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Incidental Mutations
56
incidental mutations are currently displayed, and affect
55
genes.
16
are Possibly Damaging.
14
are Probably Damaging.
12
are Probably Benign.
13
are Probably Null.
7
create premature stop codons.
2
are critical splice junction mutations.
Mutations in Coding Regions/Splice Sites Identified by Next-Gen Sequencing
[records 1 to 56 of 56]
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
396987
0610040J01Rik
0.078
R5161
G1
225
Y
5
63898001 (GRCm38)
E27*
G
T
nonsense
Het
probably null
0.976
2016-06-21
2
397025
1700061G19Rik
0.088
R5161
G1
225
Y
17
56882888 (GRCm38)
I305F
A
T
missense
Het
possibly damaging
0.842
0.179
2016-06-21
3
396971
3110035E14Rik
0.000
R5161
G1
225
Y
1
9622677 (GRCm38)
G145*
G
T
nonsense
Het
probably null
0.976
2016-06-21
4
397017
4930407I10Rik
0.062
R5161
G1
225
Y
15
82063341 (GRCm38)
E480*
G
T
nonsense
Het
probably null
0.976
2016-06-21
5
397003
Acad11
0.110
R5161
G1
225
Y
9
104124028 (GRCm38)
I591T
T
C
missense
Het
probably benign
0.191
0.139
phenotype
2016-06-21
6
396977
Adamts13
0.099
R5161
G1
225
Y
2
26993008 (GRCm38)
E857K
G
A
missense
Het
probably benign
0.002
0.111
phenotype
2016-06-21
7
397012
Apopt1
0.150
R5161
G1
225
Y
12
111722774 (GRCm38)
Q97K
C
A
missense
Het
possibly damaging
0.545
0.142
phenotype
2016-06-21
8
453055
Atf2
0.941
R5161
G1
225
Y
2
73829790 (GRCm38)
A
C
critical splice donor site
2 bp
Het
probably null
0.949
phenotype
2017-01-26
9
396986
Cass4
0.000
R5161
G1
225
Y
2
172432324 (GRCm38)
A675E
C
A
missense
Het
probably damaging
1.000
0.186
2016-06-21
10
396997
Ctsd
1.000
R5161
G1
225
Y
7
142377144 (GRCm38)
L283Q
A
T
missense
Het
probably damaging
1.000
0.909
phenotype
2016-06-21
11
396983
Ddrgk1
1.000
R5161
G1
225
Y
2
130663376 (GRCm38)
M1K
A
T
start codon destroyed
Het
probably null
0.976
phenotype
2016-06-21
12
396996
Dock1
1.000
R5161
G1
225
Y
7
134734062 (GRCm38)
A62T
G
A
missense
Het
possibly damaging
0.688
0.077
phenotype
2016-06-21
13
396974
Ehmt1
1.000
R5161
G1
225
Y
2
24858195 (GRCm38)
D407G
T
C
missense
Het
possibly damaging
0.708
0.179
phenotype
2016-06-21
14
397005
Eml6
0.291
R5161
G1
225
Y
11
30024467 (GRCm38)
V37A
A
G
missense
Het
probably damaging
0.992
0.190
2016-06-21
15
397008
Fam20a
0.000
R5161
G1
225
Y
11
109673370 (GRCm38)
R519Q
C
T
missense
Het
probably benign
0.001
0.090
phenotype
2016-06-21
16
396976
Fam69b
0.148
R5161
G1
225
Y
2
26636248 (GRCm38)
T398M
C
T
missense
Het
possibly damaging
0.915
0.116
phenotype
2016-06-21
17
396998
Fat1
1.000
R5161
G1
225
Y
8
44952512 (GRCm38)
T767A
A
G
missense
Het
probably benign
0.001
0.090
phenotype
2016-06-21
18
397000
Fbxl8
0.000
R5161
G1
125
Y
8
105268906 (GRCm38)
H350L
A
T
missense
Het
possibly damaging
0.712
0.184
phenotype
2016-06-21
19
397024
Gm10226
0.113
R5161
G1
225
Y
17
21691927 (GRCm38)
Q23P
A
C
missense
Het
possibly damaging
0.711
0.179
2016-06-21
20
397002
Gm17677
0.089
R5161
G1
225
Y
9
35741588 (GRCm38)
L42*
T
A
nonsense
Het
probably null
0.976
2016-06-21
21
397011
Gm2075
0.710
R5161
G1
225
N
12
88012117 (GRCm38)
D90E
T
A
missense
Het
possibly damaging
0.915
2016-06-21
22
396984
Gm21994
0.462
R5161
G1
225
Y
2
150255215 (GRCm38)
I98K
A
T
missense
Het
probably damaging
0.988
0.647
2016-06-21
23
396991
Gm38706
0.207
R5161
G1
225
Y
6
130482905 (GRCm38)
A
T
unclassified
Het
noncoding transcript
0.087
2016-06-21
24
397010
Gpatch2l
0.000
R5161
G1
225
Y
12
86267176 (GRCm38)
R362L
G
T
missense
Het
probably benign
0.174
0.287
2016-06-21
25
397014
H2afy
0.000
R5161
G1
225
Y
13
56089781 (GRCm38)
D222G
T
C
missense
Het
probably benign
0.049
0.098
phenotype
2016-06-21
26
396989
Hyal5
0.061
R5161
G1
225
Y
6
24891603 (GRCm38)
D472V
A
T
missense
Het
probably benign
0.002
0.090
phenotype
2016-06-21
27
397013
Ighv5-9-1
0.126
R5161
G1
225
Y
12
113736157 (GRCm38)
S102G
T
C
missense
Het
possibly damaging
0.697
0.179
2016-06-21
28
396982
Itpripl1
0.085
R5161
G1
225
Y
2
127141857 (GRCm38)
L115R
A
C
missense
Het
probably damaging
1.000
0.847
2016-06-21
29
397022
Itsn1
0.000
R5161
G1
225
Y
16
91908838 (GRCm38)
C169Y
G
A
missense
Het
possibly damaging
0.955
0.461
phenotype
2016-06-21
30
397019
Krt88
0.000
R5161
G1
225
Y
15
101450468 (GRCm38)
C12S
T
A
missense
Het
probably benign
0.276
0.090
2016-06-21
31
397021
Muc4
0.099
R5161
G1
225
Y
16
32762521 (GRCm38)
V2557M
G
A
missense
Het
probably damaging
0.979
0.347
phenotype
2016-06-21
32
396985
Myh7b
0.000
R5161
G1
90
Y
2
155632373 (GRCm38)
R1669S
G
C
missense
Het
possibly damaging
0.752
0.179
phenotype
2016-06-21
33
397004
Nbeal2
0.261
R5161
G1
225
Y
9
110629868 (GRCm38)
Q1996K
G
T
missense
Het
probably benign
0.000
0.073
phenotype
2016-06-21
34
397006
Obscn
0.766
R5161
G1
225
Y
11
59028604 (GRCm38)
E6205G
T
C
missense
Het
probably damaging
0.997
0.259
phenotype
2016-06-21
35
397007
Obscn
0.766
R5161
G1
225
Y
11
59064310 (GRCm38)
Y3926H
A
G
missense
Het
possibly damaging
0.597
0.383
phenotype
2016-06-21
36
397027
Olfr1436
0.054
R5161
G1
225
Y
19
12298789 (GRCm38)
S114R
A
T
missense
Het
probably damaging
0.990
0.442
phenotype
2016-06-21
37
396993
Olfr305
0.092
R5161
G1
225
Y
7
86364338 (GRCm38)
T
C
splice site
Het
probably null
0.976
phenotype
2016-06-21
38
396994
P2ry2
0.108
R5161
G1
225
Y
7
100998929 (GRCm38)
Y56*
A
T
nonsense
Het
probably null
0.976
phenotype
2016-06-21
39
396981
Pde1a
0.000
R5161
G1
225
Y
2
79878144 (GRCm38)
N242S
T
C
missense
Het
probably null
1.000
0.548
phenotype
2016-06-21
40
397009
Pik3cg
0.000
R5161
G1
225
Y
12
32204978 (GRCm38)
E337K
C
T
missense
Het
possibly damaging
0.923
0.110
phenotype
2016-06-21
41
396973
Plxna2
0.000
R5161
G1
225
Y
1
194751404 (GRCm38)
N587S
A
G
missense
Het
probably benign
0.000
0.090
phenotype
2016-06-21
42
396975
Pmpca
0.943
R5161
G1
225
N
2
26395171 (GRCm38)
T
C
critical splice donor site
2 bp
Het
probably null
phenotype
2016-06-21
43
396972
Ptpn4
0.236
R5161
G1
225
Y
1
119707863 (GRCm38)
W370*
C
T
nonsense
Het
probably null
0.976
phenotype
2016-06-21
44
397023
Qk
1.000
R5161
G1
225
Y
17
10215490 (GRCm38)
A
T
splice site
Het
probably null
0.976
phenotype
2016-06-21
45
397018
Rapgef3
0.214
R5161
G1
225
Y
15
97757725 (GRCm38)
V427A
A
G
missense
Het
probably damaging
0.996
0.159
phenotype
2016-06-21
46
397026
Rbbp8
1.000
R5161
G1
225
Y
18
11722114 (GRCm38)
D465E
T
G
missense
Het
probably damaging
1.000
0.064
phenotype
2016-06-21
47
396979
Scn2a
1.000
R5161
G1
225
Y
2
65764591 (GRCm38)
K1928R
A
G
missense
Het
probably benign
0.002
0.073
phenotype
2016-06-21
48
396999
Slc5a5
0.000
R5161
G1
178
Y
8
70888848 (GRCm38)
C346G
A
C
missense
Het
probably damaging
1.000
0.473
phenotype
2016-06-21
49
397001
Spata2l
0.062
R5161
G1
225
Y
8
123235549 (GRCm38)
L91P
A
G
missense
Het
probably damaging
0.996
0.662
2016-06-21
50
396992
Syt3
0.183
R5161
G1
156
Y
7
44396015 (GRCm38)
H560N
C
A
missense
Het
possibly damaging
0.948
0.106
2016-06-21
51
397015
Timm23
1.000
R5161
G1
225
Y
14
32193925 (GRCm38)
P63L
G
A
missense
Het
probably damaging
1.000
0.542
phenotype
2016-06-21
52
397020
Tmem191c
0.083
R5161
G1
225
Y
16
17276879 (GRCm38)
S108P
T
C
missense
Het
possibly damaging
0.930
0.179
2016-06-21
53
396980
Ttc21b
1.000
R5161
G1
225
Y
2
66229023 (GRCm38)
C545R
A
G
missense
Het
probably damaging
0.977
0.852
phenotype
2016-06-21
54
397016
Ttc23l
0.070
R5161
G1
225
Y
15
10551550 (GRCm38)
T30K
G
T
missense
Het
possibly damaging
0.955
0.153
2016-06-21
55
396995
Usp17ld
0.074
R5161
G1
225
Y
7
103250372 (GRCm38)
L451*
A
T
nonsense
Het
probably null
0.976
2016-06-21
56
396990
Vmn1r15
0.117
R5161
G1
225
Y
6
57258512 (GRCm38)
Y122H
T
C
missense
Het
probably benign
0.002
0.090
2016-06-21
[records 1 to 56 of 56]