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Incidental Mutations
44
incidental mutations are currently displayed, and affect
44
genes.
11
are Possibly Damaging.
13
are Probably Damaging.
18
are Probably Benign.
2
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 44 of 44]
10
25
50
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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
253260
Atmin
1.000
R2866
G1
225
N
8
116956373
D257E
T
A
missense
Het
probably benign
0.000
phenotype
12/04/2014
2
253295
Best1
0.000
R2866
G1
225
N
19
9986221
E532G
T
C
missense
Het
probably benign
0.000
phenotype
12/04/2014
3
253280
Cenpj
1.000
R2866
G1
225
N
14
56552180
H804R
T
C
missense
Het
probably benign
0.006
phenotype
12/04/2014
4
253236
Clec2g
0.058
R2866
G1
225
N
6
128948756
S43P
T
C
missense
Het
probably benign
0.000
12/04/2014
5
253220
Col8a2
0.466
R2866
G1
225
N
4
126311199
A
G
unclassified
Het
probably benign
phenotype
12/04/2014
6
253226
Cpz
0.386
R2866
G1
225
N
5
35502361
K647E
T
C
missense
Het
probably benign
0.095
0.133
phenotype
12/04/2014
7
476902
Csmd2
0.310
R2866
G1
225
N
4
128414392
T
C
critical splice donor site
2 bp
Het
probably null
05/15/2017
8
253216
Ctss
0.121
R2866
G1
225
N
3
95545406
K166R
A
G
missense
Het
probably benign
0.037
phenotype
12/04/2014
9
253301
Cyp2c23
0.126
R2866
G1
225
N
19
44005446
R494G
T
C
missense
Het
probably damaging
1.000
phenotype
12/04/2014
10
253299
Cyp2c68
0.000
R2866
G1
225
N
19
39689145
I467T
A
G
missense
Het
probably damaging
1.000
12/04/2014
11
253278
Dcaf11
0.517
R2866
G1
225
N
14
55565745
T299S
A
T
missense
Het
possibly damaging
0.924
phenotype
12/04/2014
12
253200
Dennd1b
0.146
R2866
G1
225
N
1
139170281
S762G
A
G
missense
Het
possibly damaging
0.579
phenotype
12/04/2014
13
253204
Epb42
0.000
R2866
G1
225
N
2
121025921
A381T
C
T
missense
Het
possibly damaging
0.925
phenotype
12/04/2014
14
253222
Fhad1
0.097
R2866
G1
225
N
4
141920788
Y256H
A
G
missense
Het
probably benign
0.001
12/04/2014
15
253305
Gfra1
1.000
R2866
G1
225
N
19
58239307
A395T
C
T
missense
Het
possibly damaging
0.933
phenotype
12/04/2014
16
253272
Gm10323
R2866
G1
225
N
13
66854510
C55F
C
A
missense
Het
probably benign
0.163
12/04/2014
17
253289
Gm9573
0.202
R2866
G1
225
N
17
35619707
T
C
intron
Het
probably benign
12/04/2014
18
253270
Greb1
0.819
R2866
G1
225
N
12
16699550
S1092G
T
C
missense
Het
probably damaging
1.000
phenotype
12/04/2014
19
253276
Grid1
0.137
R2866
G1
225
N
14
35562559
D753V
A
T
missense
Het
probably damaging
1.000
phenotype
12/04/2014
20
253238
Grin2b
1.000
R2866
G1
225
N
6
135733639
F970L
A
G
missense
Het
probably damaging
0.999
0.138
phenotype
12/04/2014
21
253274
Kcnma1
0.844
R2866
G1
225
N
14
23373207
N682K
A
T
missense
Het
probably benign
0.158
0.098
phenotype
12/04/2014
22
253232
Lat2
0.156
R2866
G1
225
N
5
134605944
D114V
T
A
missense
Het
probably damaging
0.990
phenotype
12/04/2014
23
253258
Lcat
0.216
R2866
G1
225
N
8
105939879
C337Y
C
T
missense
Het
probably damaging
0.978
phenotype
12/04/2014
24
253228
Mapk10
0.000
R2866
G1
225
N
5
103038682
D25N
C
T
missense
Het
probably benign
0.246
0.130
phenotype
12/04/2014
25
253218
Mroh7
0.000
R2866
G1
225
N
4
106691090
G1064R
C
T
missense
Het
probably damaging
0.998
12/04/2014
26
253202
Olfr1089
0.126
R2866
G1
225
N
2
86733429
F61Y
A
T
missense
Het
possibly damaging
0.953
phenotype
12/04/2014
27
253288
Olfr1564
0.071
R2866
G1
187
N
17
33216278
H22L
T
A
missense
Het
probably benign
0.221
phenotype
12/04/2014
28
253254
Olfr467
0.100
R2866
G1
225
N
7
107814919
C112S
T
A
missense
Het
probably benign
0.057
phenotype
12/04/2014
29
253250
Olfr615
0.034
R2866
G1
225
N
7
103560857
I127F
A
T
missense
Het
probably damaging
1.000
phenotype
12/04/2014
30
253244
Psg27
0.018
R2866
G1
225
N
7
18561893
D209V
T
A
missense
Het
probably benign
0.000
12/04/2014
31
253242
Ptgir
0.067
R2866
G1
184
N
7
16906869
M29V
A
G
missense
Het
possibly damaging
0.883
0.084
phenotype
12/04/2014
32
253234
Pzp
0.126
R2866
G1
224
N
6
128525264
S41P
A
G
missense
Het
possibly damaging
0.763
phenotype
12/04/2014
33
253198
Rab23
1.000
R2866
G1
206
N
1
33738295
K163N
A
T
missense
Het
possibly damaging
0.745
phenotype
12/04/2014
34
253230
Rilpl2
0.159
R2866
G1
225
N
5
124477835
D84G
T
C
missense
Het
probably damaging
0.988
phenotype
12/04/2014
35
253262
Sorl1
0.558
R2866
G1
225
N
9
41969781
I2148T
A
G
missense
Het
probably benign
0.000
phenotype
12/04/2014
36
253256
Tead1
1.000
R2866
G1
225
N
7
112759487
E2G
A
G
missense
Het
probably damaging
0.984
phenotype
12/04/2014
37
253212
Tigd4
0.301
R2866
G1
225
N
3
84593952
N59D
A
G
missense
Het
possibly damaging
0.479
0.136
phenotype
12/04/2014
38
253284
Tmprss15
0.679
R2866
G1
225
N
16
79035233
D345V
T
A
missense
Het
possibly damaging
0.650
phenotype
12/04/2014
39
253293
Togaram2
0.222
R2866
G1
225
N
17
71709597
S649P
T
C
missense
Het
probably benign
0.001
0.130
12/04/2014
40
253248
Ucp2
0.151
R2866
G1
225
N
7
100497252
V95A
T
C
missense
Het
probably benign
0.312
phenotype
12/04/2014
41
253252
Usp17lb
0.226
R2866
G1
225
N
7
104840748
D323G
T
C
missense
Het
probably damaging
1.000
12/04/2014
42
253286
Zfp677
0.206
R2866
G1
225
N
17
21397256
K192*
A
T
nonsense
Het
probably null
12/04/2014
43
253282
Zmym2
0.861
R2866
G1
225
N
14
56928248
I676K
T
A
missense
Het
probably damaging
0.997
phenotype
12/04/2014
44
253292
Znrd1as
0.079
R2866
G1
225
N
17
36965160
R211S
A
T
missense
Het
possibly damaging
0.910
12/04/2014
[records 1 to 44 of 44]