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Incidental Mutations
64
incidental mutations are currently displayed, and affect
63
genes.
18
are Possibly Damaging.
19
are Probably Damaging.
20
are Probably Benign.
5
are Probably Null.
2
create premature stop codons.
0
are critical splice junction mutations.
Mutations in Coding Regions/Splice Sites Identified by Next-Gen Sequencing
[records 1 to 64 of 64]
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
269023
0610009O20Rik
0.218
R3552
G1
225
Y
18
38258365
A
G
splice site
Het
probably benign
02/19/2015
2
269012
Acaca
1.000
R3552
G1
225
Y
11
84261624
Y866N
T
A
missense
Het
probably damaging
1.000
0.897
phenotype
02/19/2015
3
268988
Agk
0.688
R3552
G1
225
Y
6
40394681
T371A
A
G
missense
Het
probably benign
0.000
0.067
phenotype
02/19/2015
4
268978
Akna
0.109
R3552
G1
225
Y
4
63398124
M1V
T
C
start codon destroyed
Het
probably null
0.528
0.962
phenotype
02/19/2015
5
269024
Aldh7a1
0.134
R3552
G1
127
Y
18
56550292
T
C
splice site
4 bp
Het
probably null
0.976
phenotype
02/19/2015
6
268993
Ankrd26
0.000
R3552
G1
225
Y
6
118507776
L1500H
A
T
missense
Het
probably damaging
1.000
0.159
phenotype
02/19/2015
7
269021
Atp13a5
0.000
R3552
G1
225
Y
16
29310766
D452V
T
A
missense
Het
probably damaging
1.000
0.546
phenotype
02/19/2015
8
269013
Bahcc1
0.895
R3552
G1
225
Y
11
120276772
T1333M
C
T
missense
Het
possibly damaging
0.905
0.179
phenotype
02/19/2015
9
269016
Carmil3
0.303
R3552
G1
225
Y
14
55507402
R1276L
G
T
missense
Het
possibly damaging
0.863
0.179
02/19/2015
10
268984
Ccni
0.000
R3552
G1
225
Y
5
93187761
S173G
T
C
missense
Het
probably benign
0.055
0.064
phenotype
02/19/2015
11
268987
Chrm2
0.090
R3552
G1
225
Y
6
36523810
I201F
A
T
missense
Het
probably damaging
1.000
0.745
phenotype
02/19/2015
12
268981
Col16a1
0.095
R3552
G1
140
Y
4
130077041
T618A
A
G
missense
Het
probably benign
0.098
0.062
phenotype
02/19/2015
13
269006
Dock2
0.000
R3552
G1
225
Y
11
34720960
Y192C
T
C
missense
Het
probably benign
0.218
0.090
phenotype
02/19/2015
14
268986
Ep400
1.000
R3552
G1
225
Y
5
110729287
E821V
T
A
missense
Het
unknown
0.113
phenotype
02/19/2015
15
268968
Esrrg
1.000
R3552
G1
225
Y
1
188150190
V215I
G
A
missense
Het
probably benign
0.050
0.089
phenotype
02/19/2015
16
353168
Evx1
0.393
R3552
G1
71
Y
6
52316923
S359C
A
T
missense
Het
probably damaging
0.993
0.103
phenotype
10/21/2015
17
268977
Fcrls
0.058
R3552
G1
225
Y
3
87259410
I92T
A
G
missense
Het
possibly damaging
0.734
0.097
phenotype
02/19/2015
18
269005
Gal3st1
0.000
R3552
G1
220
Y
11
3998110
F106I
T
A
missense
Het
possibly damaging
0.900
0.716
phenotype
02/19/2015
19
268982
Gm9944
0.085
R3552
G1
225
Y
4
144453043
T
C
unclassified
Het
probably benign
0.090
02/19/2015
20
268966
Hjurp
0.911
R3552
G1
217
Y
1
88266524
GT
GTT
nonsense
Het
probably null
0.976
02/19/2015
21
268995
Hrc
0.000
R3552
G1
225
Y
7
45336333
E303Q
G
C
missense
Het
possibly damaging
0.719
0.179
phenotype
02/19/2015
22
268969
Kcnh1
0.174
R3552
G1
225
Y
1
192238766
N118D
A
G
missense
Het
probably damaging
1.000
0.418
phenotype
02/19/2015
23
268980
Khdrbs1
0.615
R3552
G1
225
Y
4
129720791
I323T
A
G
missense
Het
possibly damaging
0.861
0.061
phenotype
02/19/2015
24
269020
Klhdc7b
0.236
R3552
G1
225
Y
15
89387521
Y869H
T
C
missense
Het
probably benign
0.016
0.090
02/19/2015
25
268973
Lrrc4c
0.105
R3552
G1
225
Y
2
97629961
W311R
T
A
missense
Het
probably damaging
1.000
0.951
phenotype
02/19/2015
26
269001
Megf11
0.198
R3552
G1
195
Y
9
64695463
D862G
A
G
missense
Het
possibly damaging
0.745
0.066
phenotype
02/19/2015
27
268997
Muc5b
0.136
R3552
G1
225
Y
7
141861335
T2673A
A
G
missense
Het
possibly damaging
0.528
0.179
phenotype
02/19/2015
28
268998
Muc5b
0.136
R3552
G1
225
Y
7
141867705
S4311G
A
G
missense
Het
probably benign
0.177
0.090
phenotype
02/19/2015
29
269009
Myo15
0.000
R3552
G1
185
Y
11
60509663
A1767V
C
T
missense
Het
possibly damaging
0.933
0.068
phenotype
02/19/2015
30
269000
Neo1
1.000
R3552
G1
225
Y
9
58893878
K1140M
T
A
missense
Het
probably damaging
1.000
0.647
phenotype
02/19/2015
31
269017
Oc90
0.080
R3552
G1
225
Y
15
65878801
Q365R
T
C
missense
Het
possibly damaging
0.810
0.064
phenotype
02/19/2015
32
268971
Olfr1012
0.079
R3552
G1
225
Y
2
85759893
N161S
T
C
missense
Het
possibly damaging
0.458
0.179
phenotype
02/19/2015
33
269010
Olfr378
0.156
R3552
G1
225
Y
11
73425852
I44V
T
C
missense
Het
probably benign
0.003
0.090
phenotype
02/19/2015
34
268972
Olfr48
0.073
R3552
G1
225
Y
2
89844343
M210R
A
C
missense
Het
possibly damaging
0.527
0.179
phenotype
02/19/2015
35
269018
Oplah
0.099
R3552
G1
225
Y
15
76302094
D734N
C
T
missense
Het
possibly damaging
0.780
0.351
phenotype
02/19/2015
36
268967
Pbx1
1.000
R3552
G1
225
Y
1
168158793
P411L
G
A
missense
Het
possibly damaging
0.884
0.150
phenotype
02/19/2015
37
473135
Pcdhga6
0.095
R3552
G1
225
N
18
37708217
R330L
G
T
missense
Het
probably benign
0.424
phenotype
04/14/2017
38
473127
Phox2b
1.000
R3552
G1
225
N
5
67097656
R150L
C
A
missense
Het
probably damaging
0.982
phenotype
04/14/2017
39
269002
Plscr2
0.000
R3552
G1
225
Y
9
92290795
E169G
A
G
missense
Het
probably damaging
1.000
0.908
02/19/2015
40
269014
Ptprn2
0.292
R3552
G1
225
Y
12
116888877
Q518L
A
T
missense
Het
probably benign
0.001
0.090
phenotype
02/19/2015
41
268976
Rbl1
0.000
R3552
G1
225
Y
2
157195585
I214K
A
T
missense
Het
probably benign
0.185
0.090
phenotype
02/19/2015
42
268994
Ryr1
1.000
R3552
G1
225
Y
7
29056997
Q3464L
T
A
missense
Het
probably damaging
0.999
0.076
phenotype
02/19/2015
43
268974
Ryr3
0.337
R3552
G1
225
Y
2
112751787
I2854F
T
A
missense
Het
probably damaging
0.999
0.176
phenotype
02/19/2015
44
269027
Shtn1
0.000
R3552
G1
225
Y
19
58975038
Y615C
T
C
missense
Het
probably benign
0.276
0.090
02/19/2015
45
269015
Sirt5
0.000
R3552
G1
225
Y
13
43383167
N226Y
A
T
missense
Het
probably damaging
0.998
0.155
phenotype
02/19/2015
46
268983
Slc30a3
0.264
R3552
G1
216
Y
5
31095078
G
A
intron
Het
probably benign
0.090
phenotype
02/19/2015
47
269003
Slc5a4b
0.111
R3552
G1
225
Y
10
76081524
V226A
A
G
missense
Het
probably damaging
0.989
0.509
02/19/2015
48
269026
Slf2
0.890
R3552
G1
225
Y
19
44934951
S68*
C
A
nonsense
Het
probably null
0.976
02/19/2015
49
268991
Smyd5
0.000
R3552
G1
225
Y
6
85442211
E292K
G
A
missense
Het
probably damaging
0.994
0.465
02/19/2015
50
268996
Spns1
1.000
R3552
G1
212
Y
7
126370371
V512A
A
G
missense
Het
possibly damaging
0.943
0.061
phenotype
02/19/2015
51
269028
Sry
0.318
R3552
G1
222
Y
Y
2663141
Q173L
T
A
missense
Het
unknown
0.087
phenotype
02/19/2015
52
268970
Ssrp1
1.000
R3552
G1
225
Y
2
85044392
Q519K
C
A
missense
Het
probably benign
0.000
0.058
phenotype
02/19/2015
53
268985
Tgfbr3
1.000
R3552
G1
225
Y
5
107139839
E498G
T
C
missense
Het
probably damaging
0.990
0.244
phenotype
02/19/2015
54
269019
Tnrc6b
0.192
R3552
G1
225
Y
15
80880247
L650W
T
G
missense
Het
probably damaging
1.000
0.577
phenotype
02/19/2015
55
269022
Tnxb
0.000
R3552
G1
225
Y
17
34718721
E3861D
A
T
missense
Het
probably damaging
0.999
0.647
phenotype
02/19/2015
56
473128
Trbc1
0.126
R3552
G1
198
N
6
41539645
G
T
unclassified
Het
probably benign
04/14/2017
57
268975
Trpm7
1.000
R3552
G1
225
Y
2
126826710
T
A
splice site
Het
probably benign
phenotype
02/19/2015
58
268990
Usp39
0.967
R3552
G1
225
Y
6
72337832
T197I
G
A
missense
Het
possibly damaging
0.633
0.642
02/19/2015
59
268989
Vmn1r38
0.178
R3552
G1
225
Y
6
66776493
H213R
T
C
missense
Het
possibly damaging
0.949
0.179
02/19/2015
60
268992
Washc2
1.000
R3552
G1
225
Y
6
116220568
D168G
A
G
missense
Het
probably damaging
0.999
0.647
02/19/2015
61
269004
Washc4
0.891
R3552
G1
225
Y
10
83546856
I45V
A
G
missense
Het
probably benign
0.446
0.070
phenotype
02/19/2015
62
268979
Zfp352
0.000
R3552
G1
225
Y
4
90225102
E493G
A
G
missense
Het
probably benign
0.329
0.090
02/19/2015
63
269008
Zfp692
0.000
R3552
G1
225
Y
11
58309428
T170I
C
T
missense
Het
possibly damaging
0.524
0.179
02/19/2015
64
269011
Zfp735
0.075
R3552
G1
225
Y
11
73711241
S337*
C
A
nonsense
Het
probably null
0.976
02/19/2015
[records 1 to 64 of 64]