Other mutations in this stock |
Total: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700093K21Rik |
T |
A |
11: 23,468,066 (GRCm39) |
M76L |
probably benign |
Het |
Adrm1b |
T |
A |
3: 92,336,112 (GRCm39) |
|
probably benign |
Het |
Alg1 |
T |
A |
16: 5,053,086 (GRCm39) |
W116R |
probably benign |
Het |
Ano3 |
A |
T |
2: 110,715,340 (GRCm39) |
S33T |
probably damaging |
Het |
Atp2b2 |
T |
C |
6: 113,751,400 (GRCm39) |
E556G |
possibly damaging |
Het |
Brca2 |
T |
A |
5: 150,480,597 (GRCm39) |
I2761K |
possibly damaging |
Het |
Ccdc68 |
G |
A |
18: 70,079,577 (GRCm39) |
G141E |
probably benign |
Het |
Cckbr |
T |
C |
7: 105,083,732 (GRCm39) |
V220A |
probably damaging |
Het |
Ccnd3 |
G |
A |
17: 47,909,544 (GRCm39) |
R45Q |
probably damaging |
Het |
Cdh24 |
G |
T |
14: 54,874,832 (GRCm39) |
T391N |
probably damaging |
Het |
Cldn11 |
A |
G |
3: 31,204,395 (GRCm39) |
T33A |
probably damaging |
Het |
Clec2e |
T |
A |
6: 129,075,391 (GRCm39) |
Y50F |
probably benign |
Het |
Cntnap1 |
A |
G |
11: 101,075,944 (GRCm39) |
N943D |
probably benign |
Het |
Cspg4b |
A |
G |
13: 113,454,484 (GRCm39) |
R177G |
possibly damaging |
Het |
Dmgdh |
T |
C |
13: 93,813,665 (GRCm39) |
V70A |
probably damaging |
Het |
Gm14496 |
C |
A |
2: 181,637,674 (GRCm39) |
Y249* |
probably null |
Het |
Gmnc |
T |
A |
16: 26,781,714 (GRCm39) |
H105L |
probably damaging |
Het |
Gpt2 |
A |
G |
8: 86,219,740 (GRCm39) |
Y62C |
probably damaging |
Het |
Ift80 |
T |
C |
3: 68,838,233 (GRCm39) |
R413G |
probably damaging |
Het |
Kctd16 |
C |
A |
18: 40,392,061 (GRCm39) |
D216E |
probably damaging |
Het |
Kif26b |
T |
C |
1: 178,743,864 (GRCm39) |
V873A |
probably benign |
Het |
Klra4 |
G |
T |
6: 130,039,117 (GRCm39) |
Q92K |
probably benign |
Het |
L1td1 |
C |
A |
4: 98,626,341 (GRCm39) |
N845K |
possibly damaging |
Het |
Lama3 |
C |
T |
18: 12,605,277 (GRCm39) |
T1077I |
possibly damaging |
Het |
Loxhd1 |
T |
C |
18: 77,429,751 (GRCm39) |
I230T |
possibly damaging |
Het |
Lsg1 |
T |
C |
16: 30,399,819 (GRCm39) |
N160S |
probably damaging |
Het |
Lyzl4 |
G |
A |
9: 121,413,469 (GRCm39) |
R24C |
probably damaging |
Het |
Mib1 |
A |
G |
18: 10,794,488 (GRCm39) |
N658S |
probably benign |
Het |
Mmp8 |
T |
C |
9: 7,566,275 (GRCm39) |
I377T |
probably damaging |
Het |
Mtmr14 |
T |
C |
6: 113,238,243 (GRCm39) |
|
probably null |
Het |
Myo1c |
A |
G |
11: 75,548,414 (GRCm39) |
T58A |
possibly damaging |
Het |
Myo9a |
C |
T |
9: 59,802,527 (GRCm39) |
Q2005* |
probably null |
Het |
Neu3 |
G |
T |
7: 99,472,636 (GRCm39) |
P34T |
probably benign |
Het |
Nlrp4b |
G |
A |
7: 10,449,512 (GRCm39) |
V205I |
probably benign |
Het |
Or4b1b |
C |
T |
2: 90,112,313 (GRCm39) |
G202D |
probably damaging |
Het |
Or4k38 |
T |
C |
2: 111,165,850 (GRCm39) |
N191S |
possibly damaging |
Het |
Or5h23 |
A |
T |
16: 58,906,334 (GRCm39) |
S171T |
probably benign |
Het |
Or5t15 |
A |
G |
2: 86,681,118 (GRCm39) |
I308T |
unknown |
Het |
Or6c66 |
T |
G |
10: 129,461,319 (GRCm39) |
T204P |
probably damaging |
Het |
Or9m1 |
T |
C |
2: 87,733,691 (GRCm39) |
T110A |
probably benign |
Het |
Pcsk6 |
T |
C |
7: 65,578,933 (GRCm39) |
|
probably null |
Het |
Pik3c2a |
A |
G |
7: 116,016,893 (GRCm39) |
V288A |
probably benign |
Het |
Plcd3 |
T |
C |
11: 102,968,629 (GRCm39) |
D354G |
probably benign |
Het |
Prkdc |
C |
A |
16: 15,524,655 (GRCm39) |
N1219K |
probably benign |
Het |
Prl3d1 |
T |
A |
13: 27,278,927 (GRCm39) |
Y41N |
probably damaging |
Het |
Qrich2 |
C |
T |
11: 116,332,234 (GRCm39) |
G2321R |
probably damaging |
Het |
Rrbp1 |
T |
C |
2: 143,831,886 (GRCm39) |
I94V |
probably benign |
Het |
Serinc1 |
C |
A |
10: 57,399,262 (GRCm39) |
V214L |
probably benign |
Het |
Serpina9 |
G |
T |
12: 103,967,728 (GRCm39) |
N222K |
probably benign |
Het |
Smyd1 |
C |
T |
6: 71,239,164 (GRCm39) |
V9M |
probably damaging |
Het |
Sostdc1 |
C |
T |
12: 36,367,246 (GRCm39) |
Q141* |
probably null |
Het |
Spam1 |
C |
T |
6: 24,796,109 (GRCm39) |
T20I |
probably benign |
Het |
Tex47 |
T |
C |
5: 7,354,834 (GRCm39) |
V5A |
probably benign |
Het |
Thbs4 |
T |
C |
13: 92,912,582 (GRCm39) |
|
probably null |
Het |
Trim45 |
C |
T |
3: 100,837,257 (GRCm39) |
P531L |
probably damaging |
Het |
Tshb |
A |
T |
3: 102,685,478 (GRCm39) |
Y50* |
probably null |
Het |
Ttn |
T |
C |
2: 76,599,320 (GRCm39) |
I19230V |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
Uba6 |
G |
A |
5: 86,270,288 (GRCm39) |
T832I |
probably damaging |
Het |
Unc13d |
A |
T |
11: 115,960,579 (GRCm39) |
V497D |
probably damaging |
Het |
Usp13 |
T |
C |
3: 32,892,007 (GRCm39) |
V62A |
probably damaging |
Het |
Vmn1r215 |
A |
C |
13: 23,260,189 (GRCm39) |
L76F |
probably damaging |
Het |
Vmn1r215 |
G |
T |
13: 23,260,190 (GRCm39) |
G77C |
probably damaging |
Het |
Vmn2r5 |
T |
C |
3: 64,411,497 (GRCm39) |
D357G |
probably damaging |
Het |
Zbtb40 |
T |
C |
4: 136,722,594 (GRCm39) |
D828G |
probably damaging |
Het |
Zfp74 |
A |
T |
7: 29,633,990 (GRCm39) |
C573S |
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 |
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 |
|