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Incidental Mutations
122
incidental mutations are currently displayed, and affect
122
genes.
10
are Possibly Damaging.
53
are Probably Damaging.
37
are Probably Benign.
16
are Probably Null.
2
create premature stop codons.
8
are critical splice junction mutations.
Mutations in Coding Regions/Splice Sites Identified by Next-Gen Sequencing
[records 1 to 100 of 122]
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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
219825
Abca17
0.296
R1970
G1
225
Y
17
24307575
H578Q
A
T
missense
Het
probably benign
0.001
0.120
08/25/2014
2
219725
Abcc12
0.085
R1970
G1
225
Y
8
86527281
I958T
A
G
missense
Het
probably benign
0.274
0.131
phenotype
08/25/2014
3
219837
Abcg5
0.214
R1970
G1
192
Y
17
84673602
AATCATTTG
AG
frame shift
Het
probably null
phenotype
08/25/2014
4
219821
Acap2
0.139
R1970
G1
225
Y
16
31133527
A
G
critical splice donor site
2 bp
Het
probably null
0.532
08/25/2014
5
219813
Adgrb1
0.000
R1970
G1
225
Y
15
74539877
T
C
splice site
Het
probably benign
phenotype
08/25/2014
6
219771
Akap6
0.633
R1970
G1
225
Y
12
52938475
V897E
T
A
missense
Het
probably damaging
0.965
0.024
phenotype
08/25/2014
7
219606
Als2
0.873
R1970
G1
225
Y
1
59215169
L343Q
A
T
missense
Het
probably benign
0.341
0.142
phenotype
08/25/2014
8
219769
Arhgap5
1.000
R1970
G1
225
Y
12
52542593
I1275M
A
G
missense
Het
probably damaging
0.998
0.288
phenotype
08/25/2014
9
219661
Arnt
1.000
R1970
G1
225
Y
3
95448393
S16L
C
T
missense
Het
possibly damaging
0.936
0.156
phenotype
08/25/2014
10
219659
Bglap3
0.061
R1970
G1
225
Y
3
88376993
C
T
unclassified
Het
probably benign
08/25/2014
11
219849
Blnk
0.100
R1970
G1
225
Y
19
40940165
T
C
splice site
Het
probably benign
phenotype
08/25/2014
12
277474
C1qtnf4
0.090
R1970
G1
21
Y
2
90889659
M92T
T
C
missense
Het
probably damaging
0.994
0.108
04/07/2015
13
219670
C77080
0.227
R1970
G1
225
Y
4
129226017
A
G
splice site
Het
probably benign
08/25/2014
14
219773
Ccdc177
0.257
R1970
G1
164
Y
12
80758712
R263C
G
A
missense
Het
unknown
0.146
08/25/2014
15
219705
Ccdc83
0.056
R1970
G1
225
Y
7
90244154
S132C
T
A
missense
Het
probably damaging
1.000
0.114
08/25/2014
16
219679
Cdc7
1.000
R1970
G1
225
Y
5
106973074
A
G
splice site
Het
probably benign
phenotype
08/25/2014
17
219741
Cgnl1
0.217
R1970
G1
225
Y
9
71725535
N178I
T
A
missense
Het
probably benign
0.101
0.143
phenotype
08/25/2014
18
219666
Col27a1
1.000
R1970
G1
225
Y
4
63273117
C
T
splice site
Het
probably benign
phenotype
08/25/2014
19
219620
Col5a1
1.000
R1970
G1
225
Y
2
27986754
M822L
A
T
missense
Het
unknown
0.056
phenotype
08/25/2014
20
219815
Coro7
0.132
R1970
G1
225
Y
16
4633756
I451V
T
C
missense
Het
probably benign
0.191
0.082
phenotype
08/25/2014
21
219804
Csmd3
0.833
R1970
G1
225
Y
15
48673531
T92A
T
C
missense
Het
probably damaging
0.998
0.050
08/25/2014
22
219752
Ddc
1.000
R1970
G1
225
Y
11
11815292
V460A
A
G
missense
Het
possibly damaging
0.870
0.264
phenotype
08/25/2014
23
219790
Ddx4
0.408
R1970
G1
225
Y
13
112600013
V608I
C
T
missense
Het
probably damaging
0.992
0.024
phenotype
08/25/2014
24
219719
Ddx60
0.180
R1970
G1
225
Y
8
61972206
H676L
A
T
missense
Het
possibly damaging
0.934
0.218
phenotype
08/25/2014
25
219672
Dmtf1
0.449
R1970
G1
225
Y
5
9148989
E48G
T
C
missense
Het
probably benign
0.013
0.164
phenotype
08/25/2014
26
219775
Dpf3
0.317
R1970
G1
225
Y
12
83325035
T
A
critical splice acceptor site
Het
probably null
0.558
phenotype
08/25/2014
27
219793
Dydc2
0.067
R1970
G1
225
Y
14
41061903
C88R
A
G
missense
Het
probably benign
0.021
0.064
phenotype
08/25/2014
28
219745
Elovl4
1.000
R1970
G1
225
Y
9
83780719
Y163H
A
G
missense
Het
probably damaging
1.000
0.150
phenotype
08/25/2014
29
219808
Enpp2
1.000
R1970
G1
225
Y
15
54882982
D296G
T
C
missense
Het
probably damaging
0.998
0.072
phenotype
08/25/2014
30
277477
Fam83h
0.470
R1970
G1
113
Y
15
76006570
G
T
unclassified
Het
probably benign
phenotype
04/07/2015
31
219767
Fbf1
0.211
R1970
G1
225
Y
11
116151491
Q511L
T
A
missense
Het
possibly damaging
0.931
0.063
08/25/2014
32
219653
Fhdc1
0.409
R1970
G1
225
Y
3
84454851
L323Q
A
T
missense
Het
probably damaging
1.000
0.026
08/25/2014
33
219628
Fmnl2
0.295
R1970
G1
225
Y
2
53105576
V437D
T
A
missense
Het
possibly damaging
0.931
0.118
phenotype
08/25/2014
34
219749
Foxo3
0.000
R1970
G1
225
Y
10
42197262
S420P
A
G
missense
Het
probably benign
0.240
0.086
phenotype
08/25/2014
35
219831
Foxp4
0.838
R1970
G1
137
Y
17
47875871
R378Q
C
T
missense
Het
unknown
0.238
phenotype
08/25/2014
36
219677
Garem2
0.572
R1970
G1
225
Y
5
30117174
G844*
G
T
nonsense
Het
probably null
0.645
08/25/2014
37
219657
Glmp
0.153
R1970
G1
225
Y
3
88327870
L269S
T
C
missense
Het
probably damaging
1.000
0.081
phenotype
08/25/2014
38
219614
Gm2000
0.821
R1970
G1
93
Y
1
156366447
*124G
T
G
makesense
Het
probably null
0.652
08/25/2014
39
219604
Gm9915
0.189
R1970
G1
225
Y
1
42230721
T
C
exon
Het
noncoding transcript
08/25/2014
40
219650
Gnb4
0.098
R1970
G1
225
Y
3
32598141
D27E
A
T
missense
Het
probably damaging
1.000
0.174
phenotype
08/25/2014
41
219743
Gnb5
0.324
R1970
G1
225
Y
9
75344650
A
G
splice site
3 bp
Het
probably null
0.640
phenotype
08/25/2014
42
219616
Gpr161
1.000
R1970
G1
225
Y
1
165306358
V63G
T
G
missense
Het
probably damaging
0.970
0.132
phenotype
08/25/2014
43
219696
Gsk3a
0.000
R1970
G1
225
Y
7
25229721
T
A
intron
Het
probably benign
phenotype
08/25/2014
44
219655
Hapln2
0.115
R1970
G1
156
Y
3
88024120
T
C
critical splice acceptor site
Het
probably null
0.560
phenotype
08/25/2014
45
219845
Incenp
1.000
R1970
G1
225
Y
19
9885487
T401N
G
T
missense
Het
unknown
0.068
phenotype
08/25/2014
46
219823
Kalrn
0.865
R1970
G1
225
N
16
33977524
A
G
critical splice donor site
2 bp
Het
probably null
phenotype
08/25/2014
47
219811
Kcnq3
0.132
R1970
G1
225
N
15
66028623
A
G
critical splice donor site
2 bp
Het
probably null
phenotype
08/25/2014
48
219612
Kif21b
0.193
R1970
G1
225
N
1
136171156
V1394A
T
C
missense
Het
probably damaging
0.999
phenotype
08/25/2014
49
219636
Klhl23
0.137
R1970
G1
225
Y
2
69833686
C460R
T
C
missense
Het
probably damaging
0.999
0.148
08/25/2014
50
219649
L3mbtl1
0.399
R1970
G1
225
Y
2
162959572
A291T
G
A
missense
Het
probably damaging
0.998
0.170
phenotype
08/25/2014
51
219803
Lcp1
0.796
R1970
G1
191
Y
14
75200506
S119P
T
C
missense
Het
probably damaging
1.000
0.172
phenotype
08/25/2014
52
219698
Ldhc
0.292
R1970
G1
225
Y
7
46869751
I133V
A
G
missense
Het
probably benign
0.093
0.076
phenotype
08/25/2014
53
219715
Lmntd2
0.087
R1970
G1
225
Y
7
141212059
G
A
unclassified
Het
probably benign
08/25/2014
54
219721
Lpl
1.000
R1970
G1
225
Y
8
68896802
K327*
A
T
nonsense
Het
probably null
0.600
phenotype
08/25/2014
55
219624
Lrp1b
0.000
R1970
G1
225
Y
2
40875069
D2801G
T
C
missense
Het
probably damaging
0.998
0.446
phenotype
08/25/2014
56
219844
Mppe1
0.102
R1970
G1
225
Y
18
67229772
A131S
C
A
missense
Het
probably benign
0.066
0.126
08/25/2014
57
219789
Msh3
0.414
R1970
G1
225
Y
13
92249820
T
A
splice site
Het
probably benign
0.058
phenotype
08/25/2014
58
219829
Msh5
0.000
R1970
G1
98
Y
17
35033600
I377T
A
G
missense
Het
probably damaging
0.991
0.318
phenotype
08/25/2014
59
219739
Myo1e
0.000
R1970
G1
225
Y
9
70368773
F757L
T
C
missense
Het
probably benign
0.005
0.218
phenotype
08/25/2014
60
219848
Myof
0.353
R1970
G1
225
Y
19
37945634
D955E
A
T
missense
Het
probably damaging
0.989
0.266
phenotype
08/25/2014
61
219638
Nckap1
1.000
R1970
G1
225
Y
2
80517942
S889N
C
T
missense
Het
probably benign
0.119
0.036
phenotype
08/25/2014
62
219682
Ncor2
1.000
R1970
G1
211
Y
5
125038918
D858G
T
C
missense
Het
probably damaging
0.994
0.142
phenotype
08/25/2014
63
219626
Neb
0.581
R1970
G1
225
Y
2
52263905
V2398D
A
T
missense
Het
possibly damaging
0.773
0.160
phenotype
08/25/2014
64
219800
Nefl
0.000
R1970
G1
225
Y
14
68086672
T453R
C
G
missense
Het
probably benign
0.204
0.128
phenotype
08/25/2014
65
219765
Nf1
1.000
R1970
G1
225
Y
11
79553961
N371D
A
G
missense
Het
probably benign
0.075
0.148
phenotype
08/25/2014
66
219784
Nlrp4f
0.249
R1970
G1
225
Y
13
65194091
Y580C
T
C
missense
Het
probably damaging
0.999
0.022
08/25/2014
67
219781
Nme8
0.225
R1970
G1
225
Y
13
19652322
L228R
A
C
missense
Het
probably damaging
0.998
0.110
phenotype
08/25/2014
68
219706
Numa1
1.000
R1970
G1
225
Y
7
102009322
A1605V
C
T
missense
Het
probably damaging
0.983
0.304
phenotype
08/25/2014
69
219852
Ofd1
0.174
R1970
G1
222
Y
X
166427214
Y205C
T
C
missense
Het
probably benign
0.232
0.388
phenotype
08/25/2014
70
219641
Olfr1047
0.139
R1970
G1
225
Y
2
86228252
T240S
T
A
missense
Het
probably damaging
1.000
0.196
phenotype
08/25/2014
71
219643
Olfr1283
0.130
R1970
G1
225
Y
2
111369076
S148L
C
T
missense
Het
probably benign
0.195
0.035
phenotype
08/25/2014
72
277476
Olfr1532-ps1
0.069
R1970
G1
74
Y
7
106914246
G16D
G
A
missense
Het
probably damaging
0.999
0.336
phenotype
04/07/2015
73
219709
Olfr693
0.135
R1970
G1
225
Y
7
106677670
N272I
T
A
missense
Het
probably damaging
0.986
0.138
phenotype
08/25/2014
74
219735
Olfr972
0.000
R1970
G1
225
Y
9
39873938
I221N
T
A
missense
Het
probably damaging
1.000
0.031
phenotype
08/25/2014
75
219674
Pclo
0.000
R1970
G1
225
Y
5
14713473
T3987A
A
G
missense
Het
unknown
0.034
phenotype
08/25/2014
76
219841
Pdgfrb
1.000
R1970
G1
225
Y
18
61066494
G
A
splice site
Het
probably benign
phenotype
08/25/2014
77
219751
Pdxk
0.795
R1970
G1
222
Y
10
78441154
T270I
G
A
missense
Het
probably damaging
1.000
0.536
phenotype
08/25/2014
78
219689
Pex5
1.000
R1970
G1
225
Y
6
124414405
E10G
T
C
missense
Het
probably damaging
0.999
0.280
phenotype
08/25/2014
79
219690
Pik3c2g
0.134
R1970
G1
208
Y
6
139900386
T
A
critical splice donor site
2 bp
Het
probably null
0.546
phenotype
08/25/2014
80
219600
Pkhd1
0.301
R1970
G1
225
Y
1
20381523
I2183F
T
A
missense
Het
probably damaging
1.000
0.116
phenotype
08/25/2014
81
219731
Plppr2
0.145
R1970
G1
225
Y
9
21941126
V102A
T
C
missense
Het
probably damaging
0.991
0.118
08/25/2014
82
219687
Plxnd1
1.000
R1970
G1
155
Y
6
115962517
T1449A
T
C
missense
Het
probably damaging
1.000
0.204
phenotype
08/25/2014
83
219608
Pnkd
0.143
R1970
G1
225
Y
1
74285910
T
A
unclassified
Het
probably null
0.126
phenotype
08/25/2014
84
219783
Pom121l2
0.070
R1970
G1
225
Y
13
21983472
I638V
A
G
missense
Het
probably damaging
0.978
0.230
08/25/2014
85
219717
Prag1
0.311
R1970
G1
225
Y
8
36129160
A
G
splice site
Het
probably null
0.660
phenotype
08/25/2014
86
219729
Ranbp10
0.221
R1970
G1
225
Y
8
105786708
F191L
A
G
missense
Het
probably damaging
0.998
0.412
phenotype
08/25/2014
87
219622
Rapgef1
1.000
R1970
G1
170
Y
2
29733711
L824P
T
C
missense
Het
probably damaging
0.999
0.340
phenotype
08/25/2014
88
219794
Rec8
0.000
R1970
G1
225
Y
14
55624142
L418P
T
C
missense
Het
probably damaging
0.997
0.196
phenotype
08/25/2014
89
219684
Rimbp2
0.000
R1970
G1
225
Y
5
128797241
N429Y
T
A
missense
Het
probably damaging
1.000
0.520
phenotype
08/25/2014
90
219665
Rpe65
0.219
R1970
G1
225
Y
3
159615670
T373K
C
A
missense
Het
probably benign
0.000
0.125
phenotype
08/25/2014
91
219817
Rrn3
1.000
R1970
G1
225
Y
16
13789074
S151P
T
C
missense
Het
probably damaging
0.998
0.342
phenotype
08/25/2014
92
219633
Scn7a
0.279
R1970
G1
225
Y
2
66684289
V1047A
A
G
missense
Het
possibly damaging
0.888
0.204
phenotype
08/25/2014
93
219630
Scn9a
1.000
R1970
G1
225
Y
2
66515380
P1123Q
G
T
missense
Het
probably damaging
0.973
0.074
phenotype
08/25/2014
94
219645
Secisbp2l
0.441
R1970
G1
225
Y
2
125747510
D706G
T
C
missense
Het
probably damaging
0.998
0.292
08/25/2014
95
219777
Serpina5
0.000
R1970
G1
225
Y
12
104103857
T338S
A
T
missense
Het
probably benign
0.016
0.110
phenotype
08/25/2014
96
219763
Sez6
0.167
R1970
G1
225
Y
11
77954068
G
A
critical splice donor site
1 bp
Het
probably null
0.516
phenotype
08/25/2014
97
219610
Shisa4
0.000
R1970
G1
225
Y
1
135372274
G157D
C
T
missense
Het
probably damaging
1.000
0.118
phenotype
08/25/2014
98
277475
Slc1a7
0.078
R1970
G1
59
Y
4
107968585
D14Y
G
T
missense
Het
probably benign
0.055
0.108
04/07/2015
99
219761
Slc25a11
0.635
R1970
G1
225
Y
11
70646173
L51V
A
C
missense
Het
probably benign
0.250
0.024
phenotype
08/25/2014
100
219756
Slit3
0.799
R1970
G1
225
Y
11
35630841
A
G
critical splice acceptor site
Het
probably null
0.494
phenotype
08/25/2014
[records 1 to 100 of 122]
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