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Incidental Mutations
49
incidental mutations are currently displayed, and affect
49
genes.
7
are Possibly Damaging.
24
are Probably Damaging.
16
are Probably Benign.
2
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 49 of 49]
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
272132
1700012B07Rik
0.058
R3783
G1
225
Y
11
109794154
C172*
G
T
nonsense
Het
probably null
0.976
03/25/2015
2
272133
Akap6
0.756
R3783
G1
225
Y
12
52880769
H154R
A
G
missense
Het
probably damaging
1.000
0.323
phenotype
03/25/2015
3
272117
Aoc1
0.000
R3783
G1
225
Y
6
48905655
L177P
T
C
missense
Het
probably damaging
0.999
0.741
phenotype
03/25/2015
4
272124
Ascc3
0.960
R3783
G1
225
Y
10
50728254
T1357A
A
G
missense
Het
probably damaging
1.000
0.962
phenotype
03/25/2015
5
272145
Atp13a3
0.500
R3783
G1
225
Y
16
30354249
V270D
A
T
missense
Het
probably damaging
1.000
0.702
phenotype
03/25/2015
6
473562
BC055324
1.000
R3783
G1
225
N
1
163987683
C90S
A
T
missense
Het
probably benign
0.270
04/14/2017
7
272141
Carmil3
0.473
R3783
G1
225
Y
14
55496976
F418S
T
C
missense
Het
probably damaging
0.996
0.864
03/25/2015
8
272104
Ccdc93
0.159
R3783
G1
225
Y
1
121437869
N77S
A
G
missense
Het
probably damaging
0.999
0.565
03/25/2015
9
272144
Cpt1b
1.000
R3783
G1
225
Y
15
89425189
K47R
T
C
missense
Het
probably damaging
0.998
0.302
phenotype
03/25/2015
10
272147
Cyp4f14
0.000
R3783
G1
225
Y
17
32916762
Y42H
A
G
missense
Het
probably benign
0.003
0.337
phenotype
03/25/2015
11
272149
Dmxl1
0.936
R3783
G1
225
Y
18
49865122
S763N
G
A
missense
Het
probably damaging
1.000
0.200
phenotype
03/25/2015
12
272106
Fam129a
0.000
R3783
G1
225
N
1
151689648
S243L
C
T
missense
Het
possibly damaging
0.663
phenotype
03/25/2015
13
272119
Fancd2
1.000
R3783
G1
225
Y
6
113565204
S770A
T
G
missense
Het
probably damaging
1.000
0.080
phenotype
03/25/2015
14
272140
Flnb
1.000
R3783
G1
225
Y
14
7889236
W529G
T
G
missense
Het
probably benign
0.044
0.891
phenotype
03/25/2015
15
272115
Fryl
0.835
R3783
G1
225
Y
5
73101476
Y655C
T
C
missense
Het
probably benign
0.000
0.090
phenotype
03/25/2015
16
272143
Gml
0.085
R3783
G1
225
Y
15
74813672
V155M
C
T
missense
Het
probably damaging
0.976
0.137
03/25/2015
17
272150
Gpr174
0.015
R3783
G1
222
Y
X
107293064
T161A
A
G
missense
Het
probably benign
0.076
0.070
phenotype
03/25/2015
18
272134
Heatr1
0.967
R3783
G1
225
Y
13
12434460
L1946F
G
T
missense
Het
probably damaging
1.000
0.647
03/25/2015
19
272130
Inpp5k
1.000
R3783
G1
202
Y
11
75647686
L461P
T
C
missense
Het
probably damaging
0.993
0.182
phenotype
03/25/2015
20
272118
Isy1
0.232
R3783
G1
195
Y
6
87821545
E209G
T
C
missense
Het
possibly damaging
0.696
0.093
phenotype
03/25/2015
21
272105
Kdm5b
0.413
R3783
G1
225
Y
1
134630542
H1429R
A
G
missense
Het
probably benign
0.000
0.090
phenotype
03/25/2015
22
272114
Magi2
1.000
R3783
G1
225
Y
5
20465909
T580M
C
T
missense
Het
probably damaging
0.973
0.076
phenotype
03/25/2015
23
272139
Map3k1
0.924
R3783
G1
225
Y
13
111756220
V834I
C
T
missense
Het
probably benign
0.001
0.090
phenotype
03/25/2015
24
272113
Mdn1
1.000
R3783
G1
225
Y
4
32720818
E2310D
A
T
missense
Het
probably benign
0.014
0.092
03/25/2015
25
272128
Myo15
0.000
R3783
G1
225
Y
11
60477572
Y386F
A
T
missense
Het
probably damaging
0.966
0.148
phenotype
03/25/2015
26
272108
Neurod1
0.913
R3783
G1
225
Y
2
79454595
N148I
T
A
missense
Het
probably damaging
1.000
0.904
phenotype
03/25/2015
27
272138
Nsa2
1.000
R3783
G1
225
Y
13
97135534
Q60K
G
T
missense
Het
possibly damaging
0.933
0.092
phenotype
03/25/2015
28
473565
Pcdha1
0.000
R3783
G1
225
N
18
36930802
L173Q
T
A
missense
Het
probably damaging
1.000
phenotype
04/14/2017
29
272146
Pdpk1
1.000
R3783
G1
225
Y
17
24110850
T71A
T
C
missense
Het
possibly damaging
0.955
0.475
phenotype
03/25/2015
30
272107
Plxna2
0.000
R3783
G1
225
Y
1
194807521
V1692E
T
A
missense
Het
probably damaging
0.997
0.912
phenotype
03/25/2015
31
272111
Pmepa1
0.000
R3783
G1
225
Y
2
173228133
R210W
G
A
missense
Het
probably damaging
1.000
0.561
phenotype
03/25/2015
32
272120
Psg27
0.000
R3783
G1
225
Y
7
18560354
Q376L
T
A
missense
Het
probably damaging
0.997
0.647
03/25/2015
33
272112
Psmd4
1.000
R3783
G1
225
Y
3
95035251
D6G
T
C
missense
Het
possibly damaging
0.845
0.083
phenotype
03/25/2015
34
272136
Ptch1
1.000
R3783
G1
225
Y
13
63524959
E944A
T
G
missense
Het
probably benign
0.003
0.137
phenotype
03/25/2015
35
272135
Rala
1.000
R3783
G1
225
Y
13
17882446
E185V
T
A
missense
Het
probably benign
0.202
0.083
phenotype
03/25/2015
36
272110
Sall4
1.000
R3783
G1
217
Y
2
168756123
S266P
A
G
missense
Het
probably damaging
1.000
0.123
phenotype
03/25/2015
37
272123
Scn10a
0.192
R3783
G1
225
Y
9
119691562
T91A
T
C
missense
Het
probably damaging
0.998
0.118
phenotype
03/25/2015
38
272131
Synrg
1.000
R3783
G1
225
Y
11
84001920
F613S
T
C
missense
Het
probably damaging
0.994
0.226
phenotype
03/25/2015
39
272129
Tekt1
0.157
R3783
G1
225
Y
11
72344894
I376T
A
G
missense
Het
probably damaging
0.999
0.580
phenotype
03/25/2015
40
473564
Tet2
1.000
R3783
G1
225
N
3
133479363
K1182R
T
C
missense
Het
possibly damaging
0.528
phenotype
04/14/2017
41
272137
Thbs4
0.000
R3783
G1
225
Y
13
92773164
N375S
T
C
missense
Het
probably benign
0.094
0.065
phenotype
03/25/2015
42
272126
Thoc5
1.000
R3783
G1
225
Y
11
4920372
A
G
unclassified
Het
probably benign
phenotype
03/25/2015
43
272125
Tmprss9
0.091
R3783
G1
225
Y
10
80887467
V254F
G
T
missense
Het
probably damaging
0.999
0.647
phenotype
03/25/2015
44
272151
Tro
0.122
R3783
G1
222
Y
X
150655052
T203I
G
A
missense
Het
possibly damaging
0.826
0.127
phenotype
03/25/2015
45
272109
Ttbk2
1.000
R3783
G1
225
Y
2
120773815
A
T
splice site
Het
probably benign
0.090
phenotype
03/25/2015
46
272121
Usf2
0.793
R3783
G1
89
N
7
30955831
V133A
A
G
missense
Het
probably benign
0.000
phenotype
03/25/2015
47
272127
Wap
0.000
R3783
G1
225
Y
11
6638550
Q25*
G
A
nonsense
Het
probably null
0.976
phenotype
03/25/2015
48
272148
Xdh
0.430
R3783
G1
225
Y
17
73893595
C
T
splice site
Het
probably benign
phenotype
03/25/2015
49
272122
Xrn1
0.900
R3783
G1
225
Y
9
95969285
M153I
G
T
missense
Het
probably benign
0.101
0.080
phenotype
03/25/2015
[records 1 to 49 of 49]