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Incidental Mutations
23
incidental mutations are currently displayed, and affect
23
genes.
7
are Possibly Damaging.
5
are Probably Damaging.
8
are Probably Benign.
3
are Probably Null.
0
create premature stop codons.
1
are critical splice junction mutations.
Mutations in Coding Regions/Splice Sites Identified by Next-Gen Sequencing
[records 1 to 23 of 23]
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
243298
Adam22
1.000
R2286
G1
225
N
5
8145616
R308H
C
T
missense
Het
probably damaging
0.998
phenotype
10/16/2014
2
243299
Alox5ap
0.236
R2286
G1
225
N
5
149285430
G
A
splice site
5 bp
Het
probably null
phenotype
10/16/2014
3
243301
Ap2s1
0.943
R2286
G1
225
N
7
16748976
V131A
T
C
missense
Het
possibly damaging
0.610
phenotype
10/16/2014
4
243310
Cdr2l
0.156
R2286
G1
217
N
11
115392800
GAA
GA
frame shift
Het
probably null
10/16/2014
5
243318
Cpsf7
0.000
R2286
G1
204
N
19
10535296
L248P
T
C
missense
Het
probably damaging
0.988
phenotype
10/16/2014
6
243313
Dscr3
0.103
R2286
G1
225
N
16
94512253
E60K
C
T
missense
Het
possibly damaging
0.692
phenotype
10/16/2014
7
243296
Dtd1
R2286
G1
225
N
2
144635866
T
C
critical splice donor site
2 bp
Het
probably null
phenotype
10/16/2014
8
243315
Eci1
0.163
R2286
G1
225
N
17
24433229
D75G
A
G
missense
Het
probably damaging
0.988
phenotype
10/16/2014
9
243308
Kremen1
0.118
R2286
G1
158
N
11
5201791
CGGG
CGGGGGG
unclassified
Het
probably benign
phenotype
10/16/2014
10
243316
Luc7l
0.224
R2286
G1
225
N
17
26280046
A
G
utr 3 prime
Het
probably benign
phenotype
10/16/2014
11
243309
Med13
0.952
R2286
G1
225
N
11
86319689
D542E
A
C
missense
Het
probably benign
0.054
phenotype
10/16/2014
12
243304
Myo6
0.000
R2286
G1
225
N
9
80266212
S545P
T
C
missense
Het
possibly damaging
0.817
phenotype
10/16/2014
13
243312
Naip6
0.124
R2286
G1
133
N
13
100300600
A472T
C
T
missense
Het
probably benign
0.077
0.407
phenotype
10/16/2014
14
243295
Olfr1281
0.082
R2286
G1
225
N
2
111328907
I163V
A
G
missense
Het
probably benign
0.012
phenotype
10/16/2014
15
243311
Rsad2
0.000
R2286
G1
225
N
12
26450676
N204I
T
A
missense
Het
probably benign
0.198
phenotype
10/16/2014
16
243300
Setd5
1.000
R2286
G1
225
N
6
113119610
N592K
T
G
missense
Het
possibly damaging
0.692
phenotype
10/16/2014
17
243297
Sgip1
0.000
R2286
G1
225
N
4
102867647
S59I
G
T
missense
Het
possibly damaging
0.950
phenotype
10/16/2014
18
243306
Slc39a5
0.000
R2286
G1
225
N
10
128396060
V532A
A
G
missense
Het
probably benign
0.001
phenotype
10/16/2014
19
243307
Smarcc2
0.890
R2286
G1
225
N
10
128463743
M123I
G
A
missense
Het
possibly damaging
0.585
phenotype
10/16/2014
20
243319
Tdrd1
0.550
R2286
G1
225
N
19
56839119
T185A
A
G
missense
Het
probably benign
0.047
phenotype
10/16/2014
21
243294
Tnn
0.500
R2286
G1
225
N
1
160110509
E1146G
T
C
missense
Het
possibly damaging
0.894
10/16/2014
22
243303
Unc13a
1.000
R2286
G1
225
N
8
71630559
K1618E
T
C
missense
Het
probably damaging
0.998
phenotype
10/16/2014
23
243317
Vmn2r120
0.077
R2286
G1
225
N
17
57508958
L799P
A
G
missense
Het
probably damaging
1.000
10/16/2014
[records 1 to 23 of 23]