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Incidental Mutations
52
incidental mutations are currently displayed, and affect
52
genes.
9
are Possibly Damaging.
15
are Probably Damaging.
20
are Probably Benign.
3
are Probably Null.
1
create premature stop codons.
2
are critical splice junction mutations.
Mutations in Coding Regions/Splice Sites Identified by Next-Gen Sequencing
[records 1 to 52 of 52]
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
563131
2210017I01Rik
R7240
G1
225.01
Y
3
92605075
I59T
A
G
missense
Het
unknown
06/26/2019
2
563122
Aspm
0.000
R7240
G1
225.01
Y
1
139478651
Q1759*
C
T
nonsense
Het
probably null
0.971
phenotype
06/26/2019
3
563139
Atn1
0.000
R7240
G1
225.01
Y
6
124747898
I124K
A
T
missense
Het
unknown
phenotype
06/26/2019
4
563129
Catsper2
0.145
R7240
G1
135.47
N
2
121397572
TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT
TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT
utr 3 prime
Het
probably benign
phenotype
06/26/2019
5
563159
Ccdc88c
0.000
R7240
G1
225.01
Y
12
100944939
V879M
C
T
missense
Het
probably benign
0.165
phenotype
06/26/2019
6
563158
Cd300c
0.000
R7240
G1
225.01
Y
11
114959783
C65R
A
G
missense
Het
possibly damaging
0.933
0.392
06/26/2019
7
563140
Cd69
0.072
R7240
G1
225.01
Y
6
129270042
S112T
A
T
missense
Het
possibly damaging
0.781
phenotype
06/26/2019
8
563120
Cdh19
0.000
R7240
G1
225.01
Y
1
110893407
T534A
T
C
missense
Het
probably benign
0.000
0.077
phenotype
06/26/2019
9
563133
Cdk5rap2
0.368
R7240
G1
225.01
Y
4
70291908
D701V
T
A
missense
Het
probably damaging
0.998
phenotype
06/26/2019
10
563155
D130052B06Rik
0.129
R7240
G1
225.01
Y
11
33623874
H157R
A
G
missense
Het
possibly damaging
0.787
06/26/2019
11
563142
Dpf1
0.000
R7240
G1
225.01
Y
7
29311627
F150L
T
A
missense
Het
probably benign
0.007
06/26/2019
12
563167
Dsg1c
0.000
R7240
G1
225.01
Y
18
20283109
L689P
T
C
missense
Het
probably damaging
1.000
phenotype
06/26/2019
13
563121
Dstyk
0.167
R7240
G1
225.01
Y
1
132454123
M538I
G
A
missense
Het
probably benign
0.017
phenotype
06/26/2019
14
563165
E4f1
1.000
R7240
G1
225.01
Y
17
24444325
I669F
T
A
missense
Het
probably damaging
1.000
phenotype
06/26/2019
15
563151
Gm7138
0.088
R7240
G1
225.01
N
10
77776755
T64A
T
C
missense
Het
unknown
06/26/2019
16
563149
Gnai2
0.776
R7240
G1
225.01
Y
9
107615773
D310E
A
C
missense
Het
0.087
phenotype
06/26/2019
17
563119
Iqca
0.000
R7240
G1
225.01
Y
1
90070550
V567A
A
G
missense
Het
possibly damaging
0.878
phenotype
06/26/2019
18
563143
Iqgap1
0.000
R7240
G1
225.01
Y
7
80759839
N249K
A
T
missense
Het
probably benign
0.223
phenotype
06/26/2019
19
563123
Lamc1
1.000
R7240
G1
225.01
Y
1
153234650
V1093A
A
G
missense
Het
possibly damaging
0.816
0.081
phenotype
06/26/2019
20
563156
Mfap3
0.091
R7240
G1
225.01
Y
11
57529756
K188E
A
G
missense
Het
probably damaging
1.000
0.114
06/26/2019
21
563134
N4bp2
0.145
R7240
G1
225.01
Y
5
65794545
V431D
T
A
missense
Het
probably damaging
0.958
0.647
phenotype
06/26/2019
22
563166
Notch4
0.000
R7240
G1
225.01
Y
17
34576471
T792A
A
G
missense
Het
probably benign
0.002
phenotype
06/26/2019
23
563154
Ntn4
0.000
R7240
G1
225.01
Y
10
93745741
H592R
A
G
missense
Het
probably damaging
0.985
phenotype
06/26/2019
24
563161
Ofcc1
0.000
R7240
G1
224.01
N
13
40208841
C202R
A
G
missense
Het
probably benign
0.000
phenotype
06/26/2019
25
563137
Olfr13
0.493
R7240
G1
225.01
Y
6
43174501
K172E
A
G
missense
Het
probably benign
0.000
phenotype
06/26/2019
26
563124
Olfr418
0.126
R7240
G1
225.01
Y
1
173270994
I273T
T
C
missense
Het
probably benign
0.269
0.090
phenotype
06/26/2019
27
563144
Olfr476
0.085
R7240
G1
225.01
Y
7
107968188
S264P
T
C
missense
Het
probably benign
0.417
phenotype
06/26/2019
28
563145
Olfr497
0.068
R7240
G1
225.01
Y
7
108422933
M121V
A
G
missense
Het
probably damaging
1.000
phenotype
06/26/2019
29
563147
Olfr922
0.057
R7240
G1
225.01
Y
9
38815713
D70G
A
G
missense
Het
probably benign
0.006
0.090
phenotype
06/26/2019
30
563148
Olfr938
0.063
R7240
G1
225.01
Y
9
39078610
M45K
A
T
missense
Het
probably damaging
0.992
0.647
phenotype
06/26/2019
31
563153
Parpbp
0.000
R7240
G1
225.01
Y
10
88124940
T228I
G
A
missense
Het
probably damaging
0.993
06/26/2019
32
563168
Pcdhgb8
0.121
R7240
G1
225.01
Y
18
37763703
V609M
G
A
missense
Het
probably damaging
0.994
06/26/2019
33
563128
Pla2g4d
0.068
R7240
G1
225.01
Y
2
120270349
N543S
T
C
missense
Het
probably damaging
1.000
phenotype
06/26/2019
34
574703
Puf60
0.956
R7240
G1
225.01
Y
15
76072539
A
G
unclassified
Het
probably benign
phenotype
10/07/2019
35
563150
Rbm6
0.938
R7240
G1
225.01
Y
9
107852896
D184E
A
T
missense
Het
probably damaging
1.000
0.122
06/26/2019
36
563162
Rnase9
0.000
R7240
G1
225.01
Y
14
51038979
S181A
A
C
missense
Het
probably benign
0.117
phenotype
06/26/2019
37
563132
Rnpc3
1.000
R7240
G1
225.01
Y
3
113616831
R270S
T
A
missense
Het
probably damaging
0.999
phenotype
06/26/2019
38
563157
Rundc1
0.799
R7240
G1
225.01
Y
11
101431548
T
C
critical splice donor site
2 bp
Het
probably null
06/26/2019
39
563141
Ryr1
1.000
R7240
G1
225.01
Y
7
29052015
S3715G
T
C
missense
Het
possibly damaging
0.954
0.249
phenotype
06/26/2019
40
563126
Scn3a
1.000
R7240
G1
225.01
Y
2
65469042
D1373E
A
T
missense
Het
possibly damaging
0.772
0.165
phenotype
06/26/2019
41
563160
Serpina3k
0.059
R7240
G1
225.01
Y
12
104340602
I31S
T
G
missense
Het
probably benign
0.047
06/26/2019
42
563146
Sipa1l2
0.408
R7240
G1
225.01
Y
8
125469860
F712L
A
G
missense
Het
probably damaging
0.999
phenotype
06/26/2019
43
563169
Slc22a29
0.000
R7240
G1
225.01
Y
19
8161511
V529A
A
G
missense
Het
probably damaging
0.977
06/26/2019
44
563163
Tdrd3
0.421
R7240
G1
225.01
Y
14
87458803
N58S
A
G
missense
Het
probably benign
0.057
phenotype
06/26/2019
45
563130
Tmc2
0.210
R7240
G1
225.01
Y
2
130234804
T350I
C
T
missense
Het
possibly damaging
0.800
phenotype
06/26/2019
46
563135
Tpst2
0.683
R7240
G1
225.01
Y
5
112307678
C28R
T
C
missense
Het
probably benign
0.048
0.353
phenotype
06/26/2019
47
563136
Trbv21
0.059
R7240
G1
225.01
Y
6
41202958
K69N
A
T
missense
Het
probably benign
0.044
06/26/2019
48
563152
Trpm2
0.124
R7240
G1
225.01
Y
10
77935876
A
G
critical splice donor site
2 bp
Het
probably null
phenotype
06/26/2019
49
563127
Ttn
1.000
R7240
G1
225.01
Y
2
76848990
V10796A
A
G
missense
Het
unknown
phenotype
06/26/2019
50
563125
Ush2a
0.572
R7240
G1
225.01
Y
1
188911661
T4407A
A
G
missense
Het
possibly damaging
0.830
0.179
phenotype
06/26/2019
51
563164
Vmn2r95
0.071
R7240
G1
225.01
Y
17
18451963
H726R
A
G
missense
Het
probably benign
0.151
06/26/2019
52
563138
Zfp777
0.867
R7240
G1
225.01
Y
6
48044449
S80P
A
G
missense
Het
probably benign
0.001
06/26/2019
[records 1 to 52 of 52]