Other mutations in this stock |
Total: 79 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acnat2 |
A |
C |
4: 49,381,803 (GRCm39) |
Y196* |
probably null |
Het |
Agrn |
C |
T |
4: 156,256,296 (GRCm39) |
R1405H |
probably benign |
Het |
Agtpbp1 |
G |
A |
13: 59,613,852 (GRCm39) |
H1030Y |
probably benign |
Het |
Ankrd37 |
C |
T |
8: 46,452,891 (GRCm39) |
|
probably benign |
Het |
Ap1g2 |
G |
C |
14: 55,341,908 (GRCm39) |
P218R |
probably damaging |
Het |
Ap2a1 |
C |
T |
7: 44,573,228 (GRCm39) |
|
probably null |
Het |
Apc2 |
T |
A |
10: 80,146,990 (GRCm39) |
D681E |
possibly damaging |
Het |
Arhgef5 |
T |
A |
6: 43,252,142 (GRCm39) |
N964K |
possibly damaging |
Het |
BC028528 |
CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT |
CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT |
3: 95,795,448 (GRCm39) |
|
probably benign |
Het |
Ccnf |
T |
A |
17: 24,442,889 (GRCm39) |
M773L |
probably benign |
Het |
Ces1e |
A |
C |
8: 93,941,772 (GRCm39) |
S234A |
probably damaging |
Het |
Ces1g |
T |
A |
8: 94,029,576 (GRCm39) |
E552V |
probably benign |
Het |
Ctcfl |
A |
T |
2: 172,947,770 (GRCm39) |
|
probably null |
Het |
Dkk2 |
T |
A |
3: 131,791,953 (GRCm39) |
S54T |
probably damaging |
Het |
Dll1 |
A |
G |
17: 15,595,131 (GRCm39) |
S49P |
probably benign |
Het |
Dscam |
C |
A |
16: 96,626,764 (GRCm39) |
A382S |
probably damaging |
Het |
Eif4a3l1 |
T |
A |
6: 136,306,535 (GRCm39) |
I332N |
probably damaging |
Het |
Eif5b |
A |
T |
1: 38,088,155 (GRCm39) |
M1020L |
probably damaging |
Het |
Elp1 |
A |
T |
4: 56,796,535 (GRCm39) |
S118R |
probably damaging |
Het |
Enpp4 |
T |
C |
17: 44,412,928 (GRCm39) |
D202G |
probably benign |
Het |
Eps8 |
A |
T |
6: 137,456,072 (GRCm39) |
I803N |
possibly damaging |
Het |
Etv2 |
C |
A |
7: 30,335,074 (GRCm39) |
G28V |
probably damaging |
Het |
Fadd |
A |
T |
7: 144,134,522 (GRCm39) |
V121E |
probably damaging |
Het |
Fam149b |
T |
C |
14: 20,431,853 (GRCm39) |
Y545H |
probably benign |
Het |
Fbxl21 |
A |
T |
13: 56,671,340 (GRCm39) |
M1L |
probably benign |
Het |
Flg2 |
T |
C |
3: 93,110,140 (GRCm39) |
S723P |
unknown |
Het |
Gm4884 |
C |
T |
7: 40,693,633 (GRCm39) |
T534I |
possibly damaging |
Het |
Gpbar1 |
A |
T |
1: 74,317,792 (GRCm39) |
I12F |
possibly damaging |
Het |
Gpr151 |
A |
T |
18: 42,712,021 (GRCm39) |
L219* |
probably null |
Het |
Hdgfl2 |
T |
A |
17: 56,404,532 (GRCm39) |
|
probably null |
Het |
Hectd4 |
A |
G |
5: 121,446,405 (GRCm39) |
M200V |
probably benign |
Het |
Idua |
A |
G |
5: 108,828,761 (GRCm39) |
N335S |
probably benign |
Het |
Ifit1bl1 |
A |
T |
19: 34,571,302 (GRCm39) |
F385Y |
probably damaging |
Het |
Ift172 |
T |
C |
5: 31,411,606 (GRCm39) |
D1624G |
probably damaging |
Het |
Igsf9b |
A |
T |
9: 27,233,964 (GRCm39) |
T388S |
possibly damaging |
Het |
Insyn2b |
A |
G |
11: 34,369,873 (GRCm39) |
K526E |
probably damaging |
Het |
Jak2 |
A |
G |
19: 29,259,811 (GRCm39) |
I237V |
probably benign |
Het |
Kat5 |
C |
A |
19: 5,653,989 (GRCm39) |
K398N |
probably damaging |
Het |
Lmbrd2 |
T |
A |
15: 9,175,283 (GRCm39) |
V398E |
possibly damaging |
Het |
Lrp1 |
T |
C |
10: 127,392,834 (GRCm39) |
N2744D |
probably damaging |
Het |
Lrrd1 |
T |
C |
5: 3,901,459 (GRCm39) |
I588T |
probably damaging |
Het |
Ltn1 |
A |
G |
16: 87,215,382 (GRCm39) |
F418L |
probably damaging |
Het |
Magi1 |
T |
A |
6: 93,792,731 (GRCm39) |
D169V |
probably benign |
Het |
Mpdz |
T |
C |
4: 81,253,988 (GRCm39) |
E1048G |
probably damaging |
Het |
Myh9 |
T |
C |
15: 77,692,110 (GRCm39) |
I150V |
probably benign |
Het |
Nckap1 |
A |
T |
2: 80,337,236 (GRCm39) |
M1006K |
probably benign |
Het |
Nkain1 |
C |
T |
4: 130,533,925 (GRCm38) |
V132I |
probably benign |
Het |
Npy6r |
A |
T |
18: 44,409,223 (GRCm39) |
M215L |
probably benign |
Het |
Nr3c2 |
A |
T |
8: 77,635,592 (GRCm39) |
Q231L |
probably damaging |
Het |
Obox5 |
C |
T |
7: 15,491,849 (GRCm39) |
P88L |
probably benign |
Het |
Or10a48 |
A |
G |
7: 108,425,186 (GRCm39) |
S7P |
probably damaging |
Het |
Or9k7 |
T |
C |
10: 130,046,811 (GRCm39) |
T63A |
probably benign |
Het |
P2rx7 |
A |
G |
5: 122,818,883 (GRCm39) |
D435G |
possibly damaging |
Het |
Pdzd2 |
T |
A |
15: 12,376,209 (GRCm39) |
S1309C |
probably damaging |
Het |
Pex5l |
C |
T |
3: 33,078,840 (GRCm39) |
|
probably null |
Het |
Pip |
T |
A |
6: 41,824,565 (GRCm39) |
C18S |
probably damaging |
Het |
Pla2g7 |
C |
T |
17: 43,909,967 (GRCm39) |
T157M |
probably damaging |
Het |
Plce1 |
A |
G |
19: 38,768,229 (GRCm39) |
Y2168C |
probably damaging |
Het |
Rgs2 |
T |
C |
1: 143,877,886 (GRCm39) |
T137A |
probably benign |
Het |
Rpl32 |
T |
A |
6: 115,784,768 (GRCm39) |
I31F |
possibly damaging |
Het |
Ryr2 |
T |
C |
13: 11,701,864 (GRCm39) |
Y2931C |
probably damaging |
Het |
Slc4a4 |
G |
A |
5: 89,194,095 (GRCm39) |
E192K |
probably damaging |
Het |
Slc4a7 |
G |
A |
14: 14,765,580 (GRCm38) |
A521T |
probably damaging |
Het |
Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
Ssc5d |
A |
G |
7: 4,939,600 (GRCm39) |
T679A |
probably benign |
Het |
Tas2r130 |
A |
C |
6: 131,607,211 (GRCm39) |
S195A |
probably benign |
Het |
Tas2r135 |
C |
T |
6: 42,382,685 (GRCm39) |
R75* |
probably null |
Het |
Terf2ip |
G |
T |
8: 112,738,052 (GRCm39) |
|
probably benign |
Het |
Tm6sf2 |
G |
A |
8: 70,528,656 (GRCm39) |
R136K |
probably benign |
Het |
Tmprss15 |
A |
G |
16: 78,764,886 (GRCm39) |
L858P |
probably damaging |
Het |
Topaz1 |
A |
G |
9: 122,626,770 (GRCm39) |
D1466G |
possibly damaging |
Het |
Trip4 |
A |
T |
9: 65,764,627 (GRCm39) |
L446Q |
probably damaging |
Het |
Trpv3 |
G |
T |
11: 73,168,818 (GRCm39) |
V93L |
probably benign |
Het |
Ubl4b |
A |
T |
3: 107,461,962 (GRCm39) |
H99Q |
probably damaging |
Het |
Unc45a |
A |
T |
7: 79,979,569 (GRCm39) |
|
probably null |
Het |
Vmn1r47 |
G |
T |
6: 89,999,335 (GRCm39) |
A156S |
probably damaging |
Het |
Vmn2r33 |
T |
A |
7: 7,566,896 (GRCm39) |
H72L |
probably benign |
Het |
Zeb1 |
G |
A |
18: 5,767,867 (GRCm39) |
V793M |
possibly damaging |
Het |
Zfp628 |
C |
A |
7: 4,924,063 (GRCm39) |
Q762K |
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 |
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 |
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 |
|