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Incidental Mutations
38
incidental mutations are currently displayed, and affect
38
genes.
8
are Possibly Damaging.
16
are Probably Damaging.
9
are Probably Benign.
4
are Probably Null.
1
create premature stop codons.
2
are critical splice junction mutations.
Mutations in Coding Regions/Splice Sites Identified by Next-Gen Sequencing
[records 1 to 38 of 38]
10
25
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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
527979
4932415D10Rik
0.075
R6646
G1
225.01
Y
10
82296830
E115D
T
A
missense
Het
unknown
0.063
07/24/2018
2
527968
Ada
1.000
R6646
G1
225.01
Y
2
163735423
N48K
G
T
missense
Het
probably benign
0.000
phenotype
07/24/2018
3
527994
Aldh1a7
0.283
R6646
G1
225.01
Y
19
20699911
A449T
C
T
missense
Het
possibly damaging
0.944
07/24/2018
4
527982
Arhgef28
0.000
R6646
G1
225.01
Y
13
97939494
V1344A
A
G
missense
Het
probably benign
0.095
phenotype
07/24/2018
5
527985
Carmil3
0.248
R6646
G1
225.01
Y
14
55507930
E1371D
A
T
missense
Het
probably damaging
0.966
07/24/2018
6
527989
Crebbp
1.000
R6646
G1
225.01
Y
16
4119806
A698T
C
T
missense
Het
possibly damaging
0.915
0.073
phenotype
07/24/2018
7
527973
Dedd2
0.150
R6646
G1
166.01
Y
7
25203613
D307G
T
C
missense
Het
probably damaging
1.000
phenotype
07/24/2018
8
527987
Dennd6b
0.099
R6646
G1
225.01
Y
15
89186184
F427L
G
T
missense
Het
probably damaging
0.994
0.882
07/24/2018
9
527997
Dnase1l1
0.069
R6646
G1
222
Y
X
74277038
C
T
critical splice donor site
1 bp
Homo
probably null
0.971
phenotype
07/24/2018
10
527975
Doc2a
0.093
R6646
G1
225.01
Y
7
126851619
G
A
critical splice donor site
1 bp
Het
probably null
phenotype
07/24/2018
11
527959
Dst
0.219
R6646
G1
225.01
Y
1
34268807
T6503A
A
G
missense
Het
possibly damaging
0.804
phenotype
07/24/2018
12
527965
Ehmt1
1.000
R6646
G1
181.01
Y
2
24806310
I922K
A
T
missense
Het
probably damaging
0.992
0.647
phenotype
07/24/2018
13
527972
Gbp9
0.053
R6646
G1
225.01
Y
5
105082903
I385T
A
G
missense
Het
probably benign
0.127
0.090
07/24/2018
14
527969
Gipc2
0.151
R6646
G1
225.01
Y
3
152094201
D297E
A
T
missense
Het
possibly damaging
0.609
0.179
07/24/2018
15
527988
Krt6b
0.110
R6646
G1
225.01
Y
15
101677214
Q428L
T
A
missense
Het
probably damaging
0.981
07/24/2018
16
527996
Loxl4
0.000
R6646
G1
225.01
Y
19
42598781
D625G
T
C
missense
Het
probably damaging
1.000
phenotype
07/24/2018
17
527963
Lrrn2
0.081
R6646
G1
225.01
Y
1
132939056
P620S
C
T
missense
Het
probably benign
0.000
phenotype
07/24/2018
18
527991
Msh6
1.000
R6646
G1
225.01
Y
17
87986442
V875A
T
C
missense
Het
possibly damaging
0.798
0.073
phenotype
07/24/2018
19
527964
Nebl
0.000
R6646
G1
225.01
Y
2
17376685
T727A
T
C
missense
Het
probably damaging
0.998
07/24/2018
20
527980
Obscn
0.730
R6646
G1
225.01
Y
11
59082718
D1929G
T
C
missense
Het
possibly damaging
0.724
0.100
phenotype
07/24/2018
21
527961
Pard3b
0.000
R6646
G1
225.01
Y
1
62161121
V273A
T
C
missense
Het
probably benign
0.318
07/24/2018
22
527992
Pcdhb7
0.053
R6646
G1
225.01
Y
18
37343974
V721E
T
A
missense
Het
possibly damaging
0.905
07/24/2018
23
527970
Plaa
0.891
R6646
G1
225.01
Y
4
94589978
H82Q
A
T
missense
Het
probably benign
0.000
phenotype
07/24/2018
24
527978
Plcd1
0.380
R6646
G1
225.01
Y
9
119075032
Y278F
T
A
missense
Het
probably damaging
0.992
phenotype
07/24/2018
25
527977
Plxnb1
0.000
R6646
G1
225.01
Y
9
109108827
H1214N
C
A
missense
Het
probably benign
0.000
phenotype
07/24/2018
26
527983
Ptprg
0.000
R6646
G1
225.01
Y
14
11962714
P171T
C
A
missense
Het
probably damaging
1.000
0.647
phenotype
07/24/2018
27
527993
Rela
1.000
R6646
G1
225.01
Y
19
5647104
D446E
T
G
missense
Het
probably damaging
0.981
0.145
phenotype
07/24/2018
28
527967
Rpap1
0.966
R6646
G1
225.01
Y
2
119780131
I156V
T
C
missense
Het
probably benign
0.025
phenotype
07/24/2018
29
527984
Rpl15
0.928
R6646
G1
225.01
Y
14
18270040
Y59C
T
C
missense
Het
probably damaging
0.998
phenotype
07/24/2018
30
527986
Scx
1.000
R6646
G1
102.01
Y
15
76457921
T107N
C
A
missense
Het
probably damaging
1.000
0.361
phenotype
07/24/2018
31
527971
Skint5
0.056
R6646
G1
225.01
Y
4
113940777
K203I
T
A
missense
Het
possibly damaging
0.941
0.179
07/24/2018
32
527981
Slc16a6
0.000
R6646
G1
225.01
Y
11
109453162
M518I
C
T
missense
Het
probably benign
0.033
0.090
07/24/2018
33
527995
Sorbs1
0.808
R6646
G1
225.01
Y
19
40325549
G940R
C
T
missense
Het
probably damaging
1.000
phenotype
07/24/2018
34
527974
Synm
0.000
R6646
G1
225.01
Y
7
67735127
I487K
A
T
missense
Het
probably damaging
1.000
phenotype
07/24/2018
35
527976
Tcerg1l
0.000
R6646
G1
225.01
Y
7
138395183
A
T
splice site
Het
probably null
0.976
07/24/2018
36
527990
Vmn2r99
0.117
R6646
G1
225.01
Y
17
19380031
L439R
T
G
missense
Het
probably damaging
1.000
07/24/2018
37
527960
Wdr75
0.935
R6646
G1
190.01
Y
1
45799087
L52Q
T
A
missense
Het
probably damaging
1.000
0.926
07/24/2018
38
527966
Zswim2
0.055
R6646
G1
225.01
Y
2
83915784
R437*
T
A
nonsense
Het
probably null
0.975
07/24/2018
[records 1 to 38 of 38]