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Incidental Mutations
35
incidental mutations are currently displayed, and affect
35
genes.
8
are Possibly Damaging.
13
are Probably Damaging.
12
are Probably Benign.
2
are Probably Null.
1
create premature stop codons.
1
are critical splice junction mutations.
Mutations in Coding Regions/Splice Sites Identified by Next-Gen Sequencing
[records 1 to 35 of 35]
10
25
50
100
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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
516734
Abhd8
0.000
R6474
G1
84.01
Y
8
71461715
N90Y
T
A
missense
Het
probably damaging
0.997
0.251
phenotype
05/21/2018
2
516717
Alkal1
0.166
R6474
G1
225.01
Y
1
6389446
V82A
T
C
missense
Het
probably damaging
0.998
0.084
05/21/2018
3
516740
Ascc3
0.957
R6474
G1
225.01
Y
10
50748836
S1607P
T
C
missense
Het
probably benign
0.007
0.108
phenotype
05/21/2018
4
516750
Ccny
0.139
R6474
G1
225.01
Y
18
9345427
L149H
A
T
missense
Het
probably damaging
1.000
0.172
phenotype
05/21/2018
5
516727
Clptm1
0.939
R6474
G1
225.01
Y
7
19635837
N383D
T
C
missense
Het
possibly damaging
0.945
05/21/2018
6
516726
Clrn2
0.120
R6474
G1
225.01
Y
5
45463732
M156K
T
A
missense
Het
probably benign
0.038
0.090
phenotype
05/21/2018
7
516738
Coro2b
0.092
R6474
G1
225.01
Y
9
62426628
H328L
T
A
missense
Het
probably benign
0.157
0.327
phenotype
05/21/2018
8
516732
Echs1
0.804
R6474
G1
225.01
Y
7
140108142
M250K
A
T
missense
Het
probably benign
0.439
phenotype
05/21/2018
9
516737
Ecsit
1.000
R6474
G1
225.01
Y
9
22074685
V145A
A
G
missense
Het
possibly damaging
0.906
0.432
phenotype
05/21/2018
10
516751
Fas
0.091
R6474
G1
225.01
Y
19
34316569
G108D
G
A
missense
Het
probably damaging
0.999
0.822
phenotype
05/21/2018
11
516730
Folh1
0.000
R6474
G1
225.01
Y
7
86775756
W2R
A
G
missense
Het
probably damaging
0.994
0.203
phenotype
05/21/2018
12
516723
Gba
0.830
R6474
G1
225.01
Y
3
89204081
P51L
C
T
missense
Het
probably benign
0.123
0.205
phenotype
05/21/2018
13
516739
Grik2
0.000
R6474
G1
225.01
Y
10
49132680
M770I
C
T
missense
Het
probably benign
0.000
0.060
phenotype
05/21/2018
14
516728
Hcst
0.000
R6474
G1
153.01
Y
7
30417825
N74S
T
C
missense
Het
probably damaging
0.998
phenotype
05/21/2018
15
516743
Hdac9
0.000
R6474
G1
225.01
Y
12
34431991
T
A
critical splice acceptor site
Het
probably null
0.949
phenotype
05/21/2018
16
516718
Hsfy2
0.050
R6474
G1
225.01
Y
1
56636991
D129V
T
A
missense
Het
probably damaging
0.970
0.427
05/21/2018
17
516725
Htt
1.000
R6474
G1
225.01
Y
5
34824895
V941A
T
C
missense
Het
probably benign
0.064
0.074
phenotype
05/21/2018
18
516746
Naip5
0.127
R6474
G1
225.01
Y
13
100214663
V1279A
A
G
missense
Het
possibly damaging
0.820
0.171
phenotype
05/21/2018
19
516720
Neb
0.894
R6474
G1
225.01
Y
2
52280612
M1683L
T
A
missense
Het
probably benign
0.001
0.073
phenotype
05/21/2018
20
516735
Nudt21
1.000
R6474
G1
225.01
Y
8
94019654
V139I
C
T
missense
Het
probably benign
0.017
0.085
phenotype
05/21/2018
21
516731
Olfr513
0.177
R6474
G1
225.01
Y
7
108755029
Y58H
T
C
missense
Het
probably damaging
0.998
0.647
phenotype
05/21/2018
22
516721
Pex2
1.000
R6474
G1
225.01
Y
3
5561131
F206S
A
G
missense
Het
probably damaging
0.998
phenotype
05/21/2018
23
516744
Plek2
0.075
R6474
G1
225.01
Y
12
78896291
R77L
C
A
missense
Het
probably benign
0.082
phenotype
05/21/2018
24
516733
Ppfia1
0.929
R6474
G1
225.01
Y
7
144506205
D623E
A
T
missense
Het
possibly damaging
0.894
phenotype
05/21/2018
25
516722
Ppm1l
0.138
R6474
G1
225.01
Y
3
69553041
I317N
T
A
missense
Het
probably damaging
0.991
0.710
phenotype
05/21/2018
26
516724
Prkacb
0.685
R6474
G1
225.01
Y
3
146755724
T36S
T
A
missense
Het
probably damaging
1.000
phenotype
05/21/2018
27
516719
Sphkap
0.073
R6474
G1
225.01
Y
1
83278823
I115F
T
A
missense
Het
probably damaging
0.997
05/21/2018
28
516736
Sprtn
0.957
R6474
G1
183.01
Y
8
124899134
E95*
G
T
nonsense
Het
probably null
phenotype
05/21/2018
29
516747
St3gal1
0.100
R6474
G1
225.01
Y
15
67111346
V187A
A
G
missense
Het
possibly damaging
0.524
0.453
phenotype
05/21/2018
30
516742
Tcap
0.000
R6474
G1
225.01
Y
11
98384177
Q46K
C
A
missense
Het
probably benign
0.025
0.078
phenotype
05/21/2018
31
516749
Thada
0.000
R6474
G1
225.01
Y
17
84443911
I546V
T
C
missense
Het
possibly damaging
0.826
phenotype
05/21/2018
32
516745
Tubal3
0.152
R6474
G1
225.01
Y
13
3933107
S296T
T
A
missense
Het
probably benign
0.104
0.110
05/21/2018
33
516729
Ube3a
0.617
R6474
G1
225.01
Y
7
59287024
N683D
A
G
missense
Het
probably damaging
1.000
0.958
phenotype
05/21/2018
34
516741
Vmn2r82
0.071
R6474
G1
225.01
Y
10
79379037
L285V
T
G
missense
Het
possibly damaging
0.545
05/21/2018
35
516748
Zfp871
1.000
R6474
G1
225.01
Y
17
32775673
D157G
T
C
missense
Het
possibly damaging
0.845
05/21/2018
[records 1 to 35 of 35]