Other mutations in this stock |
Total: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700066M21Rik |
A |
T |
1: 57,422,257 (GRCm39) |
Q211L |
possibly damaging |
Het |
Abca14 |
T |
A |
7: 119,917,968 (GRCm39) |
|
probably benign |
Het |
Abcb10 |
A |
T |
8: 124,685,411 (GRCm39) |
V543D |
possibly damaging |
Het |
Ankrd17 |
G |
A |
5: 90,431,057 (GRCm39) |
T909I |
probably benign |
Het |
Arhgef3 |
A |
G |
14: 27,084,799 (GRCm39) |
N76S |
probably benign |
Het |
Bbx |
A |
T |
16: 50,045,278 (GRCm39) |
C320S |
probably damaging |
Het |
Castor2 |
G |
A |
5: 134,164,482 (GRCm39) |
V148I |
possibly damaging |
Het |
Cdh23 |
C |
A |
10: 60,159,302 (GRCm39) |
V2159F |
possibly damaging |
Het |
Cmtr2 |
G |
A |
8: 110,948,136 (GRCm39) |
A149T |
probably damaging |
Het |
Cntnap4 |
A |
G |
8: 113,512,535 (GRCm39) |
|
probably benign |
Het |
Col6a3 |
A |
T |
1: 90,709,482 (GRCm39) |
F1905I |
unknown |
Het |
Ddx60 |
A |
G |
8: 62,428,866 (GRCm39) |
Y792C |
possibly damaging |
Het |
Dennd2b |
A |
G |
7: 109,124,538 (GRCm39) |
V1101A |
probably damaging |
Het |
Dock4 |
T |
C |
12: 40,775,776 (GRCm39) |
L573P |
probably damaging |
Het |
Dop1b |
A |
G |
16: 93,607,005 (GRCm39) |
I2103V |
probably benign |
Het |
Ear1 |
T |
G |
14: 44,056,504 (GRCm39) |
Q121H |
probably benign |
Het |
Eprs1 |
T |
A |
1: 185,119,321 (GRCm39) |
|
probably benign |
Het |
Ero1a |
T |
C |
14: 45,530,619 (GRCm39) |
K271R |
probably benign |
Het |
Esyt1 |
A |
G |
10: 128,348,236 (GRCm39) |
L884P |
probably damaging |
Het |
F2r |
T |
C |
13: 95,741,160 (GRCm39) |
N125S |
probably damaging |
Het |
Fam217a |
T |
C |
13: 35,095,144 (GRCm39) |
E357G |
probably damaging |
Het |
Gabbr1 |
C |
T |
17: 37,365,689 (GRCm39) |
R123W |
probably damaging |
Het |
Gimap4 |
T |
G |
6: 48,667,347 (GRCm39) |
V34G |
probably damaging |
Het |
Gm3248 |
A |
T |
14: 5,943,011 (GRCm38) |
V180E |
probably benign |
Het |
Hecw2 |
A |
T |
1: 53,972,407 (GRCm39) |
N204K |
probably damaging |
Het |
Ighv1-84 |
T |
A |
12: 115,944,549 (GRCm39) |
K42* |
probably null |
Het |
Kcnh7 |
T |
A |
2: 62,536,402 (GRCm39) |
Q1060L |
probably damaging |
Het |
Kif3b |
T |
A |
2: 153,158,868 (GRCm39) |
I223N |
probably damaging |
Het |
Lama2 |
G |
A |
10: 27,088,039 (GRCm39) |
P913S |
probably benign |
Het |
Lgr4 |
A |
G |
2: 109,832,841 (GRCm39) |
I334M |
probably damaging |
Het |
Lrrc45 |
G |
T |
11: 120,609,351 (GRCm39) |
E403D |
possibly damaging |
Het |
Mccc2 |
A |
G |
13: 100,090,747 (GRCm39) |
L462P |
probably damaging |
Het |
Mfsd13b |
T |
C |
7: 120,598,132 (GRCm39) |
V346A |
probably damaging |
Het |
Muc6 |
T |
C |
7: 141,227,763 (GRCm39) |
T1342A |
possibly damaging |
Het |
Mxd3 |
T |
C |
13: 55,477,091 (GRCm39) |
N56S |
probably benign |
Het |
Niban2 |
A |
G |
2: 32,811,135 (GRCm39) |
I382V |
probably benign |
Het |
Ntn5 |
G |
T |
7: 45,343,672 (GRCm39) |
R337L |
probably damaging |
Het |
Nynrin |
A |
G |
14: 56,105,962 (GRCm39) |
K894E |
probably benign |
Het |
Or1j4 |
G |
T |
2: 36,740,715 (GRCm39) |
G219V |
probably benign |
Het |
Or2a25 |
T |
A |
6: 42,889,272 (GRCm39) |
Y272N |
probably damaging |
Het |
Or4f56 |
A |
C |
2: 111,703,887 (GRCm39) |
S104R |
possibly damaging |
Het |
Or7e168 |
A |
T |
9: 19,719,981 (GRCm39) |
R122S |
probably damaging |
Het |
Pappa2 |
T |
C |
1: 158,542,571 (GRCm39) |
D1772G |
probably benign |
Het |
Pcdh18 |
G |
T |
3: 49,710,387 (GRCm39) |
F309L |
probably benign |
Het |
Pcdhac2 |
G |
T |
18: 37,279,006 (GRCm39) |
R662L |
probably damaging |
Het |
Ppp5c |
G |
A |
7: 16,742,555 (GRCm39) |
S261L |
possibly damaging |
Het |
Qng1 |
G |
A |
13: 58,529,749 (GRCm39) |
R288W |
probably damaging |
Het |
Rc3h1 |
T |
C |
1: 160,765,675 (GRCm39) |
|
probably benign |
Het |
Rfx8 |
A |
C |
1: 39,704,682 (GRCm39) |
S578A |
possibly damaging |
Het |
Rhbdl3 |
T |
G |
11: 80,244,507 (GRCm39) |
*405E |
probably null |
Het |
Rita1 |
C |
T |
5: 120,747,858 (GRCm39) |
A147T |
probably damaging |
Het |
Rnf139 |
G |
T |
15: 58,770,606 (GRCm39) |
L210F |
probably damaging |
Het |
Rragc |
A |
G |
4: 123,814,879 (GRCm39) |
R192G |
possibly damaging |
Het |
Ryr3 |
A |
T |
2: 112,794,701 (GRCm39) |
V137E |
probably damaging |
Het |
S100pbp |
A |
T |
4: 129,076,234 (GRCm39) |
D30E |
probably damaging |
Het |
Sppl3 |
T |
A |
5: 115,220,390 (GRCm39) |
C101S |
probably benign |
Het |
St8sia6 |
T |
C |
2: 13,728,324 (GRCm39) |
T74A |
probably benign |
Het |
Sult3a1 |
A |
G |
10: 33,742,571 (GRCm39) |
N66S |
possibly damaging |
Het |
Sv2b |
T |
A |
7: 74,773,947 (GRCm39) |
K508M |
probably damaging |
Het |
Terf1 |
T |
C |
1: 15,903,626 (GRCm39) |
S275P |
probably damaging |
Het |
Tmed8 |
G |
T |
12: 87,220,990 (GRCm39) |
H199N |
probably damaging |
Het |
Tubg2 |
A |
T |
11: 101,046,971 (GRCm39) |
Q9L |
probably damaging |
Het |
Ubxn4 |
C |
T |
1: 128,183,848 (GRCm39) |
|
probably benign |
Het |
Usp34 |
C |
T |
11: 23,417,243 (GRCm39) |
T2964I |
possibly damaging |
Het |
Zfp213 |
A |
G |
17: 23,776,945 (GRCm39) |
S366P |
possibly 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 |
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 |
R9231:Smchd1
|
UTSW |
17 |
71,672,084 (GRCm39) |
missense |
probably benign |
0.05 |
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 |
|