Other mutations in this stock |
Total: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahctf1 |
A |
T |
1: 179,580,199 (GRCm39) |
V2001E |
probably benign |
Het |
Ahsg |
A |
G |
16: 22,713,585 (GRCm39) |
D122G |
probably benign |
Het |
Ank3 |
A |
G |
10: 69,840,553 (GRCm39) |
Y1616C |
probably damaging |
Het |
Arhgef1 |
A |
G |
7: 24,619,205 (GRCm39) |
|
probably null |
Het |
Atp7b |
T |
C |
8: 22,494,391 (GRCm39) |
I1023V |
probably benign |
Het |
Bod1l |
A |
T |
5: 41,979,216 (GRCm39) |
Y699* |
probably null |
Het |
Car12 |
C |
T |
9: 66,659,244 (GRCm39) |
S183L |
probably damaging |
Het |
Cep290 |
T |
C |
10: 100,324,490 (GRCm39) |
S57P |
probably damaging |
Het |
Cep57l1 |
T |
C |
10: 41,619,145 (GRCm39) |
D74G |
probably damaging |
Het |
Cers6 |
T |
C |
2: 68,938,903 (GRCm39) |
Y374H |
possibly damaging |
Het |
Chmp4c |
T |
A |
3: 10,432,195 (GRCm39) |
M35K |
possibly damaging |
Het |
Crkl |
G |
A |
16: 17,301,645 (GRCm39) |
D300N |
probably damaging |
Het |
Cyp3a41a |
A |
G |
5: 145,642,639 (GRCm39) |
M240T |
probably benign |
Het |
Dipk2a |
C |
T |
9: 94,406,502 (GRCm39) |
V302I |
probably benign |
Het |
Dnah12 |
G |
T |
14: 26,523,470 (GRCm39) |
L1986F |
probably damaging |
Het |
Dnah8 |
T |
C |
17: 30,867,439 (GRCm39) |
I297T |
probably benign |
Het |
Dock10 |
T |
A |
1: 80,508,962 (GRCm39) |
I1610F |
probably damaging |
Het |
Dpys |
T |
A |
15: 39,720,559 (GRCm39) |
H67L |
probably damaging |
Het |
Epc2 |
T |
G |
2: 49,422,099 (GRCm39) |
V331G |
probably benign |
Het |
Fnbp1l |
G |
A |
3: 122,339,956 (GRCm39) |
R344* |
probably null |
Het |
Gmip |
G |
T |
8: 70,263,824 (GRCm39) |
L89F |
possibly damaging |
Het |
Gmip |
G |
C |
8: 70,263,826 (GRCm39) |
R90P |
probably damaging |
Het |
Gpi1 |
A |
G |
7: 33,928,415 (GRCm39) |
S74P |
probably damaging |
Het |
Gys1 |
G |
A |
7: 45,094,102 (GRCm39) |
E406K |
probably damaging |
Het |
Hspg2 |
G |
A |
4: 137,242,618 (GRCm39) |
G611E |
probably damaging |
Het |
Klhl29 |
C |
T |
12: 5,134,393 (GRCm39) |
V673M |
probably damaging |
Het |
Lnpk |
T |
C |
2: 74,360,020 (GRCm39) |
T332A |
probably benign |
Het |
Loxl4 |
T |
C |
19: 42,596,792 (GRCm39) |
D60G |
probably damaging |
Het |
Lrr1 |
T |
C |
12: 69,221,449 (GRCm39) |
I197T |
probably damaging |
Het |
Map1lc3b |
A |
G |
8: 122,320,316 (GRCm39) |
N43S |
probably benign |
Het |
Map3k21 |
A |
T |
8: 126,666,605 (GRCm39) |
D599V |
probably benign |
Het |
Mastl |
T |
C |
2: 23,023,710 (GRCm39) |
N338D |
probably benign |
Het |
Mepe |
A |
T |
5: 104,486,074 (GRCm39) |
R405* |
probably null |
Het |
Mrps30 |
T |
C |
13: 118,516,908 (GRCm39) |
E437G |
probably benign |
Het |
Mup15 |
A |
G |
4: 61,356,465 (GRCm39) |
V100A |
possibly damaging |
Het |
Olfml1 |
A |
T |
7: 107,167,075 (GRCm39) |
I35F |
probably damaging |
Het |
Olfml2a |
T |
A |
2: 38,850,238 (GRCm39) |
Y651* |
probably null |
Het |
Or2h1b |
T |
A |
17: 37,462,713 (GRCm39) |
D50V |
probably damaging |
Het |
Otog |
T |
C |
7: 45,947,741 (GRCm39) |
V113A |
probably damaging |
Het |
Parvg |
C |
T |
15: 84,210,464 (GRCm39) |
L44F |
possibly damaging |
Het |
Pcnx2 |
G |
T |
8: 126,498,839 (GRCm39) |
D1553E |
probably damaging |
Het |
Pcyt2 |
C |
T |
11: 120,505,200 (GRCm39) |
G122S |
probably damaging |
Het |
Pi4ka |
A |
G |
16: 17,194,846 (GRCm39) |
L184P |
possibly damaging |
Het |
Polq |
C |
T |
16: 36,897,510 (GRCm39) |
T2134I |
probably damaging |
Het |
Prkce |
T |
G |
17: 86,937,489 (GRCm39) |
F641V |
probably damaging |
Het |
Prss1 |
T |
C |
6: 41,440,654 (GRCm39) |
I243T |
possibly damaging |
Het |
Pxmp2 |
A |
G |
5: 110,429,185 (GRCm39) |
F91L |
probably benign |
Het |
Ralgapb |
G |
A |
2: 158,278,486 (GRCm39) |
G5R |
probably damaging |
Het |
Rasgef1a |
T |
G |
6: 118,064,174 (GRCm39) |
M337R |
possibly damaging |
Het |
Rassf2 |
A |
G |
2: 131,844,845 (GRCm39) |
M199T |
probably damaging |
Het |
Rtbdn |
A |
T |
8: 85,679,303 (GRCm39) |
Y67F |
probably null |
Het |
Scamp3 |
T |
C |
3: 89,089,256 (GRCm39) |
V271A |
probably benign |
Het |
Sema3a |
A |
T |
5: 13,647,584 (GRCm39) |
R613W |
possibly damaging |
Het |
Slc4a3 |
A |
T |
1: 75,527,959 (GRCm39) |
I206F |
probably damaging |
Het |
Slc9b1 |
A |
G |
3: 135,063,518 (GRCm39) |
|
probably null |
Het |
Smg1 |
A |
G |
7: 117,783,794 (GRCm39) |
|
probably benign |
Het |
Spaca7b |
T |
C |
8: 11,728,584 (GRCm39) |
E29G |
possibly damaging |
Het |
Spata31e4 |
A |
C |
13: 50,857,131 (GRCm39) |
H923P |
probably damaging |
Het |
Stab1 |
A |
G |
14: 30,861,117 (GRCm39) |
L89P |
probably damaging |
Het |
Stim1 |
A |
G |
7: 102,076,498 (GRCm39) |
E152G |
probably damaging |
Het |
Tenm3 |
A |
G |
8: 49,127,528 (GRCm39) |
F50S |
probably damaging |
Het |
Tpgs2 |
T |
G |
18: 25,262,927 (GRCm39) |
N231H |
probably benign |
Het |
Trank1 |
T |
A |
9: 111,219,747 (GRCm39) |
N2161K |
probably damaging |
Het |
Trim28 |
A |
G |
7: 12,759,273 (GRCm39) |
D129G |
probably benign |
Het |
Trim66 |
A |
T |
7: 109,076,961 (GRCm39) |
I326N |
probably damaging |
Het |
Trim80 |
A |
T |
11: 115,338,843 (GRCm39) |
T558S |
probably benign |
Het |
Uggt1 |
T |
A |
1: 36,269,769 (GRCm39) |
T83S |
probably benign |
Het |
Wdr91 |
A |
G |
6: 34,863,754 (GRCm39) |
I587T |
probably damaging |
Het |
Zpld1 |
A |
T |
16: 55,052,603 (GRCm39) |
V337D |
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 |
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 |
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 |
|