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Incidental Mutations
81
incidental mutations are currently displayed, and affect
81
genes.
9
are Possibly Damaging.
33
are Probably Damaging.
24
are Probably Benign.
13
are Probably Null.
2
create premature stop codons.
3
are critical splice junction mutations.
Mutations in Coding Regions/Splice Sites Identified by Next-Gen Sequencing
[records 1 to 81 of 81]
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
ABI
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
230000
4930533L02Rik
0.189
R2086
G1
225
Y
7
125318595
M53T
T
C
missense
Het
unknown
0.087
09/18/2014
2
229967
Abcb11
0.795
R2086
G1
225
Y
2
69259476
T
A
splice site
Het
probably benign
phenotype
09/18/2014
3
230034
Acap2
0.146
R2086
G1
225
Y
16
31110945
A432P
C
G
missense
Het
probably damaging
1.000
0.968
09/18/2014
4
229978
Adamtsl1
0.158
R2086
G1
198
Y
4
86228012
R302G
A
G
missense
Het
probably damaging
0.997
0.377
phenotype
09/18/2014
5
230010
Ap2b1
1.000
R2086
G1
225
Y
11
83351118
S608A
T
G
missense
Het
possibly damaging
0.875
0.076
phenotype
09/18/2014
6
230033
Atp13a3
0.463
R2086
G1
225
Y
16
30352298
T310S
T
A
missense
Het
possibly damaging
0.893
0.155
phenotype
09/18/2014
7
229988
Atp6v1b1
0.000
R2086
G1
225
Y
6
83757852
V382A
T
C
missense
Het
probably benign
0.102
0.090
phenotype
09/18/2014
8
229977
Atp6v1g1
0.945
R2086
G1
195
Y
4
63550067
F102L
T
A
missense
Het
probably benign
0.001
0.073
phenotype
09/18/2014
9
230042
B430306N03Rik
0.073
R2086
G1
225
Y
17
48316782
V37D
T
A
missense
Het
probably damaging
0.999
0.647
09/18/2014
10
230021
Cacna1d
0.829
R2086
G1
225
Y
14
30047357
Y1872C
T
C
missense
Het
possibly damaging
0.830
0.082
phenotype
09/18/2014
11
229965
Carf
0.000
R2086
G1
225
Y
1
60109411
Y54N
T
A
missense
Het
probably damaging
1.000
0.494
phenotype
09/18/2014
12
230028
Cct5
1.000
R2086
G1
225
Y
15
31594203
E256G
T
C
missense
Het
probably damaging
0.999
0.919
phenotype
09/18/2014
13
230051
Cd5
0.000
R2086
G1
225
Y
19
10723256
S295P
A
G
missense
Het
probably benign
0.005
0.090
phenotype
09/18/2014
14
229970
Cenpb
0.334
R2086
G1
85
Y
2
131178597
T
C
unclassified
Het
probably benign
0.089
phenotype
09/18/2014
15
230018
Cntnap3
0.056
R2086
G1
225
Y
13
64794262
M218T
A
G
missense
Het
possibly damaging
0.757
0.174
phenotype
09/18/2014
16
230012
Colec11
0.058
R2086
G1
225
Y
12
28594787
R236H
C
T
missense
Het
probably damaging
0.985
0.316
phenotype
09/18/2014
17
230046
Crem
0.532
R2086
G1
225
Y
18
3288098
T
A
intron
Het
probably benign
phenotype
09/18/2014
18
229971
Csnk2a1
1.000
R2086
G1
225
Y
2
152254281
N58S
A
G
missense
Het
probably benign
0.007
0.126
phenotype
09/18/2014
19
229994
Cyp2a4
0.076
R2086
G1
225
Y
7
26312308
M318R
T
G
missense
Het
probably damaging
0.996
0.555
09/18/2014
20
230024
Dhrs1
0.072
R2086
G1
225
Y
14
55743659
Q98L
T
A
missense
Het
probably null
0.006
0.145
phenotype
09/18/2014
21
230016
Dnah11
0.573
R2086
G1
225
Y
12
118113871
Q1296K
G
T
missense
Het
possibly damaging
0.816
0.083
phenotype
09/18/2014
22
229987
Doxl2
0.000
R2086
G1
225
Y
6
48977602
E558G
A
G
missense
Het
probably damaging
1.000
0.738
09/18/2014
23
230001
Edc4
1.000
R2086
G1
225
Y
8
105888002
D105E
T
A
missense
Het
probably damaging
0.997
0.061
phenotype
09/18/2014
24
229995
Eid2b
0.197
R2086
G1
225
Y
7
28277773
C
T
start gained
Het
probably benign
0.121
09/18/2014
25
229983
Exoc1
1.000
R2086
G1
225
Y
5
76532846
K28*
A
T
nonsense
Het
probably null
0.976
phenotype
09/18/2014
26
229982
Fam114a1
0.000
R2086
G1
200
Y
5
64980059
D115G
A
G
missense
Het
probably benign
0.387
0.090
09/18/2014
27
229979
Fam151a
0.000
R2086
G1
221
Y
4
106735563
A
T
splice site
Het
probably null
0.897
09/18/2014
28
229984
Gc
0.000
R2086
G1
225
Y
5
89438342
Y313C
T
C
missense
Het
probably damaging
1.000
0.441
phenotype
09/18/2014
29
230011
Gdpd1
0.168
R2086
G1
225
Y
11
87035268
Y284H
A
G
missense
Het
probably benign
0.000
0.090
phenotype
09/18/2014
30
229999
Gm21957
0.313
R2086
G1
225
Y
7
125219706
T
A
exon
Het
noncoding transcript
0.087
09/18/2014
31
230017
Golm1
0.070
R2086
G1
225
Y
13
59645185
Q169*
G
A
nonsense
Het
probably null
0.975
phenotype
09/18/2014
32
230047
Greb1l
1.000
R2086
G1
162
Y
18
10523281
V813A
T
C
missense
Het
probably damaging
0.999
0.199
09/18/2014
33
230022
Itih1
0.085
R2086
G1
225
Y
14
30937843
A279T
C
T
missense
Het
probably damaging
1.000
0.574
phenotype
09/18/2014
34
229974
Kirrel
1.000
R2086
G1
225
Y
3
87089151
M380I
C
T
missense
Het
probably null
0.461
0.092
phenotype
09/18/2014
35
230045
Lama1
1.000
R2086
G1
225
Y
17
67817623
C2893R
T
C
missense
Het
probably damaging
1.000
0.955
phenotype
09/18/2014
36
230048
Lama3
1.000
R2086
G1
225
Y
18
12524830
N334K
T
A
missense
Het
probably benign
0.393
0.065
phenotype
09/18/2014
37
230049
Loxhd1
0.123
R2086
G1
225
Y
18
77384946
D1053G
A
G
missense
Het
probably damaging
0.999
0.494
phenotype
09/18/2014
38
229968
Map3k20
0.000
R2086
G1
225
Y
2
72398385
K316R
A
G
missense
Het
probably benign
0.010
0.070
phenotype
09/18/2014
39
229981
Mapre3
0.768
R2086
G1
225
Y
5
30863202
A
C
critical splice acceptor site
Het
probably null
0.949
phenotype
09/18/2014
40
229985
Mfsd7a
0.064
R2086
G1
225
Y
5
108445621
R117H
C
T
missense
Het
probably damaging
1.000
0.351
09/18/2014
41
229986
Mgam
0.165
R2086
G1
225
Y
6
40761028
T
A
splice site
Het
probably null
0.976
phenotype
09/18/2014
42
229997
Mical2
0.357
R2086
G1
214
Y
7
112318603
H389P
A
C
missense
Het
probably benign
0.309
0.457
phenotype
09/18/2014
43
230002
Mtmr2
0.270
R2086
G1
225
Y
9
13799952
D347G
A
G
missense
Het
probably damaging
1.000
0.973
phenotype
09/18/2014
44
230004
Nbeal2
0.329
R2086
G1
225
Y
9
110634071
L1309F
G
A
missense
Het
probably benign
0.085
0.090
phenotype
09/18/2014
45
230020
Nid2
0.185
R2086
G1
225
Y
14
19778043
G516S
G
A
missense
Het
probably benign
0.121
0.090
phenotype
09/18/2014
46
230005
Nodal
1.000
R2086
G1
225
Y
10
61423298
E171D
A
T
missense
Het
possibly damaging
0.759
0.179
phenotype
09/18/2014
47
229975
Notch2
1.000
R2086
G1
184
Y
3
98102367
S537P
T
C
missense
Het
probably damaging
0.997
0.190
phenotype
09/18/2014
48
229993
Obox6
0.076
R2086
G1
225
Y
7
15833607
L305S
A
G
missense
Het
probably damaging
0.998
0.647
phenotype
09/18/2014
49
230008
Obscn
0.795
R2086
G1
225
Y
11
59078256
D2715G
T
C
missense
Het
probably damaging
0.991
0.312
phenotype
09/18/2014
50
229969
Olfr154
0.185
R2086
G1
225
Y
2
85663746
S229R
A
C
missense
Het
probably benign
0.000
0.090
phenotype
09/18/2014
51
230023
Olfr728
0.186
R2086
G1
225
Y
14
50140123
N172I
T
A
missense
Het
probably damaging
1.000
0.302
phenotype
09/18/2014
52
230026
Pcca
1.000
R2086
G1
225
Y
14
122686115
S404P
T
C
missense
Het
probably damaging
0.987
0.295
phenotype
09/18/2014
53
229972
Pcdh10
0.283
R2086
G1
225
Y
3
45380471
S407P
T
C
missense
Het
probably damaging
0.983
0.115
phenotype
09/18/2014
54
229992
Plekha5
0.220
R2086
G1
225
Y
6
140570318
C
A
splice site
Het
probably null
0.976
09/18/2014
55
230019
Ptdss1
0.000
R2086
G1
225
Y
13
66953555
N72S
A
G
missense
Het
probably benign
0.004
0.090
phenotype
09/18/2014
56
230044
Ptprs
1.000
R2086
G1
225
Y
17
56454984
I43V
T
C
missense
Het
probably null
0.018
0.153
phenotype
09/18/2014
57
230050
Pygm
0.000
R2086
G1
141
Y
19
6391481
G
A
critical splice donor site
1 bp
Het
probably null
0.949
phenotype
09/18/2014
58
229989
Rab7
0.875
R2086
G1
225
Y
6
88012318
V57I
C
T
missense
Het
probably benign
0.083
0.256
phenotype
09/18/2014
59
230007
Rasl10a
0.172
R2086
G1
225
Y
11
5059431
A
G
critical splice acceptor site
Het
probably null
0.950
09/18/2014
60
229991
Rergl
0.089
R2086
G1
225
Y
6
139494834
T106A
T
C
missense
Het
probably benign
0.000
0.118
09/18/2014
61
230025
Rnf17
0.497
R2086
G1
225
Y
14
56483380
V1023G
T
G
missense
Het
probably damaging
0.980
0.558
phenotype
09/18/2014
62
229966
Rnf25
0.000
R2086
G1
225
Y
1
74593967
R409W
T
A
missense
Het
probably damaging
0.993
0.073
phenotype
09/18/2014
63
229980
Rps6ka1
0.000
R2086
G1
180
Y
4
133872969
M1V
T
C
start codon destroyed
Het
probably null
0.906
phenotype
09/18/2014
64
230014
Rps6ka5
0.000
R2086
G1
225
Y
12
100619615
T140A
T
C
missense
Het
possibly damaging
0.665
0.539
phenotype
09/18/2014
65
230006
Sbno2
0.233
R2086
G1
225
Y
10
80057856
I1204F
T
A
missense
Het
possibly damaging
0.895
0.543
phenotype
09/18/2014
66
230015
Serpina16
0.053
R2086
G1
225
Y
12
103675262
I68N
A
T
missense
Het
probably damaging
0.998
0.647
09/18/2014
67
230036
Slc35a5
0.150
R2086
G1
225
Y
16
45144265
S202P
A
G
missense
Het
probably damaging
0.992
0.754
phenotype
09/18/2014
68
230009
Slc35g3
0.062
R2086
G1
225
Y
11
69760946
S93W
G
C
missense
Het
probably damaging
1.000
0.381
09/18/2014
69
230030
Smc1b
0.737
R2086
G1
225
Y
15
85121851
A
G
splice site
Het
probably benign
0.090
phenotype
09/18/2014
70
230029
Spag1
0.731
R2086
G1
225
Y
15
36227141
L648P
T
C
missense
Het
probably damaging
0.981
0.838
phenotype
09/18/2014
71
230037
Tagap1
0.000
R2086
G1
225
N
17
6956703
D198G
T
C
missense
Het
probably benign
0.004
09/18/2014
72
230040
Tedc2
0.805
R2086
G1
225
Y
17
24217900
E287G
T
C
missense
Het
probably damaging
1.000
0.356
09/18/2014
73
229996
Tjp1
1.000
R2086
G1
225
Y
7
65312921
R1089S
C
A
missense
Het
probably damaging
0.996
0.647
phenotype
09/18/2014
74
229998
Tnrc6a
0.769
R2086
G1
120
Y
7
123162446
CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT
CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT
splice site
Het
probably benign
0.090
phenotype
09/18/2014
75
230031
Ttc38
0.071
R2086
G1
215
Y
15
85838727
D125E
T
A
missense
Het
probably benign
0.000
0.090
09/18/2014
76
229964
Uggt1
0.754
R2086
G1
225
Y
1
36192414
R490Q
C
T
missense
Het
probably null
1.000
0.616
phenotype
09/18/2014
77
229990
Uroc1
0.000
R2086
G1
225
Y
6
90344114
L224R
T
G
missense
Het
probably damaging
1.000
0.511
phenotype
09/18/2014
78
230039
Vmn1r228
0.075
R2086
G1
225
Y
17
20777193
I21N
A
T
missense
Het
possibly damaging
0.712
0.179
09/18/2014
79
230038
Vmn2r102
0.000
R2086
G1
225
Y
17
19676687
L99V
T
G
missense
Het
probably damaging
1.000
0.647
09/18/2014
80
230003
Vps13c
0.000
R2086
G1
225
Y
9
67950289
S2601F
C
T
missense
Het
probably benign
0.291
0.090
phenotype
09/18/2014
81
229976
Zfp462
0.498
R2086
G1
225
Y
4
55010830
L932P
T
C
missense
Het
probably damaging
0.998
0.864
phenotype
09/18/2014
[records 1 to 81 of 81]