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Incidental Mutations
56
incidental mutations are currently displayed, and affect
56
genes.
11
are Possibly Damaging.
16
are Probably Damaging.
17
are Probably Benign.
10
are Probably Null.
2
create premature stop codons.
5
are critical splice junction mutations.
Mutations in Coding Regions/Splice Sites Identified by Next-Gen Sequencing
[records 1 to 56 of 56]
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
57428
4930550C14Rik
0.085
R0625
G1
171
N
9
53408065
S2P
T
C
missense
Het
probably benign
0.000
07/11/2013
2
57422
Abca16
0.000
R0625
G1
120
N
7
120435893
T301P
A
C
missense
Het
probably damaging
1.000
07/11/2013
3
57404
Acer2
0.156
R0625
G1
225
N
4
86887162
D121G
A
G
missense
Het
possibly damaging
0.872
phenotype
07/11/2013
4
57414
Adgrd1
0.000
R0625
G1
83
N
5
129171931
T
C
critical splice donor site
2 bp
Het
probably null
phenotype
07/11/2013
5
57395
Arhgap11a
0.000
R0625
G1
150
N
2
113841711
I249V
T
C
missense
Het
probably benign
0.006
phenotype
07/11/2013
6
57437
Arhgap22
0.000
R0625
G1
160
N
14
33366714
E219G
A
G
missense
Het
probably benign
0.015
phenotype
07/11/2013
7
57430
C2cd4b
0.000
R0625
G1
140
N
9
67759751
S10T
T
A
missense
Het
probably benign
0.270
07/11/2013
8
57432
Cnot6
0.338
R0625
G1
225
N
11
49683171
I224N
A
T
missense
Het
probably damaging
1.000
phenotype
07/11/2013
9
57408
Ctrc
0.086
R0625
G1
179
N
4
141841518
T125A
T
C
missense
Het
probably damaging
0.997
phenotype
07/11/2013
10
57447
Cxxc5
0.482
R0625
G1
185
N
18
35858589
S14R
T
G
missense
Het
unknown
phenotype
07/11/2013
11
57445
Cyp4f37
0.173
R0625
G1
225
N
17
32634678
F445L
T
G
missense
Het
probably damaging
0.999
07/11/2013
12
57431
Dcbld1
0.000
R0625
G1
225
N
10
52312850
I186S
T
G
missense
Het
probably benign
0.375
07/11/2013
13
57429
Dmxl2
1.000
R0625
G1
92
N
9
54382702
T2510A
T
C
missense
Het
probably benign
0.000
phenotype
07/11/2013
14
57421
Dnah3
0.118
R0625
G1
195
N
7
120071887
I591T
A
G
missense
Het
possibly damaging
0.676
phenotype
07/11/2013
15
57439
Dock5
0.584
R0625
G1
225
N
14
67841163
I204N
A
T
missense
Het
probably benign
0.000
phenotype
07/11/2013
16
261968
Dysf
0.000
R0625
G1
225
N
6
84111987
G
A
splice site
Het
probably null
phenotype
02/04/2015
17
57442
Erich5
0.316
R0625
G1
225
N
15
34471369
E248G
A
G
missense
Het
probably damaging
0.998
07/11/2013
18
57401
Fam160a1
1.000
R0625
G1
225
N
3
85730500
V164A
A
G
missense
Het
possibly damaging
0.843
07/11/2013
19
57418
Foxm1
1.000
R0625
G1
225
N
6
128373871
S712G
A
G
missense
Het
probably damaging
1.000
phenotype
07/11/2013
20
57403
Frmpd1
0.000
R0625
G1
161
N
4
45284055
T959A
A
G
missense
Het
probably benign
0.000
07/11/2013
21
57398
Gfra4
R0625
G1
225
N
2
131040256
V277I
C
T
missense
Het
probably null
0.051
phenotype
07/11/2013
22
57405
Hacd4
0.597
R0625
G1
225
N
4
88435010
I82V
T
C
missense
Het
probably benign
0.036
07/11/2013
23
57392
Itih2
0.109
R0625
G1
129
N
2
10123414
V159I
C
T
missense
Het
possibly damaging
0.485
phenotype
07/11/2013
24
57419
Itpr2
0.000
R0625
G1
225
N
6
146166651
M2410L
T
A
missense
Het
probably benign
0.000
0.075
phenotype
07/11/2013
25
57441
March11
0.203
R0625
G1
225
N
15
26311043
I202V
A
G
missense
Het
probably damaging
0.992
phenotype
07/11/2013
26
57448
March3
0.229
R0625
G1
109
N
18
56811830
A
G
critical splice donor site
2 bp
Het
probably null
phenotype
07/11/2013
27
57399
Med12l
0.330
R0625
G1
169
N
3
59247437
E1135K
G
A
missense
Het
probably damaging
0.999
phenotype
07/11/2013
28
57409
Mib2
0.000
R0625
G1
177
N
4
155659460
G42S
C
T
missense
Het
probably damaging
0.997
0.601
phenotype
07/11/2013
29
57434
Mlx
0.502
R0625
G1
200
N
11
101087782
L78P
T
C
missense
Het
possibly damaging
0.956
phenotype
07/11/2013
30
67049
Muc5b
0.136
R0625
G1
225
N
7
141846427
C473R
T
C
missense
Het
unknown
phenotype
08/20/2013
31
57415
N4bp2l1
0.107
R0625
G1
225
N
5
150576745
R66*
T
A
nonsense
Het
probably null
07/11/2013
32
57402
Nes
0.567
R0625
G1
225
N
3
87977172
T913A
A
G
missense
Het
possibly damaging
0.907
phenotype
07/11/2013
33
57413
Oas1a
0.000
R0625
G1
225
N
5
120899259
E235G
T
C
missense
Het
probably damaging
1.000
07/11/2013
34
57393
Olfr1104
0.896
R0625
G1
225
N
2
87021620
H308L
T
A
missense
Het
probably benign
0.000
phenotype
07/11/2013
35
57420
Olfr477
0.111
R0625
G1
225
N
7
107991189
S275P
T
C
missense
Het
probably damaging
1.000
phenotype
07/11/2013
36
57427
Olfr905
0.065
R0625
G1
225
N
9
38473208
S154P
T
C
missense
Het
possibly damaging
0.898
phenotype
07/11/2013
37
57444
Parn
0.962
R0625
G1
225
N
16
13640294
V286I
C
T
missense
Het
probably benign
0.021
phenotype
07/11/2013
38
57410
Paxip1
1.000
R0625
G1
225
N
5
27765942
Q470*
G
A
nonsense
Het
probably null
phenotype
07/11/2013
39
57407
Phc2
0.000
R0625
G1
192
N
4
128723710
H510D
C
G
missense
Het
possibly damaging
0.795
phenotype
07/11/2013
40
57396
Pla2g4f
0.072
R0625
G1
141
N
2
120305041
D384V
T
A
missense
Het
probably damaging
1.000
07/11/2013
41
57423
Plpbp
0.814
R0625
G1
100
N
8
27045131
N68I
A
T
missense
Het
probably damaging
1.000
phenotype
07/11/2013
42
57416
Podxl2
0.000
R0625
G1
225
N
6
88849955
A123V
G
A
missense
Het
possibly damaging
0.740
phenotype
07/11/2013
43
57412
Pole
1.000
R0625
G1
171
N
5
110325550
T1737S
A
T
missense
Het
possibly damaging
0.502
phenotype
07/11/2013
44
57440
Ppp3cc
0.000
R0625
G1
225
N
14
70225027
E396G
T
C
missense
Het
probably damaging
0.987
phenotype
07/11/2013
45
57394
Pramel7
0.061
R0625
G1
225
N
2
87491008
I228F
T
A
missense
Het
probably benign
0.019
07/11/2013
46
57436
Prl7d1
0.000
R0625
G1
202
N
13
27710140
C149S
A
T
missense
Het
probably benign
0.102
07/11/2013
47
57426
Qtrt1
0.453
R0625
G1
153
N
9
21418288
M217I
G
T
missense
Het
probably benign
0.431
phenotype
07/11/2013
48
57433
Sec24a
0.000
R0625
G1
169
N
11
51729454
D456V
T
A
missense
Het
probably damaging
0.980
phenotype
07/11/2013
49
57400
Shox2
1.000
R0625
G1
198
N
3
66981544
T
G
critical splice donor site
2 bp
Het
probably null
phenotype
07/11/2013
50
57406
Skint2
0.062
R0625
G1
225
N
4
112624086
S49T
T
A
missense
Het
probably damaging
1.000
07/11/2013
51
57425
Smarca5
1.000
R0625
G1
97
N
8
80720686
A
G
critical splice donor site
2 bp
Het
probably null
phenotype
07/11/2013
52
57411
Sorcs2
0.000
R0625
G1
151
N
5
36024572
D1068V
T
A
missense
Het
possibly damaging
0.653
phenotype
07/11/2013
53
261969
Tmem114
0.000
R0625
G1
225
N
16
8412102
T
C
splice site
Het
probably null
phenotype
02/04/2015
54
57435
Ttc7b
0.324
R0625
G1
198
N
12
100355046
M24L
T
A
missense
Het
probably benign
0.040
07/11/2013
55
57417
Ttll3
0.000
R0625
G1
142
N
6
113408903
A
G
critical splice acceptor site
Het
probably null
phenotype
07/11/2013
56
57443
Usp7
1.000
R0625
G1
151
N
16
8704982
D102N
C
T
missense
Het
probably benign
0.001
phenotype
07/11/2013
[records 1 to 56 of 56]