2018
37
541518
Kmt2a
1.000
R6957
G1
225.01
N
9
44820022
A
C
unclassified
Het
probably benign
phenotype
11/28/2018
38
541540
Ktn1
0.000
R6957
G1
225.01
N
14
47667353
L196*
T
A
nonsense
Het
probably null
phenotype
11/28/2018
39
541559
Lipo4
0.111
R6957
G1
225.01
N
19
33499367
V327A
A
G
missense
Het
probably benign
0.298
11/28/2018
40
541539
Lrit1
0.118
R6957
G1
225.01
N
14
37060095
V242L
G
C
missense
Het
probably damaging
0.992
phenotype
11/28/2018
41
541492
Lrp4
0.620
R6957
G1
225.01
N
2
91487042
T837K
C
A
missense
Het
probably damaging
0.994
phenotype
11/28/2018
42
541504
Mad1l1
1.000
R6957
G1
225.01
N
5
140065817
F664L
G
T
missense
Het
probably damaging
0.989
phenotype
11/28/2018
43
541498
Mecr
0.609
R6957
G1
225.01
N
4
131861861
T247A
A
G
missense
Het
probably benign
0.001
11/28/2018
44
541503
Msi1
0.423
R6957
G1
225.01
N
5
115445424
A228T
G
A
missense
Het
probably benign
0.037
phenotype
11/28/2018
45
541497
Mup5
0.118
R6957
G1
225.01
N
4
61833036
N125I
T
A
missense
Het
probably damaging
1.000
11/28/2018
46
541493
Mybl2
1.000
R6957
G1
190.01
N
2
163072808
S282F
C
T
missense
Het
possibly damaging
0.858
phenotype
11/28/2018
47
541512
Myom2
0.222
R6957
G1
225.01
N
8
15117741
A1109T
G
A
missense
Het
probably null
0.420
phenotype
11/28/2018
48
541541
Nalcn
1.000
R6957
G1
225.01
N
14
123507554
D354G
T
C
missense
Het
probably damaging
0.958
phenotype
11/28/2018
49
541547
Nckap1l
0.662
R6957
G1
225.01
N
15
103491511
V1040A
T
C
missense
Het
possibly damaging
0.910
phenotype
11/28/2018
50
541506
Nlrp12
0.088
R6957
G1
225.01
N
7
3222486
D1051V
T
A
missense
Het
probably damaging
0.995
phenotype
11/28/2018
51
541516
Nudt7
0.055
R6957
G1
225.01
N
8
114133645
K16R
A
G
missense
Het
probably benign
0.026
phenotype
11/28/2018
52
541491
Olfr1270
0.116
R6957
G1
225.01
N
2
90149150
Y285*
G
T
nonsense
Het
probably null
phenotype
11/28/2018
53
541517
Olfr947-ps1
R6957
G1
225.01
N
9
39289281
V203A
A
G
missense
Het
unknown
11/28/2018
54
541501
Paqr3
0.171
R6957
G1
225.01
N
5
97108251
I88K
A
T
missense
Het
possibly damaging
0.478
phenotype
11/28/2018
55
541549
Parp9
0.197
R6957
G1
225.01
N
16
35948346
M299V
A
G
missense
Het
probably benign
0.004
11/28/2018
56
541494
Pde4dip
1.000
R6957
G1
225.01
N
3
97824333
A
T
splice site
Het
probably null
phenotype
11/28/2018
57
541525
Pex13
1.000
R6957
G1
225.01
N
11
23655628
M201L
T
G
missense
Het
probably benign
0.000
phenotype
11/28/2018
58
541527
Pfas
1.000
R6957
G1
225.01
N
11
68993883
V498L
C
A
missense
Het
probably benign
0.138
phenotype
11/28/2018
59
541560
Phka2
0.183
R6957
G1
222
N
X
160533048
V230I
G
A
missense
Het
probably damaging
0.992
phenotype
11/28/2018
60
541543
Plec
0.862
R6957
G1
225.01
N
15
76186214
D932V
T
A
missense
Het
probably damaging
1.000
phenotype
11/28/2018
61
541489
Qsox2
0.102
R6957
G1
225.01
N
2
26217642
A445T
C
T
missense
Het
probably benign
0.401
phenotype
11/28/2018
62
541490
Rapgef1
1.000
R6957
G1
225.01
N
2
29733698
Q820K
C
A
missense
Het
possibly damaging
0.615
phenotype
11/28/2018
63
541496
Samd13
0.160
R6957
G1
225.01
N
3
146662669
A
G
critical splice donor site
2 bp
Het
probably null
11/28/2018
64
541544
Samm50
0.936
R6957
G1
225.01
N
15
84198649
D104Y
G
T
missense
Het
probably damaging
1.000
phenotype
11/28/2018
65
541507
Sbk3
0.109
R6957
G1
225.01
N
7
4967523
F282L
A
T
missense
Het
probably benign
0.000
11/28/2018
66
541537
Sfmbt1
0.364
R6957
G1
225.01
N
14
30787589
H342Y
C
T
missense
Het
probably benign
0.002
phenotype
11/28/2018
67
541515
Sgo2b
0.180
R6957
G1
120.47
N
8
63931455
CCATCATCATCATCATCATCAT
CCATCATCATCATCATCAT
small deletion
Het
probably benign
11/28/2018
68
541557
Slc12a2
0.000
R6957
G1
225.01
N
18
57910272
L596*
T
A
nonsense
Het
probably null
phenotype
11/28/2018
69
541558
St8sia3
0.256
R6957
G1
225.01
N
18
64271782
S377P
T
C
missense
Het
probably benign
0.252
phenotype
11/28/2018
70
541532
Stmnd1
0.140
R6957
G1
225.01
N
13
46273899
S28A
T
G
missense
Het
probably benign
0.090
11/28/2018
71
541530
Syne3
0.113
R6957
G1
225.01
N
12
104954302
L458Q
A
T
missense
Het
probably damaging
0.998
11/28/2018
72
541510
Synm
0.207
R6957
G1
225.01
N
7
67736100
V163I
C
T
missense
Het
probably benign
0.278
phenotype
11/28/2018
73
541551
Tbc1d23
0.666
R6957
G1
225.01
N
16
57208323
C161R
A
G
missense
Het
probably damaging
1.000
phenotype
11/28/2018
74
541500
Tnfrsf4
0.025
R6957
G1
225.01
N
4
156016168
V215I
G
A
missense
Het
probably benign
0.001
phenotype
11/28/2018
75
541553
Vars2
0.958
R6957
G1
225.01
N
17
35667075
K67Q
T
G
missense
Het
probably benign
0.391
phenotype
11/28/2018
76
541502
Vmn2r13
0.139
R6957
G1
225.01
N
5
109156887
Y559*
A
T
nonsense
Het
probably null
11/28/2018
77
541524
Wdpcp
0.389
R6957
G1
225.01
N
11
21721154
I465T
T
C
missense
Het
possibly damaging
0.941
phenotype
11/28/2018
78
541520
Zwilch
0.591
R6957
G1
225.01
N
9
64162562
A
C
critical splice donor site
2 bp
Het
probably null
11/28/2018
[records 1 to 78 of 78]