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Incidental Mutations
65
incidental mutations are currently displayed, and affect
64
genes.
10
are Possibly Damaging.
19
are Probably Damaging.
26
are Probably Benign.
10
are Probably Null.
4
create premature stop codons.
3
are critical splice junction mutations.
Mutations in Coding Regions/Splice Sites Identified by Next-Gen Sequencing
[records 1 to 65 of 65]
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
21932
Ap4b1
0.279
R0136
G1
225
Y
3
103809946
M1T
T
C
start codon destroyed
Het
probably null
1.000
0.963
phenotype
04/12/2013
2
21973
Arg2
0.000
R0136
G1
225
Y
12
79150006
L167P
T
C
missense
Het
probably damaging
1.000
0.775
phenotype
04/12/2013
3
21975
Atxn1
0.000
R0136
G1
225
Y
13
45567169
S417P
A
G
missense
Het
probably damaging
0.990
0.105
phenotype
04/12/2013
4
21928
Baz2b
0.257
R0136
G1
225
Y
2
59901954
V1949A
A
G
missense
Het
probably benign
0.221
0.083
phenotype
04/12/2013
5
21951
Bcl3
0.000
R0136
G1
133
Y
7
19809569
V324A
A
G
missense
Het
probably damaging
0.997
0.322
phenotype
04/12/2013
6
21953
Btbd10
0.315
R0136
G1
225
Y
7
113329878
S230T
A
T
missense
Het
possibly damaging
0.543
0.155
04/12/2013
7
21938
Camta1
0.619
R0136
G1
225
Y
4
151078969
S1479P
A
G
missense
Het
probably damaging
0.990
0.318
phenotype
04/12/2013
8
21949
Cd69
0.087
R0136
G1
225
Y
6
129270062
S64N
C
T
missense
Het
probably benign
0.006
0.110
phenotype
04/12/2013
9
21926
Col5a1
1.000
R0136
G1
225
Y
2
28024831
L153P
T
C
missense
Het
probably damaging
1.000
0.695
phenotype
04/12/2013
10
21927
Crat
0.195
R0136
G1
225
Y
2
30407030
V304L
C
A
missense
Het
probably benign
0.000
0.117
phenotype
04/12/2013
11
21981
Csmd3
0.000
R0136
G1
98
Y
15
47847131
T1687A
T
C
missense
Het
probably benign
0.078
0.072
04/12/2013
12
21979
Dnah1
0.000
R0136
G1
117
Y
14
31276158
G2574D
C
T
missense
Het
probably damaging
1.000
0.700
phenotype
04/12/2013
13
21990
Fau
R0136
G1
225
Y
19
6059180
V86A
T
C
missense
Het
possibly damaging
0.611
0.107
phenotype
04/12/2013
14
21986
Garem1
0.174
R0136
G1
225
Y
18
21129991
S589R
T
G
missense
Het
probably damaging
0.960
0.065
phenotype
04/12/2013
15
21933
Gbp3
0.000
R0136
G1
225
N
3
142564101
T
G
splice site
Het
probably null
phenotype
04/12/2013
16
21924
Gin1
0.000
R0136
G1
225
Y
1
97783016
S141R
T
A
missense
Het
possibly damaging
0.858
0.236
04/12/2013
17
21952
Gtf2h1
0.968
R0136
G1
225
N
7
46815416
Q419L
A
T
missense
Het
possibly damaging
0.488
04/12/2013
18
21929
Hipk3
0.000
R0136
G1
225
Y
2
104439293
I517T
A
G
missense
Het
probably benign
0.021
0.090
phenotype
04/12/2013
19
21962
Hivep2
0.885
R0136
G1
225
Y
10
14131878
S1407P
T
C
missense
Het
probably benign
0.044
0.071
phenotype
04/12/2013
20
21976
Hnrnpk
0.890
R0136
G1
225
Y
13
58395177
D211E
G
T
missense
Het
probably benign
0.010
0.090
phenotype
04/12/2013
21
21991
Hnrnpul2
0.743
R0136
G1
225
Y
19
8826801
L588P
T
C
missense
Het
probably damaging
1.000
0.487
04/12/2013
22
21921
Il18rap
0.000
R0136
G1
225
Y
1
40525058
H112L
A
T
missense
Het
probably benign
0.035
0.084
phenotype
04/12/2013
23
21957
Itgb1
1.000
R0136
G1
225
Y
8
128722854
Y585D
T
G
missense
Het
possibly damaging
0.956
0.840
phenotype
04/12/2013
24
21983
Kmt2d
1.000
R0136
G1
225
Y
15
98854278
C
T
unclassified
Het
probably benign
0.063
phenotype
04/12/2013
25
21936
Map7d1
0.870
R0136
G1
177
N
4
126236631
A
T
critical splice donor site
2 bp
Het
probably null
04/12/2013
26
21988
Me2
0.000
R0136
G1
225
Y
18
73770673
S575P
A
G
missense
Het
probably benign
0.000
0.076
phenotype
04/12/2013
27
21943
Med13l
0.962
R0136
G1
225
Y
5
118724050
T353A
A
G
missense
Het
probably benign
0.151
0.059
phenotype
04/12/2013
28
21965
Mgat4b
0.000
R0136
G1
192
Y
11
50231081
V143A
T
C
missense
Het
possibly damaging
0.911
0.120
phenotype
04/12/2013
29
21945
Mlxip
0.212
R0136
G1
225
Y
5
123442306
W211R
T
A
missense
Het
probably damaging
0.999
0.905
phenotype
04/12/2013
30
261802
Morc2a
1.000
R0136
G1
225
N
11
3685907
T
G
splice site
25 bp
Het
probably null
phenotype
02/04/2015
31
65804
Muc4
0.093
R0136
G1
225
N
16
32750195
A
T
critical splice acceptor site
Het
probably benign
0.090
phenotype
08/19/2013
32
21922
Ndufa10
1.000
R0136
G1
225
Y
1
92463128
Y233*
A
T
nonsense
Het
probably null
0.976
phenotype
04/12/2013
33
21970
Nek8
0.873
R0136
G1
211
Y
11
78171207
S237N
C
T
missense
Het
probably benign
0.014
0.082
phenotype
04/12/2013
34
21989
Neto1
0.000
R0136
G1
225
Y
18
86461320
R211Q
G
A
missense
Het
probably benign
0.168
0.081
phenotype
04/12/2013
35
21954
Nfatc2ip
0.234
R0136
G1
225
Y
7
126391335
S165P
A
G
missense
Het
probably benign
0.108
0.115
phenotype
04/12/2013
36
21941
Nsd2
0.847
R0136
G1
225
Y
5
33855536
K404E
A
G
missense
Het
possibly damaging
0.889
0.062
phenotype
04/12/2013
37
21956
Nsd3
0.187
R0136
G1
225
Y
8
25659854
E352*
G
T
nonsense
Het
probably null
0.976
phenotype
04/12/2013
38
60923
Nudt9
0.173
R0136
G1
118
N
5
104047106
T23A
A
G
missense
Het
probably benign
0.000
0.096
phenotype
07/24/2013
39
21968
Olfr394
0.215
R0136
G1
225
N
11
73887785
M196V
T
C
missense
Het
probably benign
0.002
0.090
phenotype
04/12/2013
40
21969
Olfr394
0.215
R0136
G1
225
N
11
73887830
V181I
C
T
missense
Het
probably benign
0.113
0.090
phenotype
04/12/2013
41
21959
Olfr983
0.085
R0136
G1
225
Y
9
40092019
*312Q
A
G
makesense
Het
probably null
0.976
phenotype
04/12/2013
42
21934
Patj
0.000
R0136
G1
225
Y
4
98667648
Q297K
C
A
missense
Het
probably damaging
0.995
0.634
phenotype
04/12/2013
43
21978
Pelo
0.957
R0136
G1
225
Y
13
115088903
C40*
A
T
nonsense
Het
probably null
0.976
phenotype
04/12/2013
44
21982
Pnpla3
0.000
R0136
G1
225
Y
15
84174478
G
A
critical splice donor site
1 bp
Het
probably null
0.947
phenotype
04/12/2013
45
21937
Pramel1
0.000
R0136
G1
225
Y
4
143397446
N230K
C
A
missense
Het
probably damaging
0.998
0.647
04/12/2013
46
21950
Psg20
0.048
R0136
G1
225
Y
7
18682507
L228R
A
C
missense
Het
probably damaging
0.978
0.533
04/12/2013
47
21946
Rsph10b
0.068
R0136
G1
225
Y
5
143959821
F44L
T
C
missense
Het
probably benign
0.048
0.064
04/12/2013
48
21923
Sept2
0.896
R0136
G1
120
Y
1
93507050
G358R
G
A
missense
Het
possibly damaging
0.568
0.101
04/12/2013
49
98735
Slamf7
0.050
R0136
G1
225
N
1
171648931
G
A
unclassified
Het
probably benign
phenotype
01/09/2014
50
21984
Slc12a8
0.000
R0136
G1
225
Y
16
33608213
D297G
A
G
missense
Het
probably damaging
0.999
0.371
phenotype
04/12/2013
51
21961
Slc17a5
0.700
R0136
G1
211
N
9
78578674
A43V
G
A
missense
Het
probably damaging
1.000
0.249
phenotype
04/12/2013
52
21985
Slc22a1
0.000
R0136
G1
225
Y
17
12662596
F335L
A
T
missense
Het
probably benign
0.030
0.135
phenotype
04/12/2013
53
21940
Slc26a5
0.000
R0136
G1
225
Y
5
21834347
N216S
T
C
missense
Het
probably damaging
0.999
0.119
phenotype
04/12/2013
54
21948
Snrnp27
1.000
R0136
G1
225
Y
6
86676205
S144G
T
C
missense
Het
probably benign
0.074
0.090
phenotype
04/12/2013
55
21971
Spata20
0.300
R0136
G1
189
Y
11
94480609
D643V
T
A
missense
Het
probably damaging
1.000
0.973
04/12/2013
56
21987
Spata24
0.628
R0136
G1
225
Y
18
35660462
K99R
T
C
missense
Het
probably damaging
0.999
0.092
04/12/2013
57
21963
Taar5
0.092
R0136
G1
211
Y
10
23971709
Y335C
A
G
missense
Het
probably damaging
1.000
0.130
phenotype
04/12/2013
58
21925
Tpr
1.000
R0136
G1
209
Y
1
150430595
H1540R
A
G
missense
Het
probably benign
0.012
0.081
phenotype
04/12/2013
59
21947
Vmn1r27
0.206
R0136
G1
225
Y
6
58215719
F100S
A
G
missense
Het
possibly damaging
0.564
0.179
04/12/2013
60
60924
Vmn2r37
0.085
R0136
G1
100
N
7
9217783
Y360*
A
T
nonsense
Het
probably null
07/24/2013
61
21935
Ybx1
1.000
R0136
G1
205
Y
4
119282354
R36L
C
A
missense
Het
possibly damaging
0.575
0.144
phenotype
04/12/2013
62
21977
Zfp369
0.103
R0136
G1
225
Y
13
65297202
K720E
A
G
missense
Het
probably benign
0.076
0.127
04/12/2013
63
21958
Zfp599
0.073
R0136
G1
225
Y
9
22249742
S376P
A
G
missense
Het
probably benign
0.131
0.090
04/12/2013
64
21980
Zic2
0.926
R0136
G1
225
N
14
122476541
E289G
A
G
missense
Het
probably damaging
0.963
phenotype
04/12/2013
65
21967
Zzef1
0.000
R0136
G1
225
Y
11
72821851
V199A
T
C
missense
Het
probably benign
0.000
0.076
04/12/2013
[records 1 to 65 of 65]