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Incidental Mutations
41
incidental mutations are currently displayed, and affect
41
genes.
10
are Possibly Damaging.
11
are Probably Damaging.
16
are Probably Benign.
3
are Probably Null.
0
create premature stop codons.
1
are critical splice junction mutations.
Mutations in Coding Regions/Splice Sites Identified by Next-Gen Sequencing
[records 1 to 41 of 41]
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
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
300223
Abtb2
0.000
IGL02605
2
103717257
Y992F
A
T
missense
Het
probably benign
0.000
04/16/2015
2
300238
Adgrg6
1.000
IGL02605
10
14467232
N324Y
T
A
missense
Het
probably damaging
1.000
phenotype
04/16/2015
3
300220
Ampd3
0.000
IGL02605
7
110795758
F305L
T
C
missense
Het
probably benign
0.001
phenotype
04/16/2015
4
300253
Ankrd35
0.000
IGL02605
3
96681072
A
G
splice site
4 bp
Het
probably null
04/16/2015
5
300239
Api5
0.901
IGL02605
2
94429719
I64T
A
G
missense
Het
possibly damaging
0.878
phenotype
04/16/2015
6
300229
Arhgap21
0.291
IGL02605
2
20855588
I1165T
A
G
missense
Het
probably damaging
1.000
phenotype
04/16/2015
7
300249
Bdp1
1.000
IGL02605
13
100078115
T
C
critical splice acceptor site
Het
probably null
phenotype
04/16/2015
8
300218
Capn3
0.275
IGL02605
2
120496037
I570N
T
A
missense
Het
probably damaging
0.984
phenotype
04/16/2015
9
300234
Catsperg2
0.124
IGL02605
7
29719565
H232R
T
C
missense
Het
possibly damaging
0.711
04/16/2015
10
300228
Clcn7
1.000
IGL02605
17
25146818
L156P
T
C
missense
Het
possibly damaging
0.598
phenotype
04/16/2015
11
300232
Cpa3
0.000
IGL02605
3
20222212
V286F
C
A
missense
Het
probably benign
0.154
phenotype
04/16/2015
12
300247
Csrnp3
0.179
IGL02605
2
66022809
C527Y
G
A
missense
Het
probably damaging
0.996
phenotype
04/16/2015
13
300246
Dock5
0.584
IGL02605
14
67828438
V372E
A
T
missense
Het
probably benign
0.177
phenotype
04/16/2015
14
300227
Elmo1
0.000
IGL02605
13
20605202
L696P
T
C
missense
Het
probably damaging
1.000
phenotype
04/16/2015
15
300252
Fam91a1
0.000
IGL02605
15
58431196
T
C
splice site
Het
probably benign
phenotype
04/16/2015
16
300233
Gm12695
0.069
IGL02605
4
96762751
D155V
T
A
missense
Het
probably null
0.917
04/16/2015
17
300244
Hspa4l
0.270
IGL02605
3
40781623
I559V
A
G
missense
Het
probably benign
0.204
phenotype
04/16/2015
18
300251
Kdm1a
1.000
IGL02605
4
136551037
G
T
unclassified
Het
probably benign
phenotype
04/16/2015
19
300214
Lrrc8d
0.000
IGL02605
5
105826817
A
T
intron
Het
noncoding transcript
04/16/2015
20
300235
Minpp1
0.000
IGL02605
19
32498415
Y316F
A
T
missense
Het
possibly damaging
0.573
phenotype
04/16/2015
21
300254
Neto2
0.186
IGL02605
8
85663435
T
C
splice site
Het
probably benign
phenotype
04/16/2015
22
300241
Nrxn2
0.000
IGL02605
19
6450580
D277E
T
A
missense
Het
probably benign
0.022
phenotype
04/16/2015
23
300248
Ola1
0.731
IGL02605
2
73142300
A
G
splice site
Het
probably benign
phenotype
04/16/2015
24
300216
Olfr1298
0.131
IGL02605
2
111645505
V164A
A
G
missense
Het
probably benign
0.001
phenotype
04/16/2015
25
300224
Olfr550
0.081
IGL02605
7
102579395
I300T
T
C
missense
Het
probably damaging
0.997
phenotype
04/16/2015
26
300217
Olfr893
0.064
IGL02605
9
38209236
M61K
T
A
missense
Het
probably damaging
0.986
phenotype
04/16/2015
27
300221
Pam
1.000
IGL02605
1
97840339
V722A
A
G
missense
Het
possibly damaging
0.847
phenotype
04/16/2015
28
300243
Pfdn6
0.965
IGL02605
17
33939103
Y90C
T
C
missense
Het
probably benign
0.016
phenotype
04/16/2015
29
300242
Pkhd1
0.146
IGL02605
1
20550902
H844L
T
A
missense
Het
possibly damaging
0.660
phenotype
04/16/2015
30
300236
Plk5
0.000
IGL02605
10
80363062
V422M
G
A
missense
Het
probably damaging
0.989
04/16/2015
31
300225
Psmc1
1.000
IGL02605
12
100119127
R249L
G
T
missense
Het
probably damaging
0.998
phenotype
04/16/2015
32
300215
Ptpro
0.000
IGL02605
6
137380318
P269L
C
T
missense
Het
probably benign
0.023
phenotype
04/16/2015
33
300222
Ralgapa1
0.861
IGL02605
12
55712665
H1480Q
G
T
missense
Het
possibly damaging
0.900
phenotype
04/16/2015
34
300250
Rars
0.969
IGL02605
11
35824526
G
A
splice site
Het
probably benign
phenotype
04/16/2015
35
300230
Rbm48
0.899
IGL02605
5
3590600
R260C
G
A
missense
Het
possibly damaging
0.527
04/16/2015
36
300245
Smarcc1
1.000
IGL02605
9
110222000
H963Y
C
T
missense
Het
possibly damaging
0.856
phenotype
04/16/2015
37
300219
Spef2
0.099
IGL02605
15
9725152
E230G
T
C
missense
Het
probably damaging
0.993
phenotype
04/16/2015
38
300237
Spg11
0.219
IGL02605
2
122092260
S903P
A
G
missense
Het
probably benign
0.001
phenotype
04/16/2015
39
300240
Tas2r122
0.047
IGL02605
6
132711609
Y107C
T
C
missense
Het
probably damaging
0.990
04/16/2015
40
300226
Tpm3
1.000
IGL02605
3
90088446
N204K
C
A
missense
Het
probably benign
0.132
phenotype
04/16/2015
41
300231
Wdr36
1.000
IGL02605
18
32851991
I450T
T
C
missense
Het
possibly damaging
0.940
phenotype
04/16/2015
[records 1 to 41 of 41]