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Incidental Mutations
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Incidental Mutations
57
incidental mutations are currently displayed, and affect
57
genes.
10
are Possibly Damaging.
22
are Probably Damaging.
19
are Probably Benign.
4
are Probably Null.
2
create premature stop codons.
2
are critical splice junction mutations.
Mutations in Coding Regions/Splice Sites Identified by Next-Gen Sequencing
[records 1 to 57 of 57]
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
538128
1520401A03Rik
0.067
R6892
G1
225.01
Y
17
23712354
L193P
A
G
missense
Het
probably damaging
0.974
11/06/2018
2
538115
4930442H23Rik
0.122
R6892
G1
225.01
Y
10
81183144
C
A
unclassified
Het
probably benign
11/06/2018
3
538105
4933421I07Rik
0.061
R6892
G1
225.01
Y
7
42446407
Q139R
T
C
missense
Het
probably benign
0.353
11/06/2018
4
538133
A930002H24Rik
0.129
R6892
G1
156.01
Y
17
63863764
V10M
C
T
missense
Het
unknown
11/06/2018
5
538090
Acvr2a
0.000
R6892
G1
225.01
Y
2
48897075
L394Q
T
A
missense
Het
probably damaging
1.000
phenotype
11/06/2018
6
538126
Ano6
0.353
R6892
G1
225.01
Y
15
95967624
Y830H
T
C
missense
Het
probably damaging
1.000
phenotype
11/06/2018
7
538091
Atp8b4
0.056
R6892
G1
225.01
Y
2
126343002
I914F
T
A
missense
Het
possibly damaging
0.935
0.120
phenotype
11/06/2018
8
538083
Cab39
0.954
R6892
G1
225.01
Y
1
85848377
D265G
A
G
missense
Het
probably damaging
1.000
0.960
11/06/2018
9
538107
Capn5
0.109
R6892
G1
225.01
Y
7
98135941
W109R
A
T
missense
Het
probably damaging
0.999
phenotype
11/06/2018
10
538084
Cdk18
0.372
R6892
G1
200.01
Y
1
132122110
T44K
G
T
missense
Het
probably benign
0.011
0.090
11/06/2018
11
538110
Cdt1
0.963
R6892
G1
225.01
Y
8
122570212
N248K
T
A
missense
Het
probably damaging
1.000
phenotype
11/06/2018
12
538100
Cpa4
0.000
R6892
G1
225.01
Y
6
30583629
R248L
G
T
missense
Het
probably benign
0.000
phenotype
11/06/2018
13
538137
Cpt1a
1.000
R6892
G1
225.01
Y
19
3371660
V481M
G
A
missense
Het
probably benign
0.003
phenotype
11/06/2018
14
538099
Cyp3a11
0.000
R6892
G1
225.01
Y
5
145860448
L374F
G
A
missense
Het
probably damaging
0.979
11/06/2018
15
538123
Dcdc2a
0.199
R6892
G1
225.01
Y
13
25056460
N64D
A
G
missense
Het
probably damaging
0.997
0.336
phenotype
11/06/2018
16
538136
Dmxl1
0.936
R6892
G1
225.01
Y
18
49920902
R2525Q
G
A
missense
Het
probably damaging
0.978
0.128
phenotype
11/06/2018
17
538111
Dscaml1
0.617
R6892
G1
225.01
N
9
45683830
V744M
G
A
missense
Het
probably damaging
0.986
phenotype
11/06/2018
18
538122
Dync1h1
1.000
R6892
G1
225.01
Y
12
110638901
E2391K
G
A
missense
Het
probably benign
0.001
phenotype
11/06/2018
19
538120
Ezh1
0.000
R6892
G1
225.01
Y
11
101199361
Y522*
A
T
nonsense
Het
probably null
phenotype
11/06/2018
20
538125
Fzd3
1.000
R6892
G1
225.01
Y
14
65209881
A533G
G
C
missense
Het
possibly damaging
0.904
phenotype
11/06/2018
21
538093
Gm14403
0.139
R6892
G1
117.01
N
2
177509247
C329G
T
G
missense
Het
probably damaging
1.000
11/06/2018
22
538106
Gm17067
0.076
R6892
G1
225.01
Y
7
42710675
A
C
critical splice donor site
2 bp
Het
probably null
11/06/2018
23
538094
Gm38119
0.169
R6892
G1
225.01
Y
3
92738222
C22R
A
G
missense
Het
unknown
11/06/2018
24
538082
Gtf3c3
0.964
R6892
G1
225.01
Y
1
54415941
S588P
A
G
missense
Het
probably benign
0.001
phenotype
11/06/2018
25
538129
Ift140
1.000
R6892
G1
225.01
Y
17
25020546
E59G
A
G
missense
Het
possibly damaging
0.951
phenotype
11/06/2018
26
538097
Ints1
1.000
R6892
G1
225.01
Y
5
139767828
M683K
A
T
missense
Het
probably damaging
0.987
0.427
phenotype
11/06/2018
27
538135
Iws1
0.956
R6892
G1
225.01
Y
18
32086274
M470V
A
G
missense
Het
probably damaging
0.987
11/06/2018
28
538088
Mptx1
0.105
R6892
G1
225.01
Y
1
174332265
R46G
A
G
missense
Het
probably benign
0.090
0.090
11/06/2018
29
538114
Nhsl1
0.000
R6892
G1
225.01
Y
10
18524343
T439I
C
T
missense
Het
probably damaging
1.000
11/06/2018
30
538108
Olfr517
0.132
R6892
G1
225.01
Y
7
108868515
L213P
A
G
missense
Het
probably damaging
1.000
phenotype
11/06/2018
31
538104
Peg3
0.000
R6892
G1
225.01
Y
7
6708899
S1108N
C
T
missense
Het
possibly damaging
0.577
0.179
phenotype
11/06/2018
32
538096
Pgm2
0.865
R6892
G1
225.01
Y
4
99929708
E48G
A
G
missense
Het
probably benign
0.000
phenotype
11/06/2018
33
538081
Pkhd1
0.118
R6892
G1
225.01
Y
1
20523515
T1458I
G
A
missense
Het
probably damaging
0.998
phenotype
11/06/2018
34
538101
Polr1a
1.000
R6892
G1
225.01
Y
6
71964712
D1068V
A
T
missense
Het
possibly damaging
0.721
phenotype
11/06/2018
35
538117
Ptprq
0.444
R6892
G1
225.01
Y
10
107576004
T1834A
T
C
missense
Het
probably benign
0.001
phenotype
11/06/2018
36
538089
Rapgef1
1.000
R6892
G1
225.01
Y
2
29699840
T
C
critical splice donor site
2 bp
Het
probably null
phenotype
11/06/2018
37
538085
Rgl1
0.341
R6892
G1
225.01
Y
1
152539940
D409E
A
T
missense
Het
probably benign
0.005
0.090
phenotype
11/06/2018
38
538086
Rgsl1
0.000
R6892
G1
225.01
Y
1
153821499
Y558*
G
T
nonsense
Het
probably null
0.976
11/06/2018
39
538134
Rock1
0.946
R6892
G1
225.01
Y
18
10122612
R403H
C
T
missense
Het
probably benign
0.001
phenotype
11/06/2018
40
538113
Scn11a
0.108
R6892
G1
225.01
Y
9
119806969
D304V
T
A
missense
Het
possibly damaging
0.529
0.179
phenotype
11/06/2018
41
538098
Sdk1
0.101
R6892
G1
225.01
Y
5
142046298
I1043F
A
T
missense
Het
probably benign
0.005
0.145
phenotype
11/06/2018
42
538095
Sgms2
0.163
R6892
G1
225.01
Y
3
131342154
Y24H
A
G
missense
Het
probably benign
0.000
phenotype
11/06/2018
43
538092
Sppl2a
0.084
R6892
G1
225.01
Y
2
126913575
I372T
A
G
missense
Het
probably damaging
0.997
0.801
phenotype
11/06/2018
44
538118
Sptbn1
1.000
R6892
G1
225.01
Y
11
30142187
M526T
A
G
missense
Het
probably benign
0.274
0.059
phenotype
11/06/2018
45
538127
Stxbp5l
0.000
R6892
G1
225.01
Y
16
37188629
S683T
A
T
missense
Het
possibly damaging
0.936
phenotype
11/06/2018
46
538124
Syk
1.000
R6892
G1
225.01
Y
13
52632898
R332S
A
T
missense
Het
probably benign
0.001
0.177
phenotype
11/06/2018
47
538121
Syne2
0.293
R6892
G1
225.01
Y
12
75962528
V2401E
T
A
missense
Het
probably damaging
0.980
phenotype
11/06/2018
48
538103
Tarm1
0.068
R6892
G1
225.01
Y
7
3497490
Y87C
T
C
missense
Het
probably damaging
0.998
0.810
11/06/2018
49
538130
Tbc1d22b
0.199
R6892
G1
225.01
Y
17
29595890
K378E
A
G
missense
Het
possibly damaging
0.795
11/06/2018
50
538131
Tcte1
0.000
R6892
G1
225.01
Y
17
45533157
T20A
A
G
missense
Het
probably benign
0.000
0.090
11/06/2018
51
538087
Tor1aip2
0.222
R6892
G1
225.01
Y
1
156065181
Y411F
A
T
missense
Het
possibly damaging
0.955
0.457
11/06/2018
52
538112
Trim43c
0.085
R6892
G1
225.01
Y
9
88844924
M267K
T
A
missense
Het
probably benign
0.355
11/06/2018
53
538132
Ubr2
0.867
R6892
G1
225.01
Y
17
46934108
Y1664S
T
G
missense
Het
probably damaging
0.994
0.066
phenotype
11/06/2018
54
538116
Uhrf1bp1l
0.385
R6892
G1
225.01
Y
10
89805123
V719I
G
A
missense
Het
probably benign
0.021
11/06/2018
55
538102
Vmn1r41
0.058
R6892
G1
225.01
N
6
89747181
Q235K
C
A
missense
Het
possibly damaging
0.502
11/06/2018
56
538109
Wdr17
0.000
R6892
G1
225.01
Y
8
54673596
T401A
T
C
missense
Het
probably damaging
0.996
0.164
phenotype
11/06/2018
57
538119
Zfp454
0.066
R6892
G1
225.01
Y
11
50873198
L469P
A
G
missense
Het
probably damaging
1.000
11/06/2018
[records 1 to 57 of 57]