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Incidental Mutations
46
incidental mutations are currently displayed, and affect
45
genes.
12
are Possibly Damaging.
12
are Probably Damaging.
16
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 46 of 46]
10
25
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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
200857
Ac165356.1
0.310
R1185
G1
225
Y
7
106083479
A190T
C
T
missense
Het
probably benign
0.393
0.090
05/23/2014
2
200870
AC211878.1
0.135
R1185
G1
225
Y
12
87773708
V27A
A
G
missense
Het
probably benign
0.145
0.090
05/23/2014
3
200849
Aimp2
1.000
R1185
G1
225
Y
5
143904691
S110P
A
G
missense
Het
possibly damaging
0.820
0.630
phenotype
05/23/2014
4
200847
Akap9
0.521
R1185
G1
225
Y
5
3948783
T51A
A
G
missense
Het
probably benign
0.134
0.090
phenotype
05/23/2014
5
200865
Arhgef25
0.283
R1185
G1
225
Y
10
127183781
F430L
A
G
missense
Het
possibly damaging
0.846
0.165
phenotype
05/23/2014
6
200848
Brap
1.000
R1185
G1
225
Y
5
121675279
V235A
T
C
missense
Het
probably damaging
1.000
0.736
phenotype
05/23/2014
7
200854
Cd69
0.087
R1185
G1
225
Y
6
129270185
G23D
C
T
missense
Het
probably damaging
1.000
0.376
phenotype
05/23/2014
8
200853
Cecr2
1.000
R1185
G1
225
Y
6
120758205
R24*
C
T
nonsense
Het
probably null
0.971
phenotype
05/23/2014
9
200844
Celsr2
0.000
R1185
G1
225
Y
3
108399709
D1974G
T
C
missense
Het
possibly damaging
0.954
0.167
phenotype
05/23/2014
10
200838
Cps1
1.000
R1185
G1
225
Y
1
67195199
K915R
A
G
missense
Het
probably benign
0.001
0.083
phenotype
05/23/2014
11
200860
Csmd1
0.000
R1185
G1
225
Y
8
16358348
D401G
T
C
missense
Het
probably damaging
0.959
0.563
phenotype
05/23/2014
12
200872
Dusp13
0.000
R1185
G1
225
Y
14
21735018
F141S
A
G
missense
Het
probably damaging
1.000
0.201
phenotype
05/23/2014
13
500185
Fam162b
0.061
R1185
G1
189
N
10
51590343
W27R
A
G
missense
Het
probably benign
0.000
0.090
12/01/2017
14
200846
Focad
0.440
R1185
G1
225
Y
4
88178187
T269A
A
G
missense
Het
probably benign
0.398
0.090
05/23/2014
15
200873
Ghr
0.000
R1185
G1
225
Y
15
3328062
R241S
T
A
missense
Het
possibly damaging
0.505
0.179
phenotype
05/23/2014
16
200858
Hirip3
0.000
R1185
G1
217
Y
7
126863660
AAGAG
AAG
frame shift
Het
probably null
phenotype
05/23/2014
17
200875
Itgb2l
0.091
R1185
G1
225
Y
16
96429040
Y357H
A
G
missense
Het
possibly damaging
0.902
0.179
phenotype
05/23/2014
18
200863
Jrkl
0.205
R1185
G1
225
Y
9
13244933
D241G
T
C
missense
Het
possibly damaging
0.687
0.172
phenotype
05/23/2014
19
200840
Lmod1
0.076
R1185
G1
225
Y
1
135364229
D274G
A
G
missense
Het
probably benign
0.000
0.090
phenotype
05/23/2014
20
200839
Lrrn2
0.081
R1185
G1
225
Y
1
132939221
S675G
A
G
missense
Het
probably benign
0.001
0.061
phenotype
05/23/2014
21
200855
Ltbp4
1.000
R1185
G1
221
Y
7
27310535
P1200R
G
C
missense
Het
probably damaging
1.000
0.500
phenotype
05/23/2014
22
200845
Mdn1
1.000
R1185
G1
225
Y
4
32735576
L3414P
T
C
missense
Het
possibly damaging
0.937
0.130
05/23/2014
23
200874
Muc19
0.144
R1185
G1
225
Y
15
91878549
A
G
exon
Het
noncoding transcript
0.087
phenotype
05/23/2014
24
500184
Myo16
0.380
R1185
G1
183
N
8
10633624
S1856T
T
A
missense
Het
probably damaging
1.000
0.081
phenotype
12/01/2017
25
200842
Neb
0.894
R1185
G1
225
Y
2
52296298
Y921H
A
G
missense
Het
probably damaging
0.998
0.108
phenotype
05/23/2014
26
200876
Olfr135
0.062
R1185
G1
225
Y
17
38209183
*313R
T
A
makesense
Het
probably null
0.976
phenotype
05/23/2014
27
500186
Pgap3
0.274
R1185
G1
224
N
11
98391134
D117G
T
C
missense
Het
probably damaging
0.995
0.947
phenotype
12/01/2017
28
200868
Ppp1r9b
0.000
R1185
G1
225
Y
11
95001986
F671L
T
C
missense
Het
possibly damaging
0.953
0.060
phenotype
05/23/2014
29
102038
Proser3
0.063
R1185
G1
97
N
7
30546147
A144V
G
A
missense
Het
probably benign
0.011
01/15/2014
30
200861
Purg
0.268
R1185
G1
225
Y
8
33386869
Y178*
T
G
nonsense
Het
probably null
0.971
phenotype
05/23/2014
31
200850
Rsph10b
0.068
R1185
G1
225
N
5
143966462
G
A
splice site
Het
probably benign
05/23/2014
32
102054
Sfi1
0.243
R1185
G1
217
N
11
3146254
TCGC
TC
frame shift
Het
probably null
01/15/2014
33
102057
Sfi1
0.243
R1185
G1
214
N
11
3177419
CCTCTC
CCTCTCTC
critical splice donor site
Het
probably benign
01/15/2014
34
200879
Sorbs1
0.808
R1185
G1
225
Y
19
40382606
D79V
T
A
missense
Het
probably damaging
1.000
0.125
phenotype
05/23/2014
35
200851
Tcaf3
0.049
R1185
G1
225
Y
6
42591434
T663A
T
C
missense
Het
probably damaging
1.000
0.647
05/23/2014
36
200866
Timd4
0.076
R1185
G1
225
Y
11
46817648
T167K
C
A
missense
Het
probably damaging
0.994
0.175
phenotype
05/23/2014
37
500187
Tjp2
1.000
R1185
G1
225
N
19
24131163
L195P
A
G
missense
Het
possibly damaging
0.674
0.061
phenotype
12/01/2017
38
262453
Tnr
0.000
R1185
G1
115
N
1
159852286
A277T
G
A
missense
Het
probably benign
0.000
0.075
phenotype
02/04/2015
39
200877
Trpm3
0.081
R1185
G1
225
N
19
22914417
G
A
splice site
Het
probably benign
phenotype
05/23/2014
40
500182
Ttc30a1
0.488
R1185
G1
113
N
2
75980352
N462K
A
T
missense
Het
probably damaging
1.000
12/01/2017
41
200862
Unc13a
1.000
R1185
G1
225
Y
8
71661833
G181D
C
T
missense
Het
probably benign
0.129
0.061
phenotype
05/23/2014
42
200852
Vmn1r11
0.097
R1185
G1
225
Y
6
57137507
L52Q
T
A
missense
Het
possibly damaging
0.891
0.179
05/23/2014
43
500183
Vmn2r125
0.066
R1185
G1
93
N
4
156351101
A258D
C
A
missense
Het
probably benign
0.000
12/01/2017
44
200856
Zfp27
0.623
R1185
G1
225
Y
7
29895829
D237G
T
C
missense
Het
possibly damaging
0.922
0.179
05/23/2014
45
200867
Zfp39
0.221
R1185
G1
225
Y
11
58902844
T23A
T
C
missense
Het
possibly damaging
0.907
0.179
phenotype
05/23/2014
46
200871
Zfp459
0.000
R1185
G1
225
Y
13
67408481
N161T
T
G
missense
Het
probably benign
0.004
0.090
05/23/2014
[records 1 to 46 of 46]