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Incidental Mutations
59
incidental mutations are currently displayed, and affect
58
genes.
7
are Possibly Damaging.
20
are Probably Damaging.
25
are Probably Benign.
5
are Probably Null.
2
create premature stop codons.
1
are critical splice junction mutations.
Mutations in Coding Regions/Splice Sites Identified by Next-Gen Sequencing
[records 1 to 59 of 59]
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
394621
Ahnak
0.280
R5050
G1
145
Y
19
9012458
A
G
intron
Het
probably benign
0.125
phenotype
06/15/2016
2
394610
Ap3m1
0.136
R5050
G1
225
Y
14
21044775
I108T
A
G
missense
Het
probably benign
0.002
0.062
phenotype
06/15/2016
3
394590
Apobec1
0.000
R5050
G1
225
Y
6
122591102
M1V
T
C
start codon destroyed
Het
probably null
0.182
0.955
phenotype
06/15/2016
4
394579
Aqr
1.000
R5050
G1
225
Y
2
114112609
L1161*
A
T
nonsense
Het
probably null
0.976
phenotype
06/15/2016
5
394580
Aqr
1.000
R5050
G1
225
Y
2
114170025
A
T
critical splice donor site
2 bp
Het
probably null
0.949
phenotype
06/15/2016
6
394618
Arhgef37
0.153
R5050
G1
191
Y
18
61504331
I420T
A
G
missense
Het
probably benign
0.430
0.405
06/15/2016
7
394601
Cacna1g
0.660
R5050
G1
161
Y
11
94459715
E435K
C
T
missense
Het
probably damaging
1.000
0.414
phenotype
06/15/2016
8
394611
Card6
0.000
R5050
G1
215
Y
15
5100376
H513N
G
T
missense
Het
probably benign
0.003
0.090
phenotype
06/15/2016
9
394587
Ccdc158
0.165
R5050
G1
225
Y
5
92666879
F29L
A
C
missense
Het
probably benign
0.015
0.066
06/15/2016
10
394617
Ccr6
0.000
R5050
G1
225
Y
17
8256104
L47S
T
C
missense
Het
probably damaging
0.998
0.250
phenotype
06/15/2016
11
394574
Cdc42bpa
0.591
R5050
G1
225
Y
1
180072453
Y444*
T
A
nonsense
Het
probably null
0.976
phenotype
06/15/2016
12
394585
Cdh17
0.108
R5050
G1
225
Y
4
11784654
Y270C
A
G
missense
Het
probably damaging
1.000
0.947
phenotype
06/15/2016
13
394612
Cdh9
0.167
R5050
G1
225
Y
15
16778147
F16S
T
C
missense
Het
probably benign
0.116
0.216
phenotype
06/15/2016
14
394603
Cdkl1
0.190
R5050
G1
225
Y
12
69757240
K141R
T
C
missense
Het
probably damaging
1.000
0.164
phenotype
06/15/2016
15
394591
Chd4
1.000
R5050
G1
225
Y
6
125107480
Y692H
T
C
missense
Het
probably damaging
0.998
0.200
phenotype
06/15/2016
16
394604
Dhrs7
0.082
R5050
G1
225
Y
12
72657410
D104V
T
A
missense
Het
probably damaging
0.999
0.355
phenotype
06/15/2016
17
394575
Dhtkd1
0.000
R5050
G1
225
Y
2
5917689
L553Q
A
T
missense
Het
probably benign
0.003
0.060
phenotype
06/15/2016
18
394571
Dnah7a
0.135
R5050
G1
225
Y
1
53497096
D2596A
T
G
missense
Het
probably benign
0.006
0.094
06/15/2016
19
394598
Dync1li2
0.257
R5050
G1
225
Y
8
104437441
K151E
T
C
missense
Het
probably damaging
0.999
0.509
phenotype
06/15/2016
20
394624
Eno4
0.079
R5050
G1
225
Y
19
58955496
H297Y
C
T
missense
Het
probably benign
0.001
0.090
phenotype
06/15/2016
21
394619
Epg5
0.942
R5050
G1
225
Y
18
77975941
D976E
T
A
missense
Het
possibly damaging
0.545
0.122
phenotype
06/15/2016
22
394623
Fam160b1
0.178
R5050
G1
108
Y
19
57383170
F571L
T
A
missense
Het
probably damaging
1.000
0.409
06/15/2016
23
394596
Gm1966
0.108
R5050
G1
225
Y
7
106596972
T
C
exon
Het
noncoding transcript
06/15/2016
24
394597
Gm4553
R5050
G1
225
N
7
142165036
K218N
C
A
missense
Het
unknown
06/15/2016
25
394573
Gm4788
0.070
R5050
G1
225
Y
1
139736840
I494F
T
A
missense
Het
probably damaging
0.994
0.647
06/15/2016
26
394608
Gpld1
0.000
R5050
G1
225
Y
13
24962756
T234S
A
T
missense
Het
probably benign
0.001
0.060
phenotype
06/15/2016
27
394588
Gtpbp6
0.000
R5050
G1
111
Y
5
110104701
A
T
unclassified
Het
probably benign
phenotype
06/15/2016
28
394622
Gucy2g
0.000
R5050
G1
225
Y
19
55240935
E101G
T
C
missense
Het
probably benign
0.047
0.090
phenotype
06/15/2016
29
394615
Hira
1.000
R5050
G1
225
Y
16
18925859
R442K
G
A
missense
Het
possibly damaging
0.752
0.065
phenotype
06/15/2016
30
394582
Hrh3
0.281
R5050
G1
158
Y
2
180100557
L394P
A
G
missense
Het
probably damaging
1.000
0.864
phenotype
06/15/2016
31
394589
Igkv1-110
0.251
R5050
G1
225
Y
6
68271192
F95Y
T
A
missense
Het
probably damaging
0.997
0.647
06/15/2016
32
394583
Iqgap3
0.281
R5050
G1
225
Y
3
88090186
V223G
T
G
missense
Het
probably damaging
0.997
0.231
06/15/2016
33
394606
Itpk1
0.916
R5050
G1
187
Y
12
102704810
T3A
T
C
missense
Het
probably damaging
0.999
0.075
phenotype
06/15/2016
34
458147
Jag1
1.000
R5050
G1
225
Y
2
137085154
V895A
A
G
missense
Het
possibly damaging
0.712
0.722
phenotype
02/17/2017
35
458148
Kazn
0.246
R5050
G1
48
Y
4
142118203
G
A
unclassified
Het
probably benign
0.208
phenotype
02/17/2017
36
394578
Large2
0.000
R5050
G1
225
Y
2
92367779
L282Q
A
T
missense
Het
probably benign
0.053
0.132
phenotype
06/15/2016
37
394605
Lgmn
0.000
R5050
G1
225
Y
12
102403421
A
G
splice site
6 bp
Het
probably null
0.976
phenotype
06/15/2016
38
394577
Lrp4
0.612
R5050
G1
218
Y
2
91492422
I1119F
A
T
missense
Het
probably benign
0.225
0.163
phenotype
06/15/2016
39
394572
Map3k19
0.091
R5050
G1
225
Y
1
127823562
H684R
T
C
missense
Het
probably benign
0.213
0.194
06/15/2016
40
394609
Mier3
0.757
R5050
G1
209
Y
13
111714573
A367V
C
T
missense
Het
possibly damaging
0.944
0.319
06/15/2016
41
394586
Mpdz
0.000
R5050
G1
225
Y
4
81295448
V1579A
A
G
missense
Het
probably benign
0.003
0.064
phenotype
06/15/2016
42
458151
Mroh2b
0.105
R5050
G1
225
Y
15
4900450
D6V
A
T
missense
Het
possibly damaging
0.823
0.179
02/17/2017
43
394581
Myh7b
0.000
R5050
G1
225
Y
2
155631750
I1568V
A
G
missense
Het
probably benign
0.001
0.068
phenotype
06/15/2016
44
394595
Olfr675
0.287
R5050
G1
225
Y
7
105024387
I198F
T
A
missense
Het
probably damaging
1.000
0.421
phenotype
06/15/2016
45
458149
Plch2
0.000
R5050
G1
23
Y
4
155043309
C
T
intron
Het
probably benign
phenotype
02/17/2017
46
394600
Plek
0.173
R5050
G1
225
Y
11
16995216
D38G
T
C
missense
Het
probably damaging
0.979
0.637
phenotype
06/15/2016
47
394614
Polr2f
1.000
R5050
G1
210
Y
15
79144662
A
G
unclassified
Het
probably benign
0.086
phenotype
06/15/2016
48
394616
Samsn1
0.000
R5050
G1
225
Y
16
75888757
S38P
A
G
missense
Het
probably benign
0.000
0.090
phenotype
06/15/2016
49
394620
Sf1
1.000
R5050
G1
225
Y
19
6372559
T248I
C
T
missense
Het
probably damaging
0.999
0.583
phenotype
06/15/2016
50
394584
Sgms2
0.163
R5050
G1
225
Y
3
131330356
V232M
C
T
missense
Het
probably benign
0.000
0.090
phenotype
06/15/2016
51
394613
Sharpin
0.300
R5050
G1
197
Y
15
76348330
L160H
A
T
missense
Het
probably damaging
0.997
0.085
phenotype
06/15/2016
52
394593
Sympk
0.964
R5050
G1
225
Y
7
19036042
R215C
C
T
missense
Het
probably benign
0.192
0.191
phenotype
06/15/2016
53
394599
Syn3
0.000
R5050
G1
225
Y
10
86407668
T136A
T
C
missense
Het
probably benign
0.047
0.144
phenotype
06/15/2016
54
394602
Tcam1
0.000
R5050
G1
225
Y
11
106285452
V335M
G
A
missense
Het
possibly damaging
0.928
0.179
phenotype
06/15/2016
55
394607
Tedc1
1.000
R5050
G1
225
Y
12
113156705
V56L
G
T
missense
Het
possibly damaging
0.863
0.145
06/15/2016
56
394594
Tenm4
1.000
R5050
G1
225
Y
7
96895788
L2337P
T
C
missense
Het
probably damaging
1.000
0.894
phenotype
06/15/2016
57
394576
Ttn
1.000
R5050
G1
225
Y
2
76884811
G
A
intron
Het
probably benign
0.095
phenotype
06/15/2016
58
458150
Tysnd1
0.097
R5050
G1
71
Y
10
61696271
I234N
T
A
missense
Het
probably damaging
0.998
0.358
phenotype
02/17/2017
59
394592
Vmn2r51
0.089
R5050
G1
225
Y
7
10100422
K230E
T
C
missense
Het
probably damaging
0.994
0.647
06/15/2016
[records 1 to 59 of 59]