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Incidental Mutations
26
incidental mutations are currently displayed, and affect
26
genes.
3
are Possibly Damaging.
16
are Probably Damaging.
5
are Probably Benign.
2
are Probably Null.
0
create premature stop codons.
1
are critical splice junction mutations.
Mutations in Coding Regions/Splice Sites Identified by Next-Gen Sequencing
[records 1 to 26 of 26]
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
5603
Adgrl3
0.000
IGL00391
G1
5
81724224
V990M
G
A
missense
Het
probably damaging
0.988
phenotype
04/20/2012
2
6800
Ap4b1
0.279
IGL00391
G1
3
103821542
T499A
A
G
missense
Het
probably benign
0.187
phenotype
04/20/2012
3
6335
Cacna2d4
0.000
IGL00391
G1
6
119337933
T
C
splice site
Het
probably benign
phenotype
04/20/2012
4
4782
Ccr5
0.076
IGL00391
G1
9
124124406
D15E
T
A
missense
Het
possibly damaging
0.586
phenotype
04/20/2012
5
6741
Clca4b
0.070
IGL00391
G1
3
144915561
V584A
A
G
missense
Het
possibly damaging
0.805
phenotype
04/20/2012
6
5764
Cmtr1
0.962
IGL00391
G1
17
29674262
M85T
T
C
missense
Het
probably damaging
0.988
04/20/2012
7
332359
Col6a3
0.000
IGL00391
G1
1
90828255
H104L
T
A
missense
Het
probably damaging
1.000
phenotype
08/05/2015
8
6213
Coq9
0.133
IGL00391
G1
8
94850517
K170M
A
T
missense
Het
probably damaging
0.996
phenotype
04/20/2012
9
332361
Elmod1
0.000
IGL00391
G1
9
53924398
A
G
critical splice donor site
2 bp
Het
probably null
phenotype
08/05/2015
10
5587
Fam47e
0.000
IGL00391
G1
5
92579663
E143D
A
C
missense
Het
probably damaging
0.996
04/20/2012
11
6703
Faxc
0.101
IGL00391
G1
4
21948725
K146E
A
G
missense
Het
probably damaging
0.998
04/20/2012
12
6226
Gm5346
0.061
IGL00391
G1
8
43625629
F519L
A
T
missense
Het
probably damaging
1.000
04/20/2012
13
3262
Hrasls5
0.000
IGL00391
G1
19
7619266
A
T
splice site
Het
probably benign
04/20/2012
14
29384
Myo7b
0.000
IGL00391
G1
18
32021556
A
C
utr 5 prime
Het
probably benign
phenotype
04/17/2013
15
7419
Nmur1
0.000
IGL00391
G1
1
86386471
R381C
G
A
missense
Het
probably damaging
0.988
phenotype
04/20/2012
16
14864
Nsd2
0.847
IGL00391
G1
5
33855733
D469E
T
G
missense
Het
probably damaging
1.000
phenotype
12/06/2012
17
7159
Osbpl6
0.440
IGL00391
G1
2
76590439
C786Y
G
A
missense
Het
probably damaging
1.000
phenotype
04/20/2012
18
6707
Osgin2
0.299
IGL00391
G1
4
16006439
Y85C
T
C
missense
Het
probably damaging
1.000
04/20/2012
19
6465
Otof
0.147
IGL00391
G1
5
30375623
C1587R
A
G
missense
Het
probably damaging
1.000
phenotype
04/20/2012
20
5052
Plekha2
0.000
IGL00391
G1
8
25057327
V247A
A
G
missense
Het
probably damaging
0.982
phenotype
04/20/2012
21
6766
Plppr5
0.083
IGL00391
G1
3
117671943
N281I
A
T
missense
Het
possibly damaging
0.462
phenotype
04/20/2012
22
4731
Popdc3
0.000
IGL00391
G1
10
45317826
A
G
splice site
2712 bp
Het
probably null
phenotype
04/20/2012
23
4666
Ppp1r12a
1.000
IGL00391
G1
10
108198848
N85D
A
G
missense
Het
probably damaging
0.997
phenotype
04/20/2012
24
7390
Serpinb8
0.063
IGL00391
G1
1
107606984
S262G
A
G
missense
Het
probably benign
0.009
phenotype
04/20/2012
25
332360
Sspo
0.000
IGL00391
G1
6
48497386
G4780R
G
A
missense
Het
probably damaging
0.957
08/05/2015
26
7298
Ush2a
0.588
IGL00391
G1
1
188916061
E4621G
A
G
missense
Het
probably damaging
0.999
phenotype
04/20/2012
[records 1 to 26 of 26]