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Incidental Mutations
92
incidental mutations are currently displayed, and affect
92
genes.
16
are Possibly Damaging.
40
are Probably Damaging.
25
are Probably Benign.
11
are Probably Null.
5
create premature stop codons.
2
are critical splice junction mutations.
Mutations in Coding Regions/Splice Sites Identified by Next-Gen Sequencing
[records 1 to 92 of 92]
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
385032
4930505A04Rik
0.000
R4993
G1
225
N
11
30426349
V173M
C
T
missense
Het
probably damaging
0.971
0.647
05/10/2016
2
385057
9130008F23Rik
0.055
R4993
G1
225
N
17
40880161
Q126K
G
T
missense
Het
probably benign
0.184
05/10/2016
3
385015
Abca15
0.072
R4993
G1
225
N
7
120401718
N1492K
C
A
missense
Het
probably damaging
0.989
05/10/2016
4
385062
Afap1l2
0.082
R4993
G1
225
N
19
56918040
D402N
C
T
missense
Het
probably damaging
1.000
05/10/2016
5
385048
Akap11
0.000
R4993
G1
225
N
14
78512968
F660L
A
G
missense
Het
probably damaging
1.000
phenotype
05/10/2016
6
385007
Bcl3
0.000
R4993
G1
216
N
7
19820177
T89A
T
C
missense
Het
probably benign
0.002
phenotype
05/10/2016
7
384972
Bub1b
1.000
R4993
G1
225
N
2
118636770
I858T
T
C
missense
Het
possibly damaging
0.633
phenotype
05/10/2016
8
385028
Cdk19
0.000
R4993
G1
225
N
10
40476218
D288G
A
G
missense
Het
possibly damaging
0.790
phenotype
05/10/2016
9
385052
Cyp2d34
0.064
R4993
G1
225
N
15
82618329
D202V
T
A
missense
Het
probably damaging
0.999
05/10/2016
10
385041
Dip2c
0.596
R4993
G1
225
N
13
9575223
Y584*
T
G
nonsense
Het
probably null
phenotype
05/10/2016
11
385039
Dpf3
0.441
R4993
G1
167
N
12
83331861
A
T
critical splice donor site
2 bp
Het
probably null
phenotype
05/10/2016
12
385063
Drp2
0.132
R4993
G1
222
N
X
134441316
R567H
G
A
missense
Homo
probably damaging
0.989
0.377
phenotype
05/10/2016
13
385030
Emid1
0.079
R4993
G1
225
N
11
5131512
Q212K
G
T
missense
Het
probably benign
0.038
05/10/2016
14
385045
Esm1
0.093
R4993
G1
225
N
13
113213399
Q118*
C
T
nonsense
Het
probably null
phenotype
05/10/2016
15
384973
Fahd2a
0.000
R4993
G1
225
N
2
127436364
I308L
T
G
missense
Het
probably benign
0.075
05/10/2016
16
385046
Fam208a
1.000
R4993
G1
169
N
14
27429114
W16R
T
A
missense
Het
possibly damaging
0.876
phenotype
05/10/2016
17
385012
Fanci
0.709
R4993
G1
225
N
7
79435378
*851Q
T
C
makesense
Het
probably null
phenotype
05/10/2016
18
384969
Fastkd1
0.066
R4993
G1
225
N
2
69702740
V428F
C
A
missense
Het
probably damaging
0.989
05/10/2016
19
385033
Fat2
0.000
R4993
G1
225
N
11
55283092
I2265N
A
T
missense
Het
probably damaging
0.990
phenotype
05/10/2016
20
384991
Gale
0.757
R4993
G1
225
N
4
135966860
H191Q
C
A
missense
Het
probably damaging
1.000
phenotype
05/10/2016
21
384976
Ghsr
0.000
R4993
G1
225
N
3
27372254
V153E
T
A
missense
Het
possibly damaging
0.874
phenotype
05/10/2016
22
384981
Gm10696
0.940
R4993
G1
225
N
3
94176316
G63R
C
T
missense
Het
probably damaging
0.995
05/10/2016
23
385049
Gpc6
0.178
R4993
G1
225
N
14
117624539
N289S
A
G
missense
Het
possibly damaging
0.927
phenotype
05/10/2016
24
385037
Hoxb6
0.541
R4993
G1
225
N
11
96300711
Y153F
A
T
missense
Het
probably damaging
1.000
phenotype
05/10/2016
25
384980
Ints3
0.965
R4993
G1
225
N
3
90415507
T139A
T
C
missense
Het
probably benign
0.051
phenotype
05/10/2016
26
385021
Irf2bp2
0.783
R4993
G1
162
N
8
126592671
S256P
A
G
missense
Het
probably benign
0.208
phenotype
05/10/2016
27
384988
Klf4
1.000
R4993
G1
177
N
4
55530640
P148Q
G
T
missense
Het
probably damaging
0.995
phenotype
05/10/2016
28
385022
Loxl1
0.000
R4993
G1
203
N
9
58312537
H117P
T
G
missense
Het
probably damaging
0.985
phenotype
05/10/2016
29
385020
Lpl
1.000
R4993
G1
225
N
8
68895793
K225E
A
G
missense
Het
probably benign
0.230
phenotype
05/10/2016
30
384979
Lrba
0.000
R4993
G1
225
N
3
86360037
V1678D
T
A
missense
Het
probably damaging
1.000
phenotype
05/10/2016
31
385038
Med1
1.000
R4993
G1
225
N
11
98163904
F398Y
A
T
missense
Het
probably damaging
1.000
phenotype
05/10/2016
32
384992
Mfap2
0.122
R4993
G1
169
N
4
141015578
*186Q
T
C
makesense
Het
probably null
phenotype
05/10/2016
33
385051
Mfsd3
0.062
R4993
G1
225
N
15
76701982
L105P
T
C
missense
Het
probably damaging
1.000
05/10/2016
34
384997
Mlxip
0.212
R4993
G1
225
N
5
123395294
I122S
T
G
missense
Het
probably damaging
1.000
phenotype
05/10/2016
35
385047
Mmrn2
0.055
R4993
G1
225
N
14
34396398
Y107F
A
T
missense
Het
probably damaging
1.000
phenotype
05/10/2016
36
385017
Mtg1
1.000
R4993
G1
225
N
7
140140283
D88Y
G
T
missense
Het
probably null
1.000
05/10/2016
37
384990
Mutyh
0.000
R4993
G1
225
N
4
116817935
S426R
T
A
missense
Het
probably benign
0.006
phenotype
05/10/2016
38
385018
Myo16
0.380
R4993
G1
225
N
8
10476094
T878I
C
T
missense
Het
probably damaging
0.991
phenotype
05/10/2016
39
385023
Myo9a
0.000
R4993
G1
225
N
9
59861472
Y912*
T
A
nonsense
Het
probably null
phenotype
05/10/2016
40
385035
Ncor1
1.000
R4993
G1
225
N
11
62343341
I669R
A
C
missense
Het
probably damaging
1.000
phenotype
05/10/2016
41
384963
Ndufs1
1.000
R4993
G1
225
N
1
63163776
I210V
T
C
missense
Het
probably benign
0.000
phenotype
05/10/2016
42
385040
Nek9
0.000
R4993
G1
225
N
12
85310420
C657R
A
G
missense
Het
probably damaging
1.000
phenotype
05/10/2016
43
384977
Noct
0.155
R4993
G1
225
N
3
51250021
T260I
C
T
missense
Het
probably damaging
1.000
phenotype
05/10/2016
44
385029
Nr1h4
0.767
R4993
G1
225
N
10
89498180
M102K
A
T
missense
Het
probably benign
0.011
phenotype
05/10/2016
45
385034
Obscn
0.730
R4993
G1
225
N
11
59124761
R1054C
G
A
missense
Het
possibly damaging
0.476
phenotype
05/10/2016
46
384971
Olfr1124
0.082
R4993
G1
225
N
2
87435152
F222I
T
A
missense
Het
probably benign
0.001
phenotype
05/10/2016
47
384968
Olfr352
0.083
R4993
G1
225
N
2
36869988
Q141K
C
A
missense
Het
probably benign
0.296
phenotype
05/10/2016
48
385000
Olfr47
0.077
R4993
G1
225
N
6
43236456
M283V
A
G
missense
Het
possibly damaging
0.485
phenotype
05/10/2016
49
512165
Olfr501-ps1
R4993
G1
225
N
7
108508243
M62I
G
A
missense
Het
probably damaging
0.999
04/10/2018
50
385013
Olfr615
0.079
R4993
G1
225
N
7
103561317
I280N
T
A
missense
Het
possibly damaging
0.632
phenotype
05/10/2016
51
385014
Olfr619
0.056
R4993
G1
225
N
7
103603656
M1L
A
T
start codon destroyed
Het
probably benign
0.008
phenotype
05/10/2016
52
384978
Otol1
0.000
R4993
G1
225
N
3
70018878
Q129K
C
A
missense
Het
probably benign
0.073
05/10/2016
53
385031
Otx1
0.850
R4993
G1
225
N
11
21998532
A
T
splice site
Het
probably null
phenotype
05/10/2016
54
385058
Pcdhac2
0.000
R4993
G1
225
N
18
37146251
N761K
C
A
missense
Het
probably damaging
0.963
phenotype
05/10/2016
55
385002
Pde1c
0.198
R4993
G1
225
N
6
56150624
M452K
A
T
missense
Het
probably damaging
0.978
phenotype
05/10/2016
56
385016
Phkg2
0.527
R4993
G1
225
N
7
127573941
Y24H
T
C
missense
Het
probably damaging
1.000
phenotype
05/10/2016
57
384964
Pigr
0.056
R4993
G1
209
N
1
130841817
D122N
G
A
missense
Het
probably benign
0.264
0.384
phenotype
05/10/2016
58
384966
Prg4
0.132
R4993
G1
165
N
1
150460681
C97Y
C
T
missense
Het
probably damaging
1.000
phenotype
05/10/2016
59
385042
Ptdss1
0.000
R4993
G1
225
N
13
66945288
V64A
T
C
missense
Het
probably benign
0.012
phenotype
05/10/2016
60
384975
Ralgapa2
0.216
R4993
G1
225
N
2
146447311
K324E
T
C
missense
Het
probably damaging
0.999
phenotype
05/10/2016
61
384983
Rfx5
0.287
R4993
G1
225
N
3
94955815
V73I
G
A
missense
Het
probably benign
0.274
phenotype
05/10/2016
62
384982
Riiad1
0.102
R4993
G1
225
N
3
94472863
T42A
T
C
missense
Het
probably benign
0.010
05/10/2016
63
385050
Rims2
0.547
R4993
G1
225
N
15
39454445
V640A
T
C
missense
Het
possibly damaging
0.898
phenotype
05/10/2016
64
384965
Rnpep
0.173
R4993
G1
225
N
1
135263032
S592Y
G
T
missense
Het
possibly damaging
0.797
05/10/2016
65
385026
Scap
0.000
R4993
G1
225
N
9
110378390
L431P
T
C
missense
Het
probably damaging
1.000
phenotype
05/10/2016
66
384974
Siglec1
0.076
R4993
G1
225
N
2
131073361
I1437F
T
A
missense
Het
possibly damaging
0.928
phenotype
05/10/2016
67
384989
Skint1
0.094
R4993
G1
225
N
4
112028333
T
C
critical splice donor site
2 bp
Het
probably null
phenotype
05/10/2016
68
384986
Slc44a1
0.000
R4993
G1
225
N
4
53543644
E396G
A
G
missense
Het
probably damaging
1.000
05/10/2016
69
384993
Slc4a2
0.438
R4993
G1
225
N
5
24434869
F521S
T
C
missense
Het
probably damaging
1.000
phenotype
05/10/2016
70
385025
Smarcc1
1.000
R4993
G1
225
N
9
110175061
S394R
T
A
missense
Het
probably damaging
0.999
phenotype
05/10/2016
71
385053
Socs1
1.000
R4993
G1
157
N
16
10784685
S63P
A
G
missense
Het
probably benign
0.173
phenotype
05/10/2016
72
384998
Sun1
0.000
R4993
G1
215
N
5
139225333
S20A
T
G
missense
Het
possibly damaging
0.837
phenotype
05/10/2016
73
385036
Tac4
R4993
G1
225
N
11
95265242
K50*
A
T
nonsense
Het
probably null
phenotype
05/10/2016
74
384999
Tcaf2
0.098
R4993
G1
225
N
6
42642640
I151T
A
G
missense
Het
probably damaging
0.998
05/10/2016
75
385060
Tcf4
1.000
R4993
G1
225
N
18
69681769
V587A
T
C
missense
Het
probably damaging
0.999
phenotype
05/10/2016
76
385044
Ttc37
0.427
R4993
G1
225
N
13
76182936
M1495K
T
A
missense
Het
probably damaging
0.965
phenotype
05/10/2016
77
384970
Ttn
1.000
R4993
G1
225
N
2
76740909
K24801*
T
A
nonsense
Het
probably null
phenotype
05/10/2016
78
385006
Tuba3b
0.186
R4993
G1
225
N
6
145621273
M413I
G
T
missense
Het
possibly damaging
0.788
05/10/2016
79
384985
Ufl1
0.878
R4993
G1
225
N
4
25267832
A280T
C
T
missense
Het
possibly damaging
0.696
phenotype
05/10/2016
80
384994
Ugt2b5
0.061
R4993
G1
225
N
5
87139673
I212L
T
A
missense
Het
probably benign
0.004
05/10/2016
81
385056
Umodl1
0.000
R4993
G1
225
N
17
30986485
T685A
A
G
missense
Het
probably benign
0.002
05/10/2016
82
385024
Uqcrc1
0.966
R4993
G1
225
N
9
108944810
V183D
T
A
missense
Het
probably damaging
0.999
05/10/2016
83
384967
Ush2a
0.588
R4993
G1
203
N
1
188910720
N4093S
A
G
missense
Het
probably benign
0.028
phenotype
05/10/2016
84
385008
Vmn1r167
0.056
R4993
G1
225
N
7
23505228
S121N
C
T
missense
Het
probably damaging
0.999
05/10/2016
85
385003
Vmn1r47
0.058
R4993
G1
225
N
6
90022758
S291G
A
G
missense
Het
possibly damaging
0.792
05/10/2016
86
385055
Vmn2r108
0.079
R4993
G1
225
N
17
20481187
V17A
A
G
missense
Het
probably benign
0.041
05/10/2016
87
385009
Vmn2r58
0.363
R4993
G1
225
N
7
41837752
H573L
T
A
missense
Het
probably benign
0.004
05/10/2016
88
385027
Xirp1
0.532
R4993
G1
225
N
9
120018792
V342I
C
T
missense
Het
probably damaging
1.000
phenotype
05/10/2016
89
384987
Zfp462
0.642
R4993
G1
225
N
4
55051204
M2226V
A
G
missense
Het
possibly damaging
0.619
phenotype
05/10/2016
90
385001
Zfp467
0.173
R4993
G1
225
N
6
48439029
H230Y
G
A
missense
Het
probably damaging
1.000
phenotype
05/10/2016
91
385043
Zfp595
0.000
R4993
G1
225
N
13
67316401
K599N
T
A
missense
Het
probably damaging
0.988
phenotype
05/10/2016
92
385011
Zfp819
0.116
R4993
G1
225
N
7
43617296
T401K
C
A
missense
Het
probably benign
0.365
05/10/2016
[records 1 to 92 of 92]