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Incidental Mutations
52
incidental mutations are currently displayed, and affect
52
genes.
9
are Possibly Damaging.
19
are Probably Damaging.
17
are Probably Benign.
6
are Probably Null.
3
create premature stop codons.
1
are critical splice junction mutations.
Mutations in Coding Regions/Splice Sites Identified by Next-Gen Sequencing
[records 1 to 52 of 52]
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
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
326101
Acer2
0.207
R4384
G1
182
Y
4
86874568
V27E
T
A
missense
Het
possibly damaging
0.742
0.184
phenotype
07/06/2015
2
326090
Adam23
1.000
R4384
G1
225
Y
1
63566628
Y624H
T
C
missense
Het
probably damaging
1.000
0.901
phenotype
07/06/2015
3
326115
Arhgef10
0.000
R4384
G1
182
Y
8
14930157
C132*
T
A
nonsense
Het
probably null
0.976
phenotype
07/06/2015
4
326136
Boc
0.000
R4384
G1
225
Y
16
44491182
L726H
A
T
missense
Het
probably damaging
1.000
0.730
phenotype
07/06/2015
5
326123
Brip1
0.000
R4384
G1
225
Y
11
86148429
D426E
A
T
missense
Het
possibly damaging
0.705
0.059
phenotype
07/06/2015
6
326105
Cadps2
0.000
R4384
G1
225
Y
6
23412988
Q654L
T
A
missense
Het
probably benign
0.183
0.058
phenotype
07/06/2015
7
386396
Calr3
0.092
R4384
G1
225
Y
8
72428164
D120V
T
A
missense
Het
probably damaging
1.000
0.719
phenotype
05/24/2016
8
326129
Cntnap3
0.061
R4384
G1
225
Y
13
64748460
Y1067H
A
G
missense
Het
probably damaging
1.000
0.186
phenotype
07/06/2015
9
326118
Csnk1g1
0.157
R4384
G1
225
Y
9
66019908
V119A
T
C
missense
Het
probably damaging
0.999
0.100
phenotype
07/06/2015
10
326114
Ddias
0.000
R4384
G1
225
Y
7
92858223
T828I
G
A
missense
Het
probably damaging
0.976
0.647
07/06/2015
11
326100
Dennd4c
1.000
R4384
G1
225
Y
4
86811450
Y763C
A
G
missense
Het
probably damaging
1.000
0.217
07/06/2015
12
326137
Dscam
1.000
R4384
G1
225
Y
16
96709216
I948F
T
A
missense
Het
probably damaging
0.994
0.245
phenotype
07/06/2015
13
326113
E030018B13Rik
0.076
R4384
G1
176
Y
7
63919393
A
G
intron
Het
probably benign
0.090
07/06/2015
14
326112
E2f8
0.000
R4384
G1
225
Y
7
48867099
T844I
G
A
missense
Het
possibly damaging
0.929
0.112
phenotype
07/06/2015
15
326110
Eps8
0.363
R4384
G1
225
Y
6
137499592
H603L
T
A
missense
Het
probably benign
0.298
0.072
phenotype
07/06/2015
16
326092
Esrrg
1.000
R4384
G1
225
Y
1
188043711
C122Y
G
A
missense
Het
probably damaging
0.995
0.946
phenotype
07/06/2015
17
326093
Frmd4a
0.169
R4384
G1
225
Y
2
4594563
R467*
C
T
nonsense
Het
probably null
0.976
phenotype
07/06/2015
18
326094
Gad2
0.000
R4384
G1
225
Y
2
22685410
V509I
G
A
missense
Het
probably benign
0.000
0.090
phenotype
07/06/2015
19
326116
Gpat4
0.490
R4384
G1
225
Y
8
23174586
I446T
A
G
missense
Het
probably benign
0.054
0.104
phenotype
07/06/2015
20
326091
Klhl12
0.000
R4384
G1
225
Y
1
134487654
D435E
T
G
missense
Het
probably damaging
0.998
0.647
phenotype
07/06/2015
21
386399
Luc7l
0.224
R4384
G1
225
Y
17
26279962
T
C
splice site
Het
probably benign
0.178
phenotype
05/24/2016
22
326138
March2
0.098
R4384
G1
225
Y
17
33696193
M142I
C
A
missense
Het
probably benign
0.338
0.121
phenotype
07/06/2015
23
326134
Marf1
0.186
R4384
G1
225
Y
16
14142641
Y513F
T
A
missense
Het
possibly damaging
0.601
0.066
phenotype
07/06/2015
24
386397
Mdm2
1.000
R4384
G1
218
Y
10
117696439
D114G
T
C
missense
Het
possibly damaging
0.666
0.069
phenotype
05/24/2016
25
326124
Med1
1.000
R4384
G1
225
Y
11
98152862
G
A
unclassified
Het
probably benign
0.090
phenotype
07/06/2015
26
326121
Meikin
0.126
R4384
G1
225
Y
11
54417787
Q404*
C
T
nonsense
Het
probably null
0.958
phenotype
07/06/2015
27
326132
Myh9
1.000
R4384
G1
225
Y
15
77791712
A
T
splice site
Het
probably benign
phenotype
07/06/2015
28
326127
Mylip
0.000
R4384
G1
135
Y
13
45389958
M1T
T
C
start codon destroyed
Het
probably null
0.948
0.929
phenotype
07/06/2015
29
326125
Ncapg2
1.000
R4384
G1
225
Y
12
116439877
T
C
critical splice donor site
2 bp
Het
probably null
0.951
phenotype
07/06/2015
30
326098
Nmd3
0.966
R4384
G1
225
Y
3
69724398
T
C
splice site
Het
probably benign
phenotype
07/06/2015
31
326102
Nwd2
0.121
R4384
G1
225
Y
5
63806571
L1166H
T
A
missense
Het
probably damaging
1.000
0.507
07/06/2015
32
326096
Olfr341
0.081
R4384
G1
225
Y
2
36479998
L44P
A
G
missense
Het
probably damaging
1.000
0.719
phenotype
07/06/2015
33
326117
Olfr912
0.229
R4384
G1
225
Y
9
38582053
Y259H
T
C
missense
Het
probably damaging
1.000
0.647
phenotype
07/06/2015
34
326135
Rubcn
0.928
R4384
G1
225
Y
16
32856902
I71T
A
G
missense
Het
probably damaging
0.964
0.207
phenotype
07/06/2015
35
326099
Rwdd3
1.000
R4384
G1
225
Y
3
121158757
T
C
intron
Het
probably benign
0.090
07/06/2015
36
326126
Ryr2
1.000
R4384
G1
225
Y
13
11605233
E3826G
T
C
missense
Het
probably damaging
0.987
0.239
phenotype
07/06/2015
37
326103
Sdad1
0.965
R4384
G1
225
Y
5
92298257
Q273R
T
C
missense
Het
probably benign
0.008
0.060
07/06/2015
38
326130
Sdha
1.000
R4384
G1
225
Y
13
74326985
I579K
A
T
missense
Het
possibly damaging
0.887
0.179
phenotype
07/06/2015
39
326128
Sema4d
0.000
R4384
G1
225
Y
13
51702883
L771P
A
G
missense
Het
probably damaging
1.000
0.413
phenotype
07/06/2015
40
326104
Shroom3
1.000
R4384
G1
164
Y
5
92943086
V1151F
G
T
missense
Het
probably damaging
0.997
0.647
phenotype
07/06/2015
41
326107
Slc6a11
1.000
R4384
G1
225
Y
6
114247727
E624G
A
G
missense
Het
possibly damaging
0.467
0.092
phenotype
07/06/2015
42
326106
Tada3
1.000
R4384
G1
225
Y
6
113370379
R117S
G
T
missense
Het
probably damaging
1.000
0.840
phenotype
07/06/2015
43
326139
Tm9sf3
1.000
R4384
G1
225
Y
19
41247933
M130V
T
C
missense
Het
probably damaging
0.995
0.794
07/06/2015
44
326119
Trpc1
0.169
R4384
G1
225
Y
9
95732108
M34I
C
A
missense
Het
probably benign
0.131
0.091
phenotype
07/06/2015
45
326097
Trpc4ap
0.188
R4384
G1
225
Y
2
155640507
V521A
A
G
missense
Het
possibly damaging
0.853
0.064
07/06/2015
46
326120
Trpm2
0.218
R4384
G1
225
Y
10
77917725
V1315A
A
G
missense
Het
probably benign
0.444
0.193
phenotype
07/06/2015
47
326133
Tvp23a
0.062
R4384
G1
225
Y
16
10428682
S80P
A
G
missense
Het
probably benign
0.065
0.839
phenotype
07/06/2015
48
326131
Usp54
0.000
R4384
G1
225
Y
14
20550085
A
T
splice site
Het
probably null
0.976
07/06/2015
49
326108
Vmn2r27
0.065
R4384
G1
225
Y
6
124224156
Y281H
A
G
missense
Het
probably benign
0.054
0.090
07/06/2015
50
326109
Vwf
0.210
R4384
G1
225
Y
6
125655116
I37N
T
A
missense
Het
unknown
phenotype
07/06/2015
51
326111
Zfp329
0.000
R4384
G1
225
N
7
12811657
G
A
start gained
Het
probably benign
07/06/2015
52
326122
Zfp616
0.000
R4384
G1
225
Y
11
74083179
L91F
G
T
missense
Het
possibly damaging
0.944
0.177
07/06/2015
[records 1 to 52 of 52]