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Incidental Mutations
43
incidental mutations are currently displayed, and affect
43
genes.
6
are Possibly Damaging.
13
are Probably Damaging.
17
are Probably Benign.
5
are Probably Null.
2
create premature stop codons.
3
are critical splice junction mutations.
Mutations in Coding Regions/Splice Sites Identified by Next-Gen Sequencing
[records 1 to 43 of 43]
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
ABI
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
45299
3632451O06Rik
0.000
R0553
G1
225
Y
14
49682686 (GRCm38)
I729V
T
C
missense
Het
probably damaging
0.989
0.175
2013-06-11
2
45273
9530002B09Rik
0.068
R0553
G1
225
Y
4
122702335 (GRCm38)
M120L
A
T
missense
Het
unknown
0.087
2013-06-11
3
45267
Adamts13
0.139
R0553
G1
164
Y
2
26991334 (GRCm38)
C774*
T
A
nonsense
Het
probably null
0.976
phenotype
2013-06-11
4
45291
Amh
0.246
R0553
G1
201
Y
10
80806176 (GRCm38)
A
G
unclassified
Het
probably benign
phenotype
2013-06-11
5
45269
Ccdc173
0.069
R0553
G1
139
Y
2
69789441 (GRCm38)
R8L
C
A
missense
Het
probably damaging
0.999
0.259
2013-06-11
6
45271
Cd40
0.000
R0553
G1
225
Y
2
165070741 (GRCm38)
R204Q
G
A
missense
Het
probably benign
0.008
0.090
phenotype
2013-06-11
7
45293
Clhc1
0.057
R0553
G1
225
Y
11
29561366 (GRCm38)
A
C
splice site
Het
probably benign
2013-06-11
8
45307
Fbxl17
0.834
R0553
G1
225
Y
17
63356851 (GRCm38)
R67C
G
A
missense
Het
probably damaging
0.999
0.430
phenotype
2013-06-11
9
45272
Flg2
0.082
R0553
G1
225
Y
3
93203584 (GRCm38)
H973L
A
T
missense
Het
unknown
0.087
2013-06-11
10
45284
Fut2
0.000
R0553
G1
225
Y
7
45651274 (GRCm38)
I25F
T
A
missense
Het
probably damaging
0.999
0.647
phenotype
2013-06-11
11
45286
Galnt7
0.732
R0553
G1
224
Y
8
57552430 (GRCm38)
T
C
splice site
Het
probably benign
phenotype
2013-06-11
12
45276
Gm438
0.050
R0553
G1
225
Y
4
144777415 (GRCm38)
I389L
T
A
missense
Het
possibly damaging
0.566
0.170
2013-06-11
13
45274
Gm7534
0.059
R0553
G1
225
Y
4
134202518 (GRCm38)
T159A
T
C
missense
Het
possibly damaging
0.853
0.179
2013-06-11
14
45305
Gm8909
0.058
R0553
G1
225
Y
17
36168057 (GRCm38)
P100Q
G
T
missense
Het
probably damaging
1.000
0.640
2013-06-11
15
45288
Gmppb
0.960
R0553
G1
225
Y
9
108049797 (GRCm38)
M56L
A
T
missense
Het
probably benign
0.019
0.126
phenotype
2013-06-11
16
45277
Grm3
0.000
R0553
G1
225
Y
5
9570048 (GRCm38)
A399S
C
A
missense
Het
probably benign
0.163
0.510
phenotype
2013-06-11
17
45289
Hey2
0.885
R0553
G1
225
Y
10
30840489 (GRCm38)
G
A
splice site
Het
probably benign
phenotype
2013-06-11
18
45279
Ift172
1.000
R0553
G1
167
Y
5
31275842 (GRCm38)
A
G
splice site
Het
probably benign
phenotype
2013-06-11
19
45296
Kcnh5
0.000
R0553
G1
83
N
12
75137673 (GRCm38)
C92F
C
A
missense
Het
probably benign
0.001
phenotype
2013-06-11
20
45275
Kdm1a
1.000
R0553
G1
225
Y
4
136555298 (GRCm38)
D229G
T
C
missense
Het
probably damaging
1.000
0.443
phenotype
2013-06-11
21
45295
Klf11
0.000
R0553
G1
181
Y
12
24655090 (GRCm38)
P164R
C
G
missense
Het
probably benign
0.117
0.090
phenotype
2013-06-11
22
45268
Klhl41
0.076
R0553
G1
225
Y
2
69670210 (GRCm38)
R5Q
G
A
missense
Het
probably benign
0.041
0.058
phenotype
2013-06-11
23
45278
Krtcap3
0.105
R0553
G1
158
Y
5
31251803 (GRCm38)
V6A
T
C
missense
Het
probably benign
0.000
0.090
2013-06-11
24
45281
Ltbr
0.233
R0553
G1
130
Y
6
125313388 (GRCm38)
A
C
critical splice donor site
2 bp
Het
probably null
0.950
phenotype
2013-06-11
25
45280
Mmp17
0.075
R0553
G1
211
Y
5
129598670 (GRCm38)
S298A
T
G
missense
Het
probably benign
0.304
0.141
phenotype
2013-06-11
26
45266
Nacc2
0.000
R0553
G1
225
Y
2
26089590 (GRCm38)
E278V
T
A
missense
Het
possibly damaging
0.754
0.124
2013-06-11
27
45301
Olfr175-ps1
0.089
R0553
G1
225
Y
16
58824155 (GRCm38)
Y185N
A
T
missense
Het
probably damaging
0.990
0.462
phenotype
2013-06-11
28
45287
Olfr875
0.093
R0553
G1
225
Y
9
37773331 (GRCm38)
I224N
T
A
missense
Het
probably benign
0.047
0.584
phenotype
2013-06-11
29
45294
Otop2
0.000
R0553
G1
225
Y
11
115329462 (GRCm38)
A376V
C
T
missense
Het
probably damaging
0.983
0.376
2013-06-11
30
45302
Pdia2
0.153
R0553
G1
225
Y
17
26196243 (GRCm38)
E504G
T
C
missense
Het
probably damaging
0.984
0.093
phenotype
2013-06-11
31
45306
Pdzph1
0.095
R0553
G1
225
Y
17
58922727 (GRCm38)
V979M
C
T
missense
Het
probably damaging
0.999
0.647
2013-06-11
32
45304
Pou5f1
1.000
R0553
G1
225
Y
17
35509477 (GRCm38)
K86R
A
G
missense
Het
possibly damaging
0.761
0.517
phenotype
2013-06-11
33
45292
Ptprq
0.252
R0553
G1
225
Y
10
107710627 (GRCm38)
F269L
A
G
missense
Het
probably benign
0.334
0.065
phenotype
2013-06-11
34
45300
Rb1
1.000
R0553
G1
225
Y
14
73211712 (GRCm38)
C659*
A
T
nonsense
Het
probably null
0.976
phenotype
2013-06-11
35
45303
Rnf8
0.957
R0553
G1
225
Y
17
29621639 (GRCm38)
T
C
critical splice donor site
2 bp
Het
probably null
0.950
phenotype
2013-06-11
36
45283
Rras
0.000
R0553
G1
225
Y
7
45020556 (GRCm38)
I137M
T
G
missense
Het
probably benign
0.001
0.090
phenotype
2013-06-11
37
45298
Slc38a9
0.243
R0553
G1
225
Y
13
112714198 (GRCm38)
H372L
A
T
missense
Het
probably damaging
1.000
0.941
2013-06-11
38
45297
Spata9
0.062
R0553
G1
225
Y
13
75977779 (GRCm38)
T
C
critical splice donor site
2 bp
Het
probably null
0.948
2013-06-11
39
45282
Tas2r115
0.050
R0553
G1
225
Y
6
132737959 (GRCm38)
T10A
T
C
missense
Het
probably benign
0.184
0.258
2013-06-11
40
45270
Ttn
1.000
R0553
G1
225
Y
2
76798893 (GRCm38)
E12621G
T
C
missense
Het
probably damaging
0.994
0.278
phenotype
2013-06-11
41
45265
Unc80
0.925
R0553
G1
210
Y
1
66506669 (GRCm38)
I460F
A
T
missense
Het
probably damaging
0.969
0.111
phenotype
2013-06-11
42
45285
Wdr17
0.000
R0553
G1
225
Y
8
54693096 (GRCm38)
A90T
C
T
missense
Het
possibly damaging
0.845
0.061
phenotype
2013-06-11
43
45290
Zbtb24
1.000
R0553
G1
225
Y
10
41451997 (GRCm38)
A293V
C
T
missense
Het
possibly damaging
0.783
0.160
phenotype
2013-06-11
[records 1 to 43 of 43]