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Incidental Mutations
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Incidental Mutations
70
incidental mutations are currently displayed, and affect
69
genes.
9
are Possibly Damaging.
29
are Probably Damaging.
22
are Probably Benign.
10
are Probably Null.
3
create premature stop codons.
2
are critical splice junction mutations.
Mutations in Coding Regions/Splice Sites Identified by Next-Gen Sequencing
[records 1 to 70 of 70]
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
384203
2810021J22Rik
0.063
R4968
G1
225
N
11
58878790
K53*
A
T
nonsense
Het
probably null
04/27/2016
2
384230
4921513D11Rik
R4968
G1
225
N
17
79628222
S255P
T
C
missense
Het
probably benign
0.098
04/27/2016
3
384209
Ace
1.000
R4968
G1
225
N
11
105981853
N367S
A
G
missense
Het
possibly damaging
0.928
phenotype
04/27/2016
4
482183
Agl
0.169
R4968
G1
225
N
3
116788526
N282K
A
T
missense
Het
probably benign
0.311
phenotype
06/29/2017
5
384235
Ahnak
0.272
R4968
G1
225
N
19
9015100
P4583T
C
A
missense
Het
probably damaging
1.000
phenotype
04/27/2016
6
384158
Alpi
0.097
R4968
G1
225
N
1
87101525
D4G
T
C
missense
Het
probably benign
0.055
phenotype
04/27/2016
7
384174
Anks6
1.000
R4968
G1
162
N
4
47030795
G601S
C
T
missense
Het
probably damaging
0.999
0.647
phenotype
04/27/2016
8
384170
Aplnr
1.000
R4968
G1
225
N
2
85136945
Y105H
T
C
missense
Het
probably damaging
1.000
phenotype
04/27/2016
9
384199
Arhgap9
0.145
R4968
G1
225
N
10
127327006
R395K
G
A
missense
Het
possibly damaging
0.795
phenotype
04/27/2016
10
384187
Asah1
1.000
R4968
G1
225
N
8
41354030
M119T
A
G
missense
Het
possibly damaging
0.894
phenotype
04/27/2016
11
384200
Atp5b
1.000
R4968
G1
225
N
10
128083987
F75L
T
C
missense
Het
probably damaging
1.000
phenotype
04/27/2016
12
384231
B4galt6
0.173
R4968
G1
225
N
18
20727969
N75K
G
T
missense
Het
possibly damaging
0.815
phenotype
04/27/2016
13
384191
Bco1
0.126
R4968
G1
225
N
8
117131094
H486L
A
T
missense
Het
probably benign
0.005
phenotype
04/27/2016
14
384236
Btaf1
0.964
R4968
G1
147
N
19
36969951
L480Q
T
A
missense
Het
probably null
0.709
phenotype
04/27/2016
15
384171
Ccdc34
0.062
R4968
G1
225
N
2
110040733
G
T
critical splice donor site
1 bp
Het
probably null
04/27/2016
16
384195
Ccdc36
0.094
R4968
G1
225
N
9
108412514
V170M
C
T
missense
Het
probably benign
0.113
04/27/2016
17
384160
Cdh19
0.000
R4968
G1
225
N
1
110925228
S326G
T
C
missense
Het
probably benign
0.084
phenotype
04/27/2016
18
384182
Cep89
0.192
R4968
G1
225
N
7
35409630
D178G
A
G
missense
Het
possibly damaging
0.904
04/27/2016
19
384220
Cyp11b2
0.066
R4968
G1
225
N
15
74854005
A
T
splice site
Het
probably null
phenotype
04/27/2016
20
384227
Cyp21a1
0.451
R4968
G1
225
N
17
34803409
I157T
A
G
missense
Het
possibly damaging
0.934
phenotype
04/27/2016
21
384225
Dcbld2
0.000
R4968
G1
225
N
16
58424711
D116G
A
G
missense
Het
probably damaging
1.000
phenotype
04/27/2016
22
384210
Ddx5
1.000
R4968
G1
225
N
11
106784127
Q377R
T
C
missense
Het
probably damaging
1.000
phenotype
04/27/2016
23
384193
Deup1
0.000
R4968
G1
225
N
9
15592428
D279G
T
C
missense
Het
probably damaging
0.991
04/27/2016
24
384188
F11
0.089
R4968
G1
225
N
8
45245733
A458V
G
A
missense
Het
probably benign
0.188
phenotype
04/27/2016
25
384176
Fhad1
0.074
R4968
G1
225
N
4
141918307
G326W
C
A
missense
Het
probably damaging
0.996
04/27/2016
26
384216
Fhit
0.838
R4968
G1
225
N
14
10421522
V26M
C
T
missense
Het
probably damaging
0.999
phenotype
04/27/2016
27
384175
Gjb5
0.099
R4968
G1
225
N
4
127356222
V43E
A
T
missense
Het
probably damaging
0.999
phenotype
04/27/2016
28
384186
Grtp1
0.000
R4968
G1
197
N
8
13192184
I75N
A
T
missense
Het
probably damaging
0.997
04/27/2016
29
384163
Hmcn1
0.000
R4968
G1
225
N
1
150657470
I3022T
A
G
missense
Het
possibly damaging
0.671
phenotype
04/27/2016
30
384228
Hsp90ab1
1.000
R4968
G1
225
N
17
45571036
T166A
T
C
missense
Het
probably benign
0.051
phenotype
04/27/2016
31
384161
Ikbke
0.000
R4968
G1
217
N
1
131275267
GCC
G
frame shift
Het
probably null
0.976
phenotype
04/27/2016
32
384214
Kcnk10
0.072
R4968
G1
225
N
12
98434902
I491V
T
C
missense
Het
probably benign
0.008
phenotype
04/27/2016
33
384180
Kcp
0.252
R4968
G1
213
N
6
29497629
C519*
A
T
nonsense
Het
probably null
phenotype
04/27/2016
34
384172
Lcmt2
0.094
R4968
G1
225
N
2
121139736
T69A
T
C
missense
Het
probably benign
0.003
phenotype
04/27/2016
35
384226
Lmf1
1.000
R4968
G1
225
N
17
25585618
Y90C
A
G
missense
Het
probably damaging
0.997
phenotype
04/27/2016
36
384223
Lpp
0.207
R4968
G1
184
N
16
24979314
D612G
A
G
missense
Het
probably damaging
1.000
phenotype
04/27/2016
37
384213
Lrfn5
0.088
R4968
G1
225
N
12
61839675
S83Y
C
A
missense
Het
probably damaging
1.000
0.841
phenotype
04/27/2016
38
384166
Lrp1b
0.000
R4968
G1
225
N
2
40702707
T
C
splice site
4 bp
Het
probably null
phenotype
04/27/2016
39
384167
Lrp1b
0.000
R4968
G1
225
N
2
41789062
C6Y
C
T
missense
Het
probably damaging
0.999
phenotype
04/27/2016
40
384177
Lrrc8c
0.000
R4968
G1
225
N
5
105607127
D256G
A
G
missense
Het
probably damaging
1.000
phenotype
04/27/2016
41
384184
Mphosph10
0.952
R4968
G1
225
N
7
64382908
Y478H
A
G
missense
Het
probably damaging
1.000
phenotype
04/27/2016
42
384207
Mpp2
0.000
R4968
G1
225
N
11
102064298
H167R
T
C
missense
Het
probably benign
0.314
phenotype
04/27/2016
43
384219
Mtss1
0.670
R4968
G1
225
N
15
58943918
S598P
A
G
missense
Het
probably damaging
1.000
phenotype
04/27/2016
44
384204
Myh10
1.000
R4968
G1
225
N
11
68793223
E1154G
A
G
missense
Het
probably damaging
0.999
phenotype
04/27/2016
45
384218
Myo10
0.000
R4968
G1
217
N
15
25808184
V1218A
T
C
missense
Het
probably damaging
1.000
phenotype
04/27/2016
46
482184
Myo19
0.167
R4968
G1
225
N
11
84901502
K599R
A
G
missense
Het
probably damaging
1.000
06/29/2017
47
384205
Neurl4
0.000
R4968
G1
225
N
11
69907308
M771T
T
C
missense
Het
probably damaging
0.995
phenotype
04/27/2016
48
384229
Nlrc4
0.165
R4968
G1
225
N
17
74446941
V149A
A
G
missense
Het
probably benign
0.196
phenotype
04/27/2016
49
384192
Nup133
1.000
R4968
G1
225
N
8
123915196
S843T
A
T
missense
Het
probably benign
0.069
phenotype
04/27/2016
50
384201
Olfr1386
0.191
R4968
G1
225
N
11
49470531
C127R
T
C
missense
Het
probably damaging
0.999
phenotype
04/27/2016
51
384185
Olfr639
0.184
R4968
G1
217
N
7
104012570
N44S
T
C
missense
Het
probably damaging
1.000
phenotype
04/27/2016
52
384224
P3h2
1.000
R4968
G1
225
N
16
25992662
A
G
critical splice donor site
2 bp
Het
probably null
phenotype
04/27/2016
53
384233
Piezo2
1.000
R4968
G1
151
N
18
63144971
Y287*
A
T
nonsense
Het
probably null
phenotype
04/27/2016
54
384232
Prob1
0.167
R4968
G1
102
N
18
35652552
Y883C
T
C
missense
Het
probably damaging
0.979
04/27/2016
55
384212
Pxdn
0.355
R4968
G1
225
N
12
30000012
H506Q
T
A
missense
Het
probably benign
0.252
phenotype
04/27/2016
56
384173
Ripor3
0.078
R4968
G1
225
N
2
167985117
D658G
T
C
missense
Het
probably benign
0.415
04/27/2016
57
384202
Rufy1
0.382
R4968
G1
225
N
11
50410607
I333L
T
A
missense
Het
probably benign
0.011
phenotype
04/27/2016
58
384217
Selenok
0.000
R4968
G1
225
N
14
29970107
V34E
T
A
missense
Het
probably benign
0.006
phenotype
04/27/2016
59
384178
Selplg
0.092
R4968
G1
175
N
5
113819726
E173G
T
C
missense
Het
possibly damaging
0.926
phenotype
04/27/2016
60
384196
Sept10
0.132
R4968
G1
225
N
10
59181121
F194L
A
G
missense
Het
probably damaging
1.000
phenotype
04/27/2016
61
384234
Sptbn2
0.000
R4968
G1
225
N
19
4729202
A
T
intron
28 bp
Het
probably null
phenotype
04/27/2016
62
384165
St6galnac6
0.102
R4968
G1
109
N
2
32608086
P6S
C
T
missense
Het
probably benign
0.001
phenotype
04/27/2016
63
384211
Syngr2
0.117
R4968
G1
225
N
11
117813470
Y194H
T
C
missense
Het
probably damaging
1.000
phenotype
04/27/2016
64
384215
Thbs4
0.000
R4968
G1
225
N
13
92758068
I649T
A
G
missense
Het
possibly damaging
0.553
phenotype
04/27/2016
65
384221
Triobp
1.000
R4968
G1
225
N
15
78966616
N323K
T
A
missense
Het
probably benign
0.032
phenotype
04/27/2016
66
384169
Ttc30b
0.000
R4968
G1
225
N
2
75938047
I121V
T
C
missense
Het
probably benign
0.003
04/27/2016
67
384181
Tuba8
0.000
R4968
G1
196
N
6
121220589
L70Q
T
A
missense
Het
probably damaging
1.000
phenotype
04/27/2016
68
384183
Vmn2r61
0.081
R4968
G1
225
N
7
42300054
T633A
A
G
missense
Het
probably benign
0.135
04/27/2016
69
384198
Zfp280b
0.300
R4968
G1
225
N
10
76039354
V356L
G
T
missense
Het
probably damaging
1.000
phenotype
04/27/2016
70
384190
Zswim4
0.239
R4968
G1
225
N
8
84217372
V746D
A
T
missense
Het
probably benign
0.368
04/27/2016
[records 1 to 70 of 70]