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Incidental Mutations
23
incidental mutations are currently displayed, and affect
23
genes.
4
are Possibly Damaging.
8
are Probably Damaging.
9
are Probably Benign.
2
are Probably Null.
0
create premature stop codons.
0
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
29017
Adm2
0.000
IGL00861
G1
15
89323285
G
A
utr 5 prime
Het
probably benign
phenotype
04/17/2013
2
8817
Ambra1
0.887
IGL00861
G1
2
91770926
D189E
T
A
missense
Het
possibly damaging
0.805
phenotype
12/06/2012
3
9112
Atg16l1
1.000
IGL00861
G1
1
87774838
G274S
G
A
missense
Het
probably damaging
1.000
phenotype
12/06/2012
4
9554
Cdh7
0.000
IGL00861
G1
1
110060988
C
A
splice site
Het
probably benign
phenotype
12/06/2012
5
9658
Chat
0.889
IGL00861
G1
14
32449023
Y173C
T
C
missense
Het
probably damaging
0.981
phenotype
12/06/2012
6
278034
Crygd
0.269
IGL00861
G1
1
65062091
R115Q
C
T
missense
Het
probably benign
0.321
phenotype
04/16/2015
7
9934
Ctnnd1
1.000
IGL00861
G1
2
84603752
D874G
T
C
missense
Het
probably damaging
0.972
phenotype
12/06/2012
8
278032
Dbt
1.000
IGL00861
G1
3
116546114
G384S
G
A
missense
Het
probably benign
0.209
phenotype
04/16/2015
9
10128
Depdc5
1.000
IGL00861
G1
5
32967814
T
C
splice site
6 bp
Het
probably null
phenotype
12/06/2012
10
278035
Eef1b2
0.000
IGL00861
G1
1
63178506
G91R
G
A
missense
Het
probably damaging
1.000
phenotype
04/16/2015
11
278033
Fut10
0.114
IGL00861
G1
8
31235705
V163F
G
T
missense
Het
probably damaging
0.968
04/16/2015
12
10964
Glmn
1.000
IGL00861
G1
5
107570139
M304K
A
T
missense
Het
possibly damaging
0.788
phenotype
12/06/2012
13
11672
Klra6
0.049
IGL00861
G1
6
130023700
V47A
A
G
missense
Het
possibly damaging
0.775
phenotype
12/06/2012
14
11750
Lgi2
0.066
IGL00861
G1
5
52538121
K491E
T
C
missense
Het
probably benign
0.000
12/06/2012
15
11836
Lrrc72
0.067
IGL00861
G1
12
36221508
Q138L
T
A
missense
Het
probably benign
0.007
12/06/2012
16
12817
Nxph2
0.065
IGL00861
G1
2
23399962
F109I
T
A
missense
Het
probably damaging
0.999
12/06/2012
17
11034
Oosp3
0.317
IGL00861
G1
19
11711640
D84G
A
G
missense
Het
probably benign
0.026
12/06/2012
18
12973
Pdzd3
0.000
IGL00861
G1
9
44249636
L211P
A
G
missense
Het
possibly damaging
0.839
phenotype
12/06/2012
19
13082
Poc1b
0.000
IGL00861
G1
10
99129652
R106C
C
T
missense
Het
probably benign
0.290
phenotype
12/06/2012
20
13210
Ptk2
1.000
IGL00861
G1
15
73262547
S568P
A
G
missense
Het
probably damaging
1.000
phenotype
12/06/2012
21
14108
Slc4a5
0.745
IGL00861
G1
6
83299471
I1093V
A
G
missense
Het
probably benign
0.000
phenotype
12/06/2012
22
14178
Snx2
0.000
IGL00861
G1
18
53210797
G
A
splice site
5 bp
Het
probably null
phenotype
12/06/2012
23
10434
Washc5
0.913
IGL00861
G1
15
59337276
T1033K
G
T
missense
Het
probably damaging
0.994
phenotype
12/06/2012
[records 1 to 23 of 23]