Home
Phenotypic Mutations
Incidental Mutations
Engineered Mutations
Candidate Explorer
Protocols
Mutation Statistics
About
Contact
Links
Request Mice
Beutler Lab
APN
Strains @ MMRRC
Search Phenotypes
NEW
Candidate Explorer
Staff Login
Download
Incidental Mutations
104
incidental mutations are currently displayed, and affect
104
genes.
21
are Possibly Damaging.
37
are Probably Damaging.
26
are Probably Benign.
19
are Probably Null.
10
create premature stop codons.
3
are critical splice junction mutations.
Mutations in Coding Regions/Splice Sites Identified by Next-Gen Sequencing
[records 1 to 100 of 104]
next >>
last >|
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
393979
1700061G19Rik
0.083
R5112
G1
225
N
17
56877465
M80K
T
A
missense
Het
probably benign
0.031
06/15/2016
2
393898
Abca2
0.000
R5112
G1
225
N
2
25438371
K846R
A
G
missense
Het
probably damaging
0.999
0.182
phenotype
06/15/2016
3
393931
Acsm5
0.342
R5112
G1
225
N
7
119537279
K358E
A
G
missense
Het
possibly damaging
0.949
06/15/2016
4
393934
Adam26a
0.000
R5112
G1
225
N
8
43568856
D532E
A
T
missense
Het
probably benign
0.040
phenotype
06/15/2016
5
393983
Adamts19
0.000
R5112
G1
225
N
18
59031804
R993*
C
T
nonsense
Het
probably null
phenotype
06/15/2016
6
393958
Akr1c13
0.067
R5112
G1
225
N
13
4194152
K68R
A
G
missense
Het
possibly damaging
0.696
06/15/2016
7
393887
Als2cr12
0.051
R5112
G1
225
N
1
58659282
T326A
T
C
missense
Het
probably benign
0.048
0.090
06/15/2016
8
393885
Amer3
0.055
R5112
G1
225
N
1
34587076
M132K
T
A
missense
Het
possibly damaging
0.935
06/15/2016
9
393990
Ankrd2
0.000
R5112
G1
225
N
19
42039887
D38G
A
G
missense
Het
possibly damaging
0.711
phenotype
06/15/2016
10
393888
Ano7
0.000
R5112
G1
225
N
1
93397363
V546M
G
A
missense
Het
possibly damaging
0.774
0.179
phenotype
06/15/2016
11
393886
Aox2
0.062
R5112
G1
91
N
1
58310095
G
A
splice site
Het
probably null
0.976
06/15/2016
12
393982
Apc
0.972
R5112
G1
225
N
18
34316109
C1985*
T
A
nonsense
Het
probably null
phenotype
06/15/2016
13
393893
Astn1
0.112
R5112
G1
225
N
1
158657193
S15F
C
T
missense
Het
possibly damaging
0.875
0.095
phenotype
06/15/2016
14
393969
Atp13a4
0.000
R5112
G1
154
N
16
29409868
N950K
A
T
missense
Het
possibly damaging
0.873
06/15/2016
15
393968
Bcl6
0.943
R5112
G1
225
N
16
23972746
V286A
A
G
missense
Het
probably benign
0.000
phenotype
06/15/2016
16
393895
Brox
0.091
R5112
G1
225
N
1
183291977
T79S
T
A
missense
Het
probably benign
0.000
06/15/2016
17
393929
C2cd3
1.000
R5112
G1
225
N
7
100443485
I512F
A
T
missense
Het
possibly damaging
0.909
phenotype
06/15/2016
18
393916
Camta1
0.574
R5112
G1
225
N
4
151074054
L542S
A
G
missense
Het
probably damaging
1.000
phenotype
06/15/2016
19
393980
Capn13
0.050
R5112
G1
217
N
17
73351506
GCA
G
frame shift
Het
probably null
phenotype
06/15/2016
20
393965
Card10
0.083
R5112
G1
215
N
15
78802380
C
T
critical splice donor site
1 bp
Het
probably null
0.950
phenotype
06/15/2016
21
393971
Cd96
0.000
R5112
G1
225
N
16
46098938
M240T
A
G
missense
Het
probably benign
0.000
phenotype
06/15/2016
22
393897
Cdc123
1.000
R5112
G1
225
N
2
5804937
L221P
A
G
missense
Het
possibly damaging
0.590
0.179
06/15/2016
23
393889
Cdh19
0.000
R5112
G1
225
N
1
110954624
V46A
A
G
missense
Het
possibly damaging
0.679
0.235
phenotype
06/15/2016
24
393936
Clcn3
0.428
R5112
G1
225
N
8
60954552
H24Y
G
A
missense
Het
probably benign
0.071
phenotype
06/15/2016
25
393976
Col11a2
0.934
R5112
G1
196
N
17
34064088
T
C
unclassified
Het
probably benign
phenotype
06/15/2016
26
393955
Cpsf3
0.971
R5112
G1
225
N
12
21291784
M50L
A
T
missense
Het
probably benign
0.000
phenotype
06/15/2016
27
393953
Csf3
0.090
R5112
G1
201
N
11
98702923
L197Q
T
A
missense
Het
probably damaging
1.000
phenotype
06/15/2016
28
393985
Ctsw
0.000
R5112
G1
225
N
19
5466257
D196V
T
A
missense
Het
probably damaging
0.984
phenotype
06/15/2016
29
393932
Dcun1d3
0.350
R5112
G1
225
N
7
119858027
I154K
A
T
missense
Het
probably damaging
0.978
06/15/2016
30
393977
Ddr1
0.907
R5112
G1
225
N
17
35682485
T877A
T
C
missense
Het
probably benign
0.000
phenotype
06/15/2016
31
393975
Dnah8
0.486
R5112
G1
225
N
17
30731038
L1944I
T
A
missense
Het
probably benign
0.021
phenotype
06/15/2016
32
393956
Dpf3
0.426
R5112
G1
225
N
12
83370611
S29*
G
T
nonsense
Het
probably null
0.976
phenotype
06/15/2016
33
393941
Ephb1
0.000
R5112
G1
225
N
9
101971179
I640T
A
G
missense
Het
probably damaging
0.998
phenotype
06/15/2016
34
393935
Fat1
1.000
R5112
G1
225
N
8
45024282
G2099S
G
A
missense
Het
probably damaging
0.996
phenotype
06/15/2016
35
393924
Fbxo41
0.407
R5112
G1
225
N
6
85477924
N667K
G
T
missense
Het
probably damaging
0.996
0.301
phenotype
06/15/2016
36
393972
Gart
1.000
R5112
G1
225
N
16
91634045
D376E
A
T
missense
Het
probably benign
0.017
phenotype
06/15/2016
37
393967
Glyr1
0.415
R5112
G1
225
N
16
5018876
Q475*
G
A
nonsense
Het
probably null
06/15/2016
38
393957
Gm28051
0.099
R5112
G1
225
N
12
102720171
Q77*
G
A
nonsense
Het
probably null
0.976
06/15/2016
39
393991
Gm7102
0.189
R5112
G1
225
N
19
61175926
G24R
C
T
missense
Het
unknown
0.109
06/15/2016
40
393978
Gnmt
0.282
R5112
G1
225
N
17
46726330
R176L
C
A
missense
Het
probably damaging
1.000
phenotype
06/15/2016
41
393904
Gpr176
0.000
R5112
G1
225
N
2
118280148
V210D
A
T
missense
Het
possibly damaging
0.876
phenotype
06/15/2016
42
393922
Gtf2ird1
0.656
R5112
G1
225
N
5
134402184
D339E
A
T
missense
Het
probably damaging
1.000
0.647
phenotype
06/15/2016
43
393963
Hmbox1
0.784
R5112
G1
225
N
14
64825612
Y372H
A
G
missense
Het
probably damaging
0.996
phenotype
06/15/2016
44
393937
Ier2
0.000
R5112
G1
225
N
8
84662732
A7E
G
T
missense
Het
probably damaging
1.000
06/15/2016
45
393944
Il20ra
0.000
R5112
G1
225
N
10
19758943
T311A
A
G
missense
Het
possibly damaging
0.612
0.179
phenotype
06/15/2016
46
393890
Il24
0.000
R5112
G1
198
N
1
130883442
T
C
splice site
Het
probably null
0.976
phenotype
06/15/2016
47
393987
Insl6
0.120
R5112
G1
225
N
19
29321596
Q139*
G
A
nonsense
Het
probably null
phenotype
06/15/2016
48
500891
Itga2b
0.271
R5112
G1
225
N
11
102458191
I729K
A
T
missense
Het
probably damaging
0.986
phenotype
12/01/2017
49
393925
Itpr2
0.000
R5112
G1
225
N
6
146233991
M1814K
A
T
missense
Het
possibly damaging
0.947
0.778
phenotype
06/15/2016
50
393961
Klhl3
0.000
R5112
G1
225
N
13
58018889
S429F
G
A
missense
Het
probably damaging
0.999
phenotype
06/15/2016
51
393988
Lipo2
0.077
R5112
G1
225
N
19
33748465
N129S
T
C
missense
Het
probably benign
0.002
06/15/2016
52
393909
Lrba
0.000
R5112
G1
225
N
3
86225371
T28M
C
T
missense
Het
probably benign
0.235
0.090
phenotype
06/15/2016
53
393959
Ly86
0.082
R5112
G1
225
N
13
37375037
G71C
G
T
missense
Het
probably damaging
1.000
phenotype
06/15/2016
54
393992
Maob
0.113
R5112
G1
222
N
X
16716423
T400A
T
C
missense
Het
probably benign
0.000
0.224
phenotype
06/15/2016
55
393930
Mical2
0.322
R5112
G1
225
N
7
112320611
S443G
A
G
missense
Het
probably damaging
1.000
phenotype
06/15/2016
56
393921
Mmp17
0.086
R5112
G1
225
N
5
129602165
H376R
A
G
missense
Het
possibly damaging
0.507
0.184
phenotype
06/15/2016
57
393981
Myo7b
0.000
R5112
G1
225
N
18
31983587
H989R
T
C
missense
Het
probably damaging
0.996
phenotype
06/15/2016
58
393962
Neil2
0.000
R5112
G1
225
N
14
63188460
W154R
A
G
missense
Het
probably damaging
1.000
phenotype
06/15/2016
59
393926
Nlrp12
0.099
R5112
G1
225
N
7
3240983
H300Y
G
A
missense
Het
possibly damaging
0.722
0.179
phenotype
06/15/2016
60
393952
Nlrp3
0.063
R5112
G1
225
N
11
59548728
Y377F
A
T
missense
Het
probably damaging
1.000
0.918
phenotype
06/15/2016
61
393910
Notch2
1.000
R5112
G1
225
N
3
98101636
T
C
critical splice donor site
2 bp
Het
probably null
0.949
phenotype
06/15/2016
62
393964
Nudcd1
0.904
R5112
G1
225
N
15
44376643
C500*
A
T
nonsense
Het
probably null
0.976
06/15/2016
63
393901
Olfr1099
0.104
R5112
G1
225
N
2
86959354
Y35N
A
T
missense
Het
probably damaging
1.000
0.258
phenotype
06/15/2016
64
393902
Olfr1164
0.173
R5112
G1
225
N
2
88093009
V309A
A
G
missense
Het
probably damaging
1.000
0.199
phenotype
06/15/2016
65
393986
Olfr1449
0.000
R5112
G1
225
N
19
12934816
V26A
T
C
missense
Het
probably benign
0.008
phenotype
06/15/2016
66
393939
Olfr1537
0.100
R5112
G1
225
N
9
39238421
M1T
A
G
start codon destroyed
Het
probably null
0.939
phenotype
06/15/2016
67
393973
Pabpc6
0.077
R5112
G1
225
N
17
9669611
S4C
T
A
missense
Het
probably damaging
0.997
06/15/2016
68
393949
Pan2
1.000
R5112
G1
225
N
10
128315595
R835*
C
T
nonsense
Het
probably null
phenotype
06/15/2016
69
393970
Parp9
0.213
R5112
G1
225
N
16
35964313
V346I
G
A
missense
Het
probably damaging
0.999
06/15/2016
70
393942
Pcbp4
0.580
R5112
G1
150
N
9
106460718
T69M
C
T
missense
Het
probably damaging
1.000
phenotype
06/15/2016
71
393917
Pclo
0.000
R5112
G1
225
N
5
14677882
T
A
unclassified
Het
probably benign
0.058
phenotype
06/15/2016
72
393927
Phldb3
0.132
R5112
G1
225
N
7
24624685
I495F
A
T
missense
Het
possibly damaging
0.726
0.074
06/15/2016
73
393989
Plce1
0.633
R5112
G1
225
N
19
38651833
V508F
G
T
missense
Het
probably benign
0.001
phenotype
06/15/2016
74
393899
Pmpca
0.952
R5112
G1
225
N
2
26395166
I468F
A
T
missense
Het
probably damaging
0.997
0.761
phenotype
06/15/2016
75
393918
Pmpcb
1.000
R5112
G1
225
N
5
21756443
R399H
G
A
missense
Het
probably damaging
1.000
0.647
phenotype
06/15/2016
76
393892
Ptprc
0.000
R5112
G1
225
N
1
138094299
S544P
A
G
missense
Het
probably damaging
0.971
0.647
phenotype
06/15/2016
77
393945
Rev3l
1.000
R5112
G1
225
N
10
39823330
D1274E
T
A
missense
Het
probably benign
0.001
0.071
phenotype
06/15/2016
78
393903
Ryr3
0.421
R5112
G1
225
N
2
112902665
V612E
A
T
missense
Het
probably damaging
1.000
phenotype
06/15/2016
79
393919
Scfd2
0.094
R5112
G1
225
N
5
74206321
H639Q
G
T
missense
Het
probably benign
0.152
0.090
06/15/2016
80
393894
Sell
0.000
R5112
G1
225
N
1
164065318
H34Q
T
A
missense
Het
possibly damaging
0.754
0.122
phenotype
06/15/2016
81
393943
Setd2
0.921
R5112
G1
225
N
9
110548158
D347G
A
G
missense
Het
probably benign
0.282
0.090
phenotype
06/15/2016
82
393914
Sgip1
0.000
R5112
G1
225
N
4
102869769
D81N
G
A
missense
Het
probably damaging
1.000
phenotype
06/15/2016
83
393906
Slc12a1
0.224
R5112
G1
225
N
2
125218224
I940F
A
T
missense
Het
possibly damaging
0.630
phenotype
06/15/2016
84
393915
Slc25a34
0.062
R5112
G1
201
N
4
141621458
I232L
T
A
missense
Het
probably benign
0.015
phenotype
06/15/2016
85
393951
Slc36a3
0.100
R5112
G1
189
N
11
55148573
K76N
T
A
missense
Het
probably damaging
0.999
0.647
06/15/2016
86
393947
Slc6a15
0.000
R5112
G1
225
N
10
103389226
D58E
T
A
missense
Het
probably benign
0.000
phenotype
06/15/2016
87
393984
Slc6a7
0.111
R5112
G1
149
N
18
61007376
S195G
T
C
missense
Het
probably null
0.038
phenotype
06/15/2016
88
393912
Svep1
1.000
R5112
G1
225
N
4
58068610
Q3059*
G
A
nonsense
Het
probably null
phenotype
06/15/2016
89
393938
Syce1l
0.000
R5112
G1
225
N
8
113651642
H56P
A
C
missense
Het
probably damaging
0.988
06/15/2016
90
500890
Tbc1d2
0.138
R5112
G1
122
N
4
46606503
V814A
A
G
missense
Het
probably damaging
0.999
12/01/2017
91
393940
Tbx18
1.000
R5112
G1
153
N
9
87715687
I265F
T
A
missense
Het
probably damaging
1.000
phenotype
06/15/2016
92
393974
Thbs2
0.171
R5112
G1
225
N
17
14670590
T
C
splice site
4 bp
Het
probably null
phenotype
06/15/2016
93
393966
Ttll1
0.929
R5112
G1
225
N
15
83496396
H256R
T
C
missense
Het
probably damaging
0.998
0.234
phenotype
06/15/2016
94
393900
Ttn
1.000
R5112
G1
225
N
2
76811243
L5176Q
A
T
missense
Het
possibly damaging
0.943
0.071
phenotype
06/15/2016
95
393954
Ttyh2
0.061
R5112
G1
211
N
11
114696757
T195S
A
T
missense
Het
probably benign
0.001
0.082
phenotype
06/15/2016
96
393920
Unc119b
0.000
R5112
G1
179
N
5
115125494
L217P
A
G
missense
Het
probably damaging
0.970
0.137
06/15/2016
97
393960
Unc5a
0.000
R5112
G1
225
N
13
55003418
T
C
critical splice donor site
2 bp
Het
probably null
phenotype
06/15/2016
98
500889
Usp6nl
0.092
R5112
G1
225
N
2
6420903
K152E
A
G
missense
Het
probably benign
0.047
0.081
12/01/2017
99
393911
Vcam1
0.504
R5112
G1
225
N
3
116117292
R486G
T
C
missense
Het
probably benign
0.001
0.090
phenotype
06/15/2016
100
393908
Vmn2r1
0.158
R5112
G1
225
N
3
64090123
Q400P
A
C
missense
Het
possibly damaging
0.808
0.179
06/15/2016
[records 1 to 100 of 104]
next >>
last >|