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Incidental Mutations
59
incidental mutations are currently displayed, and affect
59
genes.
8
are Possibly Damaging.
19
are Probably Damaging.
20
are Probably Benign.
12
are Probably Null.
3
create premature stop codons.
5
are critical splice junction mutations.
Mutations in Coding Regions/Splice Sites Identified by Next-Gen Sequencing
[records 1 to 59 of 59]
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
25471
Abca13
0.000
R0317
G1
225
N
11
9293459 (GRCm38)
V1774A
T
C
missense
Het
probably damaging
0.997
phenotype
2013-04-16
2
25457
Adam34
0.080
R0317
G1
225
N
8
43652251 (GRCm38)
P119L
G
A
missense
Het
probably benign
0.144
2013-04-16
3
25454
Ap3b2
0.091
R0317
G1
201
N
7
81463681 (GRCm38)
T
C
splice site
3 bp
Het
probably null
phenotype
2013-04-16
4
25455
Arfip2
0.000
R0317
G1
225
N
7
105637223 (GRCm38)
T124M
G
A
missense
Het
probably damaging
0.999
0.248
2013-04-16
5
25431
Arhgef26
0.173
R0317
G1
225
N
3
62423544 (GRCm38)
S560P
T
C
missense
Het
probably damaging
0.992
0.096
phenotype
2013-04-16
6
98822
Bcl11a
1.000
R0317
G1
225
N
11
24172697 (GRCm38)
A
T
critical splice acceptor site
Het
probably null
phenotype
2014-01-10
7
25426
Cab39
0.964
R0317
G1
225
N
1
85849160 (GRCm38)
E322G
A
G
missense
Het
probably damaging
1.000
2013-04-16
8
25441
Cad
0.966
R0317
G1
225
N
5
31072321 (GRCm38)
P1382Q
C
A
missense
Het
probably benign
0.013
phenotype
2013-04-16
9
25442
Cc2d2a
0.900
R0317
G1
225
N
5
43706901 (GRCm38)
T
C
critical splice donor site
2 bp
Het
probably null
phenotype
2013-04-16
10
25439
Cela2a
0.097
R0317
G1
225
N
4
141821700 (GRCm38)
A
T
critical splice donor site
2 bp
Het
probably null
phenotype
2013-04-16
11
25462
Ces1e
0.000
R0317
G1
225
N
8
93224039 (GRCm38)
I38S
A
C
missense
Het
probably benign
0.025
phenotype
2013-04-16
12
25463
Ces1f
0.089
R0317
G1
225
N
8
93263391 (GRCm38)
F364I
A
T
missense
Het
probably benign
0.053
2013-04-16
13
25429
Chgb
0.076
R0317
G1
225
N
2
132793811 (GRCm38)
T558A
A
G
missense
Het
probably benign
0.057
phenotype
2013-04-16
14
25446
Cnpy4
0.112
R0317
G1
225
N
5
138192812 (GRCm38)
Q217*
C
T
nonsense
Het
probably null
phenotype
2013-04-16
15
25494
Col4a3bp
1.000
R0317
G1
225
N
13
96634121 (GRCm38)
R487*
C
T
nonsense
Het
probably null
phenotype
2013-04-16
16
25459
Crlf1
0.778
R0317
G1
225
N
8
70498599 (GRCm38)
T43A
A
G
missense
Het
probably benign
0.000
phenotype
2013-04-16
17
25425
Dnah7b
0.135
R0317
G1
224
N
1
46134656 (GRCm38)
M707K
T
A
missense
Het
probably damaging
0.996
2013-04-16
18
25500
Ets2
1.000
R0317
G1
225
N
16
95712149 (GRCm38)
S123N
G
A
missense
Het
probably damaging
0.995
phenotype
2013-04-16
19
25473
Fam196b
0.085
R0317
G1
225
N
11
34402826 (GRCm38)
D289E
C
A
missense
Het
possibly damaging
0.941
2013-04-16
20
25447
Fry
0.580
R0317
G1
225
N
5
150471468 (GRCm38)
F304S
T
C
missense
Het
probably damaging
0.995
2013-04-16
21
25460
Gadd45gip1
1.000
R0317
G1
225
N
8
84834116 (GRCm38)
R120H
G
A
missense
Het
probably benign
0.000
phenotype
2013-04-16
22
25504
Gbf1
1.000
R0317
G1
225
N
19
46254020 (GRCm38)
T96A
A
G
missense
Het
probably benign
0.000
phenotype
2013-04-16
23
25451
Ggn
1.000
R0317
G1
225
N
7
29171090 (GRCm38)
M1K
T
A
start codon destroyed
Het
probably null
phenotype
2013-04-16
24
65261
Gm5239
R0317
G1
127
N
18
35536916 (GRCm38)
T112A
A
G
missense
Het
probably benign
0.007
2013-08-08
25
25469
Kif1bp
1.000
R0317
G1
188
N
10
62578082 (GRCm38)
A
T
splice site
2169 bp
Het
probably null
phenotype
2013-04-16
26
25498
Lrrc15
0.000
R0317
G1
225
N
16
30273743 (GRCm38)
H259Q
A
T
missense
Het
probably benign
0.000
2013-04-16
27
25452
Lysmd4
0.056
R0317
G1
225
N
7
67226297 (GRCm38)
Y236C
A
G
missense
Het
probably damaging
1.000
2013-04-16
28
25450
Med29
0.967
R0317
G1
214
N
7
28386859 (GRCm38)
T175A
T
C
missense
Het
possibly damaging
0.477
phenotype
2013-04-16
29
65259
Mfsd12
0.716
R0317
G1
148
N
10
81357799 (GRCm38)
D68Y
G
T
missense
Het
probably damaging
1.000
phenotype
2013-08-08
30
25475
Myh1
0.000
R0317
G1
225
N
11
67217512 (GRCm38)
L1308P
T
C
missense
Het
probably damaging
0.999
phenotype
2013-04-16
31
25440
Nphp4
0.106
R0317
G1
218
N
4
152551931 (GRCm38)
T
A
critical splice donor site
2 bp
Het
probably null
phenotype
2013-04-16
32
25465
Olfr948
0.056
R0317
G1
225
N
9
39319461 (GRCm38)
I51T
A
G
missense
Het
probably benign
0.321
0.090
phenotype
2013-04-16
33
25428
Pdhx
1.000
R0317
G1
225
N
2
103028280 (GRCm38)
V393A
A
G
missense
Het
probably benign
0.044
0.130
phenotype
2013-04-16
34
25502
Pgm5
0.237
R0317
G1
225
N
19
24824399 (GRCm38)
I155T
A
G
missense
Het
possibly damaging
0.551
phenotype
2013-04-16
35
25464
Pgr
0.519
R0317
G1
225
N
9
8965022 (GRCm38)
I889F
A
T
missense
Het
probably benign
0.451
phenotype
2013-04-16
36
25438
Phactr4
1.000
R0317
G1
225
N
4
132386930 (GRCm38)
K51I
T
A
missense
Het
probably damaging
1.000
phenotype
2013-04-16
37
25486
Pum2
0.000
R0317
G1
225
N
12
8728754 (GRCm38)
I468K
T
A
missense
Het
possibly damaging
0.945
0.179
phenotype
2013-04-16
38
25467
Rab11a
1.000
R0317
G1
225
N
9
64725553 (GRCm38)
S24P
A
G
missense
Het
probably damaging
0.988
phenotype
2013-04-16
39
25436
Rasef
0.098
R0317
G1
225
N
4
73748562 (GRCm38)
Q160R
T
C
missense
Het
probably damaging
0.998
phenotype
2013-04-16
40
25461
Rbl2
1.000
R0317
G1
225
N
8
91087144 (GRCm38)
D339G
A
G
missense
Het
probably benign
0.001
phenotype
2013-04-16
41
25482
Recql5
0.343
R0317
G1
225
N
11
115894673 (GRCm38)
S666P
A
G
missense
Het
probably benign
0.000
0.090
phenotype
2013-04-16
42
25444
Rfc1
1.000
R0317
G1
225
N
5
65296052 (GRCm38)
A
T
splice site
Het
probably null
phenotype
2013-04-16
43
25445
Scarb1
0.000
R0317
G1
225
N
5
125289692 (GRCm38)
V59A
A
G
missense
Het
probably damaging
0.991
phenotype
2013-04-16
44
25476
Slc2a4
0.609
R0317
G1
225
N
11
69946356 (GRCm38)
V85M
C
T
missense
Het
probably damaging
1.000
phenotype
2013-04-16
45
25448
Slc6a12
0.000
R0317
G1
225
N
6
121358625 (GRCm38)
I291V
A
G
missense
Het
possibly damaging
0.803
phenotype
2013-04-16
46
25453
Slco3a1
0.134
R0317
G1
225
N
7
74504426 (GRCm38)
Y104D
A
C
missense
Het
probably damaging
1.000
2013-04-16
47
25478
Suz12
1.000
R0317
G1
225
N
11
79999078 (GRCm38)
D13E
T
A
missense
Het
probably damaging
0.997
phenotype
2013-04-16
48
25443
Tlr1
0.000
R0317
G1
225
N
5
64925967 (GRCm38)
C422*
G
T
nonsense
Het
probably null
phenotype
2013-04-16
49
25427
Tmco1
0.371
R0317
G1
176
N
1
167325893 (GRCm38)
V114A
T
C
missense
Het
probably damaging
0.962
phenotype
2013-04-16
50
25423
Trpa1
0.122
R0317
G1
225
N
1
14881632 (GRCm38)
T948A
T
C
missense
Het
probably benign
0.026
phenotype
2013-04-16
51
25456
Tub
0.000
R0317
G1
221
N
7
109020927 (GRCm38)
N93Y
A
T
missense
Het
probably damaging
0.999
0.443
phenotype
2013-04-16
52
25458
Ufsp2
1.000
R0317
G1
225
N
8
45992233 (GRCm38)
G
A
critical splice donor site
1 bp
Het
probably null
phenotype
2013-04-16
53
25433
Veph1
0.000
R0317
G1
225
N
3
66171975 (GRCm38)
D373G
T
C
missense
Het
probably benign
0.000
phenotype
2013-04-16
54
25492
Vmn1r206
0.082
R0317
G1
225
N
13
22620960 (GRCm38)
S26P
A
G
missense
Het
possibly damaging
0.860
2013-04-16
55
25432
Vmn2r1
0.118
R0317
G1
225
N
3
64081819 (GRCm38)
S60P
T
C
missense
Het
possibly damaging
0.921
0.179
2013-04-16
56
25484
Wdcp
0.147
R0317
G1
225
N
12
4851583 (GRCm38)
S480G
A
G
missense
Het
probably benign
0.057
0.090
2013-04-16
57
25480
Wnk4
0.416
R0317
G1
225
N
11
101268804 (GRCm38)
S612P
T
C
missense
Het
probably benign
0.015
phenotype
2013-04-16
58
25496
Zfp503
1.000
R0317
G1
225
N
14
21986459 (GRCm38)
K130E
T
C
missense
Het
probably benign
0.018
2013-04-16
59
25435
Zkscan16
0.084
R0317
G1
225
N
4
58957602 (GRCm38)
C628Y
G
A
missense
Het
possibly damaging
0.864
2013-04-16
[records 1 to 59 of 59]