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Incidental Mutations
69
incidental mutations are currently displayed, and affect
68
genes.
7
are Possibly Damaging.
25
are Probably Damaging.
31
are Probably Benign.
4
are Probably Null.
2
create premature stop codons.
3
are critical splice junction mutations.
Mutations in Coding Regions/Splice Sites Identified by Next-Gen Sequencing
[records 1 to 69 of 69]
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
21012
4930503L19Rik
0.073
R0119
G1
225
N
18
70469482
Q87*
G
A
nonsense
Het
probably null
0.965
04/11/2013
2
20990
Abca13
0.000
R0119
G1
225
Y
11
9298076
E2608K
G
A
missense
Het
probably benign
0.028
0.062
phenotype
04/11/2013
3
20958
Acad9
0.914
R0119
G1
225
Y
3
36085415
V388A
T
C
missense
Het
probably damaging
0.991
0.592
phenotype
04/11/2013
4
20986
Acpp
0.073
R0119
G1
173
Y
9
104320002
E146G
T
C
missense
Het
probably damaging
0.999
0.450
phenotype
04/11/2013
5
20981
Adamts18
0.122
R0119
G1
225
Y
8
113774953
I346T
A
G
missense
Het
possibly damaging
0.944
0.403
phenotype
04/11/2013
6
21005
Adcy8
0.104
R0119
G1
225
Y
15
64716166
D894V
T
A
missense
Het
probably damaging
1.000
0.907
phenotype
04/11/2013
7
20988
Ap3d1
0.931
R0119
G1
214
Y
10
80723615
A
G
splice site
Het
probably benign
phenotype
04/11/2013
8
20996
Arg2
0.000
R0119
G1
225
Y
12
79147612
D70G
A
G
missense
Het
probably damaging
0.999
0.259
phenotype
04/11/2013
9
20965
Cap1
0.729
R0119
G1
225
Y
4
122867699
L130Q
A
T
missense
Het
probably damaging
1.000
0.951
phenotype
04/11/2013
10
20998
Carmil1
0.000
R0119
G1
225
Y
13
24082020
N253I
T
A
missense
Het
probably damaging
0.975
0.076
phenotype
04/11/2013
11
20995
Caskin2
0.368
R0119
G1
225
Y
11
115802427
A
G
unclassified
Het
probably benign
phenotype
04/11/2013
12
20973
Cd69
0.089
R0119
G1
225
Y
6
129270062
S64N
C
T
missense
Het
probably benign
0.006
0.110
phenotype
04/11/2013
13
21007
Cd96
0.000
R0119
G1
203
Y
16
46038579
T
C
splice site
Het
probably benign
0.090
phenotype
04/11/2013
14
20984
Celf6
0.000
R0119
G1
225
Y
9
59602878
T86K
C
A
missense
Het
probably benign
0.002
0.090
phenotype
04/11/2013
15
20978
Ces1c
0.073
R0119
G1
225
Y
8
93106717
A
T
unclassified
Het
probably benign
phenotype
04/11/2013
16
20979
Ces1c
0.073
R0119
G1
225
Y
8
93107610
L351M
A
T
missense
Het
probably benign
0.001
0.090
phenotype
04/11/2013
17
20957
Cnih3
0.000
R0119
G1
225
Y
1
181454744
T
A
splice site
Het
probably benign
0.090
phenotype
04/11/2013
18
20961
Col15a1
0.107
R0119
G1
223
Y
4
47262950
D534V
A
T
missense
Het
probably damaging
0.980
0.133
phenotype
04/11/2013
19
20989
Cry1
0.000
R0119
G1
225
Y
10
85133240
A
G
critical splice donor site
2 bp
Het
probably null
phenotype
04/11/2013
20
21003
Csmd3
0.000
R0119
G1
221
Y
15
47847131
T1687A
T
C
missense
Het
probably benign
0.078
0.072
04/11/2013
21
60567
Def8
0.163
R0119
G1
209
Y
8
123456495
A278T
G
A
missense
Het
probably damaging
0.981
0.851
07/24/2013
22
20977
Defb13
0.057
R0119
G1
225
Y
8
21946861
T
C
splice site
Het
probably benign
0.090
04/11/2013
23
21002
Dnah1
0.000
R0119
G1
128
Y
14
31276158
G2574D
C
T
missense
Het
probably damaging
1.000
0.700
phenotype
04/11/2013
24
21008
Dnah8
0.308
R0119
G1
225
Y
17
30715509
F1489L
T
A
missense
Het
possibly damaging
0.844
0.138
phenotype
04/11/2013
25
20980
Elmo3
0.000
R0119
G1
225
Y
8
105309768
L668S
T
C
missense
Het
probably damaging
1.000
0.647
phenotype
04/11/2013
26
21010
Elp2
0.957
R0119
G1
225
Y
18
24634409
I716T
T
C
missense
Het
probably benign
0.028
0.090
phenotype
04/11/2013
27
21009
Fshr
0.000
R0119
G1
225
Y
17
89009285
S169T
C
G
missense
Het
probably benign
0.338
0.249
phenotype
04/11/2013
28
21006
Gm6327
0.082
R0119
G1
225
Y
16
12761197
T
C
intron
Het
noncoding transcript
04/11/2013
29
20972
Gm839
0.113
R0119
G1
225
Y
6
89212380
A
T
exon
Het
noncoding transcript
0.087
04/11/2013
30
20960
Gng5
0.687
R0119
G1
177
Y
3
146503293
C39S
T
A
missense
Het
probably damaging
0.993
0.857
phenotype
04/11/2013
31
20954
Gpr55
0.000
R0119
G1
225
Y
1
85941424
W145*
C
T
nonsense
Het
probably null
0.976
phenotype
04/11/2013
32
20955
Hdlbp
0.933
R0119
G1
225
Y
1
93421337
A
C
splice site
Het
probably benign
0.090
phenotype
04/11/2013
33
20975
Man2a2
0.262
R0119
G1
225
Y
7
80367405
N305K
G
T
missense
Het
probably damaging
1.000
0.312
phenotype
04/11/2013
34
21013
Me2
0.000
R0119
G1
206
Y
18
73770673
S575P
A
G
missense
Het
probably benign
0.000
0.076
phenotype
04/11/2013
35
20999
Mier3
0.838
R0119
G1
225
Y
13
111715038
V490A
T
C
missense
Het
probably damaging
0.999
0.165
04/11/2013
36
20963
Mpdz
0.000
R0119
G1
225
Y
4
81292531
T1693A
T
C
missense
Het
probably benign
0.440
0.144
phenotype
04/11/2013
37
21000
Mss51
0.324
R0119
G1
225
Y
14
20484688
Q338L
T
A
missense
Het
possibly damaging
0.524
0.061
04/11/2013
38
65745
Muc4
0.110
R0119
G1
222
Y
16
32750195
A
T
critical splice acceptor site
Het
probably benign
0.090
phenotype
08/19/2013
39
166116
Mug2
0.066
R0119
G1
225
Y
6
122036063
H311Q
T
A
missense
Het
probably benign
0.003
0.090
04/02/2014
40
21014
Neto1
0.079
R0119
G1
225
Y
18
86461320
R211Q
G
A
missense
Het
probably benign
0.168
0.081
phenotype
04/11/2013
41
60566
Nfat5
0.950
R0119
G1
225
Y
8
107339075
R156W
C
T
missense
Het
probably damaging
0.999
0.139
phenotype
07/24/2013
42
21001
Nisch
0.000
R0119
G1
225
Y
14
31171924
Y1231H
A
G
missense
Het
probably damaging
0.999
0.647
phenotype
04/11/2013
43
261778
Obox3
0.193
R0119
G1
67
Y
7
15626327
T
A
critical splice acceptor site
Het
probably null
0.976
02/04/2015
44
20993
Olfr394
0.153
R0119
G1
225
Y
11
73887830
V181I
C
T
missense
Het
probably benign
0.113
0.090
phenotype
04/11/2013
45
60565
Optn
0.209
R0119
G1
225
Y
2
5024115
G526R
C
T
missense
Het
probably damaging
1.000
0.085
phenotype
07/24/2013
46
20987
Pcdh15
0.000
R0119
G1
225
Y
10
74170575
F95S
T
C
missense
Het
probably damaging
0.999
0.243
phenotype
04/11/2013
47
20974
Pcsk6
0.265
R0119
G1
225
Y
7
66039043
V820A
T
C
missense
Het
probably benign
0.105
0.090
phenotype
04/11/2013
48
20959
Pde5a
0.528
R0119
G1
225
Y
3
122748458
N199S
A
G
missense
Het
probably damaging
0.998
0.488
phenotype
04/11/2013
49
21011
Pdgfrb
1.000
R0119
G1
225
Y
18
61068852
V496E
T
A
missense
Het
probably benign
0.064
0.114
phenotype
04/11/2013
50
20968
Per3
0.140
R0119
G1
225
Y
4
151024548
A
G
intron
Het
probably benign
0.090
phenotype
04/11/2013
51
20994
Pip4k2b
0.267
R0119
G1
225
Y
11
97722936
A
T
splice site
Het
probably benign
phenotype
04/11/2013
52
20964
Podn
0.000
R0119
G1
225
Y
4
108021594
L359I
G
T
missense
Het
probably damaging
0.999
0.592
phenotype
04/11/2013
53
21004
Rad21
1.000
R0119
G1
225
Y
15
51965030
D547E
A
T
missense
Het
probably benign
0.007
0.058
phenotype
04/11/2013
54
20967
Rere
1.000
R0119
G1
225
Y
4
150615322
T
G
unclassified
Het
probably benign
0.090
phenotype
04/11/2013
55
166117
Serpina1d
0.096
R0119
G1
225
Y
12
103765757
L281Q
A
T
missense
Het
probably damaging
1.000
0.913
04/02/2014
56
20997
Serpina9
0.051
R0119
G1
225
Y
12
104001470
N222S
T
C
missense
Het
probably benign
0.176
0.090
04/11/2013
57
20985
Sh3bgrl2
0.109
R0119
G1
225
Y
9
83577559
K57E
A
G
missense
Het
probably damaging
0.986
0.089
04/11/2013
58
20966
Sh3bgrl3
0.552
R0119
G1
225
Y
4
134128036
I33N
A
T
missense
Het
probably damaging
0.998
0.910
04/11/2013
59
20983
Sik3
1.000
R0119
G1
225
Y
9
46208740
M659T
T
C
missense
Het
possibly damaging
0.811
0.061
phenotype
04/11/2013
60
20969
Sppl3
0.765
R0119
G1
225
Y
5
115088994
T
A
unclassified
Het
probably benign
0.090
phenotype
04/11/2013
61
20976
Tacc2
0.000
R0119
G1
225
Y
7
130621875
Q116K
C
A
missense
Het
probably damaging
0.976
0.647
phenotype
04/11/2013
62
20982
Tecta
0.117
R0119
G1
66
Y
9
42352063
D1409G
T
C
missense
Het
probably damaging
1.000
0.831
phenotype
04/11/2013
63
20970
Tnpo3
1.000
R0119
G1
225
Y
6
29568922
V477A
A
G
missense
Het
possibly damaging
0.910
0.661
phenotype
04/11/2013
64
20991
Trim7
0.076
R0119
G1
225
Y
11
48849712
R212L
G
T
missense
Het
probably damaging
1.000
0.820
phenotype
04/11/2013
65
21015
Trpm6
1.000
R0119
G1
185
Y
19
18832593
C1118S
T
A
missense
Het
probably benign
0.047
0.090
phenotype
04/11/2013
66
20962
Ugcg
1.000
R0119
G1
225
Y
4
59217036
V187L
G
C
missense
Het
possibly damaging
0.853
0.142
phenotype
04/11/2013
67
20971
Vmn1r27
0.096
R0119
G1
225
Y
6
58215719
F100S
A
G
missense
Het
possibly damaging
0.564
0.179
04/11/2013
68
20956
Zbtb18
1.000
R0119
G1
225
Y
1
177448157
E361G
A
G
missense
Het
probably benign
0.051
0.070
phenotype
04/11/2013
69
20992
Zzef1
0.000
R0119
G1
225
Y
11
72821851
V199A
T
C
missense
Het
probably benign
0.000
0.076
04/11/2013
[records 1 to 69 of 69]