Other mutations in this stock |
Total: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acacb |
A |
G |
5: 114,349,153 (GRCm39) |
Q1073R |
probably benign |
Het |
Akirin2 |
A |
G |
4: 34,551,072 (GRCm39) |
T10A |
possibly damaging |
Het |
Ankrd13a |
T |
A |
5: 114,942,295 (GRCm39) |
I526N |
probably damaging |
Het |
Ankrd28 |
A |
G |
14: 31,429,234 (GRCm39) |
V876A |
possibly damaging |
Het |
Aqp8 |
T |
A |
7: 123,061,813 (GRCm39) |
M11K |
probably benign |
Het |
Catsper3 |
T |
C |
13: 55,946,705 (GRCm39) |
I134T |
possibly damaging |
Het |
Cdk9 |
G |
T |
2: 32,598,006 (GRCm39) |
T350N |
probably benign |
Het |
Ckmt2 |
G |
T |
13: 92,011,311 (GRCm39) |
H100N |
probably damaging |
Het |
Cnnm4 |
A |
T |
1: 36,511,258 (GRCm39) |
D162V |
probably benign |
Het |
Cnppd1 |
T |
C |
1: 75,116,261 (GRCm39) |
H108R |
possibly damaging |
Het |
Col17a1 |
G |
A |
19: 47,667,861 (GRCm39) |
R139* |
probably null |
Het |
Cyp2c65 |
C |
T |
19: 39,060,661 (GRCm39) |
P174S |
possibly damaging |
Het |
Dync2li1 |
A |
G |
17: 84,935,819 (GRCm39) |
S39G |
probably null |
Het |
Ecpas |
A |
G |
4: 58,875,533 (GRCm39) |
Y144H |
probably damaging |
Het |
Eif2ak4 |
A |
G |
2: 118,271,662 (GRCm39) |
D882G |
probably benign |
Het |
Emp1 |
C |
T |
6: 135,354,276 (GRCm39) |
T23I |
probably damaging |
Het |
Epha8 |
T |
A |
4: 136,673,226 (GRCm39) |
D186V |
probably damaging |
Het |
Fam169a |
T |
G |
13: 97,254,967 (GRCm39) |
D394E |
probably benign |
Het |
Fam20b |
T |
C |
1: 156,509,084 (GRCm39) |
D376G |
probably benign |
Het |
Fgfbp3 |
C |
T |
19: 36,896,193 (GRCm39) |
A142T |
possibly damaging |
Het |
Flg2 |
C |
T |
3: 93,109,508 (GRCm39) |
S512L |
unknown |
Het |
Fras1 |
T |
A |
5: 96,692,904 (GRCm39) |
C188S |
probably damaging |
Het |
Galr2 |
T |
C |
11: 116,174,335 (GRCm39) |
C322R |
probably benign |
Het |
Gbe1 |
T |
A |
16: 70,284,989 (GRCm39) |
M437K |
possibly damaging |
Het |
Glt1d1 |
T |
A |
5: 127,754,341 (GRCm39) |
L181Q |
probably damaging |
Het |
Gpr180 |
G |
A |
14: 118,395,455 (GRCm39) |
V296I |
probably damaging |
Het |
Gucy1a1 |
C |
T |
3: 82,013,308 (GRCm39) |
E445K |
probably damaging |
Het |
H2-T24 |
T |
C |
17: 36,331,363 (GRCm39) |
D14G |
possibly damaging |
Het |
Igsf10 |
G |
A |
3: 59,243,843 (GRCm39) |
R164W |
probably damaging |
Het |
Ing5 |
T |
G |
1: 93,739,505 (GRCm39) |
D37E |
probably benign |
Het |
Kcnt1 |
A |
G |
2: 25,801,074 (GRCm39) |
T1051A |
probably benign |
Het |
Kif1b |
A |
T |
4: 149,275,652 (GRCm39) |
S1420T |
possibly damaging |
Het |
Klk15 |
C |
T |
7: 43,587,790 (GRCm39) |
H73Y |
possibly damaging |
Het |
Kmt2a |
A |
G |
9: 44,759,912 (GRCm39) |
F646L |
probably damaging |
Het |
Lrp1 |
T |
C |
10: 127,382,268 (GRCm39) |
D3731G |
probably benign |
Het |
Mif |
T |
A |
10: 75,695,370 (GRCm39) |
I97F |
probably damaging |
Het |
Mpp4 |
A |
T |
1: 59,163,833 (GRCm39) |
V507D |
probably damaging |
Het |
Mrpl1 |
C |
A |
5: 96,361,719 (GRCm39) |
N35K |
probably benign |
Het |
Naf1 |
CGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGA |
CGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGA |
8: 67,313,146 (GRCm39) |
|
probably benign |
Het |
Nat8f6 |
A |
G |
6: 85,785,630 (GRCm39) |
V173A |
probably damaging |
Het |
Ninl |
C |
T |
2: 150,792,129 (GRCm39) |
R798Q |
probably benign |
Het |
Nlgn3 |
T |
C |
X: 100,352,390 (GRCm39) |
V179A |
probably damaging |
Het |
Or10a49 |
T |
C |
7: 108,467,840 (GRCm39) |
I174V |
possibly damaging |
Het |
Or1af1 |
A |
T |
2: 37,109,989 (GRCm39) |
M163L |
possibly damaging |
Het |
Paqr8 |
A |
G |
1: 21,005,875 (GRCm39) |
H343R |
probably benign |
Het |
Parp14 |
A |
G |
16: 35,661,583 (GRCm39) |
V1455A |
probably damaging |
Het |
Parp3 |
A |
T |
9: 106,350,891 (GRCm39) |
S334T |
probably benign |
Het |
Pcbp2 |
T |
G |
15: 102,394,477 (GRCm39) |
|
probably null |
Het |
Perm1 |
A |
T |
4: 156,302,234 (GRCm39) |
E259D |
probably damaging |
Het |
Plce1 |
A |
T |
19: 38,705,040 (GRCm39) |
N815I |
probably benign |
Het |
Plxnb1 |
A |
T |
9: 108,934,286 (GRCm39) |
D838V |
possibly damaging |
Het |
Prdm12 |
A |
G |
2: 31,530,265 (GRCm39) |
D52G |
probably benign |
Het |
Rac2 |
T |
C |
15: 78,450,223 (GRCm39) |
N39S |
probably damaging |
Het |
Sugct |
T |
A |
13: 17,627,071 (GRCm39) |
T261S |
probably damaging |
Het |
Tbc1d10a |
T |
C |
11: 4,164,885 (GRCm39) |
L446P |
probably damaging |
Het |
Tcp1 |
T |
A |
17: 13,136,761 (GRCm39) |
D47E |
probably damaging |
Het |
Tenm3 |
T |
A |
8: 48,689,231 (GRCm39) |
T2119S |
probably damaging |
Het |
Tent5a |
T |
G |
9: 85,208,388 (GRCm39) |
D145A |
possibly damaging |
Het |
Tmem132b |
T |
C |
5: 125,860,531 (GRCm39) |
M592T |
probably damaging |
Het |
Trim28 |
G |
A |
7: 12,763,490 (GRCm39) |
A544T |
probably benign |
Het |
Vinac1 |
A |
T |
2: 128,879,340 (GRCm39) |
I862N |
unknown |
Het |
Washc2 |
C |
A |
6: 116,235,899 (GRCm39) |
D1123E |
probably benign |
Het |
Wee2 |
A |
G |
6: 40,440,089 (GRCm39) |
I412M |
probably damaging |
Het |
|
Other mutations in Smchd1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00162:Smchd1
|
APN |
17 |
71,772,668 (GRCm39) |
splice site |
probably benign |
|
IGL00529:Smchd1
|
APN |
17 |
71,701,794 (GRCm39) |
missense |
probably benign |
0.30 |
IGL00642:Smchd1
|
APN |
17 |
71,697,427 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00821:Smchd1
|
APN |
17 |
71,705,618 (GRCm39) |
missense |
possibly damaging |
0.92 |
IGL01330:Smchd1
|
APN |
17 |
71,743,783 (GRCm39) |
missense |
probably benign |
|
IGL01432:Smchd1
|
APN |
17 |
71,738,285 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01473:Smchd1
|
APN |
17 |
71,696,745 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01705:Smchd1
|
APN |
17 |
71,688,393 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01787:Smchd1
|
APN |
17 |
71,698,413 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01814:Smchd1
|
APN |
17 |
71,685,182 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01976:Smchd1
|
APN |
17 |
71,701,720 (GRCm39) |
nonsense |
probably null |
|
IGL01995:Smchd1
|
APN |
17 |
71,751,015 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02090:Smchd1
|
APN |
17 |
71,738,248 (GRCm39) |
missense |
possibly damaging |
0.86 |
IGL02302:Smchd1
|
APN |
17 |
71,665,128 (GRCm39) |
splice site |
probably benign |
|
IGL02309:Smchd1
|
APN |
17 |
71,750,898 (GRCm39) |
missense |
probably benign |
0.32 |
IGL02391:Smchd1
|
APN |
17 |
71,738,254 (GRCm39) |
missense |
probably null |
1.00 |
IGL02515:Smchd1
|
APN |
17 |
71,747,952 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02644:Smchd1
|
APN |
17 |
71,667,016 (GRCm39) |
splice site |
probably benign |
|
IGL03081:Smchd1
|
APN |
17 |
71,667,186 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL03212:Smchd1
|
APN |
17 |
71,750,886 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03236:Smchd1
|
APN |
17 |
71,698,425 (GRCm39) |
missense |
possibly damaging |
0.88 |
IGL03297:Smchd1
|
APN |
17 |
71,656,695 (GRCm39) |
missense |
probably benign |
0.01 |
Dry_tortugas
|
UTSW |
17 |
71,747,951 (GRCm39) |
missense |
probably damaging |
1.00 |
R0049:Smchd1
|
UTSW |
17 |
71,738,231 (GRCm39) |
missense |
probably benign |
0.01 |
R0254:Smchd1
|
UTSW |
17 |
71,718,886 (GRCm39) |
missense |
probably benign |
0.00 |
R0391:Smchd1
|
UTSW |
17 |
71,710,149 (GRCm39) |
missense |
probably damaging |
1.00 |
R0403:Smchd1
|
UTSW |
17 |
71,701,897 (GRCm39) |
missense |
probably damaging |
1.00 |
R0499:Smchd1
|
UTSW |
17 |
71,694,083 (GRCm39) |
missense |
probably benign |
|
R0520:Smchd1
|
UTSW |
17 |
71,736,538 (GRCm39) |
missense |
possibly damaging |
0.85 |
R0616:Smchd1
|
UTSW |
17 |
71,686,569 (GRCm39) |
missense |
probably benign |
0.39 |
R1120:Smchd1
|
UTSW |
17 |
71,665,141 (GRCm39) |
nonsense |
probably null |
|
R1469:Smchd1
|
UTSW |
17 |
71,656,725 (GRCm39) |
missense |
probably damaging |
1.00 |
R1469:Smchd1
|
UTSW |
17 |
71,656,725 (GRCm39) |
missense |
probably damaging |
1.00 |
R1473:Smchd1
|
UTSW |
17 |
71,668,832 (GRCm39) |
splice site |
probably benign |
|
R1484:Smchd1
|
UTSW |
17 |
71,685,252 (GRCm39) |
missense |
probably benign |
0.31 |
R1501:Smchd1
|
UTSW |
17 |
71,672,089 (GRCm39) |
missense |
possibly damaging |
0.54 |
R1718:Smchd1
|
UTSW |
17 |
71,755,828 (GRCm39) |
missense |
possibly damaging |
0.46 |
R1765:Smchd1
|
UTSW |
17 |
71,707,196 (GRCm39) |
splice site |
probably benign |
|
R1766:Smchd1
|
UTSW |
17 |
71,698,374 (GRCm39) |
missense |
probably damaging |
0.99 |
R1803:Smchd1
|
UTSW |
17 |
71,694,001 (GRCm39) |
missense |
probably damaging |
0.99 |
R1829:Smchd1
|
UTSW |
17 |
71,677,332 (GRCm39) |
missense |
probably damaging |
1.00 |
R1850:Smchd1
|
UTSW |
17 |
71,696,766 (GRCm39) |
missense |
probably damaging |
0.99 |
R1917:Smchd1
|
UTSW |
17 |
71,714,232 (GRCm39) |
missense |
possibly damaging |
0.48 |
R1918:Smchd1
|
UTSW |
17 |
71,714,232 (GRCm39) |
missense |
possibly damaging |
0.48 |
R1936:Smchd1
|
UTSW |
17 |
71,770,786 (GRCm39) |
missense |
probably damaging |
1.00 |
R2024:Smchd1
|
UTSW |
17 |
71,677,923 (GRCm39) |
missense |
probably benign |
0.15 |
R2147:Smchd1
|
UTSW |
17 |
71,705,583 (GRCm39) |
missense |
possibly damaging |
0.93 |
R2180:Smchd1
|
UTSW |
17 |
71,770,794 (GRCm39) |
missense |
probably benign |
0.23 |
R2398:Smchd1
|
UTSW |
17 |
71,733,431 (GRCm39) |
splice site |
probably benign |
|
R2398:Smchd1
|
UTSW |
17 |
71,667,136 (GRCm39) |
missense |
probably damaging |
1.00 |
R2935:Smchd1
|
UTSW |
17 |
71,718,900 (GRCm39) |
missense |
probably damaging |
1.00 |
R3000:Smchd1
|
UTSW |
17 |
71,670,033 (GRCm39) |
missense |
probably benign |
0.00 |
R3021:Smchd1
|
UTSW |
17 |
71,694,093 (GRCm39) |
missense |
possibly damaging |
0.75 |
R3808:Smchd1
|
UTSW |
17 |
71,736,536 (GRCm39) |
missense |
probably damaging |
1.00 |
R4323:Smchd1
|
UTSW |
17 |
71,735,270 (GRCm39) |
missense |
probably benign |
0.00 |
R4486:Smchd1
|
UTSW |
17 |
71,714,230 (GRCm39) |
missense |
probably benign |
0.02 |
R4487:Smchd1
|
UTSW |
17 |
71,714,230 (GRCm39) |
missense |
probably benign |
0.02 |
R4488:Smchd1
|
UTSW |
17 |
71,714,230 (GRCm39) |
missense |
probably benign |
0.02 |
R4489:Smchd1
|
UTSW |
17 |
71,714,230 (GRCm39) |
missense |
probably benign |
0.02 |
R4723:Smchd1
|
UTSW |
17 |
71,743,742 (GRCm39) |
nonsense |
probably null |
|
R4751:Smchd1
|
UTSW |
17 |
71,698,463 (GRCm39) |
missense |
probably benign |
0.01 |
R4798:Smchd1
|
UTSW |
17 |
71,667,048 (GRCm39) |
nonsense |
probably null |
|
R4814:Smchd1
|
UTSW |
17 |
71,718,763 (GRCm39) |
critical splice donor site |
probably null |
|
R4882:Smchd1
|
UTSW |
17 |
71,665,234 (GRCm39) |
intron |
probably benign |
|
R5088:Smchd1
|
UTSW |
17 |
71,738,343 (GRCm39) |
missense |
possibly damaging |
0.86 |
R5589:Smchd1
|
UTSW |
17 |
71,747,956 (GRCm39) |
missense |
probably damaging |
1.00 |
R5618:Smchd1
|
UTSW |
17 |
71,762,722 (GRCm39) |
missense |
probably damaging |
1.00 |
R5839:Smchd1
|
UTSW |
17 |
71,701,857 (GRCm39) |
missense |
probably damaging |
0.98 |
R5994:Smchd1
|
UTSW |
17 |
71,672,404 (GRCm39) |
missense |
possibly damaging |
0.89 |
R6009:Smchd1
|
UTSW |
17 |
71,747,951 (GRCm39) |
missense |
probably damaging |
1.00 |
R6042:Smchd1
|
UTSW |
17 |
71,684,052 (GRCm39) |
nonsense |
probably null |
|
R6082:Smchd1
|
UTSW |
17 |
71,656,714 (GRCm39) |
missense |
probably benign |
0.09 |
R6126:Smchd1
|
UTSW |
17 |
71,677,280 (GRCm39) |
missense |
probably damaging |
1.00 |
R6294:Smchd1
|
UTSW |
17 |
71,677,922 (GRCm39) |
missense |
probably benign |
0.13 |
R6788:Smchd1
|
UTSW |
17 |
71,782,096 (GRCm39) |
missense |
probably benign |
0.02 |
R6853:Smchd1
|
UTSW |
17 |
71,743,738 (GRCm39) |
missense |
probably damaging |
1.00 |
R6875:Smchd1
|
UTSW |
17 |
71,660,501 (GRCm39) |
missense |
probably damaging |
1.00 |
R7026:Smchd1
|
UTSW |
17 |
71,656,662 (GRCm39) |
missense |
probably benign |
|
R7045:Smchd1
|
UTSW |
17 |
71,722,039 (GRCm39) |
missense |
probably benign |
0.22 |
R7068:Smchd1
|
UTSW |
17 |
71,694,087 (GRCm39) |
missense |
probably benign |
0.00 |
R7085:Smchd1
|
UTSW |
17 |
71,672,214 (GRCm39) |
splice site |
probably null |
|
R7089:Smchd1
|
UTSW |
17 |
71,668,955 (GRCm39) |
missense |
probably benign |
0.00 |
R7145:Smchd1
|
UTSW |
17 |
71,685,202 (GRCm39) |
missense |
probably benign |
|
R7158:Smchd1
|
UTSW |
17 |
71,707,145 (GRCm39) |
missense |
probably damaging |
0.99 |
R7180:Smchd1
|
UTSW |
17 |
71,701,818 (GRCm39) |
missense |
probably damaging |
0.99 |
R7183:Smchd1
|
UTSW |
17 |
71,660,511 (GRCm39) |
missense |
probably benign |
0.00 |
R7214:Smchd1
|
UTSW |
17 |
71,652,359 (GRCm39) |
missense |
probably benign |
0.15 |
R7414:Smchd1
|
UTSW |
17 |
71,782,074 (GRCm39) |
missense |
probably damaging |
0.99 |
R7512:Smchd1
|
UTSW |
17 |
71,688,364 (GRCm39) |
missense |
possibly damaging |
0.51 |
R7631:Smchd1
|
UTSW |
17 |
71,705,684 (GRCm39) |
missense |
probably benign |
0.10 |
R7641:Smchd1
|
UTSW |
17 |
71,697,474 (GRCm39) |
missense |
probably benign |
0.00 |
R7709:Smchd1
|
UTSW |
17 |
71,665,193 (GRCm39) |
missense |
probably damaging |
1.00 |
R7768:Smchd1
|
UTSW |
17 |
71,718,906 (GRCm39) |
missense |
probably damaging |
1.00 |
R7789:Smchd1
|
UTSW |
17 |
71,782,296 (GRCm39) |
start gained |
probably benign |
|
R7898:Smchd1
|
UTSW |
17 |
71,684,813 (GRCm39) |
splice site |
probably null |
|
R7965:Smchd1
|
UTSW |
17 |
71,762,621 (GRCm39) |
missense |
possibly damaging |
0.65 |
R8177:Smchd1
|
UTSW |
17 |
71,697,448 (GRCm39) |
missense |
probably benign |
0.28 |
R8359:Smchd1
|
UTSW |
17 |
71,738,238 (GRCm39) |
missense |
probably damaging |
0.99 |
R8370:Smchd1
|
UTSW |
17 |
71,701,908 (GRCm39) |
missense |
probably benign |
0.22 |
R8426:Smchd1
|
UTSW |
17 |
71,755,598 (GRCm39) |
missense |
probably damaging |
1.00 |
R8443:Smchd1
|
UTSW |
17 |
71,714,244 (GRCm39) |
missense |
probably benign |
0.18 |
R8948:Smchd1
|
UTSW |
17 |
71,743,767 (GRCm39) |
missense |
probably damaging |
1.00 |
R8954:Smchd1
|
UTSW |
17 |
71,755,752 (GRCm39) |
missense |
probably damaging |
1.00 |
R9041:Smchd1
|
UTSW |
17 |
71,701,710 (GRCm39) |
critical splice donor site |
probably null |
|
R9054:Smchd1
|
UTSW |
17 |
71,670,017 (GRCm39) |
nonsense |
probably null |
|
R9141:Smchd1
|
UTSW |
17 |
71,672,125 (GRCm39) |
missense |
probably benign |
0.00 |
R9169:Smchd1
|
UTSW |
17 |
71,722,659 (GRCm39) |
missense |
probably damaging |
1.00 |
R9368:Smchd1
|
UTSW |
17 |
71,694,071 (GRCm39) |
missense |
probably damaging |
1.00 |
R9374:Smchd1
|
UTSW |
17 |
71,718,843 (GRCm39) |
missense |
possibly damaging |
0.61 |
R9416:Smchd1
|
UTSW |
17 |
71,701,791 (GRCm39) |
missense |
probably benign |
0.27 |
R9426:Smchd1
|
UTSW |
17 |
71,672,125 (GRCm39) |
missense |
probably benign |
0.00 |
R9491:Smchd1
|
UTSW |
17 |
71,667,020 (GRCm39) |
critical splice donor site |
probably null |
|
R9511:Smchd1
|
UTSW |
17 |
71,750,899 (GRCm39) |
missense |
possibly damaging |
0.65 |
R9591:Smchd1
|
UTSW |
17 |
71,701,828 (GRCm39) |
missense |
probably damaging |
1.00 |
R9593:Smchd1
|
UTSW |
17 |
71,701,828 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Smchd1
|
UTSW |
17 |
71,668,836 (GRCm39) |
missense |
probably null |
1.00 |
|