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Incidental Mutations
67
incidental mutations are currently displayed, and affect
66
genes.
8
are Possibly Damaging.
19
are Probably Damaging.
29
are Probably Benign.
10
are Probably Null.
4
create premature stop codons.
3
are critical splice junction mutations.
Mutations in Coding Regions/Splice Sites Identified by Next-Gen Sequencing
[records 1 to 67 of 67]
10
25
50
100
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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
327247
4933409G03Rik
0.099
R4424
G1
225
Y
2
68615147
A
T
unclassified
Het
probably benign
0.090
07/07/2015
2
327253
Aimp1
0.770
R4424
G1
225
Y
3
132667492
L229Q
A
T
missense
Het
probably benign
0.008
0.090
phenotype
07/07/2015
3
327242
Ankrd16
0.100
R4424
G1
225
Y
2
11784404
D267E
T
A
missense
Het
possibly damaging
0.946
0.166
07/07/2015
4
327284
Apol11b
0.051
R4424
G1
225
Y
15
77637933
A
G
critical splice donor site
2 bp
Het
probably null
0.938
07/07/2015
5
327251
Arfgap1
0.233
R4424
G1
225
Y
2
180981076
D327E
C
A
missense
Het
probably benign
0.005
0.071
phenotype
07/07/2015
6
327270
Arid3b
1.000
R4424
G1
225
Y
9
57833868
D98E
A
T
missense
Het
probably benign
0.217
0.071
phenotype
07/07/2015
7
327263
Art2b
0.058
R4424
G1
225
Y
7
101579922
I257F
T
A
missense
Het
probably benign
0.228
0.090
07/07/2015
8
327301
Atp5a1
1.000
R4424
G1
225
Y
18
77780066
T
A
intron
Het
probably benign
0.090
phenotype
07/07/2015
9
327280
Carmil3
0.345
R4424
G1
225
Y
14
55501471
T861A
A
G
missense
Het
probably benign
0.000
0.061
07/07/2015
10
327269
Cep164
1.000
R4424
G1
225
Y
9
45779704
F1259L
A
T
missense
Het
possibly damaging
0.918
0.179
phenotype
07/07/2015
11
327241
Chrnd
0.139
R4424
G1
225
N
1
87195790
V350A
T
C
missense
Het
probably benign
0.378
phenotype
07/07/2015
12
327295
Clcn7
1.000
R4424
G1
225
Y
17
25160176
L744P
T
C
missense
Het
probably damaging
1.000
0.963
phenotype
07/07/2015
13
327273
Csl
0.756
R4424
G1
225
Y
10
99758591
D204V
T
A
missense
Het
possibly damaging
0.821
0.179
07/07/2015
14
327304
Cyp2c29
0.107
R4424
G1
225
Y
19
39287176
W20L
G
T
missense
Het
probably damaging
0.984
0.799
07/07/2015
15
327275
Dhrs13
0.076
R4424
G1
225
Y
11
78037125
G266*
G
T
nonsense
Het
probably null
0.976
07/07/2015
16
327262
Dll3
0.477
R4424
G1
225
Y
7
28296291
N362D
T
C
missense
Het
probably damaging
0.999
0.813
phenotype
07/07/2015
17
381270
Fanca
0.557
R4424
G1
204
Y
8
123288793
V715A
A
G
missense
Het
probably benign
0.113
0.090
phenotype
04/27/2016
18
327266
Fhod1
0.235
R4424
G1
225
Y
8
105337351
T
C
unclassified
Het
probably benign
0.082
07/07/2015
19
327294
Fpr2
0.080
R4424
G1
225
Y
17
17893132
P130L
C
T
missense
Het
probably damaging
1.000
0.590
phenotype
07/07/2015
20
327271
Glce
1.000
R4424
G1
225
Y
9
62060253
Y539H
A
G
missense
Het
probably damaging
0.997
0.594
phenotype
07/07/2015
21
327276
Gm11639
0.104
R4424
G1
225
Y
11
104736114
T
G
critical splice donor site
2 bp
Het
probably null
0.935
07/07/2015
22
327291
Gm4758
0.056
R4424
G1
225
Y
16
36312589
D76G
A
G
splice site
Het
probably null
0.525
0.976
07/07/2015
23
327279
Hfe
0.053
R4424
G1
225
Y
13
23706883
V91E
A
T
missense
Het
probably benign
0.061
0.090
phenotype
07/07/2015
24
327248
Hoxd13
0.589
R4424
G1
225
Y
2
74669957
K281*
A
T
nonsense
Het
probably null
0.975
phenotype
07/07/2015
25
327278
Ighv1-66
0.176
R4424
G1
225
Y
12
115593537
W3R
A
T
missense
Het
probably damaging
0.969
0.647
07/07/2015
26
327293
Impg2
0.085
R4424
G1
225
Y
16
56260025
V622I
G
A
missense
Het
possibly damaging
0.561
0.179
phenotype
07/07/2015
27
327255
Jun
1.000
R4424
G1
184
Y
4
95050847
M142T
A
G
missense
Het
probably benign
0.000
0.073
phenotype
07/07/2015
28
327288
Krt78
0.074
R4424
G1
225
Y
15
101947940
T479A
T
C
missense
Het
probably benign
0.134
0.090
phenotype
07/07/2015
29
327297
Lama3
1.000
R4424
G1
225
Y
18
12519872
C216*
T
A
nonsense
Het
probably null
0.975
phenotype
07/07/2015
30
327260
Lin54
0.947
R4424
G1
225
Y
5
100446560
T582K
G
T
missense
Het
probably damaging
0.976
0.647
phenotype
07/07/2015
31
327292
Maats1
0.000
R4424
G1
225
Y
16
38320365
P409T
G
T
missense
Het
probably damaging
0.998
0.284
07/07/2015
32
327286
Mapk11
0.000
R4424
G1
225
Y
15
89145373
A
G
critical splice donor site
2 bp
Het
probably null
0.959
phenotype
07/07/2015
33
327243
Mindy3
0.150
R4424
G1
225
Y
2
12348199
M397T
A
G
missense
Het
probably benign
0.002
0.059
phenotype
07/07/2015
34
327244
Mrpl41
0.000
R4424
G1
225
Y
2
24974406
T85A
T
C
missense
Het
possibly damaging
0.910
0.396
phenotype
07/07/2015
35
327296
Msh6
1.000
R4424
G1
225
Y
17
87990789
L1354*
T
A
nonsense
Het
probably null
0.976
phenotype
07/07/2015
36
327282
Mtmr12
0.000
R4424
G1
225
Y
15
12230314
V41A
T
C
missense
Het
probably damaging
0.984
0.093
phenotype
07/07/2015
37
327274
Myh2
0.208
R4424
G1
225
Y
11
67192725
Q1478L
A
T
missense
Het
probably benign
0.007
0.116
phenotype
07/07/2015
38
327272
Myo6
0.000
R4424
G1
225
Y
9
80288038
K897E
A
G
missense
Het
probably benign
0.262
0.073
phenotype
07/07/2015
39
327283
Naprt
0.072
R4424
G1
225
Y
15
75892756
G
T
splice site
Het
probably null
0.976
phenotype
07/07/2015
40
327281
Nrl
0.614
R4424
G1
191
Y
14
55522218
S84L
G
A
missense
Het
probably benign
0.044
0.090
phenotype
07/07/2015
41
327303
Nxf1
1.000
R4424
G1
225
Y
19
8766764
A
G
utr 3 prime
Het
probably benign
0.090
phenotype
07/07/2015
42
327268
Olfr971
0.076
R4424
G1
225
Y
9
39840356
R307S
A
T
missense
Het
possibly damaging
0.524
0.179
phenotype
07/07/2015
43
327285
Panx2
0.000
R4424
G1
225
Y
15
89068220
V305F
G
T
missense
Het
probably benign
0.016
0.090
phenotype
07/07/2015
44
327299
Pcdhga1
0.000
R4424
G1
225
Y
18
37662579
L212P
T
C
missense
Het
probably damaging
0.972
0.902
phenotype
07/07/2015
45
327305
Pik3ap1
0.000
R4424
G1
225
Y
19
41375881
T133I
G
A
missense
Het
probably benign
0.001
0.070
phenotype
07/07/2015
46
327258
Ppat
0.961
R4424
G1
225
Y
5
76915214
W517R
A
G
missense
Het
probably damaging
1.000
0.655
phenotype
07/07/2015
47
327250
Ppp1r16b
0.000
R4424
G1
225
Y
2
158757254
T382I
C
T
missense
Het
probably benign
0.001
0.060
phenotype
07/07/2015
48
327289
Prkdc
0.953
R4424
G1
225
Y
16
15773739
K2694E
A
G
missense
Het
probably damaging
0.977
0.109
phenotype
07/07/2015
49
327290
Prkdc
0.953
R4424
G1
225
Y
16
15836082
R3901H
G
A
missense
Het
probably damaging
1.000
0.581
phenotype
07/07/2015
50
327298
Psma8
0.136
R4424
G1
225
Y
18
14721190
I42M
A
G
missense
Het
probably damaging
0.992
0.180
07/07/2015
51
327254
Ptprd
0.000
R4424
G1
225
Y
4
76102963
M599K
A
T
missense
Het
probably benign
0.218
0.071
phenotype
07/07/2015
52
327300
Rnmt
1.000
R4424
G1
225
Y
18
68311671
D237G
A
G
missense
Het
probably null
0.070
0.075
07/07/2015
53
327277
Rpl31-ps17
0.109
R4424
G1
225
Y
12
54701612
C
T
unclassified
Het
noncoding transcript
0.087
07/07/2015
54
327287
Scaf11
0.000
R4424
G1
225
Y
15
96418428
T1085I
G
A
missense
Het
possibly damaging
0.779
0.179
07/07/2015
55
500619
Sec14l3
0.161
R4424
G1
213
N
11
4066210
R43Q
G
A
missense
Het
probably damaging
1.000
phenotype
12/01/2017
56
327249
Shc4
0.162
R4424
G1
225
Y
2
125652522
T131K
G
T
missense
Het
probably benign
0.000
0.090
07/07/2015
57
470077
Snx27
1.000
R4424
G1
225
N
3
94562023
F4L
A
G
missense
Het
probably benign
0.032
phenotype
03/06/2017
58
327307
Sorcs1
0.109
R4424
G1
225
Y
19
50378941
T228A
T
C
missense
Het
probably damaging
0.970
0.073
phenotype
07/07/2015
59
327246
Sptan1
1.000
R4424
G1
139
Y
2
30029709
C
T
intron
Het
probably benign
0.090
phenotype
07/07/2015
60
327302
Syvn1
1.000
R4424
G1
225
Y
19
6049921
C
T
intron
Het
probably benign
0.090
phenotype
07/07/2015
61
327257
Tex47
0.062
R4424
G1
225
Y
5
7305364
A182S
G
T
missense
Het
probably benign
0.105
0.090
07/07/2015
62
327259
Thegl
0.073
R4424
G1
225
Y
5
77054536
I268T
T
C
missense
Het
possibly damaging
0.914
0.064
07/07/2015
63
327261
Tpcn1
0.000
R4424
G1
225
Y
5
120542518
K549R
T
C
missense
Het
probably damaging
0.999
0.577
phenotype
07/07/2015
64
327264
Upf3a
0.000
R4424
G1
225
Y
8
13796573
P318T
C
A
missense
Het
probably benign
0.090
0.090
phenotype
07/07/2015
65
327256
Zbtb40
0.159
R4424
G1
180
Y
4
136998694
M518K
A
T
missense
Het
probably damaging
0.965
0.168
07/07/2015
66
327267
Zcchc14
0.000
R4424
G1
208
N
8
121651941
G
A
intron
Het
probably benign
07/07/2015
67
327252
Zfp687
0.697
R4424
G1
225
Y
3
95009128
P861L
G
A
missense
Het
probably damaging
1.000
0.270
phenotype
07/07/2015
[records 1 to 67 of 67]