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Incidental Mutations
61
incidental mutations are currently displayed, and affect
61
genes.
6
are Possibly Damaging.
17
are Probably Damaging.
29
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 61 of 61]
10
25
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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
454338
Adarb1
1.000
R5869
G1
211
Y
10
77325616
T
C
intron
Het
probably benign
0.090
phenotype
02/10/2017
2
454350
Arsk
0.000
R5869
G1
220
Y
13
76091784
E100G
T
C
missense
Het
probably benign
0.292
0.103
phenotype
02/10/2017
3
454337
Ascc3
0.966
R5869
G1
225
Y
10
50842183
R1991*
C
T
nonsense
Het
probably null
0.976
phenotype
02/10/2017
4
454345
Aspscr1
0.000
R5869
G1
225
Y
11
120688920
I31T
T
C
missense
Het
possibly damaging
0.548
0.179
phenotype
02/10/2017
5
454322
Asz1
0.241
R5869
G1
225
Y
6
18074940
T
C
unclassified
Het
probably benign
phenotype
02/10/2017
6
454347
Calm5
0.136
R5869
G1
225
Y
13
3854321
T
A
splice site
Het
probably benign
0.090
02/10/2017
7
454330
Car5a
0.183
R5869
G1
225
Y
8
121916380
T295I
G
A
missense
Het
probably benign
0.000
0.090
phenotype
02/10/2017
8
454325
Ccdc174
1.000
R5869
G1
225
Y
6
91885418
T
A
utr 3 prime
Het
probably benign
phenotype
02/10/2017
9
454315
Celsr2
0.000
R5869
G1
182
Y
3
108413909
A529V
G
A
missense
Het
probably damaging
1.000
0.524
phenotype
02/10/2017
10
454361
Cep192
0.000
R5869
G1
225
Y
18
67815864
D252G
A
G
missense
Het
probably benign
0.006
0.090
02/10/2017
11
454318
Clcnka
0.000
R5869
G1
209
Y
4
141394965
F217L
A
G
missense
Het
probably benign
0.084
0.118
phenotype
02/10/2017
12
501956
Cnot3
1.000
R5869
G1
163
Y
7
3644930
A
T
unclassified
Het
probably benign
phenotype
01/31/2018
13
501955
Coro1c
0.000
R5869
G1
47
Y
5
113850846
A
G
intron
Het
probably benign
phenotype
01/31/2018
14
454311
Cstf3
0.963
R5869
G1
225
Y
2
104659240
A
G
splice site
Het
probably null
0.976
phenotype
02/10/2017
15
454348
Dcdc2a
0.390
R5869
G1
202
Y
13
25107730
P233S
C
T
missense
Het
probably benign
0.047
0.060
phenotype
02/10/2017
16
454321
Ddx55
1.000
R5869
G1
225
Y
5
124568682
T581A
A
G
missense
Het
probably benign
0.000
0.059
phenotype
02/10/2017
17
454308
Exo1
0.492
R5869
G1
225
Y
1
175901283
S638P
T
C
missense
Het
possibly damaging
0.592
0.179
phenotype
02/10/2017
18
454304
Fam135a
0.159
R5869
G1
225
Y
1
24029430
E616G
T
C
missense
Het
possibly damaging
0.532
0.179
02/10/2017
19
501958
Fignl2
0.151
R5869
G1
28
Y
15
101053280
S374G
T
C
missense
Het
unknown
0.087
01/31/2018
20
454339
Gm4799
0.862
R5869
G1
114
Y
10
82954449
A
T
exon
Het
noncoding transcript
0.099
02/10/2017
21
454320
Hectd4
0.914
R5869
G1
225
Y
5
121343225
T
C
critical splice donor site
2 bp
Het
probably null
0.959
02/10/2017
22
454346
Ighv1-76
0.182
R5869
G1
225
Y
12
115848038
E65G
T
C
missense
Het
probably damaging
0.990
0.647
02/10/2017
23
454331
Igsf9b
0.643
R5869
G1
225
Y
9
27323235
H465Q
C
A
missense
Het
probably benign
0.444
0.065
02/10/2017
24
454335
Itga9
1.000
R5869
G1
225
Y
9
118663889
D284G
A
G
missense
Het
probably damaging
0.996
0.294
phenotype
02/10/2017
25
454326
Itpr1
0.748
R5869
G1
225
Y
6
108473529
S1940P
T
C
missense
Het
probably benign
0.300
0.090
phenotype
02/10/2017
26
454313
Kcnb1
0.000
R5869
G1
149
Y
2
167188071
S185P
A
G
missense
Het
probably benign
0.010
0.844
phenotype
02/10/2017
27
454360
Kif20a
1.000
R5869
G1
225
Y
18
34632415
A822T
G
A
missense
Het
probably benign
0.007
0.090
02/10/2017
28
454355
Krt1
0.477
R5869
G1
225
Y
15
101850131
F199L
A
T
missense
Het
probably damaging
1.000
0.544
phenotype
02/10/2017
29
454359
Lpin2
0.358
R5869
G1
225
Y
17
71232276
A
G
unclassified
Het
probably benign
0.090
phenotype
02/10/2017
30
454309
Lrp1b
0.000
R5869
G1
225
Y
2
41004603
D2204E
A
C
missense
Het
probably damaging
0.977
0.647
phenotype
02/10/2017
31
454351
Mier3
0.775
R5869
G1
225
Y
13
111714850
N427K
T
A
missense
Het
probably damaging
0.999
0.182
02/10/2017
32
490493
Mmp12
0.106
R5869
G1
122
N
9
7348446
GTAATAATAATAATAATAAT
GTAATAATAATAATAAT
intron
Het
probably benign
phenotype
10/20/2017
33
490492
Mroh3
0.063
R5869
G1
225
Y
1
136186123
M643L
T
A
missense
Het
probably benign
0.000
0.090
10/20/2017
34
454356
Myh11
1.000
R5869
G1
225
Y
16
14230800
S548P
A
G
missense
Het
probably damaging
0.999
0.914
phenotype
02/10/2017
35
454324
Nat8f6
0.418
R5869
G1
225
Y
6
85808523
L215V
A
C
missense
Het
possibly damaging
0.514
0.179
02/10/2017
36
454341
Nlrp3
0.063
R5869
G1
225
Y
11
59548134
R179Q
G
A
missense
Het
probably damaging
1.000
0.647
phenotype
02/10/2017
37
454342
Nup88
0.964
R5869
G1
225
Y
11
70969671
E94G
T
C
missense
Het
probably benign
0.009
0.072
phenotype
02/10/2017
38
454332
Pias1
0.958
R5869
G1
225
Y
9
62912766
D306E
A
T
missense
Het
probably benign
0.062
0.072
phenotype
02/10/2017
39
454354
Pick1
0.633
R5869
G1
223
Y
15
79248895
D385G
A
G
missense
Het
probably benign
0.018
0.090
phenotype
02/10/2017
40
501959
Pitx3
0.000
R5869
G1
225
Y
19
46137296
A
T
intron
Het
probably benign
0.090
phenotype
01/31/2018
41
454316
Plpp3
1.000
R5869
G1
219
Y
4
105194962
T
A
critical splice donor site
2 bp
Het
probably null
0.949
phenotype
02/10/2017
42
454363
Prlhr
0.074
R5869
G1
180
Y
19
60467621
R169L
C
A
missense
Het
probably damaging
0.961
0.445
phenotype
02/10/2017
43
454317
Ptprf
0.689
R5869
G1
225
Y
4
118210382
M1872R
A
C
missense
Het
probably damaging
1.000
0.918
phenotype
02/10/2017
44
454327
Ptprh
0.000
R5869
G1
225
Y
7
4601940
D35G
T
C
missense
Het
probably benign
0.001
0.125
phenotype
02/10/2017
45
454340
Rnf130
0.185
R5869
G1
225
Y
11
50085815
A
G
splice site
3 bp
Het
probably null
0.976
phenotype
02/10/2017
46
454352
Rnf17
0.491
R5869
G1
147
Y
14
56505988
E1337A
A
C
missense
Het
possibly damaging
0.936
0.179
phenotype
02/10/2017
47
490494
Sdk2
0.085
R5869
G1
225
Y
11
113851882
Y734H
A
G
missense
Het
probably damaging
0.962
0.539
phenotype
10/20/2017
48
454344
Slc25a10
0.000
R5869
G1
195
Y
11
120498117
T269I
C
T
missense
Het
probably damaging
0.977
0.365
phenotype
02/10/2017
49
454312
Slc4a11
0.198
R5869
G1
140
Y
2
130684459
V855G
A
C
missense
Het
probably benign
0.041
0.094
phenotype
02/10/2017
50
501957
Slc5a5
0.000
R5869
G1
32
Y
8
70892330
R111L
C
A
missense
Het
probably damaging
0.999
0.492
phenotype
01/31/2018
51
454314
Spg20
0.209
R5869
G1
225
Y
3
55135510
M616L
A
T
missense
Het
probably benign
0.005
0.062
phenotype
02/10/2017
52
454323
Tmem229a
0.060
R5869
G1
225
N
6
24954687
D356G
T
C
missense
Het
probably damaging
1.000
02/10/2017
53
454357
Tmem30c
0.058
R5869
G1
225
Y
16
57266562
S293P
A
G
missense
Het
probably damaging
0.987
0.647
02/10/2017
54
454319
Tnfrsf14
0.054
R5869
G1
167
Y
4
154926598
C
A
critical splice donor site
1 bp
Het
probably null
0.949
phenotype
02/10/2017
55
454353
Tnfrsf19
0.000
R5869
G1
225
Y
14
60971178
R298H
C
T
missense
Het
possibly damaging
0.699
0.179
phenotype
02/10/2017
56
454336
Ttc21a
0.335
R5869
G1
225
Y
9
119958792
K809E
A
G
missense
Het
probably benign
0.032
0.153
02/10/2017
57
454310
Ttn
1.000
R5869
G1
225
Y
2
76750209
P23447S
G
A
missense
Het
probably damaging
1.000
0.194
phenotype
02/10/2017
58
454307
Uap1
0.639
R5869
G1
225
Y
1
170151138
T
A
critical splice acceptor site
Het
probably null
0.951
02/10/2017
59
454333
Wdr82
0.957
R5869
G1
225
Y
9
106185304
Q252R
A
G
missense
Het
probably benign
0.003
0.065
phenotype
02/10/2017
60
454358
Zfp523
0.345
R5869
G1
192
Y
17
28194993
I34T
T
C
missense
Het
probably benign
0.366
0.098
02/10/2017
61
454349
Zfp808
0.080
R5869
G1
225
Y
13
62171255
H99Q
T
A
missense
Het
probably damaging
1.000
0.647
02/10/2017
[records 1 to 61 of 61]