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Incidental Mutations
45
incidental mutations are currently displayed, and affect
45
genes.
7
are Possibly Damaging.
19
are Probably Damaging.
14
are Probably Benign.
5
are Probably Null.
2
create premature stop codons.
2
are critical splice junction mutations.
Mutations in Coding Regions/Splice Sites Identified by Next-Gen Sequencing
[records 1 to 45 of 45]
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
426280
Aasdhppt
0.816
R5406
G1
189
N
9
4309387
V17D
A
T
missense
Het
probably damaging
1.000
phenotype
09/01/2016
2
426270
Abcb1a
0.147
R5406
G1
225
N
5
8702946
Q566K
C
A
missense
Het
probably damaging
0.992
phenotype
09/01/2016
3
426278
Adam26a
0.000
R5406
G1
225
N
8
43569104
C450S
A
T
missense
Het
probably damaging
1.000
phenotype
09/01/2016
4
426268
Adar
1.000
R5406
G1
225
N
3
89736111
P433L
C
T
missense
Het
probably damaging
1.000
phenotype
09/01/2016
5
426286
Aldh1a2
1.000
R5406
G1
225
N
9
71255121
A151S
G
T
missense
Het
possibly damaging
0.928
phenotype
09/01/2016
6
426296
Arsk
0.000
R5406
G1
225
N
13
76093947
H69L
T
A
missense
Het
probably benign
0.000
phenotype
09/01/2016
7
426299
Atf6b
0.608
R5406
G1
225
N
17
34653797
Y600*
T
A
nonsense
Het
probably null
phenotype
09/01/2016
8
426297
Blk
0.000
R5406
G1
225
N
14
63380731
G242V
C
A
missense
Het
probably damaging
1.000
phenotype
09/01/2016
9
426275
Bmt2
0.129
R5406
G1
131
N
6
13677832
M1K
A
T
start codon destroyed
Het
probably null
09/01/2016
10
426276
Catsperg1
0.059
R5406
G1
225
N
7
29185523
T891M
G
A
missense
Het
probably damaging
1.000
09/01/2016
11
426265
Ccdc32
0.151
R5406
G1
225
N
2
119022079
S131A
A
C
missense
Het
possibly damaging
0.750
09/01/2016
12
426279
Cdh8
0.000
R5406
G1
225
N
8
99196370
V298A
A
G
missense
Het
probably damaging
0.999
phenotype
09/01/2016
13
426287
Cfap54
0.079
R5406
G1
225
N
10
93001858
Q1060L
T
A
missense
Het
probably benign
0.332
phenotype
09/01/2016
14
426303
Cfap58
0.247
R5406
G1
225
N
19
48029102
M800I
G
A
missense
Het
possibly damaging
0.813
09/01/2016
15
426282
Cntn5
0.000
R5406
G1
225
N
9
9833460
V362D
A
T
missense
Het
probably damaging
0.999
phenotype
09/01/2016
16
426298
Fkbpl
0.928
R5406
G1
225
N
17
34645329
A24T
G
A
missense
Het
probably benign
0.000
0.090
phenotype
09/01/2016
17
426293
G2e3
0.628
R5406
G1
225
N
12
51372666
S699P
T
C
missense
Het
probably damaging
0.974
phenotype
09/01/2016
18
426274
Gbp4
0.000
R5406
G1
225
N
5
105119521
Q511K
G
T
missense
Het
possibly damaging
0.759
09/01/2016
19
426269
Gdap2
0.000
R5406
G1
225
N
3
100191675
I361N
T
A
missense
Het
probably damaging
0.999
09/01/2016
20
426300
Ino80c
0.907
R5406
G1
225
N
18
24112762
H92L
T
A
missense
Het
probably benign
0.176
09/01/2016
21
426302
Lipo4
0.108
R5406
G1
225
N
19
33503218
V250A
A
G
missense
Het
probably benign
0.004
09/01/2016
22
426290
Llgl1
1.000
R5406
G1
225
N
11
60713184
R1055W
C
T
missense
Het
probably damaging
0.985
phenotype
09/01/2016
23
457870
Lrriq3
0.104
R5406
G1
225
N
3
155129501
T
C
critical splice donor site
2 bp
Het
probably null
02/16/2017
24
426281
Mmp1a
0.330
R5406
G1
225
N
9
7467293
E290G
A
G
missense
Het
probably damaging
0.999
phenotype
09/01/2016
25
426261
Ncstn
1.000
R5406
G1
225
N
1
172072164
V317A
A
G
missense
Het
probably benign
0.001
phenotype
09/01/2016
26
426272
Nfxl1
0.171
R5406
G1
225
N
5
72556198
T134I
G
A
missense
Het
possibly damaging
0.922
09/01/2016
27
457871
Nup155
1.000
R5406
G1
225
N
15
8153638
A
T
critical splice acceptor site
Het
probably null
phenotype
02/16/2017
28
426264
Nup214
1.000
R5406
G1
225
N
2
32002607
P680T
C
A
missense
Het
probably damaging
0.958
phenotype
09/01/2016
29
426288
Olfr805
0.101
R5406
G1
225
N
10
129722930
L205F
G
A
missense
Het
probably damaging
0.999
phenotype
09/01/2016
30
426283
Olfr871
0.090
R5406
G1
225
N
9
20213158
K270E
A
G
missense
Het
probably benign
0.084
phenotype
09/01/2016
31
426284
Olfr874
0.100
R5406
G1
225
N
9
37746647
N171S
A
G
missense
Het
probably benign
0.233
phenotype
09/01/2016
32
426285
Olfr877
0.118
R5406
G1
225
N
9
37855219
V134I
G
A
missense
Het
probably benign
0.017
phenotype
09/01/2016
33
426273
Pkd2
1.000
R5406
G1
225
N
5
104480332
F424S
T
C
missense
Het
probably damaging
1.000
phenotype
09/01/2016
34
426271
Plb1
0.056
R5406
G1
225
N
5
32341915
D1074G
A
G
missense
Het
probably damaging
0.998
phenotype
09/01/2016
35
426267
Ppm1l
0.138
R5406
G1
225
N
3
69317594
S10P
T
C
missense
Het
possibly damaging
0.662
phenotype
09/01/2016
36
426291
Rnf213
0.000
R5406
G1
225
N
11
119440808
H2281R
A
G
missense
Het
probably damaging
0.999
phenotype
09/01/2016
37
501010
Rpa2
0.968
R5406
G1
225
N
4
132776248
A3S
G
T
missense
Het
probably benign
0.019
12/01/2017
38
426263
Sardh
0.079
R5406
G1
206
N
2
27211084
V698A
A
G
missense
Het
possibly damaging
0.721
phenotype
09/01/2016
39
426277
Saxo2
0.090
R5406
G1
225
N
7
82635378
C91S
A
T
missense
Het
probably benign
0.000
09/01/2016
40
426301
Slc3a2
1.000
R5406
G1
216
N
19
8708042
D198G
T
C
missense
Het
probably damaging
0.999
phenotype
09/01/2016
41
426295
Spata31d1d
0.000
R5406
G1
225
N
13
59728778
E314D
T
A
missense
Het
probably benign
0.326
09/01/2016
42
426266
Sptlc3
0.102
R5406
G1
173
N
2
139546478
V130A
T
C
missense
Het
probably benign
0.258
phenotype
09/01/2016
43
426262
Stpg3
0.058
R5406
G1
225
N
2
25213568
E115*
C
A
nonsense
Het
probably null
09/01/2016
44
426292
Tbcd
0.954
R5406
G1
225
N
11
121452101
D19E
T
A
missense
Het
probably benign
0.000
phenotype
09/01/2016
45
426294
Xrcc3
1.000
R5406
G1
225
N
12
111812111
D2G
T
C
missense
Het
probably damaging
0.993
phenotype
09/01/2016
[records 1 to 45 of 45]