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Incidental Mutations
54
incidental mutations are currently displayed, and affect
54
genes.
9
are Possibly Damaging.
19
are Probably Damaging.
17
are Probably Benign.
9
are Probably Null.
2
create premature stop codons.
3
are critical splice junction mutations.
Mutations in Coding Regions/Splice Sites Identified by Next-Gen Sequencing
[records 1 to 54 of 54]
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
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
221462
Aadacl3
0.054
R2033
G1
225
Y
4
144456383
T172A
T
C
missense
Het
probably benign
0.003
0.090
08/25/2014
2
221542
Atp6v1c1
1.000
R2033
G1
225
Y
15
38673966
T
C
critical splice donor site
2 bp
Het
probably null
0.950
phenotype
08/25/2014
3
221517
Bpifc
0.093
R2033
G1
157
Y
10
86000632
T3I
G
A
missense
Het
possibly damaging
0.882
0.204
08/25/2014
4
221504
Car12
0.000
R2033
G1
225
Y
9
66717558
A
G
critical splice acceptor site
Het
probably null
0.948
phenotype
08/25/2014
5
221508
Ccrl2
0.000
R2033
G1
225
Y
9
111055870
F187L
A
G
missense
Het
possibly damaging
0.955
0.166
phenotype
08/25/2014
6
221452
Cep250
0.000
R2033
G1
225
Y
2
155970892
R544H
G
A
missense
Het
probably damaging
0.988
0.067
phenotype
08/25/2014
7
221436
Col4a3
0.000
R2033
G1
225
Y
1
82718011
T
G
intron
Het
probably benign
phenotype
08/25/2014
8
221492
Cyb5r2
0.000
R2033
G1
225
Y
7
107756907
T
C
splice site
4 bp
Het
probably null
0.976
phenotype
08/25/2014
9
221545
Elfn2
0.057
R2033
G1
125
Y
15
78671896
V817A
A
G
missense
Het
probably damaging
0.998
0.449
08/25/2014
10
221472
Eln
1.000
R2033
G1
225
Y
5
134710106
C
T
critical splice donor site
1 bp
Het
probably null
0.949
phenotype
08/25/2014
11
221531
Eml5
0.359
R2033
G1
225
N
12
98791386
E1896G
T
C
missense
Het
possibly damaging
0.714
08/25/2014
12
221438
G530012D18Rik
0.158
R2033
G1
132
Y
1
85577154
CACAGA
CA
frame shift
Het
probably null
08/25/2014
13
221464
Galnt11
0.169
R2033
G1
225
Y
5
25247538
T16I
C
T
missense
Het
probably damaging
0.999
0.524
08/25/2014
14
221476
Gars
1.000
R2033
G1
225
Y
6
55077723
H672Y
C
T
missense
Het
probably benign
0.017
0.123
phenotype
08/25/2014
15
221442
Gpr155
0.000
R2033
G1
225
Y
2
73348182
H726L
T
A
missense
Het
probably benign
0.176
0.086
08/25/2014
16
221430
Inpp1
0.000
R2033
G1
225
Y
1
52790173
N229I
T
A
missense
Het
possibly damaging
0.712
0.470
phenotype
08/25/2014
17
221484
Isg20
0.000
R2033
G1
186
Y
7
78916533
I77L
A
C
missense
Het
probably damaging
0.977
0.281
08/25/2014
18
221466
Kit
0.960
R2033
G1
225
Y
5
75637317
D422H
G
C
missense
Het
possibly damaging
0.882
0.175
phenotype
08/25/2014
19
221496
Lonp2
0.246
R2033
G1
225
Y
8
86708942
E602G
A
G
missense
Het
possibly damaging
0.775
0.104
phenotype
08/25/2014
20
221522
Mink1
0.000
R2033
G1
225
Y
11
70612508
V1143A
T
C
missense
Het
probably damaging
0.999
0.692
phenotype
08/25/2014
21
221538
Myh6
1.000
R2033
G1
225
Y
14
54963645
L120R
A
C
missense
Het
probably benign
0.004
0.625
phenotype
08/25/2014
22
221526
Myo18a
1.000
R2033
G1
225
Y
11
77843099
T
A
splice site
Het
probably null
0.976
phenotype
08/25/2014
23
221440
Nphs2
0.127
R2033
G1
225
Y
1
156323738
V249A
T
C
missense
Het
probably damaging
0.999
0.169
phenotype
08/25/2014
24
221500
Npsr1
0.061
R2033
G1
225
Y
9
24313352
K342E
A
G
missense
Het
probably benign
0.000
0.090
phenotype
08/25/2014
25
221549
Nrros
0.000
R2033
G1
225
Y
16
32144157
W311*
C
T
nonsense
Het
probably null
0.976
phenotype
08/25/2014
26
221540
Nudt18
0.178
R2033
G1
225
Y
14
70579616
G162V
G
T
missense
Het
possibly damaging
0.687
0.125
phenotype
08/25/2014
27
221468
Odam
0.096
R2033
G1
225
Y
5
87892419
D248G
A
G
missense
Het
probably benign
0.000
0.090
08/25/2014
28
221444
Olfr1224-ps1
0.062
R2033
G1
225
Y
2
89157154
V7A
A
G
missense
Het
probably damaging
0.957
0.458
08/25/2014
29
221502
Olfr147
0.063
R2033
G1
225
Y
9
38403373
M166I
G
T
missense
Het
probably damaging
0.993
0.555
phenotype
08/25/2014
30
221523
Olfr390
0.116
R2033
G1
225
Y
11
73787438
S167P
T
C
missense
Het
probably benign
0.153
0.090
phenotype
08/25/2014
31
221486
Olfr557
0.093
R2033
G1
225
Y
7
102699162
E308G
A
G
missense
Het
probably benign
0.014
0.228
phenotype
08/25/2014
32
221488
Olfr572
0.087
R2033
G1
225
Y
7
102928408
V260A
T
C
missense
Het
probably benign
0.001
0.090
phenotype
08/25/2014
33
221458
Pde4b
0.242
R2033
G1
225
Y
4
102605295
D723Y
G
T
missense
Het
probably benign
0.429
0.134
phenotype
08/25/2014
34
221480
Pdzrn3
0.794
R2033
G1
225
Y
6
101150954
E917G
T
C
missense
Het
probably damaging
0.999
0.104
phenotype
08/25/2014
35
221450
Ppip5k1
0.443
R2033
G1
225
Y
2
121337627
R715H
C
T
missense
Het
probably damaging
1.000
0.889
phenotype
08/25/2014
36
221548
Prkdc
0.947
R2033
G1
225
Y
16
15687352
T
A
splice site
Het
probably benign
0.090
phenotype
08/25/2014
37
221544
Ptp4a3
0.110
R2033
G1
225
Y
15
73753769
Y21C
A
G
missense
Het
probably damaging
0.998
0.859
phenotype
08/25/2014
38
221513
Ptprk
0.000
R2033
G1
225
Y
10
28592767
C
A
unclassified
Het
probably benign
phenotype
08/25/2014
39
221536
Rfesd
0.078
R2033
G1
225
Y
13
76002872
C
A
splice site
3900 bp
Het
probably null
0.743
08/25/2014
40
221454
Rtel1
1.000
R2033
G1
225
Y
2
181351863
K592*
A
T
nonsense
Het
probably null
0.976
phenotype
08/25/2014
41
221498
Siah1a
0.944
R2033
G1
225
Y
8
86725270
K195N
T
A
missense
Het
probably damaging
1.000
0.865
phenotype
08/25/2014
42
221494
Slc5a5
0.000
R2033
G1
225
Y
8
70888587
D369E
G
T
missense
Het
probably damaging
0.994
0.842
phenotype
08/25/2014
43
221478
Slc6a6
0.000
R2033
G1
225
Y
6
91724910
I100F
A
T
missense
Het
probably benign
0.124
0.302
phenotype
08/25/2014
44
221519
Smtn
0.438
R2033
G1
221
Y
11
3517781
I913V
T
C
missense
Het
probably benign
0.429
0.081
phenotype
08/25/2014
45
221432
Stk17b
0.136
R2033
G1
225
Y
1
53761076
S248P
A
G
missense
Het
probably damaging
1.000
0.334
phenotype
08/25/2014
46
221474
Sun1
0.000
R2033
G1
225
Y
5
139225438
H149Y
C
T
missense
Het
probably damaging
1.000
0.523
phenotype
08/25/2014
47
221511
Taar5
0.072
R2033
G1
206
Y
10
23971094
I130T
T
C
missense
Het
possibly damaging
0.843
0.536
phenotype
08/25/2014
48
221470
Tmem132b
0.074
R2033
G1
225
Y
5
125749289
V448F
G
T
missense
Het
probably damaging
0.983
0.240
08/25/2014
49
221527
Tmem94
0.254
R2033
G1
225
Y
11
115794328
N888K
C
A
missense
Het
possibly damaging
0.651
0.179
08/25/2014
50
221506
Trpc1
0.151
R2033
G1
225
Y
9
95706843
N742S
T
C
missense
Het
probably damaging
0.987
0.106
phenotype
08/25/2014
51
221448
Ttbk2
1.000
R2033
G1
225
Y
2
120806849
T112A
T
C
missense
Het
probably damaging
0.980
0.124
phenotype
08/25/2014
52
221534
Tubb2a
0.000
R2033
G1
225
Y
13
34075456
L117Q
A
T
missense
Het
probably damaging
0.999
0.789
phenotype
08/25/2014
53
221482
Vmn1r60
0.055
R2033
G1
225
Y
7
5544820
M94L
T
A
missense
Het
probably benign
0.000
0.090
08/25/2014
54
221515
Vmn2r83
0.079
R2033
G1
225
Y
10
79491819
T754A
A
G
missense
Het
probably benign
0.032
0.090
08/25/2014
[records 1 to 54 of 54]