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Incidental Mutations
48
incidental mutations are currently displayed, and affect
48
genes.
11
are Possibly Damaging.
13
are Probably Damaging.
16
are Probably Benign.
7
are Probably Null.
5
create premature stop codons.
0
are critical splice junction mutations.
Mutations in Coding Regions/Splice Sites Identified by Next-Gen Sequencing
[records 1 to 48 of 48]
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
102644
3632451O06Rik
0.000
IGL01645
G1
14
49773554
E232G
T
C
missense
Het
probably damaging
0.999
01/21/2014
2
102620
Abcc8
0.505
IGL01645
G1
7
46115053
C1156Y
C
T
missense
Het
possibly damaging
0.928
phenotype
01/21/2014
3
102624
Armc4
0.272
IGL01645
G1
18
7268491
S343G
T
C
missense
Het
probably benign
0.001
phenotype
01/21/2014
4
102639
Atp8b1
0.000
IGL01645
G1
18
64546113
H766Y
G
A
missense
Het
probably benign
0.063
phenotype
01/21/2014
5
102607
BC030867
0.491
IGL01645
G1
11
102255186
L96P
T
C
missense
Het
probably damaging
1.000
01/21/2014
6
102650
Cacna2d1
0.386
IGL01645
G1
5
16012391
C
A
splice site
Het
probably null
phenotype
01/21/2014
7
102610
Card11
0.000
IGL01645
G1
5
140878023
T987S
T
A
missense
Het
probably benign
0.001
phenotype
01/21/2014
8
102641
Dmxl2
1.000
IGL01645
G1
9
54378733
Y2723N
A
T
missense
Het
possibly damaging
0.933
phenotype
01/21/2014
9
102642
Dnah11
0.573
IGL01645
G1
12
118186998
I342F
T
A
missense
Het
possibly damaging
0.899
phenotype
01/21/2014
10
102608
Dnajc10
0.167
IGL01645
G1
2
80340527
H454R
A
G
missense
Het
possibly damaging
0.463
phenotype
01/21/2014
11
102623
Dpy19l3
0.165
IGL01645
G1
7
35695338
T592A
T
C
missense
Het
probably benign
0.001
01/21/2014
12
102636
Eea1
0.263
IGL01645
G1
10
95989589
S49T
T
A
missense
Het
probably damaging
1.000
01/21/2014
13
102625
Esd
0.197
IGL01645
G1
14
74749719
N294K
T
A
missense
Het
probably benign
0.001
01/21/2014
14
102621
Fmo3
0.000
IGL01645
G1
1
162964006
V234A
A
G
missense
Het
possibly damaging
0.527
phenotype
01/21/2014
15
102612
Folh1
0.000
IGL01645
G1
7
86742227
F420L
A
G
missense
Het
probably damaging
0.997
phenotype
01/21/2014
16
102619
Gabra1
0.154
IGL01645
G1
11
42135562
N301S
T
C
missense
Het
probably damaging
0.999
phenotype
01/21/2014
17
102634
Gm5422
0.855
IGL01645
G1
10
31250073
A
T
exon
Het
noncoding transcript
01/21/2014
18
102614
Gorab
0.215
IGL01645
G1
1
163386431
L310Q
A
T
missense
Het
possibly damaging
0.462
phenotype
01/21/2014
19
102640
Gsdme
0.000
IGL01645
G1
6
50251336
Y51H
A
G
missense
Het
probably damaging
1.000
phenotype
01/21/2014
20
102638
Itpr1
0.844
IGL01645
G1
6
108473599
I1964T
T
C
missense
Het
possibly damaging
0.912
phenotype
01/21/2014
21
102630
Lmbr1
0.000
IGL01645
G1
5
29235055
L410P
A
G
missense
Het
probably damaging
0.999
phenotype
01/21/2014
22
102609
Lrrc37a
0.127
IGL01645
G1
11
103504264
R112G
T
C
missense
Het
probably benign
0.015
01/21/2014
23
102617
Mrgpra6
0.050
IGL01645
G1
7
47185933
T247A
T
C
missense
Het
probably benign
0.001
01/21/2014
24
102647
Mroh4
0.000
IGL01645
G1
15
74611358
A
G
splice site
Het
probably benign
01/21/2014
25
102646
Mycbpap
0.403
IGL01645
G1
11
94503467
T
C
splice site
4 bp
Het
probably null
01/21/2014
26
102613
Myoz2
0.090
IGL01645
G1
3
123034232
K12N
T
A
missense
Het
probably damaging
0.998
phenotype
01/21/2014
27
102618
Olfr412
0.156
IGL01645
G1
11
74365533
I288T
T
C
missense
Het
possibly damaging
0.948
phenotype
01/21/2014
28
102643
P3h1
0.000
IGL01645
G1
4
119236783
F212V
T
G
missense
Het
probably damaging
1.000
phenotype
01/21/2014
29
102611
Pcnx2
0.000
IGL01645
G1
8
125887917
D265G
T
C
missense
Het
probably damaging
0.997
phenotype
01/21/2014
30
102633
Pkd1l3
0.000
IGL01645
G1
8
109635302
T992I
C
T
missense
Het
possibly damaging
0.586
phenotype
01/21/2014
31
102631
Prss58
0.050
IGL01645
G1
6
40897310
D144G
T
C
missense
Het
probably damaging
0.978
phenotype
01/21/2014
32
102616
Pth2
0.161
IGL01645
G1
7
45181340
L29Q
T
A
missense
Het
possibly damaging
0.956
phenotype
01/21/2014
33
102648
Rab1b
0.661
IGL01645
G1
19
5104934
A
C
unclassified
Het
probably benign
phenotype
01/21/2014
34
102615
Rasa2
0.098
IGL01645
G1
9
96582781
C190*
A
T
nonsense
Het
probably null
phenotype
01/21/2014
35
102645
Scn9a
1.000
IGL01645
G1
2
66487642
K1501E
T
C
missense
Het
possibly damaging
0.620
phenotype
01/21/2014
36
102649
Selenoi
0.925
IGL01645
G1
5
30257823
A
G
unclassified
Het
probably benign
phenotype
01/21/2014
37
102629
Slc11a2
0.423
IGL01645
G1
15
100389118
N558S
T
C
missense
Het
probably benign
0.049
phenotype
01/21/2014
38
102628
Sox10
1.000
IGL01645
G1
15
79156339
I173V
T
C
missense
Het
probably benign
0.242
phenotype
01/21/2014
39
102637
Sra1
0.000
IGL01645
G1
18
36671473
F476C
A
C
missense
Het
probably damaging
0.999
phenotype
01/21/2014
40
102635
St5
0.315
IGL01645
G1
7
109527634
K540*
T
A
nonsense
Het
probably null
phenotype
01/21/2014
41
102626
Tmem119
0.000
IGL01645
G1
5
113795348
K131*
T
A
nonsense
Het
probably null
phenotype
01/21/2014
42
102603
Trim12c
0.077
IGL01645
G1
7
104345054
K198*
T
A
nonsense
Het
probably null
01/21/2014
43
102627
Ttn
1.000
IGL01645
G1
2
76851560
A
G
intron
Het
probably benign
phenotype
01/21/2014
44
102605
Unc119b
0.000
IGL01645
G1
5
115127312
V154I
C
T
missense
Het
probably benign
0.055
01/21/2014
45
102632
Usp47
0.860
IGL01645
G1
7
112054862
S108R
T
A
missense
Het
probably damaging
0.963
phenotype
01/21/2014
46
102606
Vmn1r15
0.131
IGL01645
G1
6
57258562
C138*
T
A
nonsense
Het
probably null
01/21/2014
47
102604
Vmn1r191
0.193
IGL01645
G1
13
22179444
I47V
T
C
missense
Het
probably benign
0.029
01/21/2014
48
102622
Wnt3
1.000
IGL01645
G1
11
103812378
A229V
C
T
missense
Het
probably benign
0.001
phenotype
01/21/2014
[records 1 to 48 of 48]