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Incidental Mutations
50
incidental mutations are currently displayed, and affect
50
genes.
10
are Possibly Damaging.
20
are Probably Damaging.
10
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 50 of 50]
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
514016
Abca5
0.188
R6343
G1
225.01
Y
11
110314552
L301Q
A
T
missense
Het
probably damaging
0.997
phenotype
04/27/2018
2
513986
Adgrl4
0.000
R6343
G1
225.01
Y
3
151517806
L632P
T
C
missense
Het
probably damaging
1.000
0.364
phenotype
04/27/2018
3
513993
Cacna2d1
0.380
R6343
G1
225.01
Y
5
16322564
I539N
T
A
missense
Het
probably benign
0.094
phenotype
04/27/2018
4
513992
Camta1
0.557
R6343
G1
225.01
Y
4
151079849
H314L
T
A
missense
Het
probably damaging
0.977
0.247
phenotype
04/27/2018
5
513985
Car2
0.462
R6343
G1
225.01
Y
3
14887965
S56P
T
C
missense
Het
probably damaging
0.996
phenotype
04/27/2018
6
513984
Chrm5
0.086
R6343
G1
225.01
Y
2
112479448
A441V
G
A
missense
Het
probably damaging
0.996
0.364
phenotype
04/27/2018
7
513983
Ckap5
1.000
R6343
G1
225.01
Y
2
91596474
N1380K
T
A
missense
Het
possibly damaging
0.949
0.162
phenotype
04/27/2018
8
514011
Cspg4
0.000
R6343
G1
225.01
Y
9
56892692
V1580A
T
C
missense
Het
probably benign
0.000
phenotype
04/27/2018
9
514024
Dcc
1.000
R6343
G1
225.01
Y
18
71336035
L1099P
A
G
missense
Het
probably damaging
0.996
phenotype
04/27/2018
10
514028
Dnase1l1
0.108
R6343
G1
222
Y
X
74277038
C
T
critical splice donor site
1 bp
Homo
probably null
0.971
phenotype
04/27/2018
11
513995
Epha5
0.000
R6343
G1
225.01
Y
5
84106747
H644Q
A
T
missense
Het
probably damaging
1.000
phenotype
04/27/2018
12
513989
Eya3
0.810
R6343
G1
225.01
Y
4
132672910
I80T
T
C
missense
Het
probably damaging
0.962
0.074
phenotype
04/27/2018
13
514021
Fdft1
1.000
R6343
G1
225.01
Y
14
63151272
Y304N
A
T
missense
Het
probably damaging
1.000
phenotype
04/27/2018
14
514000
Fiz1
0.114
R6343
G1
136.01
Y
7
5008401
A373T
C
T
missense
Het
possibly damaging
0.939
0.127
phenotype
04/27/2018
15
514018
Gpatch2l
0.000
R6343
G1
225.01
Y
12
86260605
Y252*
T
A
nonsense
Het
probably null
0.976
04/27/2018
16
514020
Hivep1
0.713
R6343
G1
225.01
Y
13
42159671
G1796*
G
T
nonsense
Het
probably null
phenotype
04/27/2018
17
514008
Irf8
0.000
R6343
G1
223.01
Y
8
120753707
V228A
T
C
missense
Het
probably damaging
0.968
0.305
phenotype
04/27/2018
18
514012
Islr
0.141
R6343
G1
225.01
Y
9
58157096
V376G
A
C
missense
Het
probably damaging
0.999
phenotype
04/27/2018
19
513999
Kdm5a
1.000
R6343
G1
165.01
Y
6
120382933
V230A
T
C
missense
Het
probably benign
0.010
phenotype
04/27/2018
20
513982
Lpgat1
0.360
R6343
G1
122.01
Y
1
191776572
A
G
intron
143 bp
Het
probably null
0.976
phenotype
04/27/2018
21
513987
Lrp8
0.611
R6343
G1
198.01
Y
4
107869156
T
C
splice site
6 bp
Het
probably null
phenotype
04/27/2018
22
514013
Lyzl4
0.056
R6343
G1
131.01
Y
9
121578084
S127A
A
C
missense
Het
possibly damaging
0.710
0.275
phenotype
04/27/2018
23
514002
Map4k1
0.000
R6343
G1
225.01
Y
7
29000290
V606A
T
C
missense
Het
possibly damaging
0.763
0.314
phenotype
04/27/2018
24
514007
Mau2
1.000
R6343
G1
218.01
Y
8
70031523
K138N
T
A
missense
Het
probably damaging
0.986
phenotype
04/27/2018
25
514015
Meikin
0.136
R6343
G1
225.01
Y
11
54370766
L33P
T
C
missense
Het
probably damaging
0.974
phenotype
04/27/2018
26
514023
Mrpl28
0.866
R6343
G1
188.01
Y
17
26126278
V224A
T
C
missense
Het
probably benign
0.055
0.108
phenotype
04/27/2018
27
513988
Ncdn
1.000
R6343
G1
225.01
Y
4
126747171
D512G
T
C
missense
Het
possibly damaging
0.737
0.076
phenotype
04/27/2018
28
514001
Nlrp2
0.000
R6343
G1
225.01
Y
7
5300926
Q200L
T
A
missense
Het
possibly damaging
0.820
phenotype
04/27/2018
29
514005
Nup98
1.000
R6343
G1
225.01
Y
7
102194750
N89S
T
C
missense
Het
possibly damaging
0.897
phenotype
04/27/2018
30
513980
Ogfrl1
0.094
R6343
G1
225.01
Y
1
23369863
K427N
T
G
missense
Het
probably benign
0.044
0.090
04/27/2018
31
514025
Olfr1448
0.112
R6343
G1
225.01
Y
19
12919582
H242Q
G
T
missense
Het
probably damaging
1.000
phenotype
04/27/2018
32
514003
Olfr304
0.084
R6343
G1
225.01
Y
7
86385851
R270*
T
A
nonsense
Het
probably null
phenotype
04/27/2018
33
514006
Olfr551
0.094
R6343
G1
225.01
Y
7
102588546
C66R
A
G
missense
Het
probably damaging
0.981
phenotype
04/27/2018
34
514014
Olfr770
0.061
R6343
G1
225.01
Y
10
129133666
L34*
A
T
nonsense
Het
probably null
phenotype
04/27/2018
35
513991
Padi3
0.000
R6343
G1
225.01
Y
4
140803508
V68I
C
T
missense
Het
possibly damaging
0.580
0.179
phenotype
04/27/2018
36
513981
Pign
0.712
R6343
G1
225.01
Y
1
105585095
M621K
A
T
missense
Het
probably benign
0.329
0.263
phenotype
04/27/2018
37
513990
Pigv
0.826
R6343
G1
225.01
Y
4
133665236
V208M
C
T
missense
Het
probably damaging
1.000
0.647
phenotype
04/27/2018
38
514022
Ripk4
0.484
R6343
G1
200.01
Y
16
97763526
A
G
critical splice donor site
2 bp
Het
probably null
phenotype
04/27/2018
39
514004
Rsf1
1.000
R6343
G1
225.01
Y
7
97660917
K285E
A
G
missense
Het
probably benign
0.300
phenotype
04/27/2018
40
514019
Serpina3k
0.063
R6343
G1
225.01
Y
12
104345303
G380A
G
C
missense
Het
probably benign
0.000
0.090
04/27/2018
41
514027
Sorbs1
0.781
R6343
G1
225.01
Y
19
40376982
A
G
critical splice donor site
2 bp
Het
probably null
phenotype
04/27/2018
42
513997
Srrd
0.788
R6343
G1
225.01
Y
5
112340000
A104G
G
C
missense
Het
probably benign
0.047
0.090
04/27/2018
43
535629
Tbp
1.000
R6343
G1
222.01
Y
17
15501089
T
A
unclassified
Het
probably null
0.976
phenotype
09/13/2018
44
513994
Tecrl
0.272
R6343
G1
225.01
Y
5
83294600
H209Y
G
A
missense
Het
probably damaging
0.958
04/27/2018
45
513996
Tmprss11c
0.000
R6343
G1
225.01
Y
5
86256345
L157P
A
G
missense
Het
probably damaging
1.000
04/27/2018
46
514010
Tmprss13
0.000
R6343
G1
225.01
Y
9
45343200
T422S
A
T
missense
Het
possibly damaging
0.658
phenotype
04/27/2018
47
514017
Ttll5
0.515
R6343
G1
225.01
Y
12
85956699
H1103R
A
G
missense
Het
probably benign
0.001
0.060
phenotype
04/27/2018
48
514009
Urb2
0.951
R6343
G1
225.01
Y
8
124031125
E1190D
G
T
missense
Het
probably damaging
0.990
0.647
04/27/2018
49
514026
Vldlr
0.361
R6343
G1
225.01
Y
19
27245649
Y699C
A
G
missense
Het
probably damaging
0.989
phenotype
04/27/2018
50
513998
Vmn1r22
0.118
R6343
G1
225.01
Y
6
57900578
N138T
T
G
missense
Het
possibly damaging
0.651
0.179
04/27/2018
[records 1 to 50 of 50]