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Incidental Mutations
75
incidental mutations are currently displayed, and affect
75
genes.
15
are Possibly Damaging.
22
are Probably Damaging.
21
are Probably Benign.
14
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 75 of 75]
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
221982
0610040J01Rik
0.106
R1978
G1
225
N
5
63898537
C205*
T
A
nonsense
Het
probably null
08/25/2014
2
222002
2810474O19Rik
0.000
R1978
G1
225
N
6
149326432
N325K
T
A
missense
Het
probably damaging
0.971
08/25/2014
3
221966
4921539E11Rik
0.049
R1978
G1
225
N
4
103270764
T55S
T
A
missense
Het
possibly damaging
0.491
08/25/2014
4
222032
Akap12
0.116
R1978
G1
225
N
10
4313855
D88G
A
G
missense
Het
probably benign
0.062
phenotype
08/25/2014
5
221998
Ankrd53
0.000
R1978
G1
225
N
6
83763203
F84L
C
A
missense
Het
probably damaging
0.995
08/25/2014
6
222063
Apol7b
0.069
R1978
G1
225
N
15
77423339
F319V
A
C
missense
Het
probably damaging
0.988
08/25/2014
7
222026
Bsn
0.496
R1978
G1
225
N
9
108114549
S1335P
A
G
missense
Het
probably benign
0.348
phenotype
08/25/2014
8
222083
Cep192
0.000
R1978
G1
225
N
18
67803158
T
C
critical splice donor site
2 bp
Het
probably null
08/25/2014
9
221972
Cfap57
0.000
R1978
G1
225
N
4
118593132
S598P
A
G
missense
Het
probably benign
0.030
phenotype
08/25/2014
10
221984
Commd8
0.092
R1978
G1
225
N
5
72165499
H25R
T
C
missense
Het
probably damaging
1.000
phenotype
08/25/2014
11
221925
Crisp4
0.000
R1978
G1
225
N
1
18128665
I143V
T
C
missense
Het
probably benign
0.037
phenotype
08/25/2014
12
221970
Cyp4a12b
0.064
R1978
G1
207
N
4
115438145
T483S
A
T
missense
Het
probably benign
0.007
08/25/2014
13
222065
Dbx2
0.066
R1978
G1
225
N
15
95632353
M244I
C
T
missense
Het
probably damaging
0.993
08/25/2014
14
221996
Dnah6
0.114
R1978
G1
225
N
6
73121970
H1982P
T
G
missense
Het
possibly damaging
0.507
phenotype
08/25/2014
15
221986
Fam220a
0.052
R1978
G1
225
N
5
143563127
P98Q
C
A
missense
Het
probably damaging
0.998
08/25/2014
16
222075
Ggnbp1
0.000
R1978
G1
225
N
17
27029543
K29E
A
G
missense
Het
possibly damaging
0.955
08/25/2014
17
222094
Gm14569
0.060
R1978
G1
222
N
X
36432128
M976R
A
C
missense
Het
probably benign
0.002
08/25/2014
18
222079
Gm9573
0.082
R1978
G1
225
N
17
35622965
T
A
intron
Het
probably benign
08/25/2014
19
221950
Hck
0.387
R1978
G1
225
N
2
153129856
W112C
G
T
missense
Het
probably damaging
1.000
phenotype
08/25/2014
20
222050
Heatr5a
0.257
R1978
G1
225
N
12
51939658
S591T
A
T
missense
Het
possibly damaging
0.773
08/25/2014
21
221939
Hhat
1.000
R1978
G1
225
N
1
192717107
S242P
A
G
missense
Het
probably benign
0.032
phenotype
08/25/2014
22
222081
Hnrnpll
0.844
R1978
G1
225
N
17
80044518
S333P
A
G
missense
Het
probably benign
0.007
phenotype
08/25/2014
23
222067
Hoxc6
0.000
R1978
G1
225
N
15
103010007
T
C
critical splice donor site
2 bp
Het
probably null
phenotype
08/25/2014
24
222040
Inpp5j
0.413
R1978
G1
225
N
11
3502150
P367S
G
A
missense
Het
probably damaging
1.000
phenotype
08/25/2014
25
221935
Lamc2
0.389
R1978
G1
225
N
1
153133597
A
G
critical splice donor site
2 bp
Het
probably null
phenotype
08/25/2014
26
222086
Loxhd1
0.162
R1978
G1
225
N
18
77321642
I194N
T
A
missense
Het
possibly damaging
0.856
phenotype
08/25/2014
27
221960
Miga1
0.000
R1978
G1
217
N
3
152335304
CCAGGGCAG
CCAG
frame shift
Het
probably null
08/25/2014
28
221988
Mkln1
0.613
R1978
G1
225
N
6
31490530
Q60*
C
T
nonsense
Het
probably null
phenotype
08/25/2014
29
221931
Mybph
0.082
R1978
G1
225
N
1
134196996
H185N
C
A
missense
Het
probably benign
0.010
08/25/2014
30
222042
Myo1g
0.000
R1978
G1
225
N
11
6520829
D9G
T
C
missense
Het
possibly damaging
0.532
phenotype
08/25/2014
31
222022
Myo6
0.000
R1978
G1
225
N
9
80228925
D110V
A
T
missense
Het
probably damaging
0.992
phenotype
08/25/2014
32
222034
Ncoa7
0.000
R1978
G1
225
N
10
30691299
V412A
A
G
missense
Het
probably benign
0.000
08/25/2014
33
221944
Neb
0.894
R1978
G1
225
N
2
52287345
K1328R
T
C
missense
Het
probably damaging
0.999
phenotype
08/25/2014
34
222010
Olfm5
0.081
R1978
G1
225
N
7
104164741
Q22L
T
A
missense
Het
unknown
08/25/2014
35
221948
Olfr1106
0.079
R1978
G1
225
N
2
87048835
V134M
C
T
missense
Het
possibly damaging
0.829
phenotype
08/25/2014
36
221974
Olfr1328
0.107
R1978
G1
225
N
4
118934184
Y221*
A
T
nonsense
Het
probably null
phenotype
08/25/2014
37
222038
Olfr1355
0.077
R1978
G1
225
N
10
78879280
Y36C
A
G
missense
Het
probably damaging
1.000
phenotype
08/25/2014
38
221929
Olfr1414
0.073
R1978
G1
225
N
1
92511777
G84C
C
A
missense
Het
probably damaging
1.000
phenotype
08/25/2014
39
222090
Olfr1423
0.296
R1978
G1
225
N
19
12036341
T134A
T
C
missense
Het
probably benign
0.057
phenotype
08/25/2014
40
221937
Olfr414
0.065
R1978
G1
225
N
1
174431091
I221N
T
A
missense
Het
probably damaging
0.999
phenotype
08/25/2014
41
221976
P3h1
0.000
R1978
G1
197
N
4
119247976
Q717L
A
T
missense
Het
probably null
0.001
phenotype
08/25/2014
42
221978
Pclo
0.000
R1978
G1
225
N
5
14713795
I4094T
T
C
missense
Het
unknown
phenotype
08/25/2014
43
222077
Pfdn6
0.965
R1978
G1
225
N
17
33939077
R73W
G
A
missense
Het
probably benign
0.007
phenotype
08/25/2014
44
222036
Phyhipl
0.079
R1978
G1
225
N
10
70559761
M205R
A
C
missense
Het
possibly damaging
0.938
08/25/2014
45
222087
Pitpnm1
0.000
R1978
G1
225
N
19
4107973
C
T
splice site
3044 bp
Het
probably null
phenotype
08/25/2014
46
221952
Plcg1
1.000
R1978
G1
225
N
2
160752578
A
G
splice site
4690 bp
Het
probably null
phenotype
08/25/2014
47
222074
Pnldc1
0.104
R1978
G1
225
N
17
12906505
S81P
A
G
missense
Het
possibly damaging
0.876
08/25/2014
48
222044
Pno1
1.000
R1978
G1
225
N
11
17204519
I221V
T
C
missense
Het
possibly damaging
0.568
phenotype
08/25/2014
49
222091
Porcn
R1978
G1
222
N
X
8204301
V75A
A
G
missense
Het
probably damaging
0.981
phenotype
08/25/2014
50
222004
Prkcg
0.000
R1978
G1
225
N
7
3305346
C69S
T
A
missense
Het
probably damaging
1.000
phenotype
08/25/2014
51
222014
Rbbp6
1.000
R1978
G1
225
N
7
122999488
G
T
unclassified
Het
probably benign
phenotype
08/25/2014
52
221941
Rif1
1.000
R1978
G1
217
N
2
52110324
GCCACCA
GCCA
unclassified
Het
probably benign
0.090
phenotype
08/25/2014
53
221927
Scly
0.103
R1978
G1
170
N
1
91320169
D413G
A
G
missense
Het
probably damaging
0.984
phenotype
08/25/2014
54
222028
Scn11a
0.109
R1978
G1
225
N
9
119780795
R996*
G
A
nonsense
Het
probably null
phenotype
08/25/2014
55
222000
Slc6a13
0.370
R1978
G1
225
N
6
121332373
D281V
A
T
missense
Het
probably damaging
0.999
phenotype
08/25/2014
56
222046
Slfn5
0.069
R1978
G1
225
N
11
82956616
V109A
T
C
missense
Het
probably benign
0.168
08/25/2014
57
221994
Smyd1
1.000
R1978
G1
225
N
6
71312719
A
T
splice site
Het
probably null
phenotype
08/25/2014
58
222070
Snx29
0.000
R1978
G1
205
N
16
11367724
M57K
T
A
missense
Het
probably benign
0.231
08/25/2014
59
222024
Stag1
1.000
R1978
G1
225
N
9
100888086
I603S
T
G
missense
Het
probably benign
0.026
phenotype
08/25/2014
60
221962
Svep1
1.000
R1978
G1
225
N
4
58097292
C1417F
C
A
missense
Het
possibly damaging
0.734
phenotype
08/25/2014
61
222072
Tbc1d23
0.748
R1978
G1
225
N
16
57189351
I392V
T
C
missense
Het
probably benign
0.000
phenotype
08/25/2014
62
221958
Tchh
0.073
R1978
G1
225
N
3
93446799
L1182P
T
C
missense
Het
unknown
08/25/2014
63
222020
Tle3
1.000
R1978
G1
203
N
9
61394633
V108E
T
A
missense
Het
probably damaging
0.998
phenotype
08/25/2014
64
221956
Tmem144
0.068
R1978
G1
225
N
3
79825400
T
C
splice site
Het
probably null
08/25/2014
65
221933
Tpr
1.000
R1978
G1
225
N
1
150419907
L894V
T
G
missense
Het
possibly damaging
0.650
phenotype
08/25/2014
66
222062
Trappc9
0.000
R1978
G1
225
N
15
73000025
V472E
A
T
missense
Het
probably damaging
1.000
phenotype
08/25/2014
67
222054
Trim38
0.054
R1978
G1
225
N
13
23791098
V340A
T
C
missense
Het
probably damaging
0.999
phenotype
08/25/2014
68
222058
Ttc37
0.427
R1978
G1
225
N
13
76134815
V752A
T
C
missense
Het
probably benign
0.001
phenotype
08/25/2014
69
221945
Ttn
1.000
R1978
G1
225
N
2
76811243
L5176Q
A
T
missense
Het
possibly damaging
0.943
0.071
phenotype
08/25/2014
70
221990
Vmn1r12
0.137
R1978
G1
225
N
6
57159509
I197N
T
A
missense
Het
possibly damaging
0.891
08/25/2014
71
221992
Vmn1r26
0.079
R1978
G1
225
N
6
58009126
Y26C
T
C
missense
Het
possibly damaging
0.827
08/25/2014
72
222012
Vwa3a
0.000
R1978
G1
225
N
7
120758954
I83V
A
G
missense
Het
probably null
0.001
08/25/2014
73
222030
Xirp1
0.532
R1978
G1
225
N
9
120018591
E409K
C
T
missense
Het
probably benign
0.001
phenotype
08/25/2014
74
222052
Zc3h14
0.000
R1978
G1
225
N
12
98763922
I46R
T
G
missense
Het
probably damaging
0.971
phenotype
08/25/2014
75
222008
Zfp976
0.076
R1978
G1
225
N
7
42613841
C191R
A
G
missense
Het
probably damaging
0.998
08/25/2014
[records 1 to 75 of 75]