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Incidental Mutations
42
incidental mutations are currently displayed, and affect
42
genes.
7
are Possibly Damaging.
9
are Probably Damaging.
22
are Probably Benign.
4
are Probably Null.
1
create premature stop codons.
1
are critical splice junction mutations.
Mutations in Coding Regions/Splice Sites Identified by Next-Gen Sequencing
[records 1 to 42 of 42]
10
25
50
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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
8516
Aasdh
0.176
IGL00823
G1
5
76878534
T
C
unclassified
Het
probably benign
phenotype
12/06/2012
2
8573
Adam5
0.054
IGL00823
G1
8
24818742
E39G
T
C
missense
Het
probably benign
0.177
phenotype
12/06/2012
3
8847
Anapc7
0.962
IGL00823
G1
5
122433477
W205*
G
A
nonsense
Het
probably null
phenotype
12/06/2012
4
9028
Arhgap5
1.000
IGL00823
G1
12
52518742
T832I
C
T
missense
Het
possibly damaging
0.836
0.091
phenotype
12/06/2012
5
9032
Arhgef10
0.000
IGL00823
G1
8
14940378
T
A
unclassified
Het
probably benign
phenotype
12/06/2012
6
9116
Atg5
1.000
IGL00823
G1
10
44363044
T274A
A
G
missense
Het
probably benign
0.002
phenotype
12/06/2012
7
9196
Baiap2l2
0.000
IGL00823
G1
15
79284565
G
T
unclassified
Het
probably benign
phenotype
12/06/2012
8
9298
Brap
1.000
IGL00823
G1
5
121665227
M146K
T
A
missense
Het
probably damaging
0.998
phenotype
12/06/2012
9
9306
Brpf1
0.966
IGL00823
G1
6
113321886
S1074P
T
C
missense
Het
probably benign
0.006
phenotype
12/06/2012
10
9368
Camta1
0.596
IGL00823
G1
4
151084601
I231R
A
C
missense
Het
probably benign
0.016
phenotype
12/06/2012
11
9434
Ccdc15
0.102
IGL00823
G1
9
37320413
G205D
C
T
missense
Het
probably benign
0.014
12/06/2012
12
9504
Cd6
0.071
IGL00823
G1
19
10796394
G
T
splice site
Het
probably benign
phenotype
12/06/2012
13
9538
Cdh17
0.083
IGL00823
G1
4
11783412
S219R
T
G
missense
Het
possibly damaging
0.777
phenotype
12/06/2012
14
9654
Cgn
1.000
IGL00823
G1
3
94767209
R873W
G
A
missense
Het
probably damaging
1.000
phenotype
12/06/2012
15
9924
Ctnna3
0.256
IGL00823
G1
10
63537543
P41L
C
T
missense
Het
possibly damaging
0.682
phenotype
12/06/2012
16
10194
Dmbt1
0.342
IGL00823
G1
7
131058158
W484R
T
C
missense
Het
probably benign
0.259
phenotype
12/06/2012
17
10202
Dmd
0.775
IGL00823
G1
X
84425813
A
G
splice site
4 bp
Het
probably null
phenotype
12/06/2012
18
10220
Dnah17
0.000
IGL00823
G1
11
118047161
V3347I
C
T
missense
Het
probably benign
0.221
phenotype
12/06/2012
19
10622
Fam122b
0.086
IGL00823
G1
X
53245331
C222S
A
T
missense
Het
probably damaging
0.999
phenotype
12/06/2012
20
10768
Fgd5
0.178
IGL00823
G1
6
91988459
S400T
T
A
missense
Het
possibly damaging
0.633
phenotype
12/06/2012
21
11640
Kitl
0.362
IGL00823
G1
10
100087344
C
A
splice site
Het
probably benign
phenotype
12/06/2012
22
11722
Lamc3
0.000
IGL00823
G1
2
31918521
D763V
A
T
missense
Het
probably damaging
0.998
phenotype
12/06/2012
23
11752
Lgmn
0.000
IGL00823
G1
12
102398176
T
C
splice site
Het
probably benign
phenotype
12/06/2012
24
11794
Lpcat2
0.089
IGL00823
G1
8
92864970
W81G
T
G
missense
Het
possibly damaging
0.899
phenotype
12/06/2012
25
12154
Myh13
0.123
IGL00823
G1
11
67355947
I1165V
A
G
missense
Het
probably benign
0.005
12/06/2012
26
12330
Nf1
1.000
IGL00823
G1
11
79565517
D599G
A
G
missense
Het
probably damaging
0.997
phenotype
12/06/2012
27
12350
Nin
0.000
IGL00823
G1
12
70014793
N2099S
T
C
missense
Het
probably benign
0.015
phenotype
12/06/2012
28
12366
Nlrc4
0.131
IGL00823
G1
17
74447990
D77G
T
C
missense
Het
probably benign
0.011
phenotype
12/06/2012
29
12887
Otub1
1.000
IGL00823
G1
19
7204051
A
G
splice site
Het
probably benign
12/06/2012
30
12898
Pah
0.000
IGL00823
G1
10
87570331
Y174C
A
G
missense
Het
probably null
1.000
phenotype
12/06/2012
31
12904
Papd4
0.389
IGL00823
G1
13
93186397
T15A
T
C
missense
Het
probably benign
0.014
phenotype
12/06/2012
32
13773
Rbbp5
0.961
IGL00823
G1
1
132489706
V88I
G
A
missense
Het
probably damaging
0.999
phenotype
12/06/2012
33
13928
Scn1a
1.000
IGL00823
G1
2
66324935
R560H
C
T
missense
Het
probably benign
0.042
phenotype
12/06/2012
34
14180
Snx5
0.276
IGL00823
G1
2
144255565
I217V
T
C
missense
Het
probably benign
0.000
phenotype
12/06/2012
35
14321
Syne2
0.334
IGL00823
G1
12
75989242
S3769P
T
C
missense
Het
probably damaging
0.980
phenotype
12/06/2012
36
10672
Tmem255b
0.077
IGL00823
G1
8
13457054
M261T
T
C
missense
Het
probably benign
0.000
12/06/2012
37
14549
Top3b
0.410
IGL00823
G1
16
16887622
I417T
T
C
missense
Het
probably damaging
0.968
phenotype
12/06/2012
38
14619
Tspan2
0.000
IGL00823
G1
3
102758233
T
C
critical splice donor site
2 bp
Het
probably null
phenotype
12/06/2012
39
14647
Ttn
1.000
IGL00823
G1
2
76709713
T34310A
T
C
missense
Het
possibly damaging
0.831
phenotype
12/06/2012
40
14728
Ush2a
0.524
IGL00823
G1
1
188911443
C4334Y
G
A
missense
Het
possibly damaging
0.614
phenotype
12/06/2012
41
14832
Wdpcp
0.903
IGL00823
G1
11
21659995
D21G
A
G
missense
Het
probably damaging
0.999
phenotype
12/06/2012
42
11924
Yy2
IGL00823
G1
X
157568211
D186E
A
C
missense
Het
probably benign
0.000
phenotype
12/06/2012
[records 1 to 42 of 42]