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Incidental Mutations
65
incidental mutations are currently displayed, and affect
65
genes.
14
are Possibly Damaging.
20
are Probably Damaging.
20
are Probably Benign.
10
are Probably Null.
4
create premature stop codons.
2
are critical splice junction mutations.
Mutations in Coding Regions/Splice Sites Identified by Next-Gen Sequencing
[records 1 to 65 of 65]
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
480123
Acaca
1.000
R6027
G1
165.01
Y
11
84398177 (GRCm38)
V2299A
T
C
missense
Het
probably benign
0.000
0.058
phenotype
2017-06-26
2
480102
Acacb
0.000
R6027
G1
225.01
Y
5
114165600 (GRCm38)
D28G
A
G
missense
Het
probably benign
0.428
0.325
phenotype
2017-06-26
3
480129
Adamts6
0.881
R6027
G1
225.01
Y
13
104479535 (GRCm38)
G1035D
G
A
missense
Het
probably damaging
0.997
0.323
phenotype
2017-06-26
4
480114
Adamts7
0.070
R6027
G1
195.01
Y
9
90191025 (GRCm38)
Y755S
A
C
missense
Het
probably damaging
0.999
0.838
phenotype
2017-06-26
5
480140
Afg3l2
1.000
R6027
G1
225.01
Y
18
67421259 (GRCm38)
L458M
G
T
missense
Het
probably damaging
1.000
0.387
phenotype
2017-06-26
6
480098
Ank2
1.000
R6027
G1
225.01
Y
3
126997879 (GRCm38)
T763A
T
C
missense
Het
possibly damaging
0.916
0.709
phenotype
2017-06-26
7
480086
Armc9
0.678
R6027
G1
112.01
Y
1
86244667 (GRCm38)
L105F
G
C
missense
Het
probably damaging
1.000
0.647
2017-06-26
8
480141
Asah2
0.382
R6027
G1
225.01
Y
19
32044951 (GRCm38)
N228D
T
C
missense
Het
probably benign
0.006
0.090
phenotype
2017-06-26
9
480096
Ash1l
1.000
R6027
G1
225.01
Y
3
88985019 (GRCm38)
Y1402H
T
C
missense
Het
probably damaging
0.998
0.070
phenotype
2017-06-26
10
480090
Aspm
0.000
R6027
G1
225.01
Y
1
139463056 (GRCm38)
V693G
T
G
missense
Het
probably damaging
1.000
0.209
phenotype
2017-06-26
11
480124
Bptf
1.000
R6027
G1
225.01
Y
11
107074945 (GRCm38)
E1141G
T
C
missense
Het
probably damaging
1.000
0.118
phenotype
2017-06-26
12
480113
Col12a1
0.687
R6027
G1
225.01
Y
9
79656578 (GRCm38)
C
T
critical splice donor site
1 bp
Het
probably null
0.948
phenotype
2017-06-26
13
480100
Csmd2
0.219
R6027
G1
225.01
Y
4
128559946 (GRCm38)
D3475N
G
A
missense
Het
unknown
0.061
2017-06-26
14
482093
Dctn5
1.000
R6027
G1
225.01
Y
7
122133341 (GRCm38)
T
C
splice site
Het
probably benign
0.090
phenotype
2017-06-27
15
480132
Dhrs4
0.161
R6027
G1
225.01
Y
14
55486123 (GRCm38)
K18E
A
G
missense
Het
probably benign
0.003
0.090
phenotype
2017-06-26
16
501986
Eci2
0.119
R6027
G1
131.01
Y
13
34985947 (GRCm38)
A
T
splice site
1578 bp
Het
probably null
phenotype
2018-02-08
17
480135
Efcab6
0.000
R6027
G1
225.01
Y
15
83967721 (GRCm38)
F319L
A
G
missense
Het
probably benign
0.000
0.090
phenotype
2017-06-26
18
480116
Elane
0.067
R6027
G1
225.01
Y
10
79887018 (GRCm38)
H86L
A
T
missense
Het
probably damaging
0.998
0.943
phenotype
2017-06-26
19
480109
Endod1
0.062
R6027
G1
225.01
Y
9
14357597 (GRCm38)
Y197*
A
T
nonsense
Het
probably null
0.964
2017-06-26
20
480143
Eno4
0.066
R6027
G1
225.01
Y
19
58946830 (GRCm38)
D158G
A
G
missense
Het
probably damaging
1.000
0.427
phenotype
2017-06-26
21
480128
Fam217a
0.164
R6027
G1
225.01
Y
13
34910994 (GRCm38)
T170S
T
A
missense
Het
possibly damaging
0.766
0.179
2017-06-26
22
480117
Fbxo7
0.000
R6027
G1
225.01
Y
10
86048086 (GRCm38)
D517G
A
G
missense
Het
probably damaging
0.999
0.372
phenotype
2017-06-26
23
501985
Fkbp3
0.000
R6027
G1
57.01
Y
12
65073918 (GRCm38)
A2E
G
T
missense
Het
possibly damaging
0.945
0.071
phenotype
2018-02-08
24
501984
Gan
0.101
R6027
G1
50.02
Y
8
117158295 (GRCm38)
Y54C
A
G
missense
Het
probably damaging
1.000
0.453
phenotype
2018-02-08
25
480094
Gdap1l1
0.183
R6027
G1
89.01
Y
2
163451611 (GRCm38)
N194K
T
A
missense
Het
possibly damaging
0.567
0.179
phenotype
2017-06-26
26
480104
Gm15448
0.049
R6027
G1
225.01
Y
7
3824639 (GRCm38)
Y173C
T
C
missense
Het
possibly damaging
0.943
0.179
2017-06-26
27
480118
Gnptab
0.950
R6027
G1
225.01
Y
10
88433225 (GRCm38)
T597A
A
G
missense
Het
probably damaging
0.983
0.063
phenotype
2017-06-26
28
480091
Hmcn1
0.000
R6027
G1
225.01
Y
1
150802895 (GRCm38)
S492P
A
G
missense
Het
possibly damaging
0.791
0.122
phenotype
2017-06-26
29
480106
Hmox1
0.669
R6027
G1
225.01
Y
8
75096871 (GRCm38)
H56N
C
A
missense
Het
probably damaging
0.999
0.626
phenotype
2017-06-26
30
480138
Kank3
0.093
R6027
G1
225.01
Y
17
33818114 (GRCm38)
P131S
C
T
missense
Het
possibly damaging
0.712
0.120
2017-06-26
31
482091
Kif14
0.923
R6027
G1
225.01
Y
1
136483059 (GRCm38)
T
C
splice site
20 bp
Het
probably null
0.976
phenotype
2017-06-27
32
480088
Kif1a
0.905
R6027
G1
225.01
Y
1
93025643 (GRCm38)
M1274K
A
T
missense
Het
probably benign
0.329
0.422
phenotype
2017-06-26
33
480112
Kmt2a
1.000
R6027
G1
225.01
Y
9
44819290 (GRCm38)
A
T
unclassified
Het
probably benign
0.070
phenotype
2017-06-26
34
480083
Lypla1
0.000
R6027
G1
225.01
Y
1
4837076 (GRCm38)
T
C
critical splice donor site
2 bp
Het
probably null
0.975
phenotype
2017-06-26
35
480107
Man2b1
0.000
R6027
G1
225.01
Y
8
85096752 (GRCm38)
T905I
C
T
missense
Het
probably damaging
1.000
0.647
phenotype
2017-06-26
36
480108
Mmp15
0.000
R6027
G1
225.01
Y
8
95372176 (GRCm38)
H544N
C
A
missense
Het
probably benign
0.001
0.090
phenotype
2017-06-26
37
480131
Myh7
0.917
R6027
G1
225.01
Y
14
54970802 (GRCm38)
N1933K
A
T
missense
Het
probably benign
0.009
0.059
phenotype
2017-06-26
38
480097
Ndst4
0.095
R6027
G1
225.01
Y
3
125713376 (GRCm38)
A730S
G
T
missense
Het
probably benign
0.377
0.159
phenotype
2017-06-26
39
480087
Nmur1
0.000
R6027
G1
225.01
Y
1
86387331 (GRCm38)
Q238*
G
A
nonsense
Het
probably null
0.975
phenotype
2017-06-26
40
480101
Nwd2
0.120
R6027
G1
225.01
Y
5
63808220 (GRCm38)
P1716S
C
T
missense
Het
possibly damaging
0.647
0.110
2017-06-26
41
480092
Olfr1085
1.000
R6027
G1
225.01
Y
2
86657804 (GRCm38)
Y218S
T
G
missense
Het
probably damaging
1.000
0.647
phenotype
2017-06-26
42
480099
Olfr157
0.196
R6027
G1
225.01
Y
4
43835842 (GRCm38)
V216A
A
G
missense
Het
probably benign
0.030
0.090
phenotype
2017-06-26
43
480110
Olfr883
0.124
R6027
G1
217.47
Y
9
38026540 (GRCm38)
ATTGCTGTTT
ATTGCTGTTTGCTGTTT
frame shift
Het
probably null
0.976
phenotype
2017-06-26
44
501983
P2ry6
0.057
R6027
G1
42.01
Y
7
100938508 (GRCm38)
M215L
T
G
missense
Het
probably benign
0.000
0.090
phenotype
2018-02-08
45
480133
Parp4
0.160
R6027
G1
225.01
Y
14
56629158 (GRCm38)
E1060K
G
A
missense
Het
probably benign
0.284
0.078
phenotype
2017-06-26
46
480137
Pde10a
0.000
R6027
G1
225.01
Y
17
8964677 (GRCm38)
I822V
A
G
missense
Het
possibly damaging
0.778
0.295
phenotype
2017-06-26
47
480119
Pkd1l1
1.000
R6027
G1
141.01
Y
11
8916272 (GRCm38)
G528*
C
A
nonsense
Het
probably null
0.975
phenotype
2017-06-26
48
480134
Ptk2
1.000
R6027
G1
225.01
Y
15
73229913 (GRCm38)
Q816L
T
A
missense
Het
probably damaging
1.000
0.267
phenotype
2017-06-26
49
480130
Ptprg
0.000
R6027
G1
183.01
Y
14
12220613 (GRCm38)
F442L
T
C
missense
Het
possibly damaging
0.870
0.651
phenotype
2017-06-26
50
480095
Qrfpr
0.000
R6027
G1
145.01
Y
3
36222038 (GRCm38)
Y68H
A
G
missense
Het
probably benign
0.436
0.183
phenotype
2017-06-26
51
480136
Ripk4
0.184
R6027
G1
225.01
Y
16
97744074 (GRCm38)
W458R
A
G
missense
Het
probably damaging
0.999
0.390
phenotype
2017-06-26
52
480115
Ros1
0.156
R6027
G1
225.01
Y
10
52163968 (GRCm38)
T309N
G
T
missense
Het
possibly damaging
0.816
0.058
phenotype
2017-06-26
53
480120
Rps27a
0.963
R6027
G1
164.01
N
11
29547808 (GRCm38)
T
C
unclassified
Het
probably benign
phenotype
2017-06-26
54
480122
Sarm1
0.188
R6027
G1
225.01
Y
11
78483558 (GRCm38)
M577L
T
A
missense
Het
probably benign
0.000
0.090
phenotype
2017-06-26
55
480126
Scin
0.000
R6027
G1
225.01
Y
12
40077516 (GRCm38)
Y425C
T
C
missense
Het
probably damaging
1.000
0.894
phenotype
2017-06-26
56
480127
Serpina12
0.000
R6027
G1
225.01
Y
12
104031077 (GRCm38)
Y395F
T
A
missense
Het
probably benign
0.012
0.089
phenotype
2017-06-26
57
480142
Sfxn2
0.374
R6027
G1
225.01
Y
19
46582852 (GRCm38)
Y69*
T
A
nonsense
Het
probably null
0.976
2017-06-26
58
482092
Skint6
0.056
R6027
G1
225.01
Y
4
113096564 (GRCm38)
T
C
splice site
3 bp
Het
probably null
0.976
2017-06-27
59
480103
Slc7a1
1.000
R6027
G1
225.01
Y
5
148333964 (GRCm38)
I564S
A
C
missense
Het
possibly damaging
0.939
0.841
phenotype
2017-06-26
60
480125
Smc6
1.000
R6027
G1
225.01
Y
12
11306178 (GRCm38)
Y933N
T
A
missense
Het
probably benign
0.039
0.090
phenotype
2017-06-26
61
480085
Sp110
0.421
R6027
G1
206.01
Y
1
85577318 (GRCm38)
S438G
T
C
missense
Het
possibly damaging
0.828
0.179
2017-06-26
62
480089
St8sia4
0.000
R6027
G1
225.01
Y
1
95653674 (GRCm38)
R114S
T
A
missense
Het
probably damaging
1.000
0.647
phenotype
2017-06-26
63
480121
Trim11
0.266
R6027
G1
97.01
Y
11
58978463 (GRCm38)
A75V
C
T
missense
Het
possibly damaging
0.757
0.090
phenotype
2017-06-26
64
480105
Tufm
0.954
R6027
G1
225.01
Y
7
126487748 (GRCm38)
H68Q
T
A
missense
Het
probably damaging
1.000
0.647
phenotype
2017-06-26
65
480139
Ythdc2
0.000
R6027
G1
225.01
Y
18
44860436 (GRCm38)
D194E
T
A
missense
Het
probably benign
0.016
0.090
phenotype
2017-06-26
[records 1 to 65 of 65]