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Incidental Mutations
66
incidental mutations are currently displayed, and affect
66
genes.
9
are Possibly Damaging.
17
are Probably Damaging.
29
are Probably Benign.
7
are Probably Null.
2
create premature stop codons.
3
are critical splice junction mutations.
Mutations in Coding Regions/Splice Sites Identified by Next-Gen Sequencing
[records 1 to 66 of 66]
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
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
394267
Abca13
0.000
R5044
G1
225
Y
11
9373323 (GRCm38)
F3387I
T
A
missense
Het
possibly damaging
0.801
0.133
phenotype
2016-06-15
2
394249
Acacb
0.000
R5044
G1
225
Y
5
114166027 (GRCm38)
S170R
T
A
missense
Het
probably benign
0.033
0.090
phenotype
2016-06-15
3
394239
Adamtsl4
0.000
R5044
G1
225
Y
3
95681650 (GRCm38)
A
G
critical splice donor site
2 bp
Het
probably null
0.948
phenotype
2016-06-15
4
394273
Adgrv1
0.000
R5044
G1
225
Y
13
81488931 (GRCm38)
C3464R
A
G
missense
Het
probably benign
0.010
0.090
phenotype
2016-06-15
5
394260
Apbb1
0.000
R5044
G1
204
Y
7
105565682 (GRCm38)
A
T
intron
Het
probably benign
0.090
phenotype
2016-06-15
6
394246
Cad
0.966
R5044
G1
132
Y
5
31055021 (GRCm38)
T23A
A
G
missense
Het
probably benign
0.001
0.063
phenotype
2016-06-15
7
394231
Cdca7
0.129
R5044
G1
134
Y
2
72483415 (GRCm38)
R183G
A
G
missense
Het
probably benign
0.000
0.060
phenotype
2016-06-15
8
394277
Cdpf1
0.051
R5044
G1
176
N
15
85809312 (GRCm38)
T5A
T
C
missense
Het
probably benign
0.001
2016-06-15
9
394244
Cep85
0.953
R5044
G1
225
Y
4
134156179 (GRCm38)
D133G
T
C
missense
Het
probably damaging
0.974
0.141
phenotype
2016-06-15
10
394247
Chrna9
0.105
R5044
G1
225
Y
5
65971016 (GRCm38)
L189P
T
C
missense
Het
probably damaging
0.992
0.647
phenotype
2016-06-15
11
394241
Clca1
0.124
R5044
G1
225
Y
3
145007928 (GRCm38)
A
C
splice site
Het
probably null
0.976
phenotype
2016-06-15
12
394280
Cntn1
1.000
R5044
G1
225
Y
15
92242995 (GRCm38)
V201F
G
T
missense
Het
probably damaging
1.000
0.777
phenotype
2016-06-15
13
394228
Col4a3
0.000
R5044
G1
225
Y
1
82666546 (GRCm38)
E352G
A
G
missense
Het
unknown
0.058
phenotype
2016-06-15
14
394261
Ddhd2
0.153
R5044
G1
225
Y
8
25752137 (GRCm38)
Y237C
T
C
missense
Het
probably damaging
0.999
0.436
phenotype
2016-06-15
15
394254
Dnah6
0.123
R5044
G1
225
Y
6
73037622 (GRCm38)
F3609V
A
C
missense
Het
probably benign
0.408
0.127
phenotype
2016-06-15
16
394282
Epha3
0.362
R5044
G1
225
Y
16
63602287 (GRCm38)
K580R
T
C
missense
Het
possibly damaging
0.792
0.087
phenotype
2016-06-15
17
394276
Fam135b
0.000
R5044
G1
225
Y
15
71462711 (GRCm38)
N878S
T
C
missense
Het
probably benign
0.017
0.072
2016-06-15
18
394256
Fam71e2
0.098
R5044
G1
225
Y
7
4758661 (GRCm38)
N351D
T
C
missense
Het
probably benign
0.002
0.090
2016-06-15
19
394235
Fbn1
0.914
R5044
G1
225
Y
2
125329102 (GRCm38)
T1938P
T
G
missense
Het
probably damaging
0.969
0.647
phenotype
2016-06-15
20
394270
Foxg1
1.000
R5044
G1
225
Y
12
49385186 (GRCm38)
V234A
T
C
missense
Het
probably damaging
0.999
0.796
phenotype
2016-06-15
21
394251
Glt1d1
0.049
R5044
G1
207
Y
5
127644414 (GRCm38)
N55I
A
T
missense
Het
probably benign
0.382
0.239
2016-06-15
22
453049
Gm17641
R5044
G1
46
Y
3
68869474 (GRCm38)
C
A
unclassified
Het
probably benign
0.090
2017-01-25
23
394287
Gm7665
0.348
R5044
G1
225
Y
18
16274731 (GRCm38)
A
G
exon
Het
noncoding transcript
2016-06-15
24
453050
Hgf
1.000
R5044
G1
225
Y
5
16614894 (GRCm38)
N541T
A
C
missense
Het
probably benign
0.001
0.090
phenotype
2017-01-25
25
394252
Hipk2
0.955
R5044
G1
225
Y
6
38818879 (GRCm38)
P152S
G
A
missense
Het
probably benign
0.064
0.068
phenotype
2016-06-15
26
394272
Jarid2
1.000
R5044
G1
116
Y
13
44906565 (GRCm38)
L720F
C
T
missense
Het
probably damaging
1.000
0.185
phenotype
2016-06-15
27
500893
Kifc5b
0.445
R5044
G1
225
N
17
26924787 (GRCm38)
E511G
A
G
missense
Het
probably damaging
1.000
2017-12-01
28
394262
Ldlr
0.000
R5044
G1
166
Y
9
21735242 (GRCm38)
A235T
G
A
missense
Het
probably benign
0.001
0.195
phenotype
2016-06-15
29
394281
Lmln
0.132
R5044
G1
225
Y
16
33074180 (GRCm38)
D231G
A
G
missense
Het
possibly damaging
0.801
0.876
phenotype
2016-06-15
30
394266
Lrp1
1.000
R5044
G1
225
Y
10
127567495 (GRCm38)
C2070R
A
G
missense
Het
probably damaging
0.999
0.871
phenotype
2016-06-15
31
394274
Mbl1
0.000
R5044
G1
225
Y
14
41158724 (GRCm38)
T190A
A
G
missense
Het
possibly damaging
0.946
0.179
phenotype
2016-06-15
32
394242
Mpdz
0.000
R5044
G1
225
Y
4
81381697 (GRCm38)
S355T
A
T
missense
Het
probably benign
0.160
0.062
phenotype
2016-06-15
33
394279
Muc19
0.280
R5044
G1
225
Y
15
91888138 (GRCm38)
C
T
exon
Het
noncoding transcript
phenotype
2016-06-15
34
394275
Mycbp2
1.000
R5044
G1
225
Y
14
103139235 (GRCm38)
A
C
critical splice donor site
2 bp
Het
probably null
0.959
phenotype
2016-06-15
35
394236
Naa20
0.925
R5044
G1
225
Y
2
145915842 (GRCm38)
S164P
T
C
missense
Het
probably damaging
0.998
0.129
phenotype
2016-06-15
36
394285
Nme4
0.000
R5044
G1
225
Y
17
26093833 (GRCm38)
A
T
unclassified
Het
probably benign
0.090
phenotype
2016-06-15
37
394226
Npas2
0.000
R5044
G1
178
Y
1
39347506 (GRCm38)
R619*
A
T
nonsense
Het
probably null
0.971
phenotype
2016-06-15
38
394258
Nudt19
0.000
R5044
G1
142
Y
7
35555746 (GRCm38)
T20I
G
A
missense
Het
possibly damaging
0.655
0.179
2016-06-15
39
394233
Olfr1224-ps1
0.055
R5044
G1
225
Y
2
89156939 (GRCm38)
K79*
T
A
nonsense
Het
probably null
0.965
2016-06-15
40
394289
Olfr1447
0.057
R5044
G1
225
Y
19
12901001 (GRCm38)
Y260H
A
G
missense
Het
probably damaging
1.000
0.300
phenotype
2016-06-15
41
394269
Pitpnc1
0.141
R5044
G1
225
Y
11
107296228 (GRCm38)
Y90H
A
G
missense
Het
possibly damaging
0.901
0.134
2016-06-15
42
394288
Rcor2
0.871
R5044
G1
225
Y
19
7269785 (GRCm38)
T6A
A
G
missense
Het
probably benign
0.005
0.061
phenotype
2016-06-15
43
394230
Rif1
1.000
R5044
G1
225
Y
2
52109928 (GRCm38)
S1131R
T
A
missense
Het
probably damaging
0.989
0.141
phenotype
2016-06-15
44
394255
Rtkn
0.072
R5044
G1
157
Y
6
83150991 (GRCm38)
D377E
T
A
missense
Het
probably benign
0.010
0.059
phenotype
2016-06-15
45
453048
Rtn4rl2
0.669
R5044
G1
30
Y
2
84872502 (GRCm38)
N242I
T
A
missense
Het
probably damaging
0.995
0.397
phenotype
2017-01-25
46
394265
Sbno2
0.398
R5044
G1
205
Y
10
80062188 (GRCm38)
L719F
G
A
missense
Het
probably benign
0.107
0.090
phenotype
2016-06-15
47
394263
Scn11a
0.087
R5044
G1
225
Y
9
119819831 (GRCm38)
D55E
G
T
missense
Het
probably damaging
0.977
0.337
phenotype
2016-06-15
48
394250
Setd1b
1.000
R5044
G1
132
N
5
123151866 (GRCm38)
I632N
T
A
missense
Het
unknown
phenotype
2016-06-15
49
394284
Spaca6
0.060
R5044
G1
225
Y
17
17831196 (GRCm38)
T45A
A
G
missense
Het
probably benign
0.001
0.090
phenotype
2016-06-15
50
394245
Srpk2
0.000
R5044
G1
225
Y
5
23524392 (GRCm38)
D416E
A
T
missense
Het
possibly damaging
0.909
0.096
phenotype
2016-06-15
51
394253
Sspo
0.000
R5044
G1
225
Y
6
48466955 (GRCm38)
A
T
critical splice acceptor site
Het
probably null
0.949
2016-06-15
52
394240
Sycp1
0.409
R5044
G1
225
Y
3
102845054 (GRCm38)
I804N
A
T
missense
Het
probably benign
0.032
0.090
phenotype
2016-06-15
53
453051
Tdp2
0.762
R5044
G1
65
Y
13
24831826 (GRCm38)
R32Q
G
A
missense
Het
probably benign
0.001
0.090
phenotype
2017-01-25
54
394248
Tgfbr3
1.000
R5044
G1
225
Y
5
107136929 (GRCm38)
V618A
A
G
missense
Het
possibly damaging
0.882
0.201
phenotype
2016-06-15
55
394259
Tmc3
0.000
R5044
G1
225
Y
7
83609118 (GRCm38)
P439S
C
T
missense
Het
probably benign
0.001
0.090
2016-06-15
56
394286
Tnxb
0.000
R5044
G1
225
Y
17
34717483 (GRCm38)
D2740V
A
T
missense
Het
probably damaging
0.999
0.647
phenotype
2016-06-15
57
394264
Tspyl4
0.091
R5044
G1
225
Y
10
34297937 (GRCm38)
T142A
A
G
missense
Het
probably benign
0.000
0.090
2016-06-15
58
394232
Ttn
1.000
R5044
G1
225
Y
2
76880441 (GRCm38)
T
C
intron
Het
probably benign
0.116
phenotype
2016-06-15
59
394234
Tubgcp4
1.000
R5044
G1
225
Y
2
121173580 (GRCm38)
L34P
T
C
missense
Het
probably damaging
1.000
0.876
phenotype
2016-06-15
60
394278
Tubgcp6
0.964
R5044
G1
225
Y
15
89099545 (GRCm38)
G
T
unclassified
Het
probably benign
phenotype
2016-06-15
61
394271
Unc79
1.000
R5044
G1
225
Y
12
103112703 (GRCm38)
V1690E
T
A
missense
Het
probably benign
0.324
0.093
phenotype
2016-06-15
62
453047
Vps4b
0.275
R5044
G1
74
Y
1
106796418 (GRCm38)
T
C
splice site
3 bp
Het
probably null
0.976
phenotype
2017-01-25
63
394283
Wtap
1.000
R5044
G1
225
Y
17
12967638 (GRCm38)
S341P
A
G
missense
Het
possibly damaging
0.473
0.088
phenotype
2016-06-15
64
394268
Wwc1
0.000
R5044
G1
225
Y
11
35883345 (GRCm38)
T363A
T
C
missense
Het
probably benign
0.450
0.076
phenotype
2016-06-15
65
394243
Zbtb8a
0.181
R5044
G1
225
Y
4
129360500 (GRCm38)
T67M
G
A
missense
Het
probably damaging
0.999
0.647
2016-06-15
66
394257
Zfp865
0.126
R5044
G1
225
Y
7
5034669 (GRCm38)
T
C
intron
Het
probably benign
0.090
2016-06-15
[records 1 to 66 of 66]