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Incidental Mutations
20
incidental mutations are currently displayed, and affect
20
genes.
2
are Possibly Damaging.
9
are Probably Damaging.
6
are Probably Benign.
3
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 20 of 20]
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
257428
0610009O20Rik
0.235
R3005
G1
225
N
18
38259959
N405K
T
A
missense
Het
possibly damaging
0.919
01/11/2015
2
257417
4931406P16Rik
0.000
R3005
G1
225
N
7
34284784
E138G
T
C
missense
Het
probably damaging
1.000
01/11/2015
3
257420
Cep162
0.152
R3005
G1
225
N
9
87232060
V320L
C
A
missense
Het
probably benign
0.001
01/11/2015
4
257411
Cnga1
0.240
R3005
G1
225
N
5
72605107
I355F
T
A
missense
Het
probably damaging
1.000
phenotype
01/11/2015
5
257424
Csnk1e
0.000
R3005
G1
225
N
15
79438805
I15V
T
C
missense
Het
probably benign
0.421
phenotype
01/11/2015
6
257408
Exosc8
1.000
R3005
G1
225
N
3
54732147
T
C
splice site
Het
probably null
phenotype
01/11/2015
7
257409
Gstm3
0.099
R3005
G1
225
N
3
107967607
Q110K
G
T
missense
Het
probably benign
0.029
01/11/2015
8
257421
Hace1
0.254
R3005
G1
225
N
10
45648863
G242R
G
A
missense
Het
probably damaging
0.964
phenotype
01/11/2015
9
257406
Lcn6
0.088
R3005
G1
213
N
2
25677249
T
A
splice site
28 bp
Het
probably null
phenotype
01/11/2015
10
257427
Msh6
1.000
R3005
G1
225
N
17
87988285
E1088G
A
G
missense
Het
probably benign
0.342
phenotype
01/11/2015
11
257415
Nlrp4c
0.068
R3005
G1
225
N
7
6065525
V142M
G
A
missense
Het
probably benign
0.285
01/11/2015
12
257425
Nup50
1.000
R3005
G1
225
N
15
84929460
G
A
splice site
5 bp
Het
probably null
phenotype
01/11/2015
13
257419
Olfr577
0.141
R3005
G1
225
N
7
102973258
V245I
C
T
missense
Het
possibly damaging
0.559
phenotype
01/11/2015
14
257405
Ppp2r5a
0.191
R3005
G1
225
N
1
191358976
F218Y
A
T
missense
Het
probably damaging
0.996
phenotype
01/11/2015
15
257418
Ptov1
0.321
R3005
G1
225
N
7
44864462
N52S
T
C
missense
Het
probably damaging
0.990
phenotype
01/11/2015
16
257407
Rif1
1.000
R3005
G1
225
N
2
52082764
A303T
G
A
missense
Het
probably damaging
1.000
phenotype
01/11/2015
17
257410
Ror1
1.000
R3005
G1
225
N
4
100441764
V778E
T
A
missense
Het
probably damaging
0.989
phenotype
01/11/2015
18
257414
Tcaf3
0.049
R3005
G1
225
N
6
42594044
L258H
A
T
missense
Het
probably damaging
1.000
01/11/2015
19
257422
Utp20
0.958
R3005
G1
225
N
10
88777455
K1321N
C
A
missense
Het
probably damaging
0.970
phenotype
01/11/2015
20
257416
Vmn2r54
0.118
R3005
G1
225
N
7
12615294
Q787L
T
A
missense
Het
probably benign
0.281
01/11/2015
[records 1 to 20 of 20]