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Incidental Mutations
52
incidental mutations are currently displayed, and affect
51
genes.
5
are Possibly Damaging.
23
are Probably Damaging.
13
are Probably Benign.
9
are Probably Null.
2
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
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
487152
5031439G07Rik
0.095
R6131
G1
225.01
Y
15
84960592
W75R
A
T
missense
Het
probably damaging
1.000
0.966
10/10/2017
2
487131
Abca15
0.072
R6131
G1
225.01
Y
7
120340205
V274A
T
C
missense
Het
probably benign
0.025
0.090
10/10/2017
3
487159
Afg3l2
1.000
R6131
G1
225.01
Y
18
67421259
L458M
G
T
missense
Het
probably damaging
1.000
0.387
phenotype
10/10/2017
4
487134
Ap1m2
0.215
R6131
G1
225.01
Y
9
21296501
Y396C
T
C
missense
Het
probably damaging
1.000
0.914
phenotype
10/10/2017
5
487143
Apob
0.902
R6131
G1
225.01
Y
12
8015874
S405P
T
C
missense
Het
probably benign
0.168
0.090
phenotype
10/10/2017
6
487158
Arhgap26
0.000
R6131
G1
225.01
Y
18
39286585
G533*
G
T
nonsense
Het
probably null
0.976
phenotype
10/10/2017
7
487132
Atxn2l
0.929
R6131
G1
97.01
N
7
126503165
T
C
unclassified
Het
probably benign
0.090
phenotype
10/10/2017
8
487147
Ccdc88c
0.000
R6131
G1
225.01
Y
12
100941128
L995H
A
T
missense
Het
probably damaging
1.000
0.647
phenotype
10/10/2017
9
487160
Cep192
0.000
R6131
G1
225.01
Y
18
67837997
H1023R
A
G
missense
Het
possibly damaging
0.646
0.179
10/10/2017
10
487144
Cog5
0.920
R6131
G1
225.01
Y
12
31886221
M589K
T
A
missense
Het
possibly damaging
0.473
0.507
phenotype
10/10/2017
11
487121
Col25a1
0.104
R6131
G1
225.01
Y
3
130535465
P337Q
C
A
missense
Het
probably damaging
1.000
0.085
phenotype
10/10/2017
12
487129
Cyfip1
1.000
R6131
G1
225.01
Y
7
55873480
V51G
T
G
missense
Het
possibly damaging
0.789
0.094
phenotype
10/10/2017
13
487116
Dnah7b
0.159
R6131
G1
225.01
Y
1
46253466
I3004F
A
T
missense
Het
probably damaging
0.998
0.153
10/10/2017
14
487157
Dsg3
0.479
R6131
G1
225.01
Y
18
20538512
D758V
A
T
missense
Het
probably damaging
0.985
0.192
phenotype
10/10/2017
15
501817
Dsg3
0.479
R6131
G1
225.01
Y
18
20520477
A
G
splice site
Het
probably null
0.976
phenotype
12/04/2017
16
487146
Eml5
0.339
R6131
G1
225.01
Y
12
98861251
H573Q
A
T
missense
Het
probably damaging
0.994
0.082
10/10/2017
17
487126
Erp27
0.073
R6131
G1
225.01
Y
6
136908203
D199G
T
C
missense
Het
probably damaging
1.000
0.654
phenotype
10/10/2017
18
487150
Flnb
1.000
R6131
G1
225.01
Y
14
7894635
Y811C
A
G
missense
Het
possibly damaging
0.787
0.962
phenotype
10/10/2017
19
487124
G6pd2
0.000
R6131
G1
225.01
Y
5
61809250
S123C
A
T
missense
Het
probably benign
0.028
0.071
10/10/2017
20
487135
Gm17677
0.079
R6131
G1
225.01
Y
9
35741544
C27*
T
A
nonsense
Het
probably null
0.976
10/10/2017
21
487145
Gm1818
0.916
R6131
G1
225.01
Y
12
48555536
T
A
exon
Het
noncoding transcript
0.087
10/10/2017
22
506179
Gm29340
R6131
G1
22.03
Y
2
116968038
C
T
unclassified
Het
noncoding transcript
03/08/2018
23
487120
Gm8298
0.068
R6131
G1
225.01
Y
3
59868903
K165R
A
G
missense
Het
possibly damaging
0.759
0.260
10/10/2017
24
487139
Hcn2
0.000
R6131
G1
143.01
Y
10
79733908
G581W
G
T
missense
Het
probably damaging
1.000
0.974
phenotype
10/10/2017
25
487148
Hist1h2bf
0.205
R6131
G1
225.01
Y
13
23574136
C
A
unclassified
Het
probably benign
0.100
phenotype
10/10/2017
26
501816
Kidins220
1.000
R6131
G1
225.01
Y
12
24992314
T
C
splice site
6 bp
Het
probably null
0.976
phenotype
12/04/2017
27
487156
Lonp1
1.000
R6131
G1
225.01
Y
17
56614457
E926G
T
C
missense
Het
probably benign
0.013
0.170
phenotype
10/10/2017
28
487140
Lrp1
1.000
R6131
G1
225.01
Y
10
127560157
I2415V
T
C
missense
Het
probably benign
0.000
0.059
phenotype
10/10/2017
29
487123
Mmel1
0.192
R6131
G1
225.01
Y
4
154895018
H728Y
C
T
missense
Het
probably damaging
1.000
0.765
phenotype
10/10/2017
30
501814
Mmp10
0.100
R6131
G1
225.01
Y
9
7503632
A
G
splice site
3 bp
Het
probably null
0.976
phenotype
12/04/2017
31
487133
Myo16
0.380
R6131
G1
225.01
Y
8
10569877
I1476N
T
A
missense
Het
probably benign
0.000
0.090
phenotype
10/10/2017
32
487153
Nectin3
0.275
R6131
G1
225.01
Y
16
46395152
H76N
G
T
missense
Het
probably damaging
0.977
0.172
phenotype
10/10/2017
33
487151
Nov
0.165
R6131
G1
225.01
Y
15
54749360
D255G
A
G
missense
Het
probably benign
0.277
0.076
phenotype
10/10/2017
34
487119
Nphs2
0.121
R6131
G1
225.01
Y
1
156325951
R204Q
G
A
missense
Het
probably damaging
1.000
0.921
phenotype
10/10/2017
35
487154
Olfr194
0.061
R6131
G1
225.01
N
16
59119893
Y59C
T
C
missense
Het
probably damaging
1.000
0.647
phenotype
10/10/2017
36
487136
Olfr883
0.091
R6131
G1
217.47
Y
9
38026540
ATTGCTGTTT
ATTGCTGTTTGCTGTTT
frame shift
Het
probably null
0.976
phenotype
10/10/2017
37
487137
Olfr920
0.053
R6131
G1
225.01
Y
9
38756066
I126N
T
A
missense
Het
probably damaging
1.000
0.647
phenotype
10/10/2017
38
487141
Otx1
0.850
R6131
G1
225.01
Y
11
21999406
L24H
A
T
missense
Het
probably damaging
0.997
0.230
phenotype
10/10/2017
39
487142
Psme2b
0.149
R6131
G1
225.01
Y
11
48945925
D65G
T
C
missense
Het
probably damaging
0.960
0.647
phenotype
10/10/2017
40
487122
Rlf
1.000
R6131
G1
225.01
Y
4
121154975
K214E
T
C
missense
Het
probably damaging
1.000
0.244
phenotype
10/10/2017
41
487118
Rnasel
0.132
R6131
G1
225.01
Y
1
153754460
T241S
A
T
missense
Het
probably damaging
1.000
0.779
phenotype
10/10/2017
42
487125
Samd9l
0.000
R6131
G1
127.01
Y
6
3377252
G3A
C
G
missense
Het
probably benign
0.002
0.090
phenotype
10/10/2017
43
487117
Smg7
0.922
R6131
G1
225.01
Y
1
152845211
A
G
critical splice donor site
2 bp
Het
probably null
0.949
phenotype
10/10/2017
44
501813
Spag16
0.172
R6131
G1
138.01
Y
1
70725083
A
G
splice site
Het
probably null
0.976
phenotype
12/04/2017
45
487149
Spata31d1c
0.000
R6131
G1
225.01
Y
13
65035671
D342E
T
A
missense
Het
probably benign
0.105
0.090
10/10/2017
46
501815
Stab2
0.000
R6131
G1
223.01
Y
10
86883778
A
G
splice site
6 bp
Het
probably null
0.976
phenotype
12/04/2017
47
487138
Taar7b
0.144
R6131
G1
225.01
Y
10
24000717
Y260F
A
T
missense
Het
probably benign
0.205
0.075
10/10/2017
48
487115
Vcpip1
0.376
R6131
G1
225.01
Y
1
9747292
I289V
T
C
missense
Het
probably damaging
0.988
0.152
phenotype
10/10/2017
49
487127
Vmn2r39
0.107
R6131
G1
225.01
N
7
9014964
V791A
A
G
missense
Het
probably damaging
1.000
10/10/2017
50
487130
Vmn2r66
0.201
R6131
G1
225.01
Y
7
84995016
I729F
T
A
missense
Het
probably damaging
1.000
0.647
10/10/2017
51
487155
Vmn2r-ps130
0.126
R6131
G1
225.01
Y
17
23063655
A103V
C
T
missense
Het
probably benign
0.003
0.090
10/10/2017
52
487128
Zfp536
1.000
R6131
G1
225.01
Y
7
37569712
D93V
T
A
missense
Het
probably damaging
1.000
0.306
phenotype
10/10/2017
[records 1 to 52 of 52]