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Incidental Mutations
37
incidental mutations are currently displayed, and affect
36
genes.
5
are Possibly Damaging.
11
are Probably Damaging.
17
are Probably Benign.
4
are Probably Null.
4
create premature stop codons.
0
are critical splice junction mutations.
Mutations in Coding Regions/Splice Sites Identified by Next-Gen Sequencing
[records 1 to 37 of 37]
10
25
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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
154047
Abca16
0.000
IGL01774
G1
7
120477835
D708G
A
G
missense
Het
probably damaging
0.999
02/04/2014
2
154060
Abca16
0.000
IGL01774
G1
7
120421801
T
C
splice site
Het
probably benign
02/04/2014
3
154046
Abcc5
0.000
IGL01774
G1
16
20378457
D674G
T
C
missense
Het
probably damaging
1.000
phenotype
02/04/2014
4
154059
Abr
0.695
IGL01774
G1
11
76464299
A
G
splice site
Het
probably benign
phenotype
02/04/2014
5
154028
Arfgef3
0.146
IGL01774
G1
10
18743615
I4T
A
G
missense
Het
possibly damaging
0.936
phenotype
02/04/2014
6
154044
Btla
0.053
IGL01774
G1
16
45250548
N290S
A
G
missense
Het
possibly damaging
0.782
phenotype
02/04/2014
7
154045
Catip
0.000
IGL01774
G1
1
74368483
R325S
C
A
missense
Het
probably damaging
1.000
02/04/2014
8
154053
Cep120
0.809
IGL01774
G1
18
53706830
L786P
A
G
missense
Het
possibly damaging
0.921
phenotype
02/04/2014
9
154043
Cnot8
0.919
IGL01774
G1
11
58115307
I221V
A
G
missense
Het
probably benign
0.006
02/04/2014
10
154048
Eloc
0.952
IGL01774
G1
1
16645789
D37E
A
T
missense
Het
probably benign
0.056
phenotype
02/04/2014
11
154054
Fabp12
0.072
IGL01774
G1
3
10247694
N89K
A
C
missense
Het
probably benign
0.003
02/04/2014
12
154042
Ficd
0.000
IGL01774
G1
5
113739012
R416L
G
T
missense
Het
probably damaging
0.980
02/04/2014
13
154057
Frmd3
0.305
IGL01774
G1
4
74187838
Y574H
T
C
missense
Het
probably damaging
1.000
phenotype
02/04/2014
14
154058
Frmd4a
0.169
IGL01774
G1
2
4535236
T
C
splice site
Het
probably benign
phenotype
02/04/2014
15
154052
Gatc
0.676
IGL01774
G1
5
115341017
Q45*
G
A
nonsense
Het
probably null
02/04/2014
16
154030
Gm5414
0.137
IGL01774
G1
15
101626975
D225G
T
C
missense
Het
probably benign
0.132
02/04/2014
17
154034
Itpkc
0.410
IGL01774
G1
7
27212370
A592E
G
T
missense
Het
probably benign
0.048
phenotype
02/04/2014
18
154051
Kl
0.000
IGL01774
G1
5
150988483
V566L
G
T
missense
Het
probably benign
0.001
phenotype
02/04/2014
19
154026
Lpin1
0.529
IGL01774
G1
12
16558476
D545V
T
A
missense
Het
probably damaging
0.959
phenotype
02/04/2014
20
154039
Mtcl1
0.246
IGL01774
G1
17
66385885
Y483C
T
C
missense
Het
probably damaging
0.995
phenotype
02/04/2014
21
154037
Neb
0.894
IGL01774
G1
2
52222970
W67*
C
T
nonsense
Het
probably null
phenotype
02/04/2014
22
154049
Nrarp
0.912
IGL01774
G1
2
25181286
V59A
T
C
missense
Het
possibly damaging
0.922
phenotype
02/04/2014
23
154035
Nuf2
0.941
IGL01774
G1
1
169506072
T345M
G
A
missense
Het
probably benign
0.000
phenotype
02/04/2014
24
154025
Olfr659
0.108
IGL01774
G1
7
104670942
I80T
T
C
missense
Het
probably benign
0.014
phenotype
02/04/2014
25
154032
Pacs2
0.000
IGL01774
G1
12
113056842
H278Q
T
A
missense
Het
probably benign
0.012
phenotype
02/04/2014
26
154055
Pot1a
1.000
IGL01774
G1
6
25753277
K420R
T
C
missense
Het
probably benign
0.004
phenotype
02/04/2014
27
154031
Rag2
0.206
IGL01774
G1
2
101630047
Y234C
A
G
missense
Het
probably damaging
1.000
phenotype
02/04/2014
28
154056
Ralgds
0.174
IGL01774
G1
2
28550542
Q88*
C
T
nonsense
Het
probably null
phenotype
02/04/2014
29
154033
Rictor
1.000
IGL01774
G1
15
6769777
S365P
T
C
missense
Het
probably damaging
1.000
phenotype
02/04/2014
30
154027
Slco1a1
0.276
IGL01774
G1
6
141925613
Q276*
G
A
nonsense
Het
probably null
phenotype
02/04/2014
31
154029
Tas2r134
0.058
IGL01774
G1
2
51628148
T213I
C
T
missense
Het
probably benign
0.066
02/04/2014
32
154050
Tecpr1
0.000
IGL01774
G1
5
144211540
I349T
A
G
missense
Het
probably damaging
0.970
phenotype
02/04/2014
33
154024
Tnxb
0.000
IGL01774
G1
17
34688839
S1286P
T
C
missense
Het
probably damaging
1.000
phenotype
02/04/2014
34
154040
Trafd1
0.000
IGL01774
G1
5
121375050
V375A
A
G
missense
Het
possibly damaging
0.930
phenotype
02/04/2014
35
154038
Vmn2r110
0.222
IGL01774
G1
17
20583627
I229L
T
A
missense
Het
probably benign
0.006
02/04/2014
36
154036
Vnn1
0.099
IGL01774
G1
10
23900710
Y320H
T
C
missense
Het
probably benign
0.262
phenotype
02/04/2014
37
154041
Zfp990
0.059
IGL01774
G1
4
145536948
V172A
T
C
missense
Het
probably benign
0.285
02/04/2014
[records 1 to 37 of 37]