Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atp13a5 |
T |
C |
16: 29,135,542 (GRCm39) |
Y350C |
probably damaging |
Het |
Clca3a1 |
C |
T |
3: 144,713,539 (GRCm39) |
M697I |
probably benign |
Het |
Clcn1 |
C |
A |
6: 42,268,637 (GRCm39) |
A181D |
probably damaging |
Het |
Cylc1 |
G |
T |
X: 110,166,449 (GRCm39) |
K243N |
unknown |
Het |
Dsp |
A |
G |
13: 38,351,547 (GRCm39) |
Y122C |
probably damaging |
Het |
Exoc5 |
A |
G |
14: 49,251,751 (GRCm39) |
V665A |
possibly damaging |
Het |
Fcho1 |
G |
A |
8: 72,164,782 (GRCm39) |
P500S |
probably benign |
Het |
Flg2 |
A |
G |
3: 93,110,327 (GRCm39) |
E785G |
unknown |
Het |
Fpr1 |
A |
G |
17: 18,097,954 (GRCm39) |
S12P |
possibly damaging |
Het |
Hydin |
G |
T |
8: 111,081,585 (GRCm39) |
G327V |
probably damaging |
Het |
Hydin |
A |
T |
8: 111,038,792 (GRCm39) |
M177L |
probably benign |
Het |
Itga10 |
G |
A |
3: 96,554,957 (GRCm39) |
G97E |
probably damaging |
Het |
Khdc1c |
T |
A |
1: 21,439,130 (GRCm39) |
Y39N |
possibly damaging |
Het |
Lrp1b |
T |
G |
2: 40,501,498 (GRCm39) |
T202P |
probably damaging |
Het |
Marchf10 |
T |
C |
11: 105,280,431 (GRCm39) |
K618R |
probably damaging |
Het |
Mdc1 |
C |
A |
17: 36,158,912 (GRCm39) |
L431I |
probably benign |
Het |
Mmp17 |
A |
G |
5: 129,683,472 (GRCm39) |
D536G |
probably benign |
Het |
Myh8 |
G |
A |
11: 67,192,651 (GRCm39) |
|
probably null |
Het |
Odad3 |
C |
A |
9: 21,906,675 (GRCm39) |
|
probably null |
Het |
Pop4 |
A |
G |
7: 37,963,820 (GRCm39) |
V154A |
probably benign |
Het |
Ppp1r13l |
C |
T |
7: 19,109,193 (GRCm39) |
R608C |
probably damaging |
Het |
Prss36 |
T |
C |
7: 127,543,873 (GRCm39) |
H166R |
probably damaging |
Het |
Rab11fip3 |
C |
T |
17: 26,287,709 (GRCm39) |
R148Q |
possibly damaging |
Het |
Rbm39 |
T |
A |
2: 156,014,899 (GRCm39) |
R49* |
probably null |
Het |
S100a11 |
T |
C |
3: 93,433,413 (GRCm39) |
C86R |
probably damaging |
Het |
Skint7 |
T |
C |
4: 111,839,402 (GRCm39) |
I232T |
probably damaging |
Het |
Speg |
C |
T |
1: 75,404,929 (GRCm39) |
T2907I |
possibly damaging |
Het |
Spz1 |
A |
T |
13: 92,711,764 (GRCm39) |
C237* |
probably null |
Het |
Sun3 |
G |
T |
11: 8,979,394 (GRCm39) |
D42E |
probably benign |
Het |
Tgds |
C |
T |
14: 118,365,626 (GRCm39) |
|
probably benign |
Het |
Tnxb |
G |
A |
17: 34,904,675 (GRCm39) |
D1270N |
probably damaging |
Het |
Vmn2r78 |
A |
C |
7: 86,569,520 (GRCm39) |
T138P |
possibly damaging |
Het |
Wdfy1 |
T |
C |
1: 79,685,182 (GRCm39) |
I351V |
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 |
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 |
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 |
|