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Incidental Mutations
54
incidental mutations are currently displayed, and affect
54
genes.
5
are Possibly Damaging.
19
are Probably Damaging.
19
are Probably Benign.
8
are Probably Null.
3
create premature stop codons.
5
are critical splice junction mutations.
Mutations in Coding Regions/Splice Sites Identified by Next-Gen Sequencing
[records 1 to 54 of 54]
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
ABI
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
288725
1700018B24Rik
IGL02332
3
48608888
A
G
exon
Het
noncoding transcript
04/16/2015
2
288742
Abca13
0.000
IGL02332
11
9291482
Y1115F
A
T
missense
Het
probably damaging
0.984
phenotype
04/16/2015
3
288722
Adam29
0.096
IGL02332
8
55871740
I560F
T
A
missense
Het
probably damaging
0.998
phenotype
04/16/2015
4
288759
Bivm
0.098
IGL02332
1
44128720
T
C
unclassified
Het
probably benign
04/16/2015
5
288728
Brinp1
0.132
IGL02332
4
68904884
R24L
C
A
missense
Het
probably benign
0.003
phenotype
04/16/2015
6
288710
Cnga1
0.314
IGL02332
5
72604486
Y562H
A
G
missense
Het
probably damaging
1.000
phenotype
04/16/2015
7
288723
Cr2
0.151
IGL02332
1
195160322
Q256H
C
A
missense
Het
probably benign
0.192
phenotype
04/16/2015
8
288737
Dhcr7
1.000
IGL02332
7
143843128
N119I
A
T
missense
Het
probably damaging
0.999
phenotype
04/16/2015
9
288716
Dio1
0.133
IGL02332
4
107293781
Y169N
A
T
missense
Het
probably damaging
0.999
phenotype
04/16/2015
10
288721
Dmbt1
0.342
IGL02332
7
131066613
C
T
intron
Het
probably benign
phenotype
04/16/2015
11
288739
Eogt
0.238
IGL02332
6
97125605
H249P
T
G
missense
Het
probably damaging
0.999
phenotype
04/16/2015
12
288755
Ermard
0.249
IGL02332
17
14990545
A
C
critical splice acceptor site
Het
probably null
phenotype
04/16/2015
13
288758
Exoc4
1.000
IGL02332
6
33249240
T
C
critical splice donor site
2 bp
Het
probably null
phenotype
04/16/2015
14
288754
Fxr2
0.762
IGL02332
11
69649838
G
T
critical splice donor site
1 bp
Het
probably null
phenotype
04/16/2015
15
288744
Glyr1
0.457
IGL02332
16
5018953
T443N
G
T
missense
Het
probably damaging
0.995
04/16/2015
16
288709
Gm14137
1.000
IGL02332
2
119175326
L122R
T
G
missense
Het
probably damaging
0.962
04/16/2015
17
288718
Gm4845
0.204
IGL02332
1
141256597
C
A
splice site
Het
noncoding transcript
04/16/2015
18
288752
Gm8258
0.246
IGL02332
5
104775902
A
G
exon
Het
noncoding transcript
04/16/2015
19
288727
Gmps
0.951
IGL02332
3
63990569
R258H
G
A
missense
Het
probably benign
0.006
phenotype
04/16/2015
20
288738
Itga6
1.000
IGL02332
2
71838373
L552R
T
G
missense
Het
possibly damaging
0.630
phenotype
04/16/2015
21
288757
Itgam
0.116
IGL02332
7
128085674
T
A
critical splice donor site
2 bp
Het
probably null
phenotype
04/16/2015
22
288746
Itgb5
0.000
IGL02332
16
33920130
E224*
G
T
nonsense
Het
probably null
phenotype
04/16/2015
23
288711
Itih4
0.000
IGL02332
14
30887860
A49D
C
A
missense
Het
probably damaging
1.000
phenotype
04/16/2015
24
288730
Itpr2
0.000
IGL02332
6
146426542
N64K
A
T
missense
Het
probably damaging
0.997
phenotype
04/16/2015
25
288719
Moap1
0.095
IGL02332
12
102742807
Y161C
T
C
missense
Het
probably benign
0.009
phenotype
04/16/2015
26
288734
Mst1r
0.212
IGL02332
9
107907826
G228*
G
T
nonsense
Het
probably null
phenotype
04/16/2015
27
288743
Myo1g
0.000
IGL02332
11
6520766
D30G
T
C
missense
Het
possibly damaging
0.611
phenotype
04/16/2015
28
288749
Ndn
0.759
IGL02332
7
62348825
C140S
T
A
missense
Het
probably damaging
0.976
phenotype
04/16/2015
29
288720
Nek5
0.059
IGL02332
8
22095261
Q367K
G
T
missense
Het
probably benign
0.137
phenotype
04/16/2015
30
288735
Nrd1
0.160
IGL02332
4
109000988
R52S
A
T
missense
Het
probably damaging
0.994
phenotype
04/16/2015
31
288745
Nup133
1.000
IGL02332
8
123907832
L1007Q
A
T
missense
Het
probably damaging
1.000
phenotype
04/16/2015
32
288729
Olfr1105
0.079
IGL02332
2
87034212
D3G
T
C
missense
Het
probably benign
0.325
phenotype
04/16/2015
33
288733
Olfr633
0.054
IGL02332
7
103946920
M118T
T
C
missense
Het
probably damaging
0.984
phenotype
04/16/2015
34
288750
Olfr74
0.143
IGL02332
2
87974065
L200Q
A
T
missense
Het
probably damaging
0.998
phenotype
04/16/2015
35
288713
P2rx2
0.000
IGL02332
5
110341805
S116G
T
C
missense
Het
probably benign
0.222
phenotype
04/16/2015
36
288747
Pcdhb13
0.080
IGL02332
18
37443582
V338M
G
A
missense
Het
probably benign
0.320
phenotype
04/16/2015
37
288717
Pdcl2
0.078
IGL02332
5
76319135
Y70*
A
T
nonsense
Het
probably null
phenotype
04/16/2015
38
288706
Ppm1e
0.361
IGL02332
11
87231742
H463R
T
C
missense
Het
probably benign
0.092
phenotype
04/16/2015
39
288741
Ppm1f
1.000
IGL02332
16
16914087
C134S
T
A
missense
Het
possibly damaging
0.722
phenotype
04/16/2015
40
288751
Ppp2r3a
0.000
IGL02332
9
101180403
F180L
A
G
missense
Het
possibly damaging
0.781
phenotype
04/16/2015
41
288732
Pxn
1.000
IGL02332
5
115544926
S96G
A
G
missense
Het
probably benign
0.002
phenotype
04/16/2015
42
288707
Rasa4
0.100
IGL02332
5
136095599
Q167H
G
T
missense
Het
probably benign
0.018
phenotype
04/16/2015
43
288714
Rfx8
0.000
IGL02332
1
39718480
I43V
T
C
missense
Het
possibly damaging
0.886
04/16/2015
44
288753
Sez6
0.000
IGL02332
11
77954742
C
T
splice site
Het
probably benign
phenotype
04/16/2015
45
288712
Slc39a6
0.233
IGL02332
18
24589823
D473E
A
T
missense
Het
probably benign
0.216
phenotype
04/16/2015
46
288748
Spocd1
0.166
IGL02332
4
129949092
D68G
A
G
missense
Het
probably damaging
0.995
phenotype
04/16/2015
47
288731
Syt13
0.075
IGL02332
2
92940804
F79L
T
C
missense
Het
probably benign
0.024
phenotype
04/16/2015
48
288736
Tas2r103
0.078
IGL02332
6
133036512
M197K
A
T
missense
Het
probably benign
0.211
04/16/2015
49
288740
Tbrg4
0.868
IGL02332
11
6618492
V429A
A
G
missense
Het
probably damaging
0.980
04/16/2015
50
288756
Tuft1
0.000
IGL02332
3
94615768
A
C
critical splice donor site
2 bp
Het
probably null
phenotype
04/16/2015
51
288715
Uqcrc1
0.965
IGL02332
9
108947869
T80A
A
G
missense
Het
probably damaging
0.998
04/16/2015
52
288724
Vps18
1.000
IGL02332
2
119293810
N406S
A
G
missense
Het
probably benign
0.039
phenotype
04/16/2015
53
288726
Xrn2
0.970
IGL02332
2
147026590
W188R
T
A
missense
Het
probably damaging
1.000
phenotype
04/16/2015
54
288708
Zzef1
0.000
IGL02332
11
72916509
S2738A
T
G
missense
Het
probably benign
0.009
04/16/2015
[records 1 to 54 of 54]