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Incidental Mutations
47
incidental mutations are currently displayed, and affect
46
genes.
3
are Possibly Damaging.
11
are Probably Damaging.
21
are Probably Benign.
7
are Probably Null.
1
create premature stop codons.
3
are critical splice junction mutations.
Mutations in Coding Regions/Splice Sites Identified by Next-Gen Sequencing
[records 1 to 47 of 47]
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
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
582766
4932414N04Rik
0.000
R7523
G1
225.01
Y
2
68662480
H40Q
T
A
missense
Het
unknown
10/17/2019
2
582767
4932414N04Rik
0.000
R7523
G1
225.01
Y
2
68739329
Q463L
A
T
missense
Het
probably benign
0.007
10/17/2019
3
582792
Ano4
0.000
R7523
G1
225.01
Y
10
88971395
E775*
C
A
nonsense
Het
probably null
0.975
10/17/2019
4
582797
Atp12a
0.000
R7523
G1
225.01
Y
14
56365968
V10A
T
C
missense
Het
possibly damaging
0.853
phenotype
10/17/2019
5
582806
Camkmt
0.000
R7523
G1
225.01
Y
17
85391628
I144M
A
G
missense
Het
probably benign
0.010
phenotype
10/17/2019
6
582794
Cyth1
0.132
R7523
G1
217.47
Y
11
118183923
TGGGCAA
T
nonsense
Het
probably null
0.976
phenotype
10/17/2019
7
582805
Dazl
0.000
R7523
G1
225.01
Y
17
50287541
T162I
G
A
missense
Het
probably damaging
0.966
phenotype
10/17/2019
8
582782
Dnah10
0.000
R7523
G1
225.01
Y
5
124747739
K653R
A
G
missense
Het
probably damaging
0.969
phenotype
10/17/2019
9
582780
Exosc10
0.970
R7523
G1
225.01
Y
4
148563842
A
T
critical splice acceptor site
Het
probably null
phenotype
10/17/2019
10
582787
Fam96b
0.945
R7523
G1
225.01
Y
8
104641772
G
A
start gained
Het
probably benign
0.090
10/17/2019
11
582808
Fbn2
0.903
R7523
G1
225.01
Y
18
58066080
D1372G
T
C
missense
Het
probably benign
0.006
phenotype
10/17/2019
12
582771
Fxr1
1.000
R7523
G1
225.01
Y
3
34039543
V23A
T
C
missense
Het
probably benign
0.296
0.497
phenotype
10/17/2019
13
582772
Gmps
0.959
R7523
G1
225.01
Y
3
64011666
I557T
T
C
missense
Het
possibly damaging
0.778
phenotype
10/17/2019
14
582779
Ifnab
0.065
R7523
G1
225.01
Y
4
88690792
Y146N
A
T
missense
Het
probably damaging
1.000
0.740
10/17/2019
15
582799
Krt78
0.077
R7523
G1
225.01
N
15
101946601
Y925C
T
C
missense
Het
not run
phenotype
10/17/2019
16
582765
Lrp1b
0.000
R7523
G1
225.01
Y
2
41511461
V394M
C
T
missense
Het
phenotype
10/17/2019
17
582795
Ltbp2
0.825
R7523
G1
225.01
Y
12
84791034
T1211A
T
C
missense
Het
probably benign
0.003
0.061
phenotype
10/17/2019
18
582784
Man2a2
0.194
R7523
G1
225.01
Y
7
80368865
A82G
G
C
missense
Het
probably benign
0.001
0.079
phenotype
10/17/2019
19
582775
Mdn1
1.000
R7523
G1
225.01
Y
4
32667270
A
T
critical splice acceptor site
Het
probably null
10/17/2019
20
582793
Myo15b
0.072
R7523
G1
225.01
Y
11
115890858
I2798F
A
T
missense
Het
unknown
0.087
10/17/2019
21
582786
Nat3
0.000
R7523
G1
225.01
Y
8
67547574
I35T
T
C
missense
Het
probably damaging
0.991
0.647
phenotype
10/17/2019
22
582783
Nectin2
0.213
R7523
G1
225.01
Y
7
19730112
V314A
A
G
missense
Het
probably benign
0.002
phenotype
10/17/2019
23
582774
Nexn
0.597
R7523
G1
225.01
Y
3
152247178
R316G
T
C
missense
Het
probably benign
0.008
0.116
phenotype
10/17/2019
24
582776
Nfx1
0.568
R7523
G1
225.01
Y
4
41016119
I894V
A
G
missense
Het
probably benign
0.000
0.060
phenotype
10/17/2019
25
582768
Olfr1045
0.194
R7523
G1
225.01
Y
2
86198045
K236E
T
C
missense
Het
probably damaging
0.994
phenotype
10/17/2019
26
582800
Olfr15
0.185
R7523
G1
225.01
Y
16
3839699
V242A
T
C
missense
Het
probably benign
0.000
0.090
phenotype
10/17/2019
27
582810
Pdcd4
0.317
R7523
G1
225.01
Y
19
53910948
V123F
G
T
missense
Het
probably damaging
1.000
0.135
phenotype
10/17/2019
28
582807
Pik3c3
1.000
R7523
G1
225.01
Y
18
30293655
R275W
C
T
missense
Het
probably damaging
1.000
0.565
phenotype
10/17/2019
29
582804
Ppt2
0.000
R7523
G1
225.01
Y
17
34626803
A
G
critical splice donor site
2 bp
Het
probably null
phenotype
10/17/2019
30
582791
Prss35
0.100
R7523
G1
225.01
Y
9
86755374
C66S
T
A
missense
Het
probably damaging
0.999
10/17/2019
31
582777
Ptbp3
0.437
R7523
G1
225.01
Y
4
59546159
V11A
A
G
missense
Het
probably benign
0.000
0.069
phenotype
10/17/2019
32
582773
Ptpn22
0.846
R7523
G1
225.01
Y
3
103912015
N795S
A
G
missense
Het
probably damaging
0.957
0.073
phenotype
10/17/2019
33
582796
Ptprg
0.000
R7523
G1
225.01
Y
14
12237130
I1383S
T
G
missense
Het
probably damaging
0.968
phenotype
10/17/2019
34
582770
Rtel1
1.000
R7523
G1
208.01
Y
2
181322315
V36M
G
A
missense
Het
probably damaging
1.000
0.132
phenotype
10/17/2019
35
582789
Sf3b3
0.968
R7523
G1
225.01
Y
8
110813720
I1023T
A
G
missense
Het
probably benign
0.351
phenotype
10/17/2019
36
582790
Slc44a2
0.000
R7523
G1
225.01
Y
9
21345992
E411G
A
G
missense
Het
probably null
0.807
phenotype
10/17/2019
37
582769
Stard9
0.146
R7523
G1
225.01
Y
2
120699597
Y2112H
T
C
missense
Het
probably benign
0.000
10/17/2019
38
582781
Tada2b
0.958
R7523
G1
225.01
Y
5
36476767
I156V
T
C
missense
Het
probably benign
0.002
phenotype
10/17/2019
39
585942
Tenm2
0.578
R7523
G1
225.01
Y
11
36078581
A
T
splice site
Het
probably null
phenotype
10/18/2019
40
582778
Tle1
0.562
R7523
G1
225.01
Y
4
72145418
S199R
A
T
missense
Het
possibly damaging
0.939
0.072
10/17/2019
41
582785
Tubgcp2
0.952
R7523
G1
225.01
Y
7
140006870
I399T
A
G
missense
Het
probably benign
0.084
0.255
10/17/2019
42
582798
Ubr5
1.000
R7523
G1
225.01
Y
15
38004055
N1344S
T
C
missense
Het
phenotype
10/17/2019
43
582802
Vmn2r114
0.087
R7523
G1
225.01
Y
17
23310637
F164L
A
G
missense
Het
probably benign
0.009
10/17/2019
44
582809
Vps13a
0.000
R7523
G1
225.01
Y
19
16703789
T1041K
G
T
missense
Het
probably benign
0.000
0.064
phenotype
10/17/2019
45
582801
Zbtb20
1.000
R7523
G1
225.01
Y
16
43610512
V389A
T
C
missense
Het
probably benign
0.011
phenotype
10/17/2019
46
582803
Zfp811
0.067
R7523
G1
225.01
Y
17
32797752
I438N
A
T
missense
Het
probably benign
0.096
10/17/2019
47
582788
Zfp90
0.190
R7523
G1
225.01
Y
8
106423913
D86G
A
G
missense
Het
probably benign
0.067
0.138
phenotype
10/17/2019
[records 1 to 47 of 47]