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Incidental Mutations
63
incidental mutations are currently displayed, and affect
62
genes.
12
are Possibly Damaging.
23
are Probably Damaging.
16
are Probably Benign.
11
are Probably Null.
4
create premature stop codons.
3
are critical splice junction mutations.
Mutations in Coding Regions/Splice Sites Identified by Next-Gen Sequencing
[records 1 to 63 of 63]
10
25
50
100
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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
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
425609
A2m
0.000
R5377
G1
225
N
6
121645253
V372F
G
T
missense
Het
probably benign
0.000
phenotype
08/04/2016
2
425596
Adcy10
0.185
R5377
G1
225
N
1
165519895
C393Y
G
A
missense
Het
probably damaging
1.000
phenotype
08/04/2016
3
425647
Adgrg7
0.000
R5377
G1
225
N
16
56730306
I681S
A
C
missense
Het
possibly damaging
0.683
phenotype
08/04/2016
4
425650
Akap8l
0.654
R5377
G1
216
N
17
32321511
T
C
unclassified
Het
probably benign
08/04/2016
5
425604
Akr1a1
0.368
R5377
G1
225
N
4
116639895
V156E
A
T
missense
Het
probably damaging
1.000
phenotype
08/04/2016
6
425652
Alk
0.142
R5377
G1
225
N
17
71895739
D1167A
T
G
missense
Het
probably damaging
0.999
phenotype
08/04/2016
7
425620
Ankrd11
1.000
R5377
G1
225
N
8
122893714
T
C
splice site
3306 bp
Het
probably null
phenotype
08/04/2016
8
425594
Aspm
0.000
R5377
G1
225
N
1
139457483
N288K
T
A
missense
Het
probably damaging
0.957
phenotype
08/04/2016
9
425595
Aspm
0.000
R5377
G1
225
N
1
139470395
A
G
splice site
Het
probably null
phenotype
08/04/2016
10
425634
Asxl2
0.942
R5377
G1
225
N
12
3474618
G
A
splice site
5 bp
Het
probably null
phenotype
08/04/2016
11
425632
Atp6v0a1
1.000
R5377
G1
147
N
11
101055587
H802R
A
G
missense
Het
probably damaging
1.000
phenotype
08/04/2016
12
425629
B4galnt1
0.000
R5377
G1
225
N
10
127171822
T531A
A
G
missense
Het
possibly damaging
0.953
phenotype
08/04/2016
13
425612
Ccdc114
0.059
R5377
G1
225
N
7
45942082
R257*
C
T
nonsense
Het
probably null
phenotype
08/04/2016
14
425608
Cecr2
1.000
R5377
G1
225
N
6
120756569
N506D
A
G
missense
Het
possibly damaging
0.868
phenotype
08/04/2016
15
425649
Crebrf
0.552
R5377
G1
225
N
17
26759865
V509A
T
C
missense
Het
probably damaging
0.986
phenotype
08/04/2016
16
425651
Cyp4f40
0.058
R5377
G1
225
N
17
32675616
I413F
A
T
missense
Het
probably null
0.608
phenotype
08/04/2016
17
425616
Defb12
0.057
R5377
G1
225
N
8
19114326
C
A
critical splice donor site
1 bp
Het
probably null
08/04/2016
18
425630
Dnah2
0.000
R5377
G1
225
N
11
69421848
E4297G
T
C
missense
Het
probably damaging
0.998
phenotype
08/04/2016
19
425606
Dpysl5
0.396
R5377
G1
225
N
5
30791513
N371Y
A
T
missense
Het
probably damaging
0.998
phenotype
08/04/2016
20
425644
Eef1d
0.357
R5377
G1
225
N
15
75903189
T207N
G
T
missense
Het
probably benign
0.250
phenotype
08/04/2016
21
425637
Esrrb
1.000
R5377
G1
225
N
12
86519009
Q416*
C
T
nonsense
Het
probably null
phenotype
08/04/2016
22
425636
Exd2
0.096
R5377
G1
225
N
12
80489448
L284P
T
C
missense
Het
probably damaging
0.996
08/04/2016
23
425622
Fat3
0.438
R5377
G1
225
N
9
16376443
I595F
T
A
missense
Het
probably benign
0.055
phenotype
08/04/2016
24
500984
Gm9920
0.070
R5377
G1
225
N
15
55108975
A
G
unclassified
Het
probably benign
12/01/2017
25
425621
Hephl1
0.121
R5377
G1
225
N
9
15069788
K783E
T
C
missense
Het
probably damaging
0.998
08/04/2016
26
425615
Irs2
0.461
R5377
G1
225
N
8
11005277
S1052P
A
G
missense
Het
probably benign
0.003
phenotype
08/04/2016
27
425589
Kctd18
0.082
R5377
G1
225
N
1
57963093
I192V
T
C
missense
Het
probably benign
0.428
08/04/2016
28
425653
Lama3
1.000
R5377
G1
225
N
18
12453746
D722G
A
G
missense
Het
probably damaging
0.994
phenotype
08/04/2016
29
425603
Lepr
0.000
R5377
G1
225
N
4
101815019
V1080A
T
C
missense
Het
possibly damaging
0.714
phenotype
08/04/2016
30
425635
Lpin1
0.460
R5377
G1
225
N
12
16563655
G504S
C
T
missense
Het
probably damaging
0.999
phenotype
08/04/2016
31
425641
Lrit2
0.058
R5377
G1
225
N
14
37069183
Q273P
A
C
missense
Het
possibly damaging
0.586
08/04/2016
32
425656
Mgea5
1.000
R5377
G1
225
N
19
45758022
Y779*
A
T
nonsense
Het
probably null
phenotype
08/04/2016
33
425619
Mlkl
0.091
R5377
G1
225
N
8
111327937
E189D
T
A
missense
Het
probably benign
0.231
phenotype
08/04/2016
34
425601
Mttp
0.836
R5377
G1
225
N
3
138105029
R608H
C
T
missense
Het
probably benign
0.032
phenotype
08/04/2016
35
425613
Nav2
0.488
R5377
G1
225
N
7
49589160
V2011A
T
C
missense
Het
probably benign
0.016
phenotype
08/04/2016
36
425631
Nos2
0.000
R5377
G1
225
N
11
78957491
I1075F
A
T
missense
Het
probably benign
0.002
phenotype
08/04/2016
37
425624
Npat
1.000
R5377
G1
225
N
9
53550036
A
G
critical splice acceptor site
Het
probably null
08/04/2016
38
425593
Nucks1
0.353
R5377
G1
225
N
1
131919033
F16L
T
C
missense
Het
probably damaging
0.961
phenotype
08/04/2016
39
425626
Nus1
1.000
R5377
G1
225
N
10
52429213
S150P
T
C
missense
Het
possibly damaging
0.734
phenotype
08/04/2016
40
425599
Olfr1230
0.099
R5377
G1
225
N
2
89297162
T36K
G
T
missense
Het
probably damaging
0.991
phenotype
08/04/2016
41
425623
Olfr881
0.069
R5377
G1
225
N
9
37992612
Y40F
A
T
missense
Het
probably benign
0.131
phenotype
08/04/2016
42
425605
Pclo
0.000
R5377
G1
225
N
5
14681353
T3290A
A
G
missense
Het
unknown
phenotype
08/04/2016
43
425592
Pign
0.796
R5377
G1
225
N
1
105657812
F4Y
A
T
missense
Het
probably benign
0.118
phenotype
08/04/2016
44
425628
Rfx4
1.000
R5377
G1
225
N
10
84860542
N233D
A
G
missense
Het
possibly damaging
0.810
phenotype
08/04/2016
45
425643
Rpgrip1
0.225
R5377
G1
225
N
14
52160195
M1325L
A
T
missense
Het
possibly damaging
0.956
phenotype
08/04/2016
46
425590
Rufy4
0.256
R5377
G1
225
N
1
74147663
C537R
T
C
missense
Het
probably damaging
0.988
0.860
08/04/2016
47
425645
Scaf11
0.000
R5377
G1
225
N
15
96417120
H1227L
T
A
missense
Het
possibly damaging
0.551
08/04/2016
48
425655
Sec31b
0.118
R5377
G1
225
N
19
44518637
P840T
G
T
missense
Het
probably damaging
1.000
phenotype
08/04/2016
49
425627
Slc16a9
0.000
R5377
G1
225
N
10
70283128
L426I
T
A
missense
Het
probably damaging
0.999
08/04/2016
50
425639
Slc17a2
0.073
R5377
G1
225
N
13
23812592
S27P
T
C
missense
Het
probably damaging
0.998
08/04/2016
51
425654
Slc22a30
0.097
R5377
G1
225
N
19
8344393
Q436*
G
A
nonsense
Het
probably null
0.976
08/04/2016
52
425617
Tacc1
0.367
R5377
G1
225
N
8
25182283
S310P
A
G
missense
Het
possibly damaging
0.938
phenotype
08/04/2016
53
425602
Tmem245
0.430
R5377
G1
120
N
4
56947084
R110C
G
A
missense
Het
probably damaging
0.993
08/04/2016
54
425591
Trip12
1.000
R5377
G1
225
N
1
84757431
Y953C
T
C
missense
Het
probably damaging
1.000
phenotype
08/04/2016
55
425600
Trpm7
1.000
R5377
G1
225
N
2
126842855
C
A
critical splice donor site
1 bp
Het
probably null
phenotype
08/04/2016
56
425598
Ush2a
0.697
R5377
G1
225
N
1
188912123
V4561I
G
A
missense
Het
probably benign
0.001
phenotype
08/04/2016
57
425638
Vmn1r192
0.064
R5377
G1
225
N
13
22187631
V140I
C
T
missense
Het
probably benign
0.011
08/04/2016
58
425614
Vmn2r66
0.177
R5377
G1
225
N
7
85006818
I330N
A
T
missense
Het
probably damaging
0.988
08/04/2016
59
425648
Vmn2r99
0.119
R5377
G1
225
N
17
19379269
V405A
T
C
missense
Het
probably damaging
0.998
08/04/2016
60
425642
Wdhd1
1.000
R5377
G1
225
N
14
47272221
V172G
A
C
missense
Het
probably benign
0.153
phenotype
08/04/2016
61
425618
Zfhx3
0.935
R5377
G1
225
N
8
108951185
R2956C
C
T
missense
Het
possibly damaging
0.954
phenotype
08/04/2016
62
425610
Zfp446
0.071
R5377
G1
225
N
7
12982251
L283P
T
C
missense
Het
possibly damaging
0.883
08/04/2016
63
425611
Zfp82
0.158
R5377
G1
225
N
7
30057166
K164E
T
C
missense
Het
probably damaging
0.998
08/04/2016
[records 1 to 63 of 63]