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Incidental Mutations
56
incidental mutations are currently displayed, and affect
54
genes.
10
are Possibly Damaging.
20
are Probably Damaging.
18
are Probably Benign.
8
are Probably Null.
2
create premature stop codons.
0
are critical splice junction mutations.
Mutations in Coding Regions/Splice Sites Identified by Next-Gen Sequencing
[records 1 to 56 of 56]
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
275059
2700049A03Rik
1.000
R3808
G1
225
N
12
71164546
E685*
G
T
nonsense
Het
probably null
0.976
phenotype
04/02/2015
2
275060
2700049A03Rik
1.000
R3808
G1
225
N
12
71164547
E685V
A
T
missense
Het
possibly damaging
0.931
0.181
phenotype
04/02/2015
3
275051
Aldh3a2
0.084
R3808
G1
206
N
11
61258797
L248M
G
T
missense
Het
probably damaging
0.997
phenotype
04/02/2015
4
275009
Als2
0.793
R3808
G1
225
N
1
59170450
S1458P
A
G
missense
Het
probably benign
0.076
phenotype
04/02/2015
5
275058
Arhgap5
1.000
R3808
G1
225
N
12
52567187
E192G
A
G
missense
Het
possibly damaging
0.718
phenotype
04/02/2015
6
275071
Atg2a
0.280
R3808
G1
225
N
19
6252816
K1019R
A
G
missense
Het
possibly damaging
0.714
04/02/2015
7
275047
Atp2b1
1.000
R3808
G1
225
N
10
99003148
K613E
A
G
missense
Het
possibly damaging
0.736
phenotype
04/02/2015
8
275042
Carm1
1.000
R3808
G1
225
N
9
21586962
C421R
T
C
missense
Het
probably damaging
1.000
phenotype
04/02/2015
9
275026
Cdh17
0.077
R3808
G1
225
N
4
11795671
Y417F
A
T
missense
Het
probably damaging
0.990
phenotype
04/02/2015
10
275039
Cers1
0.386
R3808
G1
124
N
8
70330010
D10G
A
G
missense
Het
possibly damaging
0.845
phenotype
04/02/2015
11
275064
Clptm1l
0.000
R3808
G1
225
N
13
73612454
M319L
A
C
missense
Het
probably benign
0.129
phenotype
04/02/2015
12
275063
Cntnap3
0.061
R3808
G1
225
N
13
64781804
V527A
A
G
missense
Het
probably damaging
0.963
phenotype
04/02/2015
13
275030
Creb3l2
0.527
R3808
G1
225
N
6
37355690
S290P
A
G
missense
Het
probably damaging
0.965
phenotype
04/02/2015
14
275023
D3Ertd254e
0.100
R3808
G1
225
N
3
36165643
T
G
splice site
2969 bp
Het
probably null
04/02/2015
15
275057
Dock4
0.248
R3808
G1
225
N
12
40672810
V305G
T
G
missense
Het
probably damaging
0.992
phenotype
04/02/2015
16
275016
Dtl
1.000
R3808
G1
225
N
1
191548354
L356R
A
C
missense
Het
probably damaging
1.000
phenotype
04/02/2015
17
275055
Eftud2
1.000
R3808
G1
225
N
11
102841463
A
T
splice site
Het
probably null
phenotype
04/02/2015
18
275028
Eif2b4
1.000
R3808
G1
225
N
5
31191168
S88P
A
G
missense
Het
possibly damaging
0.951
phenotype
04/02/2015
19
275024
Fat4
1.000
R3808
G1
225
N
3
38982438
V3413G
T
G
missense
Het
possibly damaging
0.524
phenotype
04/02/2015
20
473946
Fgfr2
1.000
R3808
G1
225
N
7
130199848
M218V
T
C
missense
Het
probably benign
0.014
phenotype
04/14/2017
21
275032
Grin2b
1.000
R3808
G1
225
N
6
135923271
L204P
A
G
missense
Het
probably damaging
0.987
phenotype
04/02/2015
22
275050
Kcnj12
0.000
R3808
G1
225
N
11
61070277
N467S
A
G
missense
Het
probably benign
0.011
phenotype
04/02/2015
23
275068
Klhdc3
0.851
R3808
G1
225
N
17
46677932
N111Y
T
A
missense
Het
possibly damaging
0.886
phenotype
04/02/2015
24
275015
Lin9
1.000
R3808
G1
225
N
1
180659111
I81V
A
G
missense
Het
probably null
0.323
phenotype
04/02/2015
25
275018
Lrp2
1.000
R3808
G1
225
N
2
69501548
D1621G
T
C
missense
Het
probably damaging
1.000
phenotype
04/02/2015
26
275020
Lrp4
0.805
R3808
G1
140
N
2
91476702
D389E
T
A
missense
Het
probably damaging
0.990
phenotype
04/02/2015
27
275065
Med15
0.959
R3808
G1
225
N
16
17655734
C
T
unclassified
Het
probably benign
04/02/2015
28
275025
Nbea
1.000
R3808
G1
225
N
3
55717848
N2274S
T
C
missense
Het
probably benign
0.022
phenotype
04/02/2015
29
275040
Nr3c2
1.000
R3808
G1
225
N
8
76908714
G148D
G
A
missense
Het
probably damaging
0.998
phenotype
04/02/2015
30
275019
Olfr1217
0.067
R3808
G1
225
N
2
89023426
H192Q
G
T
missense
Het
probably benign
0.411
0.395
phenotype
04/02/2015
31
275067
Olfr127
0.055
R3808
G1
225
N
17
37903573
V9A
T
C
missense
Het
probably benign
0.001
phenotype
04/02/2015
32
275043
Olfr982
0.155
R3808
G1
225
N
9
40074309
M5L
A
T
missense
Het
probably benign
0.000
phenotype
04/02/2015
33
275027
Paxip1
1.000
R3808
G1
225
N
5
27772029
A
G
unclassified
Het
probably benign
phenotype
04/02/2015
34
275052
Pfas
1.000
R3808
G1
225
N
11
68989953
T
C
intron
Het
probably benign
phenotype
04/02/2015
35
275069
Plin3
0.072
R3808
G1
225
N
17
56286275
A96S
C
A
missense
Het
probably damaging
0.996
phenotype
04/02/2015
36
275072
Pnck
0.000
R3808
G1
222
N
X
73656944
I288F
T
A
missense
Het
probably damaging
1.000
phenotype
04/02/2015
37
275036
Ppp4c
1.000
R3808
G1
225
N
7
126787327
G166D
C
T
missense
Het
probably damaging
1.000
phenotype
04/02/2015
38
275044
Prss43
0.057
R3808
G1
225
N
9
110827772
R115S
A
T
missense
Het
probably damaging
0.999
04/02/2015
39
275022
Rassf2
0.178
R3808
G1
218
N
2
131998260
T
C
splice site
4654 bp
Het
probably null
phenotype
04/02/2015
40
275048
Rdh16f1
0.061
R3808
G1
225
N
10
127788699
D135E
T
A
missense
Het
probably benign
0.030
04/02/2015
41
275049
Rdh16f1
0.061
R3808
G1
225
N
10
127788700
V136M
G
A
missense
Het
probably damaging
1.000
04/02/2015
42
275029
Rgs12
0.218
R3808
G1
176
N
5
35032354
E702G
A
G
missense
Het
probably damaging
1.000
phenotype
04/02/2015
43
275056
Rnf213
0.000
R3808
G1
225
N
11
119479558
K4728E
A
G
missense
Het
probably damaging
0.997
phenotype
04/02/2015
44
275046
Ros1
0.148
R3808
G1
225
N
10
52120848
T1243P
T
G
missense
Het
probably benign
0.076
phenotype
04/02/2015
45
275041
Sall1
0.953
R3808
G1
225
N
8
89031473
Q668*
G
A
nonsense
Het
probably null
phenotype
04/02/2015
46
275035
Sbf2
0.372
R3808
G1
225
N
7
110489280
*45L
C
A
makesense
Het
probably null
phenotype
04/02/2015
47
275061
Serpina3j
0.057
R3808
G1
225
N
12
104319827
I414F
A
T
missense
Het
probably benign
0.138
04/02/2015
48
275017
Sh2d3c
1.000
R3808
G1
177
N
2
32746096
Y159H
T
C
missense
Het
probably damaging
0.999
phenotype
04/02/2015
49
275014
Slamf1
0.000
R3808
G1
225
N
1
171798177
D307G
A
G
missense
Het
probably null
0.696
phenotype
04/02/2015
50
275045
Slc22a13
0.051
R3808
G1
225
N
9
119196077
T178A
T
C
missense
Het
probably benign
0.000
phenotype
04/02/2015
51
275070
Smchd1
0.732
R3808
G1
225
N
17
71429541
L588H
A
T
missense
Het
probably damaging
1.000
phenotype
04/02/2015
52
275031
Svs1
0.058
R3808
G1
225
N
6
48987994
P312L
C
T
missense
Het
possibly damaging
0.930
0.179
04/02/2015
53
275034
Trim12a
0.052
R3808
G1
225
N
7
104306994
A113V
G
A
missense
Het
probably benign
0.045
04/02/2015
54
275011
Vil1
0.232
R3808
G1
225
N
1
74427613
V654A
T
C
missense
Het
probably benign
0.000
phenotype
04/02/2015
55
275062
Vmn1r202
0.095
R3808
G1
225
N
13
22501900
T116A
T
C
missense
Het
possibly damaging
0.834
04/02/2015
56
473945
Zfp607a
0.058
R3808
G1
225
N
7
27879401
R632H
G
A
missense
Het
probably benign
0.006
04/14/2017
[records 1 to 56 of 56]