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Incidental Mutations
30
incidental mutations are currently displayed, and affect
30
genes.
4
are Possibly Damaging.
12
are Probably Damaging.
12
are Probably Benign.
1
are Probably Null.
1
create premature stop codons.
0
are critical splice junction mutations.
Mutations in Coding Regions/Splice Sites Identified by Next-Gen Sequencing
[records 1 to 30 of 30]
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
312018
Aga
1.000
R4018
G1
225
Y
8
53523191
K319R
A
G
missense
Het
probably benign
0.001
0.095
phenotype
04/29/2015
2
312025
Brip1
0.000
R4018
G1
225
Y
11
86138851
T619K
G
T
missense
Het
possibly damaging
0.861
0.967
phenotype
04/29/2015
3
312030
Cd300ld2
0.000
R4018
G1
225
Y
11
115012504
G
T
unclassified
Het
probably benign
0.090
04/29/2015
4
312027
Cd300lg
0.000
R4018
G1
143
Y
11
102041594
R2G
A
G
missense
Het
probably damaging
0.975
0.647
phenotype
04/29/2015
5
312014
Celsr2
0.000
R4018
G1
225
Y
3
108394965
V2616I
C
T
missense
Het
possibly damaging
0.920
0.170
phenotype
04/29/2015
6
312010
Edem3
0.346
R4018
G1
225
Y
1
151804826
C
T
splice site
Het
probably benign
0.090
phenotype
04/29/2015
7
312039
Endou
0.000
R4018
G1
225
Y
15
97718937
K235M
T
A
missense
Het
probably damaging
0.985
0.264
phenotype
04/29/2015
8
312022
Gm5431
0.063
R4018
G1
225
Y
11
48889168
N309I
T
A
missense
Het
probably damaging
0.998
0.647
04/29/2015
9
475123
Il4
R4018
G1
225
N
11
53613979
T
A
start gained
Het
probably benign
phenotype
04/14/2017
10
312040
Iws1
0.961
R4018
G1
225
Y
18
32070152
S27*
C
A
nonsense
Het
probably null
0.976
04/29/2015
11
312042
Kdm5d
0.071
R4018
G1
222
Y
Y
910441
T
C
splice site
Het
probably benign
phenotype
04/29/2015
12
312035
Ldb3
1.000
R4018
G1
225
Y
14
34552171
T
C
splice site
Het
probably benign
0.090
phenotype
04/29/2015
13
312031
Llgl2
0.691
R4018
G1
225
Y
11
115847612
T284A
A
G
missense
Het
probably benign
0.312
0.131
phenotype
04/29/2015
14
312023
Maml1
1.000
R4018
G1
225
Y
11
50265784
N521K
A
T
missense
Het
probably damaging
1.000
0.249
phenotype
04/29/2015
15
312017
Mlxipl
0.471
R4018
G1
211
Y
5
135132672
Y482H
T
C
missense
Het
probably damaging
0.995
0.074
phenotype
04/29/2015
16
312013
Notch2
1.000
R4018
G1
93
Y
3
98104565
C633F
G
T
missense
Het
probably damaging
1.000
0.975
phenotype
04/29/2015
17
312037
Oc90
0.075
R4018
G1
225
Y
15
65887608
D232G
T
C
missense
Het
probably benign
0.001
0.070
phenotype
04/29/2015
18
312041
Olfr1453
0.080
R4018
G1
225
Y
19
13027825
E168G
T
C
missense
Het
probably benign
0.000
0.090
phenotype
04/29/2015
19
312024
Polr2a
0.965
R4018
G1
225
Y
11
69735059
Y1717C
T
C
missense
Het
unknown
0.087
phenotype
04/29/2015
20
312029
Prkca
0.668
R4018
G1
225
Y
11
107939602
I221F
T
A
missense
Het
probably damaging
0.997
0.170
phenotype
04/29/2015
21
312034
Rab3c
0.000
R4018
G1
213
Y
13
110084194
K144N
T
A
missense
Het
probably damaging
0.999
0.647
phenotype
04/29/2015
22
312033
Ryr2
1.000
R4018
G1
225
Y
13
11918414
N57I
T
A
missense
Het
probably damaging
0.997
0.220
phenotype
04/29/2015
23
312011
Scyl3
0.348
R4018
G1
225
Y
1
163936499
T145A
A
G
missense
Het
possibly damaging
0.835
0.345
phenotype
04/29/2015
24
312026
Sept4
0.683
R4018
G1
225
Y
11
87585121
R162Q
G
A
missense
Het
probably damaging
0.999
0.647
phenotype
04/29/2015
25
312028
Slc25a39
0.907
R4018
G1
162
N
11
102405024
L127H
A
T
missense
Het
probably damaging
1.000
phenotype
04/29/2015
26
312019
Slc9a9
0.000
R4018
G1
225
Y
9
94685163
V95A
T
C
missense
Het
probably benign
0.030
0.064
phenotype
04/29/2015
27
368237
Tsc2
1.000
R4018
G1
43
Y
17
24625281
I279V
T
C
missense
Het
probably damaging
0.994
0.647
phenotype
01/08/2016
28
312021
Usp34
0.752
R4018
G1
225
Y
11
23489033
P3532S
C
T
missense
Het
possibly damaging
0.852
0.085
04/29/2015
29
312012
Vmn2r6
0.150
R4018
G1
97
Y
3
64556472
I314V
T
C
missense
Het
probably benign
0.045
0.090
04/29/2015
30
312016
Wdr66
0.091
R4018
G1
225
Y
5
123322454
I1160V
A
G
missense
Het
probably benign
0.043
0.082
phenotype
04/29/2015
[records 1 to 30 of 30]