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Incidental Mutations
51
incidental mutations are currently displayed, and affect
51
genes.
7
are Possibly Damaging.
21
are Probably Damaging.
17
are Probably Benign.
5
are Probably Null.
2
create premature stop codons.
1
are critical splice junction mutations.
Mutations in Coding Regions/Splice Sites Identified by Next-Gen Sequencing
[records 1 to 51 of 51]
10
25
50
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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
313494
Abcc12
0.062
R4031
G1
225
Y
8
86517448
F1025L
G
T
missense
Het
probably damaging
0.999
0.647
phenotype
04/30/2015
2
313479
Acss2
0.380
R4031
G1
225
Y
2
155557210
T477I
C
T
missense
Het
probably damaging
1.000
0.869
phenotype
04/30/2015
3
313498
Aplp2
0.000
R4031
G1
225
Y
9
31157730
P601L
G
A
missense
Het
probably benign
0.002
0.103
phenotype
04/30/2015
4
313495
Arl2bp
0.000
R4031
G1
225
Y
8
94667653
I32T
T
C
missense
Het
probably damaging
0.999
0.734
phenotype
04/30/2015
5
313516
Avpi1
0.000
R4031
G1
167
Y
19
42124741
C
A
unclassified
Het
probably benign
04/30/2015
6
313501
C030005K15Rik
0.058
R4031
G1
213
Y
10
97725542
Y109C
T
C
missense
Het
unknown
0.087
04/30/2015
7
313467
Ccdc150
0.066
R4031
G1
225
Y
1
54278811
M303K
T
A
missense
Het
probably benign
0.315
0.090
04/30/2015
8
313499
Chrna5
0.130
R4031
G1
225
Y
9
54998086
W61R
T
C
missense
Het
probably damaging
1.000
0.470
phenotype
04/30/2015
9
313470
Copa
0.971
R4031
G1
225
Y
1
172108375
V428A
T
C
missense
Het
probably damaging
1.000
0.310
phenotype
04/30/2015
10
313487
Crybb3
0.000
R4031
G1
225
Y
5
113079869
Y29H
A
G
missense
Het
probably damaging
0.997
0.734
phenotype
04/30/2015
11
313485
Dcun1d4
0.168
R4031
G1
225
Y
5
73534637
D89G
A
G
missense
Het
probably damaging
0.971
0.079
04/30/2015
12
313477
Disp2
0.856
R4031
G1
225
Y
2
118791880
I1031T
T
C
missense
Het
probably benign
0.272
0.090
phenotype
04/30/2015
13
313508
Elf1
0.424
R4031
G1
225
N
14
79569283
K161Q
A
C
missense
Het
probably damaging
1.000
phenotype
04/30/2015
14
313511
Fndc1
0.082
R4031
G1
115
Y
17
7769752
Y1159*
A
T
nonsense
Het
probably null
0.971
04/30/2015
15
313517
Hspa12a
0.171
R4031
G1
195
Y
19
58800857
N449S
T
C
missense
Het
probably benign
0.165
0.140
04/30/2015
16
313489
Hyal4
0.000
R4031
G1
225
Y
6
24756224
E147G
A
G
missense
Het
probably damaging
1.000
0.775
phenotype
04/30/2015
17
313496
Hydin
0.695
R4031
G1
225
Y
8
110610047
I5152T
T
C
missense
Het
probably benign
0.297
0.089
phenotype
04/30/2015
18
475300
Ighv9-1
R4031
G1
225
N
12
114094224
A19T
C
T
missense
Het
probably benign
0.014
04/14/2017
19
313471
Kcnt1
0.278
R4031
G1
219
Y
2
25916048
S1216R
T
G
missense
Het
possibly damaging
0.775
0.179
phenotype
04/30/2015
20
313518
Kdm5d
0.071
R4031
G1
222
Y
Y
916910
V435E
T
A
missense
Het
probably damaging
1.000
0.647
phenotype
04/30/2015
21
313468
Klhl30
0.000
R4031
G1
225
Y
1
91361157
R546H
G
A
missense
Het
probably benign
0.009
0.088
04/30/2015
22
313472
Lrp1b
0.000
R4031
G1
225
Y
2
40702848
G3753D
C
T
missense
Het
probably benign
0.002
0.072
phenotype
04/30/2015
23
313515
Ltbp3
0.312
R4031
G1
225
Y
19
5754022
R854Q
G
A
missense
Het
probably benign
0.023
0.073
phenotype
04/30/2015
24
313483
Macf1
1.000
R4031
G1
225
Y
4
123381312
L6303P
A
G
missense
Het
probably damaging
1.000
0.924
phenotype
04/30/2015
25
313506
Mblac2
0.055
R4031
G1
225
Y
13
81750089
S195P
T
C
missense
Het
possibly damaging
0.593
0.155
04/30/2015
26
368239
Mindy3
0.162
R4031
G1
22
Y
2
12401083
A
C
splice site
Het
probably null
0.976
phenotype
01/08/2016
27
313475
Neurod1
0.941
R4031
G1
225
Y
2
79454026
D338N
C
T
missense
Het
probably benign
0.196
0.314
phenotype
04/30/2015
28
313482
Polr1e
1.000
R4031
G1
225
Y
4
45018685
E5V
A
T
missense
Het
probably benign
0.016
0.090
04/30/2015
29
313486
Polr2b
0.971
R4031
G1
225
Y
5
77348405
R1141H
G
A
missense
Het
possibly damaging
0.878
0.266
phenotype
04/30/2015
30
313507
Ppp2r2a
1.000
R4031
G1
225
Y
14
67028976
S79G
T
C
missense
Het
probably damaging
1.000
0.718
phenotype
04/30/2015
31
313510
Psmd2
0.966
R4031
G1
225
Y
16
20663205
G896D
G
A
missense
Het
probably damaging
0.976
0.908
phenotype
04/30/2015
32
313481
Rap1gds1
0.627
R4031
G1
225
Y
3
139050592
T
C
splice site
Het
probably benign
phenotype
04/30/2015
33
313488
Rsph10b
0.055
R4031
G1
225
Y
5
143985668
A
G
splice site
Het
probably null
0.976
04/30/2015
34
313502
Slc26a10
0.000
R4031
G1
225
Y
10
127178002
V297A
A
G
missense
Het
possibly damaging
0.573
0.201
04/30/2015
35
313484
Slc26a5
0.000
R4031
G1
225
Y
5
21847191
K47E
T
C
missense
Het
probably damaging
0.998
0.092
phenotype
04/30/2015
36
313509
Slurp1
0.000
R4031
G1
225
Y
15
74727487
E58G
T
C
missense
Het
probably damaging
1.000
0.239
phenotype
04/30/2015
37
313480
Spo11
0.000
R4031
G1
225
Y
2
172986832
T
A
splice site
Het
probably benign
phenotype
04/30/2015
38
313478
Tm9sf4
0.000
R4031
G1
222
Y
2
153198344
T
C
splice site
Het
probably benign
phenotype
04/30/2015
39
313500
Trak1
0.287
R4031
G1
222
Y
9
121451670
I272T
T
C
missense
Het
probably damaging
1.000
0.880
phenotype
04/30/2015
40
313514
Tshz1
1.000
R4031
G1
225
Y
18
84014829
K485E
T
C
missense
Het
possibly damaging
0.738
0.061
phenotype
04/30/2015
41
313474
Ttn
1.000
R4031
G1
225
Y
2
76754824
I22042F
T
A
missense
Het
probably damaging
0.996
0.121
phenotype
04/30/2015
42
313505
Unc79
1.000
R4031
G1
225
Y
12
103072759
S671T
T
A
missense
Het
possibly damaging
0.462
0.069
phenotype
04/30/2015
43
313504
Usp43
0.000
R4031
G1
225
Y
11
67913833
A186D
G
T
missense
Het
probably damaging
1.000
0.845
04/30/2015
44
313512
Vmn2r107
0.114
R4031
G1
225
Y
17
20375221
V679I
G
A
missense
Het
probably benign
0.003
0.090
04/30/2015
45
313492
Vsig10l
0.268
R4031
G1
199
Y
7
43465374
A333V
C
T
missense
Het
probably damaging
0.998
0.220
04/30/2015
46
313493
Vwa3a
0.000
R4031
G1
164
Y
7
120768232
G
A
critical splice donor site
1 bp
Het
probably null
0.948
04/30/2015
47
475298
Wdr49
0.071
R4031
G1
225
N
3
75323665
L563F
C
A
missense
Het
probably benign
0.047
phenotype
04/14/2017
48
313490
Wnk1
1.000
R4031
G1
225
Y
6
119951068
T1141A
T
C
missense
Het
probably damaging
0.997
0.361
phenotype
04/30/2015
49
313513
Zfp236
1.000
R4031
G1
136
Y
18
82624465
E1052V
T
A
missense
Het
probably damaging
0.995
0.066
04/30/2015
50
313497
Zfp317
0.077
R4031
G1
225
Y
9
19646712
H163L
A
T
missense
Het
possibly damaging
0.533
0.179
04/30/2015
51
313491
Zfp975
0.059
R4031
G1
225
Y
7
42662953
Q79*
G
A
nonsense
Het
probably null
0.976
04/30/2015
[records 1 to 51 of 51]