Other mutations in this stock |
Total: 78 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Afg1l |
T |
C |
10: 42,330,491 (GRCm39) |
T59A |
probably benign |
Het |
Ankrd17 |
T |
A |
5: 90,412,656 (GRCm39) |
M1223L |
possibly damaging |
Het |
Ankrd24 |
G |
A |
10: 81,474,472 (GRCm39) |
S68N |
probably benign |
Het |
Arhgap31 |
A |
G |
16: 38,445,952 (GRCm39) |
I131T |
probably damaging |
Het |
Arhgef10 |
A |
T |
8: 15,029,836 (GRCm39) |
I874F |
probably damaging |
Het |
Arl5b |
T |
C |
2: 15,074,648 (GRCm39) |
V43A |
probably benign |
Het |
BC051665 |
G |
A |
13: 60,932,854 (GRCm39) |
H36Y |
probably benign |
Het |
Cdh9 |
A |
G |
15: 16,778,392 (GRCm39) |
D69G |
probably damaging |
Het |
Chd6 |
G |
A |
2: 160,808,559 (GRCm39) |
L1552F |
probably damaging |
Het |
Chrd |
A |
G |
16: 20,556,191 (GRCm39) |
H584R |
probably damaging |
Het |
Dnhd1 |
G |
A |
7: 105,343,179 (GRCm39) |
V1508I |
possibly damaging |
Het |
Dpy19l4 |
C |
T |
4: 11,303,360 (GRCm39) |
G187D |
probably damaging |
Het |
Dync2h1 |
T |
C |
9: 7,015,526 (GRCm39) |
|
probably null |
Het |
Ehbp1l1 |
A |
G |
19: 5,766,434 (GRCm39) |
V1303A |
probably damaging |
Het |
Eif4e1b |
G |
A |
13: 54,934,704 (GRCm39) |
E182K |
probably damaging |
Het |
Fam170b |
A |
T |
14: 32,557,843 (GRCm39) |
Q226L |
possibly damaging |
Het |
Fam193a |
C |
T |
5: 34,619,475 (GRCm39) |
P760L |
probably damaging |
Het |
Gabra5 |
A |
T |
7: 57,157,796 (GRCm39) |
L6H |
probably benign |
Het |
Gabrq |
G |
A |
X: 71,876,989 (GRCm39) |
R161H |
probably damaging |
Het |
Gm10608 |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,784 (GRCm39) |
|
probably null |
Het |
Gm7334 |
T |
A |
17: 51,006,006 (GRCm39) |
D97E |
probably damaging |
Het |
Gpsm1 |
G |
A |
2: 26,215,395 (GRCm39) |
A286T |
probably damaging |
Het |
Gsta4 |
C |
A |
9: 78,111,611 (GRCm39) |
Y79* |
probably null |
Het |
Hcn1 |
T |
A |
13: 117,793,270 (GRCm39) |
V174D |
probably benign |
Het |
Hic1 |
G |
T |
11: 75,056,620 (GRCm39) |
C756* |
probably null |
Het |
Hivep3 |
C |
T |
4: 119,953,868 (GRCm39) |
T728I |
probably benign |
Het |
Ice1 |
T |
C |
13: 70,752,561 (GRCm39) |
E1175G |
possibly damaging |
Het |
Igsf3 |
T |
A |
3: 101,338,598 (GRCm39) |
L304Q |
probably damaging |
Het |
Kpna6 |
T |
C |
4: 129,551,235 (GRCm39) |
D90G |
probably benign |
Het |
Krt73 |
C |
T |
15: 101,702,363 (GRCm39) |
G500D |
probably damaging |
Het |
Lama3 |
A |
G |
18: 12,535,119 (GRCm39) |
K156E |
probably damaging |
Het |
Mdm2 |
T |
C |
10: 117,531,927 (GRCm39) |
K94E |
probably damaging |
Het |
Mitf |
T |
C |
6: 97,918,060 (GRCm39) |
S26P |
probably damaging |
Het |
Myh4 |
C |
A |
11: 67,147,121 (GRCm39) |
Q1589K |
possibly damaging |
Het |
Nlrp4c |
T |
A |
7: 6,076,113 (GRCm39) |
V671E |
probably benign |
Het |
Nop9 |
C |
T |
14: 55,989,591 (GRCm39) |
A407V |
possibly damaging |
Het |
Nrap |
T |
A |
19: 56,323,474 (GRCm39) |
H1366L |
probably damaging |
Het |
Ntrk1 |
A |
T |
3: 87,685,825 (GRCm39) |
C766S |
probably damaging |
Het |
Oog3 |
C |
T |
4: 143,885,692 (GRCm39) |
G302D |
possibly damaging |
Het |
Or4q3 |
T |
C |
14: 50,583,677 (GRCm39) |
Y43C |
probably damaging |
Het |
Or52z15 |
A |
G |
7: 103,332,068 (GRCm39) |
N38D |
possibly damaging |
Het |
Or6c38 |
T |
C |
10: 128,929,616 (GRCm39) |
I76V |
probably benign |
Het |
Or7g27 |
A |
G |
9: 19,250,154 (GRCm39) |
T133A |
probably benign |
Het |
Pdzph1 |
C |
T |
17: 59,280,747 (GRCm39) |
V512I |
probably benign |
Het |
Phf2 |
A |
C |
13: 48,973,033 (GRCm39) |
S408A |
unknown |
Het |
Pigk |
T |
G |
3: 152,445,793 (GRCm39) |
L135V |
probably damaging |
Het |
Ppp2ca |
C |
A |
11: 52,012,773 (GRCm39) |
T301N |
probably benign |
Het |
Ppp4r3a |
A |
G |
12: 101,024,741 (GRCm39) |
S253P |
probably damaging |
Het |
Ptgfrn |
A |
T |
3: 100,957,438 (GRCm39) |
I712N |
probably benign |
Het |
Rapgef2 |
A |
T |
3: 79,000,010 (GRCm39) |
D579E |
probably damaging |
Het |
Rims2 |
T |
A |
15: 39,325,976 (GRCm39) |
D769E |
probably damaging |
Het |
Rptor |
T |
A |
11: 119,615,887 (GRCm39) |
C134S |
probably damaging |
Het |
S100a1 |
A |
G |
3: 90,418,599 (GRCm39) |
F72L |
probably damaging |
Het |
Scube1 |
T |
A |
15: 83,606,146 (GRCm39) |
D42V |
probably damaging |
Het |
Sh3glb1 |
T |
C |
3: 144,418,446 (GRCm39) |
D39G |
probably damaging |
Het |
Sh3pxd2a |
T |
C |
19: 47,261,689 (GRCm39) |
T397A |
probably benign |
Het |
Siglece |
G |
A |
7: 43,300,956 (GRCm39) |
T453M |
probably damaging |
Het |
Slc26a1 |
G |
A |
5: 108,819,658 (GRCm39) |
R514W |
probably damaging |
Het |
Slc4a8 |
T |
C |
15: 100,685,093 (GRCm39) |
V156A |
probably benign |
Het |
Sorbs2 |
A |
G |
8: 46,223,613 (GRCm39) |
Y222C |
probably damaging |
Het |
Sorcs3 |
G |
T |
19: 48,592,314 (GRCm39) |
W326C |
possibly damaging |
Het |
Taf2 |
A |
G |
15: 54,934,793 (GRCm39) |
V45A |
probably benign |
Het |
Tex16 |
T |
C |
X: 111,150,782 (GRCm39) |
Y22H |
probably benign |
Het |
Tiparp |
A |
T |
3: 65,439,470 (GRCm39) |
H80L |
probably damaging |
Het |
Tmem71 |
T |
A |
15: 66,413,548 (GRCm39) |
T175S |
probably benign |
Het |
Tmem87b |
T |
A |
2: 128,681,090 (GRCm39) |
V338D |
probably damaging |
Het |
Trdn |
A |
G |
10: 33,240,004 (GRCm39) |
K445R |
probably damaging |
Het |
Trim14 |
A |
G |
4: 46,522,039 (GRCm39) |
F213L |
probably benign |
Het |
Tubgcp5 |
T |
A |
7: 55,464,768 (GRCm39) |
S550T |
probably benign |
Het |
Tufm |
A |
G |
7: 126,089,644 (GRCm39) |
D446G |
probably benign |
Het |
Vipr1 |
A |
T |
9: 121,490,485 (GRCm39) |
Y177F |
possibly damaging |
Het |
Vmn2r116 |
A |
C |
17: 23,620,740 (GRCm39) |
I825L |
probably damaging |
Het |
Vmn2r12 |
G |
T |
5: 109,239,910 (GRCm39) |
Q218K |
probably damaging |
Het |
Vwa7 |
G |
T |
17: 35,242,919 (GRCm39) |
|
probably null |
Het |
Ywhae |
T |
C |
11: 75,646,491 (GRCm39) |
V119A |
probably damaging |
Het |
Zfand5 |
A |
G |
19: 21,257,888 (GRCm39) |
R199G |
probably damaging |
Het |
Zfp810 |
T |
C |
9: 22,189,828 (GRCm39) |
Y360C |
possibly damaging |
Het |
Zrsr2-ps1 |
A |
G |
11: 22,923,637 (GRCm39) |
D137G |
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 |
|
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 |
|