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Incidental Mutations
54
incidental mutations are currently displayed, and affect
54
genes.
10
are Possibly Damaging.
18
are Probably Damaging.
18
are Probably Benign.
5
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 54 of 54]
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
448196
3110043O21Rik
0.000
R5789
G1
225
Y
4
35226112
T
A
unclassified
Het
probably benign
phenotype
12/15/2016
2
448190
Abcb11
0.651
R5789
G1
225
Y
2
69245764
F1200S
A
G
missense
Het
probably damaging
1.000
0.889
phenotype
12/15/2016
3
448241
Ahnak
0.306
R5789
G1
225
Y
19
9002321
D323V
A
T
missense
Het
probably benign
0.002
0.090
phenotype
12/15/2016
4
448225
Aloxe3
1.000
R5789
G1
225
Y
11
69126439
Y13H
T
C
missense
Het
probably damaging
0.999
0.203
phenotype
12/15/2016
5
448204
Aqp1
0.000
R5789
G1
225
Y
6
55336761
I91V
A
G
missense
Het
probably benign
0.000
0.060
phenotype
12/15/2016
6
448229
Carmil1
0.000
R5789
G1
225
Y
13
24121848
S318P
A
G
missense
Het
probably damaging
0.999
0.185
phenotype
12/15/2016
7
448191
Cdan1
1.000
R5789
G1
225
Y
2
120729535
F383L
A
G
missense
Het
probably benign
0.225
0.228
phenotype
12/15/2016
8
501548
Col6a2
0.000
R5789
G1
225
Y
10
76604389
E606V
T
A
missense
Het
probably damaging
0.996
0.151
phenotype
12/01/2017
9
448220
Col6a5
0.855
R5789
G1
225
Y
9
105864608
T2371A
T
C
missense
Het
possibly damaging
0.907
0.179
phenotype
12/15/2016
10
448224
Cops3
1.000
R5789
G1
225
Y
11
59830280
T
C
intron
Het
probably benign
phenotype
12/15/2016
11
448211
Coq7
1.000
R5789
G1
225
Y
7
118529706
H35Q
G
T
missense
Het
possibly damaging
0.499
0.179
phenotype
12/15/2016
12
448193
Cp
0.000
R5789
G1
225
Y
3
19957290
F3I
T
A
missense
Het
probably benign
0.000
0.090
phenotype
12/15/2016
13
448192
D630003M21Rik
0.078
R5789
G1
225
Y
2
158216814
E389K
C
T
missense
Het
possibly damaging
0.626
0.179
12/15/2016
14
448189
Dclre1c
0.364
R5789
G1
225
Y
2
3437956
Q51L
A
T
missense
Het
probably damaging
0.999
0.647
phenotype
12/15/2016
15
448201
Dhx37
0.400
R5789
G1
225
Y
5
125421039
I702S
A
C
missense
Het
possibly damaging
0.545
0.788
phenotype
12/15/2016
16
448212
Dnah3
0.090
R5789
G1
225
Y
7
119943599
A3530D
G
T
missense
Het
possibly damaging
0.696
0.207
phenotype
12/15/2016
17
448219
Dnajc13
0.936
R5789
G1
225
Y
9
104214188
R635G
T
C
missense
Het
probably damaging
1.000
0.222
phenotype
12/15/2016
18
448210
Dnhd1
0.099
R5789
G1
225
Y
7
105705010
S3066G
A
G
missense
Het
possibly damaging
0.505
0.186
12/15/2016
19
448226
Doc2b
0.075
R5789
G1
225
Y
11
75786115
H144L
T
A
missense
Het
probably damaging
0.997
0.147
phenotype
12/15/2016
20
448197
Eif2b3
1.000
R5789
G1
225
Y
4
117028495
I78N
T
A
missense
Het
probably damaging
1.000
0.787
phenotype
12/15/2016
21
448221
Enpp1
0.291
R5789
G1
225
Y
10
24647239
H767Q
A
T
missense
Het
probably benign
0.000
0.090
phenotype
12/15/2016
22
448202
Fam180a
0.061
R5789
G1
225
Y
6
35313526
*174L
C
A
makesense
Het
probably null
0.834
12/15/2016
23
448223
Gabra1
0.165
R5789
G1
225
Y
11
42182915
A
T
unclassified
Het
probably benign
0.090
phenotype
12/15/2016
24
448218
Gfral
0.059
R5789
G1
225
Y
9
76197046
R228Q
C
T
missense
Het
probably benign
0.021
0.090
phenotype
12/15/2016
25
448217
Gm16551
0.161
R5789
G1
225
Y
9
74849253
T
A
unclassified
Het
noncoding transcript
12/15/2016
26
448188
Ifi213
0.057
R5789
G1
225
Y
1
173568794
C
A
splice site
Het
probably benign
12/15/2016
27
448185
Inpp4a
0.190
R5789
G1
225
Y
1
37372329
V358A
T
C
missense
Het
possibly damaging
0.755
0.281
phenotype
12/15/2016
28
448215
Kmt2a
1.000
R5789
G1
225
Y
9
44819904
T
C
unclassified
Het
probably benign
0.083
phenotype
12/15/2016
29
448207
Mrgprb13
0.187
R5789
G1
225
Y
7
48312198
A
T
exon
Het
noncoding transcript
12/15/2016
30
448236
Narfl
1.000
R5789
G1
225
Y
17
25781203
C303R
T
C
missense
Het
probably benign
0.000
0.090
phenotype
12/15/2016
31
448187
Nckap5
0.000
R5789
G1
225
Y
1
126027702
F371S
A
G
missense
Het
probably damaging
0.999
0.116
12/15/2016
32
448232
Nudcd1
0.896
R5789
G1
225
Y
15
44388483
Q428*
G
A
nonsense
Het
probably null
0.976
12/15/2016
33
448238
Pcdhgc5
0.783
R5789
G1
225
Y
18
37821506
P611Q
C
A
missense
Het
probably damaging
0.985
0.283
phenotype
12/15/2016
34
448209
Plekhb1
0.000
R5789
G1
225
Y
7
100645586
Y193*
A
T
nonsense
Het
probably null
0.976
phenotype
12/15/2016
35
448237
Prrt1
0.065
R5789
G1
225
Y
17
34631957
T
C
critical splice donor site
2 bp
Het
probably null
0.950
phenotype
12/15/2016
36
448199
Ptpn12
1.000
R5789
G1
225
Y
5
20989015
T753I
G
A
missense
Het
possibly damaging
0.923
0.063
phenotype
12/15/2016
37
448235
Samsn1
0.000
R5789
G1
225
Y
16
75876448
D180G
T
C
missense
Het
probably damaging
1.000
0.908
phenotype
12/15/2016
38
448194
Sh2d2a
0.061
R5789
G1
169
Y
3
87849513
T
A
intron
Het
probably benign
phenotype
12/15/2016
39
448231
Skiv2l2
0.964
R5789
G1
225
Y
13
112891285
N680K
A
T
missense
Het
probably benign
0.015
0.058
12/15/2016
40
448239
Slc12a2
0.000
R5789
G1
225
Y
18
57912019
T
A
splice site
6 bp
Het
probably null
0.976
phenotype
12/15/2016
41
448228
Socs3
1.000
R5789
G1
225
Y
11
117967782
Q150L
T
A
missense
Het
probably benign
0.275
0.079
phenotype
12/15/2016
42
448227
Supt6
1.000
R5789
G1
225
Y
11
78233586
V23A
A
G
missense
Het
unknown
0.074
phenotype
12/15/2016
43
448216
Tcf12
1.000
R5789
G1
225
Y
9
71885236
Y119C
T
C
missense
Het
probably damaging
0.997
0.339
phenotype
12/15/2016
44
448195
Them5
0.052
R5789
G1
225
Y
3
94346601
E210G
A
G
missense
Het
probably damaging
1.000
0.581
phenotype
12/15/2016
45
448208
Tmem135
0.113
R5789
G1
225
Y
7
89196122
F167S
A
G
missense
Het
possibly damaging
0.729
0.150
12/15/2016
46
448214
Tmem170
0.134
R5789
G1
225
Y
8
111866400
V134A
A
G
missense
Het
possibly damaging
0.462
0.174
12/15/2016
47
448203
Trbv20
0.057
R5789
G1
225
Y
6
41188791
Y50C
A
G
missense
Het
probably damaging
0.996
0.647
12/15/2016
48
448205
Uroc1
0.000
R5789
G1
225
Y
6
90344197
M252V
A
G
missense
Het
probably damaging
0.998
0.789
phenotype
12/15/2016
49
448222
Wasf1
0.522
R5789
G1
225
Y
10
40926574
R75Q
G
A
missense
Het
probably damaging
0.996
0.647
phenotype
12/15/2016
50
448233
Xpnpep3
0.000
R5789
G1
225
Y
15
81415864
T
A
intron
Het
probably benign
0.090
12/15/2016
51
448198
Yars
1.000
R5789
G1
225
Y
4
129196897
T78M
C
T
missense
Het
probably damaging
1.000
0.871
phenotype
12/15/2016
52
448242
Zdhhc16
0.453
R5789
G1
225
Y
19
41938133
H98Q
T
A
missense
Het
probably damaging
1.000
0.711
phenotype
12/15/2016
53
448213
Zfp90
0.190
R5789
G1
225
Y
8
106423973
L106P
T
C
missense
Het
probably benign
0.000
0.090
phenotype
12/15/2016
54
448206
Zscan22
0.052
R5789
G1
225
Y
7
12903926
S82A
T
G
missense
Het
probably benign
0.000
0.090
12/15/2016
[records 1 to 54 of 54]