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Incidental Mutations
78
incidental mutations are currently displayed, and affect
78
genes.
14
are Possibly Damaging.
28
are Probably Damaging.
26
are Probably Benign.
10
are Probably Null.
5
create premature stop codons.
1
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
160759
Actl6b
0.748
R1438
G1
221
Y
5
137554609
I67F
A
T
missense
Het
probably damaging
0.994
0.467
phenotype
03/14/2014
2
160774
Adam24
0.081
R1438
G1
225
Y
8
40681392
N633I
A
T
missense
Het
probably benign
0.187
0.090
phenotype
03/14/2014
3
160781
Adgrg6
1.000
R1438
G1
225
Y
10
14468841
S123G
T
C
missense
Het
possibly damaging
0.684
0.083
phenotype
03/14/2014
4
160812
Afdn
1.000
R1438
G1
225
Y
17
13855390
F940L
T
A
missense
Het
probably damaging
1.000
0.376
phenotype
03/14/2014
5
160804
Ahrr
0.000
R1438
G1
225
Y
13
74224868
Y26*
A
T
nonsense
Het
probably null
0.976
phenotype
03/14/2014
6
160794
Akap1
0.000
R1438
G1
225
Y
11
88844751
G362*
C
A
nonsense
Het
probably null
0.976
phenotype
03/14/2014
7
160743
Aox3
0.000
R1438
G1
225
Y
1
58153178
T536S
A
T
missense
Het
probably benign
0.000
0.090
03/14/2014
8
160777
AU019823
0.715
R1438
G1
225
Y
9
50607672
K213N
C
A
missense
Het
possibly damaging
0.719
0.089
03/14/2014
9
160811
Boc
0.000
R1438
G1
225
Y
16
44488746
A
T
splice site
Het
probably null
0.976
phenotype
03/14/2014
10
160814
Cchcr1
0.379
R1438
G1
177
Y
17
35530560
T
C
critical splice donor site
2 bp
Het
probably null
0.958
03/14/2014
11
160786
Cct2
0.959
R1438
G1
225
Y
10
117054992
A
T
unclassified
Het
probably benign
0.090
phenotype
03/14/2014
12
160746
Cd84
0.000
R1438
G1
225
Y
1
171852118
Y121F
A
T
missense
Het
probably damaging
0.998
0.463
phenotype
03/14/2014
13
160764
Cecr2
1.000
R1438
G1
225
Y
6
120761472
C275*
T
A
nonsense
Het
probably null
0.964
phenotype
03/14/2014
14
160763
Chchd3
1.000
R1438
G1
225
Y
6
33008568
C
A
splice site
Het
probably benign
0.090
phenotype
03/14/2014
15
160805
Ckmt2
0.247
R1438
G1
225
Y
13
91859852
A
T
splice site
Het
probably benign
phenotype
03/14/2014
16
160776
Col5a3
0.557
R1438
G1
225
Y
9
20779957
K1131E
T
C
missense
Het
probably damaging
0.989
0.158
phenotype
03/14/2014
17
160802
Dek
0.755
R1438
G1
225
Y
13
47088171
S306T
A
T
missense
Het
probably benign
0.226
0.090
phenotype
03/14/2014
18
160773
Dhx32
0.110
R1438
G1
225
Y
7
133737340
E322G
T
C
missense
Het
possibly damaging
0.870
0.130
phenotype
03/14/2014
19
160806
Dlg5
1.000
R1438
G1
225
Y
14
24154605
D941V
T
A
missense
Het
possibly damaging
0.945
0.179
phenotype
03/14/2014
20
160758
Dnah10
0.155
R1438
G1
225
Y
5
124798945
N2559S
A
G
missense
Het
probably benign
0.250
0.090
phenotype
03/14/2014
21
160808
Dnajc3
0.266
R1438
G1
225
Y
14
118968106
T171A
A
G
missense
Het
probably benign
0.000
0.075
phenotype
03/14/2014
22
160795
Eftud2
1.000
R1438
G1
225
Y
11
102860042
F308L
G
T
missense
Het
probably damaging
1.000
0.959
phenotype
03/14/2014
23
160780
Elp6
0.863
R1438
G1
225
Y
9
110314055
F95S
T
C
missense
Het
probably damaging
1.000
0.854
03/14/2014
24
160771
Emsy
0.533
R1438
G1
225
Y
7
98621406
V450I
C
T
missense
Het
possibly damaging
0.875
0.163
03/14/2014
25
160803
Exoc3
0.964
R1438
G1
159
Y
13
74190179
M362K
A
T
missense
Het
probably damaging
0.998
0.888
phenotype
03/14/2014
26
160789
Fat2
0.000
R1438
G1
225
Y
11
55287811
D1474E
A
T
missense
Het
probably damaging
1.000
0.913
phenotype
03/14/2014
27
160767
Fcgbp
0.000
R1438
G1
225
Y
7
28103733
C1587*
T
A
nonsense
Het
probably null
0.976
03/14/2014
28
160753
Fosl2
1.000
R1438
G1
181
Y
5
32146985
L88Q
T
A
missense
Het
probably damaging
0.998
0.062
phenotype
03/14/2014
29
160769
Fsd2
0.000
R1438
G1
225
Y
7
81548873
D381G
T
C
missense
Het
probably benign
0.129
0.157
phenotype
03/14/2014
30
254672
Golim4
0.428
R1438
G1
57
Y
3
75956133
S56A
A
C
missense
Het
probably damaging
0.994
0.078
phenotype
12/05/2014
31
160745
Gpr39
0.000
R1438
G1
225
Y
1
125872356
T
C
utr 3 prime
Het
probably benign
phenotype
03/14/2014
32
160807
Gucy1b2
0.177
R1438
G1
225
Y
14
62414321
I409V
T
C
missense
Het
probably damaging
0.983
0.647
phenotype
03/14/2014
33
160801
Hivep1
0.713
R1438
G1
225
Y
13
42158120
T1279A
A
G
missense
Het
probably benign
0.002
0.058
phenotype
03/14/2014
34
160817
Ifit1bl2
0.000
R1438
G1
225
Y
19
34619169
Q349L
T
A
missense
Het
possibly damaging
0.700
0.179
03/14/2014
35
160768
Kcnc1
0.236
R1438
G1
225
Y
7
46428267
I498F
A
T
missense
Het
possibly damaging
0.807
0.081
phenotype
03/14/2014
36
160770
Kctd21
0.117
R1438
G1
225
Y
7
97347497
I59N
T
A
missense
Het
probably damaging
0.982
0.963
03/14/2014
37
254671
Lama5
1.000
R1438
G1
78
Y
2
180182800
T2577S
T
A
missense
Het
probably benign
0.006
0.090
phenotype
12/05/2014
38
160791
Mief2
0.322
R1438
G1
225
Y
11
60730314
R9M
G
T
missense
Het
possibly damaging
0.905
0.179
phenotype
03/14/2014
39
160775
Mmp3
0.096
R1438
G1
225
Y
9
7453705
V442A
T
C
missense
Het
probably benign
0.216
0.185
phenotype
03/14/2014
40
160799
Nrxn3
0.000
R1438
G1
225
Y
12
90332135
R477W
C
T
missense
Het
probably damaging
0.998
0.087
phenotype
03/14/2014
41
160748
Olfr1126
0.121
R1438
G1
225
Y
2
87457992
T276A
A
G
missense
Het
probably benign
0.004
0.090
phenotype
03/14/2014
42
160783
Olfr57
0.090
R1438
G1
225
Y
10
79035288
V164E
T
A
missense
Het
possibly damaging
0.881
0.446
phenotype
03/14/2014
43
160747
Parp1
0.609
R1438
G1
225
Y
1
180591242
T656A
A
G
missense
Het
probably benign
0.076
0.058
phenotype
03/14/2014
44
160815
Pcdhb19
0.064
R1438
G1
225
Y
18
37497962
D270G
A
G
missense
Het
probably damaging
1.000
0.878
phenotype
03/14/2014
45
160744
Phlpp1
0.141
R1438
G1
225
Y
1
106173412
D470G
A
G
missense
Het
possibly damaging
0.526
0.116
phenotype
03/14/2014
46
160782
Prdm1
1.000
R1438
G1
225
Y
10
44442128
E248G
T
C
missense
Het
probably benign
0.002
0.073
phenotype
03/14/2014
47
160778
Prtg
0.775
R1438
G1
225
Y
9
72910750
C
T
splice site
Het
probably benign
phenotype
03/14/2014
48
160750
Ptpn1
0.920
R1438
G1
225
Y
2
167976609
Y424H
T
C
missense
Het
probably damaging
0.994
0.479
phenotype
03/14/2014
49
160785
Ptprr
0.320
R1438
G1
225
Y
10
116256204
V369A
T
C
missense
Het
probably damaging
0.975
0.676
phenotype
03/14/2014
50
160790
Rai1
1.000
R1438
G1
101
Y
11
60185395
V95G
T
G
missense
Het
probably benign
0.001
0.127
phenotype
03/14/2014
51
160813
Rasal3
0.077
R1438
G1
225
Y
17
32393535
T
A
unclassified
Het
probably null
0.219
phenotype
03/14/2014
52
160757
Rbm19
1.000
R1438
G1
142
Y
5
120122896
E195G
A
G
missense
Het
probably benign
0.007
0.069
phenotype
03/14/2014
53
160788
Rhbdd3
0.077
R1438
G1
225
Y
11
5103332
L44Q
T
A
missense
Het
probably damaging
1.000
0.647
phenotype
03/14/2014
54
160779
Ripply2
1.000
R1438
G1
225
Y
9
87019660
W80R
T
C
missense
Het
probably damaging
1.000
0.820
phenotype
03/14/2014
55
160751
Rnf183
0.000
R1438
G1
213
Y
4
62428523
C13R
A
G
missense
Het
probably damaging
1.000
0.961
03/14/2014
56
160816
Rorb
0.000
R1438
G1
225
Y
19
18955053
L367P
A
G
missense
Het
probably damaging
1.000
0.970
phenotype
03/14/2014
57
254673
Rpl7a-ps5
0.880
R1438
G1
41
Y
17
57839140
C
T
intron
Het
probably benign
12/05/2014
58
160800
Rreb1
0.949
R1438
G1
225
Y
13
37930605
N647D
A
G
missense
Het
probably benign
0.155
0.089
phenotype
03/14/2014
59
160798
Rtn1
0.000
R1438
G1
174
Y
12
72304413
S341T
A
T
missense
Het
probably damaging
0.981
0.072
phenotype
03/14/2014
60
160749
Ryr3
0.385
R1438
G1
225
Y
2
112757701
S2632G
T
C
missense
Het
probably benign
0.181
0.074
phenotype
03/14/2014
61
160810
Scube1
0.146
R1438
G1
183
Y
15
83615026
C633R
A
G
missense
Het
possibly damaging
0.931
0.922
phenotype
03/14/2014
62
160760
Sdk1
0.106
R1438
G1
206
Y
5
142038323
I723F
A
T
missense
Het
probably damaging
0.957
0.080
phenotype
03/14/2014
63
160797
Sec23a
0.465
R1438
G1
225
Y
12
59002010
C109S
A
T
missense
Het
probably damaging
0.981
0.890
phenotype
03/14/2014
64
160756
Sept11
0.441
R1438
G1
225
Y
5
93148428
F60L
T
C
missense
Het
probably damaging
1.000
0.904
phenotype
03/14/2014
65
160772
Sgf29
1.000
R1438
G1
225
Y
7
126671891
G
A
unclassified
2377 bp
Het
probably null
phenotype
03/14/2014
66
160752
Skint5
0.063
R1438
G1
225
Y
4
113556111
A
G
splice site
Het
probably benign
0.090
03/14/2014
67
160762
Smo
1.000
R1438
G1
225
Y
6
29755483
V385I
G
A
missense
Het
possibly damaging
0.895
0.179
phenotype
03/14/2014
68
160793
Tada2a
0.865
R1438
G1
225
Y
11
84110011
T76I
G
A
missense
Het
probably damaging
0.990
0.341
phenotype
03/14/2014
69
160761
Tas2r118
0.056
R1438
G1
222
Y
6
23969423
H213L
T
A
missense
Het
possibly damaging
0.792
0.394
phenotype
03/14/2014
70
160787
Thoc5
1.000
R1438
G1
225
Y
11
4911427
A
T
splice site
Het
probably benign
phenotype
03/14/2014
71
160755
Tmem33
0.198
R1438
G1
225
Y
5
67267291
T
A
splice site
Het
probably null
0.976
03/14/2014
72
160809
Top1mt
0.266
R1438
G1
161
Y
15
75674398
L78P
A
G
missense
Het
probably damaging
1.000
0.647
phenotype
03/14/2014
73
160754
Uvssa
0.120
R1438
G1
221
Y
5
33413884
T
A
splice site
Het
probably benign
0.090
phenotype
03/14/2014
74
160765
Vmn2r50
0.098
R1438
G1
83
N
7
10050135
C137*
A
T
nonsense
Het
probably null
03/14/2014
75
160784
Vmn2r81
0.063
R1438
G1
225
Y
10
79293857
T861A
A
G
missense
Het
probably benign
0.003
0.090
phenotype
03/14/2014
76
160796
Wnt3
1.000
R1438
G1
186
Y
11
103808251
N61I
A
T
missense
Het
probably damaging
0.995
0.141
phenotype
03/14/2014
77
160766
Zswim9
0.076
R1438
G1
176
Y
7
13277218
I68T
A
G
missense
Het
possibly damaging
0.862
0.096
03/14/2014
78
160792
Zzef1
0.000
R1438
G1
225
Y
11
72912945
I2535T
T
C
missense
Het
probably damaging
0.959
0.260
03/14/2014
[records 1 to 78 of 78]