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Incidental Mutations
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Incidental Mutations
60
incidental mutations are currently displayed, and affect
60
genes.
10
are Possibly Damaging.
26
are Probably Damaging.
16
are Probably Benign.
7
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 60 of 60]
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
387015
4930522L14Rik
0.155
R5079
G1
225
Y
5
109737330
S221G
T
C
missense
Het
probably benign
0.000
0.129
06/06/2016
2
387041
Abca9
0.127
R5079
G1
225
Y
11
110145569
F571L
A
T
missense
Het
possibly damaging
0.471
0.036
phenotype
06/06/2016
3
387010
Agbl4
0.447
R5079
G1
225
Y
4
111566629
M284K
T
A
missense
Het
possibly damaging
0.911
0.138
phenotype
06/06/2016
4
386997
Ankrd16
0.187
R5079
G1
225
Y
2
11778899
D104G
A
G
missense
Het
probably damaging
1.000
0.022
06/06/2016
5
387036
Bpifc
0.112
R5079
G1
225
Y
10
85981304
D230G
T
C
missense
Het
probably damaging
1.000
0.308
06/06/2016
6
387039
Casc3
0.918
R5079
G1
225
Y
11
98810426
C
T
intron
Het
probably benign
0.054
phenotype
06/06/2016
7
387055
Catsperd
0.026
R5079
G1
225
Y
17
56658153
T
C
critical splice donor site
2 bp
Het
probably null
0.534
phenotype
06/06/2016
8
387027
Cpxm2
0.091
R5079
G1
225
Y
7
132154285
C
T
critical splice donor site
1 bp
Het
probably null
0.522
06/06/2016
9
387051
Crisp1
0.000
R5079
G1
225
Y
17
40308976
A
T
splice site
Het
probably null
0.636
phenotype
06/06/2016
10
387011
Crybg2
0.803
R5079
G1
225
Y
4
134074253
I908T
T
C
missense
Het
possibly damaging
0.826
0.061
06/06/2016
11
387014
Csn3
0.000
R5079
G1
225
Y
5
87929767
V44A
T
C
missense
Het
possibly damaging
0.922
0.055
phenotype
06/06/2016
12
387032
Dopey1
0.332
R5079
G1
194
Y
9
86487421
D102E
T
A
missense
Het
probably damaging
1.000
0.200
06/06/2016
13
387006
Etfdh
0.584
R5079
G1
225
Y
3
79618398
Y111C
T
C
missense
Het
probably damaging
1.000
0.624
phenotype
06/06/2016
14
387056
Fam69c
0.089
R5079
G1
225
Y
18
84730577
H100L
A
T
missense
Het
probably benign
0.169
0.054
phenotype
06/06/2016
15
387029
Fat3
0.481
R5079
G1
225
Y
9
15999127
S1860G
T
C
missense
Het
probably benign
0.008
0.088
phenotype
06/06/2016
16
387008
Gba2
0.491
R5079
G1
225
Y
4
43568640
G
T
unclassified
Het
probably benign
phenotype
06/06/2016
17
386999
Ggta1
0.000
R5079
G1
225
Y
2
35422237
I43T
A
G
missense
Het
possibly damaging
0.938
0.041
phenotype
06/06/2016
18
387030
Glb1l2
0.061
R5079
G1
225
Y
9
26771109
I149V
T
C
missense
Het
probably benign
0.000
0.130
phenotype
06/06/2016
19
387045
Gm5084
0.049
R5079
G1
225
Y
13
60212825
T
A
exon
Het
noncoding transcript
0.050
06/06/2016
20
387025
Gm5591
0.158
R5079
G1
130
Y
7
38522136
P170T
G
T
missense
Het
probably benign
0.006
0.136
06/06/2016
21
387022
Gm6614
0.088
R5079
G1
225
Y
6
141972347
I601R
A
C
missense
Het
probably benign
0.005
0.118
06/06/2016
22
387026
Gucy2d
0.050
R5079
G1
185
Y
7
98458268
A
T
critical splice acceptor site
Het
probably null
0.626
phenotype
06/06/2016
23
387050
Itpr3
0.000
R5079
G1
225
N
17
27098423
F851L
T
C
missense
Het
probably damaging
0.998
phenotype
06/06/2016
24
387053
Kat2b
0.000
R5079
G1
176
Y
17
53663638
I684N
T
A
missense
Het
probably damaging
0.999
0.298
phenotype
06/06/2016
25
387019
Klra17
0.030
R5079
G1
225
Y
6
129872196
K138N
C
A
missense
Het
possibly damaging
0.724
0.060
phenotype
06/06/2016
26
387016
Lrrc4
0.220
R5079
G1
225
Y
6
28830770
H282L
T
A
missense
Het
possibly damaging
0.692
0.184
phenotype
06/06/2016
27
387044
Lyst
0.385
R5079
G1
225
Y
13
13757353
I3522T
T
C
missense
Het
probably benign
0.075
0.126
phenotype
06/06/2016
28
387031
Man2c1
0.000
R5079
G1
225
Y
9
57136716
T312A
A
G
missense
Het
probably damaging
1.000
0.034
phenotype
06/06/2016
29
387003
Mapkbp1
0.394
R5079
G1
225
Y
2
120013733
R313G
A
G
missense
Het
probably damaging
0.986
0.063
06/06/2016
30
387013
N4bp2
0.165
R5079
G1
225
Y
5
65811977
G1361R
G
A
missense
Het
probably damaging
1.000
0.072
phenotype
06/06/2016
31
387042
Nbas
0.882
R5079
G1
225
Y
12
13374711
I984F
A
T
missense
Het
probably damaging
0.999
0.456
phenotype
06/06/2016
32
450625
Ncor1
1.000
R5079
G1
169
Y
11
62345237
Q579L
T
A
missense
Het
possibly damaging
0.922
0.332
phenotype
12/27/2016
33
387033
Nme9
0.107
R5079
G1
225
Y
9
99459702
Y35C
A
G
missense
Het
probably damaging
1.000
06/06/2016
34
387001
Olfr1136
0.074
R5079
G1
225
Y
2
87693208
V225F
C
A
missense
Het
probably damaging
0.991
0.272
phenotype
06/06/2016
35
386995
Ormdl1
0.111
R5079
G1
225
Y
1
53308934
V145A
T
C
missense
Het
probably damaging
0.999
0.340
06/06/2016
36
387049
Paxbp1
0.955
R5079
G1
225
Y
16
91025146
C
A
critical splice donor site
1 bp
Het
probably null
0.734
phenotype
06/06/2016
37
387043
Pcnx
0.000
R5079
G1
225
Y
12
81979089
S1530*
C
A
nonsense
Het
probably null
0.618
phenotype
06/06/2016
38
386996
Pogk
0.367
R5079
G1
225
Y
1
166399164
W473R
A
G
missense
Het
probably damaging
0.999
0.392
phenotype
06/06/2016
39
387054
Pot1b
0.000
R5079
G1
225
Y
17
55669801
S374T
A
T
missense
Het
probably benign
0.177
0.032
phenotype
06/06/2016
40
387002
Rcn1
0.204
R5079
G1
142
Y
2
105399057
F50S
A
G
missense
Het
probably damaging
0.965
0.192
phenotype
06/06/2016
41
387038
Rcvrn
0.000
R5079
G1
225
Y
11
67702941
I186N
T
A
missense
Het
probably damaging
1.000
0.368
phenotype
06/06/2016
42
387040
Rnd2
0.175
R5079
G1
225
Y
11
101468999
L57F
C
T
missense
Het
probably damaging
1.000
0.218
phenotype
06/06/2016
43
387009
Ror1
1.000
R5079
G1
225
Y
4
100441422
I664N
T
A
missense
Het
probably damaging
1.000
0.492
phenotype
06/06/2016
44
387048
Sall2
0.000
R5079
G1
225
Y
14
52314754
A326E
G
T
missense
Het
probably damaging
1.000
0.074
phenotype
06/06/2016
45
387017
Sh2d6
0.041
R5079
G1
225
Y
6
72519850
P66S
G
A
missense
Het
probably benign
0.020
0.100
06/06/2016
46
387034
Slc6a20b
0.166
R5079
G1
225
Y
9
123598498
S449C
T
A
missense
Het
probably damaging
1.000
0.162
06/06/2016
47
387046
Slc9a3
0.000
R5079
G1
225
Y
13
74164287
N668Y
A
T
missense
Het
probably damaging
0.972
0.050
phenotype
06/06/2016
48
387012
Sorcs2
0.167
R5079
G1
225
Y
5
36043452
K584T
T
G
missense
Het
probably damaging
1.000
0.142
phenotype
06/06/2016
49
386998
Stam
0.309
R5079
G1
225
Y
2
14074539
M8T
T
C
missense
Het
probably benign
0.000
0.069
phenotype
06/06/2016
50
387020
Styk1
0.138
R5079
G1
225
Y
6
131301713
P333S
G
A
missense
Het
probably damaging
1.000
0.452
phenotype
06/06/2016
51
387007
Sycp1
0.212
R5079
G1
225
Y
3
102878800
C589R
A
G
missense
Het
possibly damaging
0.666
0.090
phenotype
06/06/2016
52
387021
Tas2r123
0.031
R5079
G1
225
Y
6
132847718
I193V
A
G
missense
Het
probably benign
0.011
0.158
06/06/2016
53
387000
Tnks1bp1
0.292
R5079
G1
225
Y
2
85062626
Q304K
C
A
missense
Het
probably damaging
0.999
0.252
06/06/2016
54
387035
Traf3ip2
0.128
R5079
G1
197
Y
10
39626477
L207P
T
C
missense
Het
probably damaging
1.000
0.288
phenotype
06/06/2016
55
387052
Usp49
0.307
R5079
G1
225
Y
17
47673221
S384G
A
G
missense
Het
possibly damaging
0.775
0.084
06/06/2016
56
387037
Vezt
1.000
R5079
G1
225
Y
10
94020624
T
C
splice site
4 bp
Het
probably null
0.630
phenotype
06/06/2016
57
387024
Vmn1r87
0.052
R5079
G1
225
Y
7
13132326
M11I
C
A
missense
Het
probably benign
0.010
0.116
06/06/2016
58
387023
Vmn2r39
0.081
R5079
G1
201
N
7
9023490
V504A
A
G
missense
Het
probably benign
0.053
06/06/2016
59
387047
Wapl
1.000
R5079
G1
225
Y
14
34724757
A607T
G
A
missense
Het
probably damaging
0.998
0.342
phenotype
06/06/2016
60
387018
Zfp638
0.647
R5079
G1
225
Y
6
83929456
N201S
A
G
missense
Het
probably benign
0.031
0.128
phenotype
06/06/2016
[records 1 to 60 of 60]