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Incidental Mutations
65
incidental mutations are currently displayed, and affect
65
genes.
11
are Possibly Damaging.
28
are Probably Damaging.
20
are Probably Benign.
6
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 65 of 65]
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
239486
2700062C07Rik
0.932
R2212
G1
225
N
18
24470920
Y6C
A
G
missense
Het
probably damaging
1.000
10/15/2014
2
239472
3425401B19Rik
0.080
R2212
G1
225
N
14
32661602
Q802L
T
A
missense
Het
probably benign
0.332
0.090
10/15/2014
3
239470
Adarb2
0.000
R2212
G1
206
N
13
8752618
F643S
T
C
missense
Het
probably damaging
0.999
0.646
phenotype
10/15/2014
4
239482
Angptl4
0.000
R2212
G1
225
N
17
33775418
I401T
A
G
missense
Het
probably damaging
0.994
phenotype
10/15/2014
5
239453
Ap2a2
0.484
R2212
G1
225
N
7
141598776
N105K
T
A
missense
Het
probably benign
0.045
0.240
phenotype
10/15/2014
6
239432
Atp8b4
0.059
R2212
G1
225
N
2
126375757
W613L
C
A
missense
Het
probably damaging
1.000
0.802
phenotype
10/15/2014
7
239463
Coq10a
0.212
R2212
G1
225
N
10
128365129
V93A
A
G
missense
Het
possibly damaging
0.738
0.064
10/15/2014
8
239481
Cyp4f39
0.324
R2212
G1
225
N
17
32487063
E376V
A
T
missense
Het
possibly damaging
0.617
phenotype
10/15/2014
9
239456
Deup1
0.000
R2212
G1
225
N
9
15599843
D213E
A
T
missense
Het
probably benign
0.005
10/15/2014
10
239483
Ehmt2
1.000
R2212
G1
225
N
17
34899365
S39G
A
G
missense
Het
probably benign
0.000
phenotype
10/15/2014
11
239422
Eya1
0.844
R2212
G1
225
N
1
14274209
T
A
critical splice acceptor site
Het
probably null
0.972
phenotype
10/15/2014
12
239436
Fam92a
0.000
R2212
G1
174
N
4
12171696
A
G
critical splice donor site
2 bp
Het
probably null
10/15/2014
13
239429
Fcna
0.000
R2212
G1
225
N
2
25627493
P49A
G
C
missense
Het
probably damaging
0.996
0.363
phenotype
10/15/2014
14
239471
Flnb
1.000
R2212
G1
217
N
14
7881652
AAGGAG
AAG
small deletion
Het
probably benign
phenotype
10/15/2014
15
239468
Fscn2
0.178
R2212
G1
139
N
11
120361591
G
T
start gained
Het
probably benign
phenotype
10/15/2014
16
239441
Gckr
0.000
R2212
G1
225
N
5
31300867
T
A
critical splice donor site
2 bp
Het
probably null
0.948
phenotype
10/15/2014
17
239477
Golgb1
0.908
R2212
G1
225
N
16
36887347
K68E
A
G
missense
Het
probably damaging
0.999
0.163
phenotype
10/15/2014
18
239484
H2-M11
0.054
R2212
G1
225
N
17
36548930
V272M
G
A
missense
Het
probably damaging
1.000
10/15/2014
19
239460
Hace1
0.287
R2212
G1
225
N
10
45648675
D234E
T
A
missense
Het
possibly damaging
0.499
0.241
phenotype
10/15/2014
20
239423
Il18r1
0.000
R2212
G1
221
N
1
40491067
D318V
A
T
missense
Het
probably damaging
1.000
0.553
phenotype
10/15/2014
21
239448
Il4i1
0.000
R2212
G1
225
N
7
44836658
L22P
T
C
missense
Het
probably damaging
0.992
0.638
phenotype
10/15/2014
22
239474
Kcnq3
0.110
R2212
G1
225
N
15
66020293
F411Y
A
T
missense
Het
probably benign
0.000
phenotype
10/15/2014
23
239427
Kcnt2
0.161
R2212
G1
225
N
1
140530800
Y775C
A
G
missense
Het
probably damaging
0.999
phenotype
10/15/2014
24
239475
Krt84
0.087
R2212
G1
225
N
15
101532538
V73G
A
C
missense
Het
probably benign
0.013
phenotype
10/15/2014
25
239465
Lcp2
1.000
R2212
G1
225
N
11
34070995
D117A
A
C
missense
Het
probably benign
0.136
phenotype
10/15/2014
26
239425
Lemd1
0.063
R2212
G1
225
N
1
132228286
T22K
C
A
missense
Het
probably benign
0.109
10/15/2014
27
239426
Mdm4
1.000
R2212
G1
225
N
1
132994522
D294G
T
C
missense
Het
probably damaging
1.000
phenotype
10/15/2014
28
239485
Mep1a
0.000
R2212
G1
225
N
17
43477263
A634V
G
A
missense
Het
probably benign
0.021
phenotype
10/15/2014
29
239478
Myh15
0.213
R2212
G1
225
N
16
49138732
D989G
A
G
missense
Het
probably benign
0.023
0.090
10/15/2014
30
239464
Myo1g
0.000
R2212
G1
225
N
11
6517870
H188Q
G
T
missense
Het
possibly damaging
0.885
0.121
phenotype
10/15/2014
31
239435
Nsmaf
0.085
R2212
G1
225
N
4
6396732
L918F
C
A
missense
Het
probably damaging
0.991
phenotype
10/15/2014
32
239466
Olfr1396
0.064
R2212
G1
225
N
11
49113216
C170Y
C
T
missense
Het
probably damaging
0.998
phenotype
10/15/2014
33
239449
Olfr561
0.114
R2212
G1
225
N
7
102774755
L77P
T
C
missense
Het
possibly damaging
0.775
0.179
phenotype
10/15/2014
34
239450
Olfr635
0.113
R2212
G1
225
N
7
103979402
L76P
T
C
missense
Het
probably damaging
0.978
0.235
phenotype
10/15/2014
35
239457
Olfr963
0.059
R2212
G1
225
N
9
39669228
M57K
T
A
missense
Het
probably damaging
1.000
phenotype
10/15/2014
36
239424
Pfkfb2
0.000
R2212
G1
225
N
1
130707532
N97K
A
T
missense
Het
probably damaging
1.000
phenotype
10/15/2014
37
239462
Phlda1
0.000
R2212
G1
225
N
10
111507168
E255V
A
T
missense
Het
probably damaging
1.000
phenotype
10/15/2014
38
239430
Pla2g4f
0.053
R2212
G1
225
N
2
120303106
S579G
T
C
missense
Het
probably benign
0.000
0.093
10/15/2014
39
239446
Plcz1
0.000
R2212
G1
225
N
6
140002081
R525Q
C
T
missense
Het
probably damaging
0.984
0.647
phenotype
10/15/2014
40
239487
Ppargc1b
0.391
R2212
G1
225
N
18
61311220
Q291*
G
A
nonsense
Het
probably null
phenotype
10/15/2014
41
239443
Ppef2
0.000
R2212
G1
225
N
5
92228722
S649R
T
G
missense
Het
probably damaging
0.967
0.089
phenotype
10/15/2014
42
239454
Ppp1r3b
0.458
R2212
G1
225
N
8
35384225
T73A
A
G
missense
Het
possibly damaging
0.921
phenotype
10/15/2014
43
239459
Prss43
0.070
R2212
G1
225
N
9
110829464
Q277H
G
C
missense
Het
probably damaging
0.996
0.647
10/15/2014
44
239437
Rusc2
0.159
R2212
G1
222
N
4
43415935
S414A
T
G
missense
Het
probably damaging
1.000
0.102
phenotype
10/15/2014
45
239469
Serpina3j
0.057
R2212
G1
225
N
12
104314726
D53N
G
A
missense
Het
probably damaging
0.989
10/15/2014
46
239444
Sez6l
0.000
R2212
G1
206
N
5
112475361
L108P
A
G
missense
Het
possibly damaging
0.764
0.179
phenotype
10/15/2014
47
239440
Slc1a7
0.066
R2212
G1
225
N
4
108010994
E497G
A
G
missense
Het
probably benign
0.023
0.076
10/15/2014
48
239438
Spag8
0.070
R2212
G1
225
N
4
43651606
S423C
T
A
missense
Het
probably damaging
1.000
0.178
phenotype
10/15/2014
49
239473
Spata13
0.000
R2212
G1
107
N
14
60706723
T522A
A
G
missense
Het
probably benign
0.001
0.090
phenotype
10/15/2014
50
239476
Spryd3
0.000
R2212
G1
224
N
15
102130276
A
G
critical splice donor site
2 bp
Het
probably null
10/15/2014
51
239488
Sry
0.318
R2212
G1
222
N
Y
2663339
N107I
T
A
missense
Het
probably damaging
0.988
phenotype
10/15/2014
52
239467
St6galnac1
0.059
R2212
G1
225
N
11
116765856
W486R
A
G
missense
Het
probably damaging
1.000
0.190
phenotype
10/15/2014
53
239461
Syt1
1.000
R2212
G1
225
N
10
108504414
P348T
G
T
missense
Het
possibly damaging
0.892
phenotype
10/15/2014
54
239451
Taok2
0.000
R2212
G1
225
N
7
126870858
I933V
T
C
missense
Het
possibly damaging
0.785
0.064
phenotype
10/15/2014
55
239458
Tex9
0.067
R2212
G1
225
N
9
72477758
Q265H
C
A
missense
Het
possibly damaging
0.890
0.179
10/15/2014
56
239428
Tmem63a
0.129
R2212
G1
225
N
1
180963114
D446N
G
A
missense
Het
possibly damaging
0.483
0.625
10/15/2014
57
239434
Trim59
0.059
R2212
G1
225
N
3
69037543
T155A
T
C
missense
Het
probably benign
0.307
10/15/2014
58
239431
Trim69
0.064
R2212
G1
225
N
2
122178644
V395A
T
C
missense
Het
probably benign
0.049
0.315
phenotype
10/15/2014
59
239439
Tusc1
0.000
R2212
G1
160
N
4
93334936
R162L
C
A
missense
Het
probably damaging
0.992
0.364
phenotype
10/15/2014
60
239480
Ubash3a
0.000
R2212
G1
135
N
17
31218034
Q208H
A
T
missense
Het
probably damaging
1.000
phenotype
10/15/2014
61
239445
Ubn2
0.888
R2212
G1
225
N
6
38498739
T1211A
A
G
missense
Het
probably benign
0.032
0.058
10/15/2014
62
239479
Vmn2r110
0.284
R2212
G1
225
N
17
20573947
A
T
splice site
2749 bp
Het
probably null
10/15/2014
63
239447
Vrk3
0.000
R2212
G1
225
N
7
44775442
T427M
C
T
missense
Het
probably benign
0.001
0.090
phenotype
10/15/2014
64
239442
Zfyve28
0.000
R2212
G1
225
N
5
34199684
M723I
C
T
missense
Het
probably benign
0.017
0.090
10/15/2014
65
239433
Zmynd8
1.000
R2212
G1
225
N
2
165815451
M533K
A
T
missense
Het
probably damaging
0.997
0.106
phenotype
10/15/2014
[records 1 to 65 of 65]