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Incidental Mutations
121
incidental mutations are currently displayed, and affect
121
genes.
17
are Possibly Damaging.
48
are Probably Damaging.
37
are Probably Benign.
19
are Probably Null.
9
create premature stop codons.
3
are critical splice junction mutations.
Mutations in Coding Regions/Splice Sites Identified by Next-Gen Sequencing
[records 1 to 100 of 121]
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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
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
209952
1700017B05Rik
0.193
R1903
G1
225
N
9
57258352 (GRCm38)
S246R
A
C
missense
Het
possibly damaging
0.694
2014-06-30
2
209968
Abca13
0.000
R1903
G1
225
N
11
9466411 (GRCm38)
R4058C
C
T
missense
Het
probably benign
0.125
phenotype
2014-06-30
3
209927
Acacb
0.000
R1903
G1
225
N
5
114165734 (GRCm38)
R73*
A
T
nonsense
Het
probably null
phenotype
2014-06-30
4
209916
Adam22
1.000
R1903
G1
225
N
5
8134525 (GRCm38)
C489Y
C
T
missense
Het
probably damaging
1.000
phenotype
2014-06-30
5
209918
Agap3
0.191
R1903
G1
225
N
5
24493013 (GRCm38)
K460I
A
T
missense
Het
probably damaging
1.000
2014-06-30
6
209908
Ak4
0.439
R1903
G1
225
N
4
101463636 (GRCm38)
I214T
T
C
missense
Het
possibly damaging
0.469
phenotype
2014-06-30
7
209936
Anpep
0.000
R1903
G1
225
N
7
79838256 (GRCm38)
E518K
C
T
missense
Het
probably benign
0.006
0.090
phenotype
2014-06-30
8
209971
Arrb2
0.000
R1903
G1
225
N
11
70437982 (GRCm38)
H221Q
T
A
missense
Het
probably damaging
1.000
phenotype
2014-06-30
9
209978
Atl1
0.454
R1903
G1
225
N
12
69959275 (GRCm38)
F452V
T
G
missense
Het
probably damaging
0.975
phenotype
2014-06-30
10
209901
Atp8b5
0.074
R1903
G1
225
N
4
43357063 (GRCm38)
T604A
A
G
missense
Het
probably damaging
0.982
2014-06-30
11
209924
BC005561
0.924
R1903
G1
225
N
5
104518330 (GRCm38)
S239R
T
A
missense
Het
probably benign
0.001
2014-06-30
12
209893
Bglap3
0.081
R1903
G1
225
N
3
88368761 (GRCm38)
I95V
T
C
missense
Het
probably benign
0.006
2014-06-30
13
209969
Ccdc88a
1.000
R1903
G1
225
N
11
29461788 (GRCm38)
M532I
G
T
missense
Het
probably benign
0.069
phenotype
2014-06-30
14
209891
Ccnl1
0.670
R1903
G1
225
N
3
65946911 (GRCm38)
S430P
A
G
missense
Het
possibly damaging
0.734
2014-06-30
15
209906
Cdk5rap2
0.565
R1903
G1
225
N
4
70403554 (GRCm38)
A
T
splice site
Het
probably null
phenotype
2014-06-30
16
209945
Cep126
0.000
R1903
G1
225
N
9
8120747 (GRCm38)
Y92N
A
T
missense
Het
possibly damaging
0.584
2014-06-30
17
209999
Cfap44
0.000
R1903
G1
225
N
16
44422374 (GRCm38)
T714P
A
C
missense
Het
probably benign
0.002
phenotype
2014-06-30
18
209923
Cnga1
0.292
R1903
G1
225
N
5
72616725 (GRCm38)
D90A
T
G
missense
Het
possibly damaging
0.942
phenotype
2014-06-30
19
209941
Cnot1
0.000
R1903
G1
225
N
8
95743121 (GRCm38)
I1369V
T
C
missense
Het
possibly damaging
0.504
phenotype
2014-06-30
20
209900
Coq3
0.940
R1903
G1
225
N
4
21910466 (GRCm38)
S314P
T
C
missense
Het
probably damaging
0.992
phenotype
2014-06-30
21
209974
Crhr1
0.067
R1903
G1
115
N
11
104169849 (GRCm38)
R151G
A
G
missense
Het
probably damaging
0.995
phenotype
2014-06-30
22
209912
Crybg2
0.840
R1903
G1
225
N
4
134078856 (GRCm38)
I930V
A
G
missense
Het
probably damaging
0.999
2014-06-30
23
209942
Ctcf
1.000
R1903
G1
225
N
8
105675988 (GRCm38)
T
A
splice site
Het
probably null
phenotype
2014-06-30
24
209994
Dct
0.000
R1903
G1
225
N
14
118034278 (GRCm38)
N380S
T
C
missense
Het
probably benign
0.001
phenotype
2014-06-30
25
210002
Decr2
0.000
R1903
G1
225
N
17
26087413 (GRCm38)
L83Q
A
T
missense
Het
probably damaging
0.986
2014-06-30
26
209920
Depdc5
1.000
R1903
G1
134
N
5
32910407 (GRCm38)
CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT
CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT
critical splice acceptor site
Het
probably benign
phenotype
2014-06-30
27
209977
Dgkb
0.169
R1903
G1
225
N
12
38166777 (GRCm38)
T
C
critical splice donor site
2 bp
Het
probably null
phenotype
2014-06-30
28
209991
Dnah1
0.000
R1903
G1
225
N
14
31319759 (GRCm38)
D85G
T
C
missense
Het
probably damaging
0.993
phenotype
2014-06-30
29
209874
Dnah7a
0.122
R1903
G1
225
N
1
53535478 (GRCm38)
D1709G
T
C
missense
Het
probably damaging
1.000
2014-06-30
30
209956
Dnajc13
0.940
R1903
G1
225
N
9
104228937 (GRCm38)
L346R
A
C
missense
Het
probably damaging
0.978
phenotype
2014-06-30
31
210005
Dsc1
0.091
R1903
G1
225
N
18
20095988 (GRCm38)
V415D
A
T
missense
Het
probably damaging
0.999
phenotype
2014-06-30
32
209887
Duox2
0.000
R1903
G1
225
N
2
122295351 (GRCm38)
I296F
T
A
missense
Het
probably damaging
0.999
phenotype
2014-06-30
33
209997
Ece2
0.000
R1903
G1
225
N
16
20645172 (GRCm38)
L890H
T
A
missense
Het
probably damaging
0.989
phenotype
2014-06-30
34
209947
Ecsit
1.000
R1903
G1
225
N
9
22076519 (GRCm38)
S75P
A
G
missense
Het
possibly damaging
0.739
phenotype
2014-06-30
35
209962
Enpp3
0.131
R1903
G1
225
N
10
24778789 (GRCm38)
C664R
A
G
missense
Het
probably damaging
1.000
phenotype
2014-06-30
36
209975
Evpl
0.000
R1903
G1
167
N
11
116227028 (GRCm38)
D778E
G
T
missense
Het
probably damaging
1.000
phenotype
2014-06-30
37
209911
Eya3
0.743
R1903
G1
225
N
4
132721352 (GRCm38)
T
A
splice site
3545 bp
Het
probably null
phenotype
2014-06-30
38
209889
Fam217b
0.000
R1903
G1
225
N
2
178420581 (GRCm38)
I113F
A
T
missense
Het
probably benign
0.321
2014-06-30
39
209995
Galnt6
0.179
R1903
G1
225
N
15
100716118 (GRCm38)
P101S
G
A
missense
Het
possibly damaging
0.787
phenotype
2014-06-30
40
209907
Gm11487
0.253
R1903
G1
188
N
4
73403438 (GRCm38)
Y120F
T
A
missense
Het
probably damaging
0.980
phenotype
2014-06-30
41
209990
Gm281
0.062
R1903
G1
225
N
14
13829657 (GRCm38)
S695N
C
T
missense
Het
possibly damaging
0.937
2014-06-30
42
210012
Gm379
0.171
R1903
G1
222
N
X
108664264 (GRCm38)
Q210*
G
A
nonsense
Het
probably null
2014-06-30
43
209921
Grk4
0.166
R1903
G1
174
N
5
34676187 (GRCm38)
A
T
splice site
3 bp
Het
probably null
phenotype
2014-06-30
44
209883
Gtf3c4
0.961
R1903
G1
221
N
2
28839956 (GRCm38)
V91A
A
G
missense
Het
probably benign
0.188
2014-06-30
45
209965
Hcfc2
0.222
R1903
G1
225
N
10
82702558 (GRCm38)
G143V
G
T
missense
Het
probably damaging
0.977
phenotype
2014-06-30
46
209979
Heatr4
0.074
R1903
G1
225
N
12
83958447 (GRCm38)
H710Q
A
C
missense
Het
probably damaging
1.000
2014-06-30
47
209950
Htr3a
0.000
R1903
G1
225
N
9
48906381 (GRCm38)
D97E
A
T
missense
Het
probably damaging
0.998
phenotype
2014-06-30
48
210006
Htr4
0.000
R1903
G1
225
N
18
62428122 (GRCm38)
F151L
T
G
missense
Het
probably benign
0.007
phenotype
2014-06-30
49
209913
Il22ra1
0.000
R1903
G1
225
N
4
135750908 (GRCm38)
Q430L
A
T
missense
Het
probably damaging
0.999
phenotype
2014-06-30
50
209903
Invs
0.685
R1903
G1
225
N
4
48402824 (GRCm38)
T
A
splice site
Het
probably null
phenotype
2014-06-30
51
209958
Ip6k1
0.431
R1903
G1
225
N
9
108040996 (GRCm38)
E77K
G
A
missense
Het
possibly damaging
0.889
0.141
phenotype
2014-06-30
52
209877
Irs1
0.603
R1903
G1
225
N
1
82289461 (GRCm38)
S345G
T
C
missense
Het
probably damaging
0.999
phenotype
2014-06-30
53
209909
Kdm4a
0.744
R1903
G1
225
N
4
118160399 (GRCm38)
V490A
A
G
missense
Het
probably benign
0.383
phenotype
2014-06-30
54
209983
Kif26a
1.000
R1903
G1
215
N
12
112175540 (GRCm38)
R743C
C
T
missense
Het
probably damaging
0.999
phenotype
2014-06-30
55
209880
Kif28
0.418
R1903
G1
225
N
1
179702523 (GRCm38)
V691A
A
G
missense
Het
possibly damaging
0.628
2014-06-30
56
209922
Klhl5
0.091
R1903
G1
225
N
5
65166987 (GRCm38)
L696Q
T
A
missense
Het
probably benign
0.372
2014-06-30
57
209937
Krtap5-1
0.101
R1903
G1
225
N
7
142296347 (GRCm38)
T
C
unclassified
Het
probably benign
2014-06-30
58
209963
Lama2
0.331
R1903
G1
225
N
10
27188399 (GRCm38)
D1195E
A
C
missense
Het
probably damaging
1.000
phenotype
2014-06-30
59
209976
Lamb1
1.000
R1903
G1
225
N
12
31329210 (GRCm38)
L1722R
T
G
missense
Het
probably damaging
1.000
phenotype
2014-06-30
60
209959
Lrp11
0.084
R1903
G1
225
N
10
7623780 (GRCm38)
L245Q
T
A
missense
Het
probably damaging
1.000
2014-06-30
61
209980
Ltbp2
0.721
R1903
G1
142
N
12
84830105 (GRCm38)
E422G
T
C
missense
Het
probably benign
0.009
phenotype
2014-06-30
62
209940
Man2b1
0.000
R1903
G1
225
N
8
85086822 (GRCm38)
D214E
T
A
missense
Het
probably damaging
1.000
phenotype
2014-06-30
63
209928
Mlxipl
0.477
R1903
G1
225
N
5
135133568 (GRCm38)
D628V
A
T
missense
Het
possibly damaging
0.921
phenotype
2014-06-30
64
209926
Myo18b
1.000
R1903
G1
225
N
5
112692758 (GRCm38)
R2390C
G
A
missense
Het
probably damaging
0.999
phenotype
2014-06-30
65
209964
Mypn
0.376
R1903
G1
225
N
10
63123397 (GRCm38)
R1048S
T
A
missense
Het
probably benign
0.056
phenotype
2014-06-30
66
209917
Napepld
0.000
R1903
G1
225
N
5
21665272 (GRCm38)
S383P
A
G
missense
Het
probably damaging
0.970
phenotype
2014-06-30
67
209935
Napsa
0.155
R1903
G1
225
N
7
44581736 (GRCm38)
T130A
A
G
missense
Het
probably damaging
0.995
phenotype
2014-06-30
68
209973
Nbr1
0.000
R1903
G1
225
N
11
101575152 (GRCm38)
I716T
T
C
missense
Het
probably damaging
0.977
phenotype
2014-06-30
69
209896
Nexn
0.468
R1903
G1
225
N
3
152248181 (GRCm38)
M212K
A
T
missense
Het
probably damaging
0.993
phenotype
2014-06-30
70
209933
Nlrp9b
0.000
R1903
G1
225
N
7
20023257 (GRCm38)
S140T
T
A
missense
Het
probably benign
0.439
phenotype
2014-06-30
71
209949
Nxpe2
0.074
R1903
G1
225
N
9
48319606 (GRCm38)
T488A
T
C
missense
Het
probably benign
0.395
2014-06-30
72
209885
Olfr1051
0.057
R1903
G1
225
N
2
86275846 (GRCm38)
V214I
C
T
missense
Het
probably benign
0.005
phenotype
2014-06-30
73
210008
Olfr1420
0.113
R1903
G1
225
N
19
11896549 (GRCm38)
Y176F
A
T
missense
Het
probably benign
0.243
phenotype
2014-06-30
74
209993
Olfr1512
0.123
R1903
G1
225
N
14
52372717 (GRCm38)
Q112P
T
G
missense
Het
possibly damaging
0.809
phenotype
2014-06-30
75
210000
Olfr209
0.134
R1903
G1
225
N
16
59362163 (GRCm38)
D18E
A
T
missense
Het
probably benign
0.026
phenotype
2014-06-30
76
209946
Olfr834
0.619
R1903
G1
225
N
9
18988896 (GRCm38)
K303*
A
T
nonsense
Het
probably null
phenotype
2014-06-30
77
209938
Osbpl5
0.000
R1903
G1
225
N
7
143703181 (GRCm38)
D404G
T
C
missense
Het
possibly damaging
0.830
phenotype
2014-06-30
78
209967
Pan2
1.000
R1903
G1
225
N
10
128308368 (GRCm38)
L162R
T
G
missense
Het
probably damaging
0.980
phenotype
2014-06-30
79
209881
Parp1
0.865
R1903
G1
225
N
1
180588670 (GRCm38)
V545F
G
T
missense
Het
probably damaging
0.996
phenotype
2014-06-30
80
209890
Pcdh18
0.000
R1903
G1
225
N
3
49755447 (GRCm38)
V473A
A
G
missense
Het
probably benign
0.000
phenotype
2014-06-30
81
209919
Plb1
0.059
R1903
G1
225
N
5
32291238 (GRCm38)
N350I
A
T
missense
Het
probably damaging
1.000
phenotype
2014-06-30
82
209931
Polr1a
1.000
R1903
G1
225
N
6
71967914 (GRCm38)
K1318R
A
G
missense
Het
probably benign
0.020
phenotype
2014-06-30
83
210003
Ppp1r18
0.245
R1903
G1
225
N
17
35873846 (GRCm38)
P130S
C
T
missense
Het
probably damaging
0.983
phenotype
2014-06-30
84
209892
Prss48
0.060
R1903
G1
225
N
3
85998307 (GRCm38)
W86*
C
T
nonsense
Het
probably null
2014-06-30
85
209989
Rab3c
0.000
R1903
G1
198
N
13
110084210 (GRCm38)
I137N
A
T
missense
Het
probably damaging
1.000
phenotype
2014-06-30
86
209882
Rab3gap2
0.000
R1903
G1
225
N
1
185221902 (GRCm38)
R57P
G
C
missense
Het
probably benign
0.000
phenotype
2014-06-30
87
209957
Rad54l2
1.000
R1903
G1
225
N
9
106693717 (GRCm38)
A
C
splice site
Het
probably null
phenotype
2014-06-30
88
209888
Ralgapb
1.000
R1903
G1
225
N
2
158495563 (GRCm38)
N1147K
C
A
missense
Het
probably benign
0.044
2014-06-30
89
209954
Rfx7
0.925
R1903
G1
225
N
9
72616811 (GRCm38)
R428C
C
T
missense
Het
probably damaging
1.000
phenotype
2014-06-30
90
210001
Robo1
1.000
R1903
G1
225
N
16
72960204 (GRCm38)
Q351R
A
G
missense
Het
probably null
0.999
phenotype
2014-06-30
91
209992
Samd4
0.791
R1903
G1
180
N
14
47074128 (GRCm38)
F81S
T
C
missense
Het
probably damaging
1.000
phenotype
2014-06-30
92
209960
Shprh
0.000
R1903
G1
225
N
10
11183797 (GRCm38)
Y1097*
T
A
nonsense
Het
probably null
Pcna
. Neither homozygous truncation nor KO affect B cell somatic hypermutation or class switching. [provided by MGI curators] (source: MGI)">phenotype
2014-06-30
93
209948
Sik3
1.000
R1903
G1
225
N
9
46221089 (GRCm38)
H1276Q
C
G
missense
Het
probably benign
0.004
0.090
phenotype
2014-06-30
94
209981
Slc24a4
0.000
R1903
G1
225
N
12
102131617 (GRCm38)
D79E
T
A
missense
Het
probably benign
0.001
phenotype
2014-06-30
95
209899
Slc7a13
0.000
R1903
G1
225
N
4
19839254 (GRCm38)
I286F
A
T
missense
Het
probably benign
0.006
2014-06-30
96
210011
Smarca1
0.853
R1903
G1
222
N
X
47849963 (GRCm38)
Q723*
G
A
nonsense
Het
probably null
phenotype
2014-06-30
97
209986
Spata31d1b
0.064
R1903
G1
225
N
13
59718068 (GRCm38)
L1010P
T
C
missense
Het
probably damaging
0.989
2014-06-30
98
209932
Sult2a1
0.093
R1903
G1
225
N
7
13835975 (GRCm38)
S111G
T
C
missense
Het
possibly damaging
0.939
phenotype
2014-06-30
99
209982
Tecpr2
0.000
R1903
G1
225
N
12
110947912 (GRCm38)
T1219M
C
T
missense
Het
probably damaging
0.978
phenotype
2014-06-30
100
209902
Tesk1
0.223
R1903
G1
157
N
4
43446998 (GRCm38)
M462T
T
C
missense
Het
probably benign
0.001
phenotype
2014-06-30
[records 1 to 100 of 121]
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