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Incidental Mutations
115
incidental mutations are currently displayed, and affect
114
genes.
18
are Possibly Damaging.
47
are Probably Damaging.
34
are Probably Benign.
15
are Probably Null.
9
create premature stop codons.
2
are critical splice junction mutations.
Mutations in Coding Regions/Splice Sites Identified by Next-Gen Sequencing
[records 1 to 100 of 115]
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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
190500
4930503L19Rik
0.092
R1710
G1
225
Y
18
70468063
S249R
A
T
missense
Het
possibly damaging
0.827
0.179
05/14/2014
2
190392
9130409I23Rik
0.121
R1710
G1
188
Y
1
181051319
M1V
A
G
start codon destroyed
Het
probably null
0.981
0.938
05/14/2014
3
190468
Acadvl
0.438
R1710
G1
225
N
11
70010355
I638F
T
A
missense
Het
probably damaging
0.998
phenotype
05/14/2014
4
190409
Acnat2
0.063
R1710
G1
225
Y
4
49380587
T264S
T
A
missense
Het
probably benign
0.156
0.090
05/14/2014
5
190446
Acrv1
0.014
R1710
G1
225
Y
9
36694255
Q33*
C
T
nonsense
Het
probably null
0.971
phenotype
05/14/2014
6
190400
Actrt3
0.000
R1710
G1
213
Y
3
30599752
N33I
T
A
missense
Het
probably damaging
0.998
0.437
05/14/2014
7
190391
Alyref2
0.803
R1710
G1
201
Y
1
171503600
T
C
utr 5 prime
Het
probably benign
05/14/2014
8
190408
Ank2
1.000
R1710
G1
225
Y
3
126933060
E3712*
C
A
nonsense
Het
probably null
0.965
phenotype
05/14/2014
9
190387
Ano7
0.000
R1710
G1
225
Y
1
93385624
H161Q
C
A
missense
Het
probably benign
0.002
0.090
phenotype
05/14/2014
10
190442
Arhgap10
0.109
R1710
G1
225
Y
8
77358587
E451*
C
A
nonsense
Het
probably null
0.976
phenotype
05/14/2014
11
190407
Arhgap29
1.000
R1710
G1
225
Y
3
122008080
Y748N
T
A
missense
Het
probably damaging
1.000
0.953
phenotype
05/14/2014
12
190459
Arhgap45
0.000
R1710
G1
225
Y
10
80018098
Q149*
C
T
nonsense
Het
probably null
0.976
05/14/2014
13
190473
Asap2
0.107
R1710
G1
225
Y
12
21224392
H371Y
C
T
missense
Het
probably damaging
0.998
0.124
phenotype
05/14/2014
14
190428
Atp6v1b1
0.000
R1710
G1
181
Y
6
83758390
I480T
T
C
missense
Het
probably benign
0.000
0.079
phenotype
05/14/2014
15
190389
BC034090
0.062
R1710
G1
225
Y
1
155225864
D218G
T
C
missense
Het
possibly damaging
0.819
0.128
05/14/2014
16
190419
Brdt
0.000
R1710
G1
225
Y
5
107343584
D74V
A
T
missense
Het
probably damaging
1.000
0.909
phenotype
05/14/2014
17
190494
C4b
0.000
R1710
G1
225
Y
17
34743664
A
G
splice site
Het
probably benign
phenotype
05/14/2014
18
190425
Card11
0.000
R1710
G1
225
Y
5
140902905
K233*
T
A
nonsense
Het
probably null
0.975
phenotype
05/14/2014
19
190385
Catip
0.000
R1710
G1
225
Y
1
74362770
F35V
T
G
missense
Het
possibly damaging
0.928
0.097
05/14/2014
20
190454
Ccdc13
0.107
R1710
G1
225
Y
9
121819581
G247R
C
T
missense
Het
probably damaging
1.000
0.424
05/14/2014
21
190489
Cep97
1.000
R1710
G1
225
Y
16
55915022
D471V
T
A
missense
Het
probably damaging
0.994
0.135
05/14/2014
22
190505
Col17a1
0.000
R1710
G1
225
Y
19
47670931
L403Q
A
T
missense
Het
probably damaging
0.999
0.072
phenotype
05/14/2014
23
190429
Crbn
0.532
R1710
G1
225
Y
6
106790945
S194P
A
G
missense
Het
possibly damaging
0.905
0.060
phenotype
05/14/2014
24
190472
Dhx58
0.209
R1710
G1
225
Y
11
100703574
H97L
T
A
missense
Het
probably benign
0.197
0.164
phenotype
05/14/2014
25
190493
Dnah8
0.407
R1710
G1
225
Y
17
30854940
I4528T
T
C
missense
Het
probably damaging
1.000
0.415
phenotype
05/14/2014
26
190406
Dpyd
0.000
R1710
G1
225
Y
3
118610443
A
G
critical splice acceptor site
Het
probably null
0.950
phenotype
05/14/2014
27
190504
Entpd1
0.000
R1710
G1
225
Y
19
40726236
Q263L
A
T
missense
Het
probably benign
0.005
0.094
phenotype
05/14/2014
28
190452
Esyt3
0.000
R1710
G1
222
Y
9
99336191
I130M
T
C
missense
Het
probably benign
0.000
0.090
phenotype
05/14/2014
29
190474
Etv1
0.502
R1710
G1
225
Y
12
38852262
F264S
T
C
missense
Het
probably benign
0.184
0.103
phenotype
05/14/2014
30
190503
Fam189a2
0.077
R1710
G1
225
Y
19
23979695
I317N
A
T
missense
Het
probably damaging
1.000
0.100
05/14/2014
31
190462
Fam196b
0.085
R1710
G1
225
N
11
34404263
T
A
splice site
Het
probably null
05/14/2014
32
190506
Fam45a
0.069
R1710
G1
225
Y
19
60817583
Y102C
A
G
missense
Het
probably damaging
1.000
0.624
05/14/2014
33
190440
Fat1
1.000
R1710
G1
225
Y
8
45010482
S1354P
T
C
missense
Het
probably benign
0.003
0.064
phenotype
05/14/2014
34
190401
Fat4
1.000
R1710
G1
225
Y
3
38951155
T1901N
C
A
missense
Het
probably damaging
1.000
0.238
phenotype
05/14/2014
35
190453
Fbxw13
0.057
R1710
G1
225
Y
9
109181518
V351I
C
T
missense
Het
probably damaging
0.995
0.647
05/14/2014
36
190390
Fmo3
0.000
R1710
G1
225
Y
1
162967787
F160L
A
G
missense
Het
possibly damaging
0.594
0.650
phenotype
05/14/2014
37
190410
Fyb2
0.063
R1710
G1
225
Y
4
105003916
D592E
T
A
missense
Het
probably damaging
0.997
0.109
05/14/2014
38
190411
Gjb4
0.000
R1710
G1
225
Y
4
127351870
M93V
T
C
missense
Het
possibly damaging
0.622
0.242
phenotype
05/14/2014
39
190483
Gm5089
0.164
R1710
G1
225
Y
14
122436154
G52*
C
A
nonsense
Het
probably null
0.976
05/14/2014
40
190479
Gm6401
0.160
R1710
G1
225
Y
14
41966883
N76K
G
T
missense
Het
probably benign
0.035
0.090
05/14/2014
41
190433
Gm6871
0.104
R1710
G1
225
Y
7
41546477
S279P
A
G
missense
Het
probably damaging
0.998
0.657
05/14/2014
42
190423
Gtf2ird2
0.082
R1710
G1
225
Y
5
134211240
V301G
T
G
missense
Het
probably benign
0.263
0.091
05/14/2014
43
190507
H2bfm
0.174
R1710
G1
222
Y
X
136927467
D35A
A
C
missense
Het
unknown
0.087
phenotype
05/14/2014
44
190417
Hfm1
0.100
R1710
G1
225
Y
5
106880514
F817L
A
G
missense
Het
probably damaging
1.000
0.356
phenotype
05/14/2014
45
190418
Hfm1
0.100
R1710
G1
225
Y
5
106896003
E589G
T
C
missense
Het
probably damaging
0.960
0.113
phenotype
05/14/2014
46
190455
Hivep2
0.892
R1710
G1
225
Y
10
14129505
K616*
A
T
nonsense
Het
probably null
0.970
phenotype
05/14/2014
47
190388
Hmcn1
0.000
R1710
G1
225
Y
1
150675984
I2623N
A
T
missense
Het
probably damaging
0.999
0.377
phenotype
05/14/2014
48
190426
Igf2bp3
0.000
R1710
G1
225
Y
6
49105631
A339E
G
T
missense
Het
probably damaging
1.000
0.647
phenotype
05/14/2014
49
190477
Irx4
0.799
R1710
G1
225
Y
13
73267638
I182T
T
C
missense
Het
possibly damaging
0.904
0.462
phenotype
05/14/2014
50
190497
Jcad
0.000
R1710
G1
225
Y
18
4674511
S758P
T
C
missense
Het
probably damaging
1.000
0.132
05/14/2014
51
190444
Klhdc4
0.109
R1710
G1
225
Y
8
121799487
Y304*
A
T
nonsense
Het
probably null
0.976
05/14/2014
52
190496
Lama1
1.000
R1710
G1
225
Y
17
67753791
I705V
A
G
missense
Het
probably benign
0.001
0.232
phenotype
05/14/2014
53
190396
Mbd5
1.000
R1710
G1
225
Y
2
49257032
N418S
A
G
missense
Het
probably benign
0.102
0.059
phenotype
05/14/2014
54
190439
Mmp21
0.073
R1710
G1
225
Y
7
133677285
V279I
C
T
missense
Het
probably damaging
1.000
0.647
phenotype
05/14/2014
55
190508
Morc4
0.088
R1710
G1
222
Y
X
139854530
C272W
A
C
missense
Het
probably damaging
0.999
0.415
phenotype
05/14/2014
56
190470
Mrm1
0.127
R1710
G1
225
Y
11
84818692
C180S
A
T
missense
Het
probably damaging
0.999
0.346
05/14/2014
57
190467
Ncor1
1.000
R1710
G1
225
Y
11
62423005
D103G
T
C
missense
Het
probably damaging
0.999
0.113
phenotype
05/14/2014
58
190443
Ndrg4
0.000
R1710
G1
136
N
8
95710686
D251G
A
G
missense
Het
probably damaging
0.998
phenotype
05/14/2014
59
190398
Ndufaf5
0.573
R1710
G1
225
Y
2
140193602
V246A
T
C
missense
Het
possibly damaging
0.922
0.194
phenotype
05/14/2014
60
190416
Noa1
1.000
R1710
G1
107
Y
5
77309725
E111G
T
C
missense
Het
possibly damaging
0.491
0.107
phenotype
05/14/2014
61
190427
Nod1
0.000
R1710
G1
225
Y
6
54944059
V425F
C
A
missense
Het
probably damaging
0.977
0.292
phenotype
05/14/2014
62
190421
Nos1
0.000
R1710
G1
225
Y
5
117895919
I369F
A
T
missense
Het
probably damaging
0.995
0.157
phenotype
05/14/2014
63
190424
Nsun5
0.000
R1710
G1
225
Y
5
135371316
H98Y
C
T
missense
Het
probably damaging
0.996
0.214
phenotype
05/14/2014
64
190397
Olfr1013
0.072
R1710
G1
225
Y
2
85769855
T18I
C
T
missense
Het
probably benign
0.322
0.218
phenotype
05/14/2014
65
190490
Olfr172
0.057
R1710
G1
225
Y
16
58761141
F12L
A
G
missense
Het
probably benign
0.019
0.193
phenotype
05/14/2014
66
190434
Olfr292
0.071
R1710
G1
225
Y
7
86695110
R218H
G
A
missense
Het
probably benign
0.002
0.090
phenotype
05/14/2014
67
190480
Olfr726
0.067
R1710
G1
225
Y
14
50084370
V104L
C
G
missense
Het
probably benign
0.010
0.090
phenotype
05/14/2014
68
190447
Olfr933
0.064
R1710
G1
225
Y
9
38975906
I77V
A
G
missense
Het
probably damaging
0.974
0.266
phenotype
05/14/2014
69
190448
Olfr945
0.057
R1710
G1
225
Y
9
39258571
I37V
T
C
missense
Het
probably benign
0.068
0.100
phenotype
05/14/2014
70
190393
Optn
0.225
R1710
G1
225
Y
2
5053130
T76I
G
A
missense
Het
possibly damaging
0.896
0.074
phenotype
05/14/2014
71
190431
Oscar
0.000
R1710
G1
225
Y
7
3611856
W22*
C
T
nonsense
Het
probably null
0.975
phenotype
05/14/2014
72
190405
Palmd
0.071
R1710
G1
225
Y
3
116923657
Y397F
T
A
missense
Het
probably damaging
1.000
0.269
05/14/2014
73
190438
Plk1
1.000
R1710
G1
225
Y
7
122168898
D447G
A
G
missense
Het
probably damaging
0.995
0.765
phenotype
05/14/2014
74
190451
Plscr5
0.101
R1710
G1
225
Y
9
92205528
N183K
T
A
missense
Het
probably damaging
1.000
0.310
05/14/2014
75
190478
Polk
0.150
R1710
G1
225
Y
13
96489204
D364A
T
G
missense
Het
probably damaging
1.000
0.650
phenotype
05/14/2014
76
190482
Polr3d
0.926
R1710
G1
221
Y
14
70443010
T36A
T
C
missense
Het
probably benign
0.032
0.068
phenotype
05/14/2014
77
190495
Ppp1r10
1.000
R1710
G1
225
Y
17
35926536
R199S
A
T
missense
Het
probably damaging
0.960
0.647
phenotype
05/14/2014
78
190413
Prkcz
0.000
R1710
G1
225
Y
4
155262512
D388N
C
T
missense
Het
probably damaging
0.999
0.175
phenotype
05/14/2014
79
190395
Prrc2b
1.000
R1710
G1
225
Y
2
32212222
L769P
T
C
missense
Het
probably damaging
0.991
0.216
05/14/2014
80
190432
Psg26
0.049
R1710
G1
225
Y
7
18480041
V232A
A
G
missense
Het
probably damaging
0.990
0.647
05/14/2014
81
190384
Pth2r
0.000
R1710
G1
225
Y
1
65336838
V85A
T
C
missense
Het
possibly damaging
0.476
0.179
phenotype
05/14/2014
82
190449
Rbpms2
0.000
R1710
G1
225
Y
9
65659212
T
C
splice site
Het
probably benign
phenotype
05/14/2014
83
190457
Reps1
0.496
R1710
G1
225
Y
10
18118950
D514V
A
T
missense
Het
possibly damaging
0.750
0.092
phenotype
05/14/2014
84
190498
Riok3
0.255
R1710
G1
225
Y
18
12142961
R238L
G
T
missense
Het
probably benign
0.239
0.738
phenotype
05/14/2014
85
190485
Rnf19a
0.622
R1710
G1
225
Y
15
36244207
Q569R
T
C
missense
Het
probably damaging
0.998
0.091
phenotype
05/14/2014
86
190502
Rorb
0.000
R1710
G1
225
Y
19
18960501
T267I
G
A
missense
Het
probably damaging
1.000
0.211
phenotype
05/14/2014
87
190486
Rrm2b
0.550
R1710
G1
225
Y
15
37929096
M70K
A
T
missense
Het
probably damaging
1.000
0.968
phenotype
05/14/2014
88
190435
Rsf1
1.000
R1710
G1
225
Y
7
97662349
E762V
A
T
missense
Het
possibly damaging
0.505
0.179
phenotype
05/14/2014
89
190404
S100a2
0.160
R1710
G1
225
Y
3
90591392
V67I
G
A
missense
Het
probably benign
0.309
0.090
05/14/2014
90
190464
Skp1a
0.535
R1710
G1
225
Y
11
52242615
D42E
T
A
missense
Het
probably benign
0.003
0.072
phenotype
05/14/2014
91
190465
Slc22a4
0.351
R1710
G1
225
Y
11
54027975
M1K
A
T
start codon destroyed
Het
probably null
0.993
0.962
phenotype
05/14/2014
92
190415
Slc2a9
0.057
R1710
G1
225
Y
5
38382044
Q371L
T
A
missense
Het
probably damaging
1.000
0.260
phenotype
05/14/2014
93
190499
Slc4a9
0.298
R1710
G1
225
Y
18
36532022
T475A
A
G
missense
Het
probably benign
0.000
0.090
phenotype
05/14/2014
94
190422
Slc8b1
0.000
R1710
G1
225
Y
5
120519652
N60S
A
G
missense
Het
probably damaging
1.000
0.199
phenotype
05/14/2014
95
190488
Slx4
1.000
R1710
G1
225
Y
16
3999158
D66E
A
C
missense
Het
probably benign
0.148
0.090
phenotype
05/14/2014
96
190471
Smg8
0.430
R1710
G1
225
Y
11
87086287
I156N
A
T
missense
Het
probably damaging
0.981
0.283
05/14/2014
97
190441
Snx25
1.000
R1710
G1
225
Y
8
46116207
C218S
A
T
missense
Het
possibly damaging
0.687
0.084
05/14/2014
98
190399
Sulf2
0.511
R1710
G1
225
Y
2
166079072
I784V
T
C
missense
Het
probably benign
0.000
0.090
phenotype
05/14/2014
99
261723
Tatdn2
1.000
R1710
G1
76
Y
6
113697927
R72L
G
T
missense
Het
possibly damaging
0.904
0.111
01/23/2015
100
190383
Tbc1d8
0.000
R1710
G1
225
Y
1
39406837
D91G
T
C
missense
Het
possibly damaging
0.888
0.148
05/14/2014
[records 1 to 100 of 115]
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