Other mutations in this stock |
Total: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc2 |
A |
T |
19: 43,805,392 (GRCm39) |
M749L |
probably benign |
Het |
Abcc2 |
A |
G |
19: 43,818,974 (GRCm39) |
N1321S |
probably benign |
Het |
Acsm2 |
T |
A |
7: 119,191,450 (GRCm39) |
V506E |
probably damaging |
Het |
Add2 |
G |
A |
6: 86,063,965 (GRCm39) |
R88Q |
probably benign |
Het |
Adgra3 |
A |
G |
5: 50,118,083 (GRCm39) |
V1155A |
probably benign |
Het |
Ahsg |
T |
A |
16: 22,710,963 (GRCm39) |
D33E |
probably damaging |
Het |
Alox12b |
A |
T |
11: 69,048,131 (GRCm39) |
D20V |
possibly damaging |
Het |
Alppl2 |
A |
G |
1: 87,017,420 (GRCm39) |
|
probably null |
Het |
Ankfn1 |
A |
G |
11: 89,530,403 (GRCm39) |
*49Q |
probably null |
Het |
Bcl11b |
T |
C |
12: 107,882,851 (GRCm39) |
D488G |
probably damaging |
Het |
Bcl2l10 |
T |
A |
9: 75,258,364 (GRCm39) |
F175L |
probably benign |
Het |
C2cd3 |
T |
A |
7: 100,081,299 (GRCm39) |
D127E |
probably damaging |
Het |
Cacna1c |
C |
T |
6: 118,614,732 (GRCm39) |
V1311I |
probably damaging |
Het |
Cd55b |
A |
T |
1: 130,316,427 (GRCm39) |
I374K |
probably benign |
Het |
Cfap36 |
T |
C |
11: 29,172,565 (GRCm39) |
T267A |
probably benign |
Het |
Cibar2 |
G |
A |
8: 120,895,324 (GRCm39) |
H193Y |
probably damaging |
Het |
Cog1 |
T |
C |
11: 113,540,415 (GRCm39) |
L10P |
probably damaging |
Het |
Dnah7a |
T |
A |
1: 53,543,448 (GRCm39) |
M2241L |
probably benign |
Het |
Dock10 |
G |
T |
1: 80,479,504 (GRCm39) |
A1809E |
probably benign |
Het |
Dock7 |
A |
T |
4: 98,967,156 (GRCm39) |
D255E |
probably benign |
Het |
Exph5 |
T |
C |
9: 53,251,728 (GRCm39) |
F123L |
probably benign |
Het |
Fbxw27 |
C |
A |
9: 109,617,146 (GRCm39) |
K118N |
possibly damaging |
Het |
Fscb |
C |
A |
12: 64,518,391 (GRCm39) |
S1025I |
unknown |
Het |
Get4 |
C |
T |
5: 139,238,358 (GRCm39) |
R47W |
possibly damaging |
Het |
Gm3676 |
G |
A |
14: 41,366,072 (GRCm39) |
S81F |
probably benign |
Het |
Gulp1 |
C |
T |
1: 44,820,245 (GRCm39) |
P251S |
possibly damaging |
Het |
Hhatl |
T |
C |
9: 121,617,339 (GRCm39) |
D298G |
probably benign |
Het |
Hsf2bp |
T |
A |
17: 32,252,254 (GRCm39) |
K60N |
possibly damaging |
Het |
Ints4 |
T |
A |
7: 97,168,361 (GRCm39) |
V625D |
possibly damaging |
Het |
Iqch |
T |
A |
9: 63,432,421 (GRCm39) |
K286* |
probably null |
Het |
Irak1bp1 |
T |
A |
9: 82,712,084 (GRCm39) |
S2T |
possibly damaging |
Het |
Kdm3b |
G |
A |
18: 34,955,517 (GRCm39) |
V1135I |
possibly damaging |
Het |
Lama3 |
C |
A |
18: 12,649,605 (GRCm39) |
N181K |
probably damaging |
Het |
Lrfn2 |
T |
G |
17: 49,404,005 (GRCm39) |
S709R |
probably benign |
Het |
Lrp12 |
T |
C |
15: 39,743,566 (GRCm39) |
H123R |
probably damaging |
Het |
Lrp1b |
A |
G |
2: 41,159,234 (GRCm39) |
S1569P |
probably damaging |
Het |
Lrp2 |
T |
G |
2: 69,352,131 (GRCm39) |
Q635P |
probably damaging |
Het |
Mboat2 |
T |
C |
12: 24,998,381 (GRCm39) |
|
probably null |
Het |
Mctp1 |
A |
G |
13: 76,954,378 (GRCm39) |
T596A |
probably benign |
Het |
Mroh9 |
T |
A |
1: 162,888,251 (GRCm39) |
M275L |
probably benign |
Het |
Ms4a10 |
A |
C |
19: 10,944,869 (GRCm39) |
|
probably null |
Het |
Myo9a |
C |
T |
9: 59,722,617 (GRCm39) |
R560C |
probably damaging |
Het |
Or11h4b |
A |
G |
14: 50,918,716 (GRCm39) |
I125T |
probably damaging |
Het |
Or5b107 |
A |
G |
19: 13,142,779 (GRCm39) |
T134A |
probably benign |
Het |
Or6z1 |
T |
A |
7: 6,504,820 (GRCm39) |
H135L |
probably damaging |
Het |
Ormdl3 |
A |
G |
11: 98,474,808 (GRCm39) |
V45A |
possibly damaging |
Het |
Parp4 |
T |
C |
14: 56,858,049 (GRCm39) |
Y894H |
probably benign |
Het |
Pigo |
G |
A |
4: 43,023,380 (GRCm39) |
Q259* |
probably null |
Het |
Prrc2a |
G |
A |
17: 35,380,803 (GRCm39) |
P70S |
unknown |
Het |
Rab3ip |
A |
G |
10: 116,773,441 (GRCm39) |
I124T |
probably benign |
Het |
Rap1b |
A |
G |
10: 117,654,384 (GRCm39) |
I21T |
probably benign |
Het |
Rasgrf2 |
T |
A |
13: 92,131,732 (GRCm39) |
S642C |
probably damaging |
Het |
Rb1 |
T |
C |
14: 73,535,539 (GRCm39) |
E106G |
probably benign |
Het |
Reps1 |
C |
A |
10: 17,983,437 (GRCm39) |
R427S |
probably damaging |
Het |
Rnf213 |
A |
C |
11: 119,370,481 (GRCm39) |
H4760P |
possibly damaging |
Het |
Rtl1 |
A |
G |
12: 109,559,595 (GRCm39) |
I748T |
probably damaging |
Het |
Sco1 |
A |
T |
11: 66,944,683 (GRCm39) |
K102M |
probably damaging |
Het |
Sec16b |
T |
C |
1: 157,362,281 (GRCm39) |
M44T |
possibly damaging |
Het |
Slc7a10 |
T |
C |
7: 34,898,139 (GRCm39) |
M297T |
probably damaging |
Het |
Sowaha |
G |
A |
11: 53,370,050 (GRCm39) |
R229W |
probably damaging |
Het |
Sptlc3 |
A |
T |
2: 139,379,608 (GRCm39) |
M83L |
probably benign |
Het |
Tbc1d9 |
T |
C |
8: 83,968,192 (GRCm39) |
V431A |
probably benign |
Het |
Tmem98 |
A |
G |
11: 80,712,214 (GRCm39) |
E217G |
possibly damaging |
Het |
Trim13 |
T |
A |
14: 61,842,562 (GRCm39) |
L193* |
probably null |
Het |
Trp53bp2 |
T |
C |
1: 182,270,300 (GRCm39) |
S367P |
probably benign |
Het |
Tsc2 |
T |
G |
17: 24,845,713 (GRCm39) |
I202L |
probably damaging |
Het |
Twf2 |
T |
A |
9: 106,092,079 (GRCm39) |
V312E |
probably damaging |
Het |
Usp34 |
G |
T |
11: 23,311,622 (GRCm39) |
L471F |
probably damaging |
Het |
Vps37c |
A |
G |
19: 10,683,632 (GRCm39) |
D18G |
probably damaging |
Het |
Zfp1010 |
T |
A |
2: 176,957,361 (GRCm39) |
I46F |
probably benign |
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 |
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 |
|