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Incidental Mutations
54
incidental mutations are currently displayed, and affect
54
genes.
11
are Possibly Damaging.
20
are Probably Damaging.
15
are Probably Benign.
6
are Probably Null.
2
create premature stop codons.
1
are critical splice junction mutations.
Mutations in Coding Regions/Splice Sites Identified by Next-Gen Sequencing
[records 1 to 54 of 54]
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
489870
Abca16
0.000
R6161
G1
225.01
Y
7
120540711 (GRCm38)
K1533M
A
T
missense
Het
probably damaging
0.998
0.647
2017-10-10
2
489879
Aldh1l2
0.000
R6161
G1
225.01
Y
10
83520338 (GRCm38)
V63I
C
T
missense
Het
probably benign
0.003
0.130
phenotype
2017-10-10
3
489876
Atr
1.000
R6161
G1
225.01
Y
9
95865319 (GRCm38)
H218R
A
G
missense
Het
probably benign
0.000
0.090
phenotype
2017-10-10
4
489885
Atxn7l1
0.143
R6161
G1
225.01
Y
12
33358663 (GRCm38)
S275T
T
A
missense
Het
possibly damaging
0.615
2017-10-10
5
489864
Cacna1c
0.377
R6161
G1
225.01
Y
6
119057302 (GRCm38)
K88R
T
C
missense
Het
probably damaging
0.999
phenotype
2017-10-10
6
489884
Ccl7
0.054
R6161
G1
225.01
Y
11
82046586 (GRCm38)
Y49H
T
C
missense
Het
probably damaging
1.000
0.703
phenotype
2017-10-10
7
489865
Cd3eap
1.000
R6161
G1
225.01
Y
7
19357633 (GRCm38)
T183I
G
A
missense
Het
possibly damaging
0.619
2017-10-10
8
489893
Cers5
0.000
R6161
G1
225.01
Y
15
99738663 (GRCm38)
A
G
critical splice donor site
2 bp
Het
probably null
0.971
phenotype
2017-10-10
9
489900
Chuk
1.000
R6161
G1
225.01
Y
19
44082637 (GRCm38)
E543G
T
C
missense
Het
probably damaging
1.000
phenotype
2017-10-10
10
489886
Dip2c
0.744
R6161
G1
225.01
Y
13
9647007 (GRCm38)
V1318A
T
C
missense
Het
probably damaging
1.000
0.199
phenotype
2017-10-10
11
489848
Ercc5
1.000
R6161
G1
225.01
Y
1
44167352 (GRCm38)
H475R
A
G
missense
Het
probably benign
0.001
phenotype
2017-10-10
12
489872
Fat3
0.506
R6161
G1
225.01
Y
9
16377522 (GRCm38)
L235P
A
G
missense
Het
probably damaging
1.000
phenotype
2017-10-10
13
489858
Fbn1
0.914
R6161
G1
179.01
Y
2
125369801 (GRCm38)
C892*
A
T
nonsense
Het
probably null
phenotype
2017-10-10
14
489863
Fbxw8
0.603
R6161
G1
225.01
Y
5
118092675 (GRCm38)
T354A
T
C
missense
Het
possibly damaging
0.939
0.124
phenotype
2017-10-10
15
489857
Fsip2
0.076
R6161
G1
225.01
Y
2
82987257 (GRCm38)
T4445P
A
C
missense
Het
possibly damaging
0.804
phenotype
2017-10-10
16
489887
Gpld1
0.000
R6161
G1
187.01
Y
13
24971414 (GRCm38)
Q344L
A
T
missense
Het
probably benign
0.001
0.090
phenotype
2017-10-10
17
489859
Hao1
0.061
R6161
G1
225.01
Y
2
134505625 (GRCm38)
D253E
A
T
missense
Het
probably benign
0.063
phenotype
2017-10-10
18
489856
Hmcn2
0.000
R6161
G1
225.01
Y
2
31356254 (GRCm38)
D745G
A
G
missense
Het
probably benign
0.000
2017-10-10
19
489854
Kcnt1
0.158
R6161
G1
225.01
Y
2
25903385 (GRCm38)
T658A
A
G
missense
Het
probably benign
0.001
phenotype
2017-10-10
20
489868
Klhl35
0.086
R6161
G1
225.01
Y
7
99473337 (GRCm38)
A
G
unclassified
Het
probably benign
2017-10-10
21
501893
Lnx2
0.123
R6161
G1
225.01
Y
5
147042026 (GRCm38)
C
T
splice site
5 bp
Het
probably null
2017-12-04
22
489878
Map3k5
0.000
R6161
G1
225.01
Y
10
20000575 (GRCm38)
V160A
T
C
missense
Het
probably damaging
0.977
phenotype
2017-10-10
23
489861
Masp2
0.167
R6161
G1
225.01
Y
4
148614012 (GRCm38)
I517F
A
T
missense
Het
possibly damaging
0.881
phenotype
2017-10-10
24
489898
Mc4r
0.093
R6161
G1
225.01
Y
18
66859180 (GRCm38)
Y287*
A
T
nonsense
Het
probably null
0.972
phenotype
2017-10-10
25
489860
Mthfr
0.752
R6161
G1
225.01
Y
4
148041754 (GRCm38)
D94G
A
G
missense
Het
probably benign
0.351
phenotype
2017-10-10
26
489873
Muc16
0.114
R6161
G1
225.01
Y
9
18647818 (GRCm38)
I2393T
A
G
missense
Het
unknown
phenotype
2017-10-10
27
489882
Mybbp1a
1.000
R6161
G1
225.01
Y
11
72446012 (GRCm38)
V557L
G
T
missense
Het
probably damaging
1.000
0.630
phenotype
2017-10-10
28
489889
Mycbp2
1.000
R6161
G1
225.01
Y
14
103298747 (GRCm38)
W256R
A
T
missense
Het
probably damaging
0.997
0.121
phenotype
2017-10-10
29
489881
Nacad
0.000
R6161
G1
225.01
Y
11
6600902 (GRCm38)
S763L
G
A
missense
Het
probably benign
0.000
0.090
2017-10-10
30
489853
Nebl
0.000
R6161
G1
225.01
Y
2
17730830 (GRCm38)
V11A
A
G
missense
Het
probably benign
0.264
2017-10-10
31
489855
Notch1
1.000
R6161
G1
135.01
Y
2
26468731 (GRCm38)
C1363S
A
T
missense
Het
probably damaging
1.000
phenotype
2017-10-10
32
489877
Nphp3
1.000
R6161
G1
225.01
Y
9
104031906 (GRCm38)
N772D
A
G
missense
Het
probably benign
0.109
0.089
phenotype
2017-10-10
33
489888
Nqo2
0.098
R6161
G1
225.01
Y
13
33979651 (GRCm38)
V98M
G
A
missense
Het
probably damaging
0.994
0.409
phenotype
2017-10-10
34
489867
Pak4
1.000
R6161
G1
137.01
Y
7
28565267 (GRCm38)
I70T
A
G
missense
Het
possibly damaging
0.948
0.125
phenotype
2017-10-10
35
489894
Pbx2
0.000
R6161
G1
225.01
Y
17
34593600 (GRCm38)
K2E
A
G
missense
Het
probably damaging
1.000
phenotype
2017-10-10
36
489851
Pikfyve
1.000
R6161
G1
225.01
Y
1
65216043 (GRCm38)
T352A
A
G
missense
Het
probably benign
0.364
0.059
phenotype
2017-10-10
37
489890
Pop1
0.958
R6161
G1
225.01
Y
15
34526310 (GRCm38)
Y684H
T
C
missense
Het
probably damaging
0.997
phenotype
2017-10-10
38
489883
Rpa1
1.000
R6161
G1
225.01
Y
11
75314895 (GRCm38)
V212A
A
G
missense
Het
probably damaging
1.000
0.799
phenotype
2017-10-10
39
489862
Rpap2
1.000
R6161
G1
225.01
Y
5
107620670 (GRCm38)
E458G
A
G
missense
Het
probably damaging
1.000
2017-10-10
40
489874
Sin3a
1.000
R6161
G1
225.01
Y
9
57095424 (GRCm38)
V200A
T
C
missense
Het
possibly damaging
0.481
phenotype
2017-10-10
41
489891
Sla
0.000
R6161
G1
225.01
Y
15
66782598 (GRCm38)
T280A
T
C
missense
Het
probably null
0.032
phenotype
2017-10-10
42
489899
Slc22a26
0.049
R6161
G1
225.01
Y
19
7786447 (GRCm38)
I406K
A
T
missense
Het
possibly damaging
0.495
2017-10-10
43
489875
Slc24a1
0.106
R6161
G1
225.01
Y
9
64937263 (GRCm38)
N606S
T
C
missense
Het
unknown
phenotype
2017-10-10
44
489849
Slc39a10
0.672
R6161
G1
225.01
Y
1
46827407 (GRCm38)
T443M
G
A
missense
Het
probably damaging
1.000
0.647
phenotype
2017-10-10
45
489869
Smg1
1.000
R6161
G1
225.01
Y
7
118163330 (GRCm38)
A
T
utr 3 prime
Het
probably benign
0.783
phenotype
2017-10-10
46
489897
Sra1
0.000
R6161
G1
190.01
Y
18
36670283 (GRCm38)
A9V
G
A
missense
Het
probably damaging
0.994
0.343
phenotype
2017-10-10
47
489895
Stard4
0.000
R6161
G1
225.01
Y
18
33209056 (GRCm38)
V47A
A
G
missense
Het
probably damaging
0.994
0.071
phenotype
2017-10-10
48
489850
Stat4
0.398
R6161
G1
225.01
Y
1
52074677 (GRCm38)
D182V
A
T
missense
Het
possibly damaging
0.939
phenotype
2017-10-10
49
489880
Syt1
1.000
R6161
G1
225.01
Y
10
108631807 (GRCm38)
F210L
A
G
missense
Het
probably damaging
1.000
phenotype
2017-10-10
50
501892
Ube2q1
0.223
R6161
G1
108.01
Y
3
89781360 (GRCm38)
T
A
splice site
Het
probably null
phenotype
2017-12-04
51
489866
Vmn1r159
R6161
G1
128.01
N
7
22843187 (GRCm38)
C140Y
C
T
missense
Het
possibly damaging
0.635
2017-10-10
52
489896
Wnt8a
0.000
R6161
G1
225.01
Y
18
34545546 (GRCm38)
F138L
T
C
missense
Het
possibly damaging
0.857
0.747
phenotype
2017-10-10
53
489892
Zfp623
0.446
R6161
G1
225.01
Y
15
75948621 (GRCm38)
D475E
T
A
missense
Het
probably benign
0.218
2017-10-10
54
489871
Zfp646
0.199
R6161
G1
200.01
Y
7
127878725 (GRCm38)
R25W
C
T
missense
Het
probably damaging
0.999
0.196
2017-10-10
[records 1 to 54 of 54]