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Incidental Mutations
24
incidental mutations are currently displayed, and affect
23
genes.
4
are Possibly Damaging.
6
are Probably Damaging.
11
are Probably Benign.
3
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 24 of 24]
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
272057
Bap1
1.000
R3781
G1
225
N
14
31257618
I526T
T
C
missense
Het
possibly damaging
0.712
phenotype
03/25/2015
2
272044
Calcr
0.000
R3781
G1
225
N
6
3700193
T263A
T
C
missense
Het
possibly damaging
0.934
0.197
phenotype
03/25/2015
3
272034
Cdh7
0.000
R3781
G1
225
N
1
110049004
V133E
T
A
missense
Het
probably benign
0.447
0.168
phenotype
03/25/2015
4
272055
Ddx5
1.000
R3781
G1
225
N
11
106784520
I330V
T
C
missense
Het
probably benign
0.003
0.072
phenotype
03/25/2015
5
272046
Dysf
0.000
R3781
G1
225
N
6
84186509
G
A
critical splice donor site
1 bp
Het
probably null
0.949
phenotype
03/25/2015
6
272042
Gnl2
0.961
R3781
G1
225
N
4
125037606
V110A
T
C
missense
Het
probably damaging
0.989
03/25/2015
7
272061
H2-Q10
0.000
R3781
G1
225
N
17
35471018
Y179C
A
G
missense
Het
possibly damaging
0.924
0.179
phenotype
03/25/2015
8
272036
Hlx
1.000
R3781
G1
223
N
1
184731987
A52D
G
T
missense
Het
probably damaging
0.992
0.076
phenotype
03/25/2015
9
473547
Map3k20
0.000
R3781
G1
225
N
2
72402355
A
G
intron
Het
probably benign
phenotype
04/14/2017
10
272043
Mcm7
1.000
R3781
G1
225
N
5
138164736
R385W
G
A
missense
Het
probably damaging
0.986
0.090
phenotype
03/25/2015
11
272052
Mgat4c
0.000
R3781
G1
225
N
10
102388921
E332G
A
G
missense
Het
probably benign
0.252
0.152
03/25/2015
12
272059
Nudt3
0.237
R3781
G1
225
N
17
27580808
S134P
A
G
missense
Het
possibly damaging
0.827
0.072
phenotype
03/25/2015
13
272038
Olfr1186
0.084
R3781
G1
225
N
2
88526365
T261S
A
T
missense
Het
probably benign
0.233
phenotype
03/25/2015
14
272039
Olfr1212
0.074
R3781
G1
225
N
2
88958747
E94*
G
T
nonsense
Het
probably null
phenotype
03/25/2015
15
272053
Olfr385
0.129
R3781
G1
225
N
11
73589013
G242C
C
A
missense
Het
probably damaging
1.000
0.612
phenotype
03/25/2015
16
272054
Olfr385
0.129
R3781
G1
225
N
11
73589368
Y123*
A
T
nonsense
Het
probably null
0.975
phenotype
03/25/2015
17
272049
Olfr573-ps1
0.118
R3781
G1
225
N
7
102942071
I169V
T
C
missense
Het
probably benign
0.000
03/25/2015
18
272056
Pcnx
0.000
R3781
G1
225
N
12
81996118
T2325A
A
G
missense
Het
probably benign
0.001
0.061
phenotype
03/25/2015
19
272035
Plekha6
0.178
R3781
G1
153
N
1
133294655
E993G
A
G
missense
Het
probably damaging
1.000
03/25/2015
20
272040
Psmd4
1.000
R3781
G1
225
N
3
95036728
Y15F
T
A
missense
Het
probably benign
0.092
phenotype
03/25/2015
21
272041
Rad23b
1.000
R3781
G1
225
N
4
55382586
T263M
C
T
missense
Het
probably damaging
0.995
phenotype
03/25/2015
22
272037
Stpg3
0.058
R3781
G1
225
N
2
25213863
M154L
T
A
missense
Het
probably benign
0.003
0.090
03/25/2015
23
272047
Vmn1r45
0.059
R3781
G1
225
N
6
89933817
R57L
C
A
missense
Het
probably benign
0.000
03/25/2015
24
272048
Zfp658
0.000
R3781
G1
225
N
7
43573846
R515H
G
A
missense
Het
probably benign
0.000
03/25/2015
[records 1 to 24 of 24]