Other mutations in this stock |
Total: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aldh9a1 |
T |
C |
1: 167,183,354 (GRCm39) |
S191P |
probably damaging |
Het |
Aldoart2 |
A |
T |
12: 55,612,566 (GRCm39) |
I164F |
probably damaging |
Het |
Anapc1 |
C |
A |
2: 128,475,328 (GRCm39) |
A1384S |
probably damaging |
Het |
Arid5a |
T |
G |
1: 36,358,514 (GRCm39) |
S429A |
possibly damaging |
Het |
Asxl1 |
A |
G |
2: 153,242,125 (GRCm39) |
K892E |
probably benign |
Het |
Bltp1 |
T |
A |
3: 37,057,908 (GRCm39) |
V3166E |
possibly damaging |
Het |
Bpnt1 |
G |
A |
1: 185,086,218 (GRCm39) |
W261* |
probably null |
Het |
Calu |
A |
G |
6: 29,356,552 (GRCm39) |
D26G |
possibly damaging |
Het |
Ccdc113 |
C |
T |
8: 96,264,885 (GRCm39) |
|
probably benign |
Het |
Cd109 |
T |
C |
9: 78,605,405 (GRCm39) |
Y1003H |
probably benign |
Het |
Cdh9 |
A |
G |
15: 16,831,033 (GRCm39) |
K290R |
probably damaging |
Het |
Cep131 |
G |
A |
11: 119,967,835 (GRCm39) |
A140V |
possibly damaging |
Het |
Cfap251 |
A |
G |
5: 123,418,015 (GRCm39) |
I81M |
possibly damaging |
Het |
Chn1 |
A |
T |
2: 73,462,096 (GRCm39) |
C236S |
probably damaging |
Het |
Cntn4 |
T |
A |
6: 106,655,295 (GRCm39) |
|
probably benign |
Het |
Crispld1 |
A |
T |
1: 17,817,025 (GRCm39) |
Q194L |
probably benign |
Het |
Csmd3 |
A |
G |
15: 47,596,895 (GRCm39) |
V1981A |
probably damaging |
Het |
Cttn |
A |
G |
7: 144,015,043 (GRCm39) |
I55T |
probably damaging |
Het |
Ddx46 |
G |
T |
13: 55,785,835 (GRCm39) |
|
probably benign |
Het |
Diaph1 |
A |
T |
18: 38,030,557 (GRCm39) |
I299N |
unknown |
Het |
Dll1 |
A |
G |
17: 15,588,768 (GRCm39) |
Y636H |
probably damaging |
Het |
Eng |
A |
T |
2: 32,559,544 (GRCm39) |
Q111L |
possibly damaging |
Het |
Exoc6 |
T |
C |
19: 37,578,324 (GRCm39) |
V389A |
possibly damaging |
Het |
Fbxw26 |
T |
A |
9: 109,547,043 (GRCm39) |
T461S |
probably benign |
Het |
Gbf1 |
T |
C |
19: 46,268,434 (GRCm39) |
Y1269H |
probably damaging |
Het |
Gm5852 |
A |
G |
3: 93,635,086 (GRCm39) |
Y90H |
possibly damaging |
Het |
Gnrhr |
C |
T |
5: 86,330,052 (GRCm39) |
G323R |
probably damaging |
Het |
Gpr155 |
T |
A |
2: 73,182,229 (GRCm39) |
E661D |
possibly damaging |
Het |
Grik4 |
A |
T |
9: 42,432,472 (GRCm39) |
C842S |
probably damaging |
Het |
Iws1 |
A |
G |
18: 32,216,519 (GRCm39) |
|
probably benign |
Het |
Kif5c |
A |
G |
2: 49,591,089 (GRCm39) |
T314A |
probably damaging |
Het |
Klhdc1 |
A |
C |
12: 69,298,751 (GRCm39) |
K112T |
probably damaging |
Het |
Kmt2a |
T |
C |
9: 44,720,393 (GRCm39) |
T3865A |
unknown |
Het |
Lgr5 |
T |
C |
10: 115,288,997 (GRCm39) |
K477R |
probably damaging |
Het |
Ly75 |
A |
T |
2: 60,206,351 (GRCm39) |
L106Q |
probably damaging |
Het |
Mcph1 |
T |
A |
8: 18,675,655 (GRCm39) |
M26K |
probably damaging |
Het |
Mettl2 |
T |
C |
11: 105,017,348 (GRCm39) |
V9A |
probably benign |
Het |
Mgat5b |
A |
G |
11: 116,864,202 (GRCm39) |
D456G |
probably benign |
Het |
Mstn |
A |
G |
1: 53,105,689 (GRCm39) |
T344A |
possibly damaging |
Het |
Npr1 |
T |
A |
3: 90,370,543 (GRCm39) |
I308F |
possibly damaging |
Het |
Oasl1 |
G |
A |
5: 115,075,466 (GRCm39) |
V509M |
probably benign |
Het |
Obscn |
T |
C |
11: 58,924,583 (GRCm39) |
M5727V |
probably benign |
Het |
Or2d4 |
T |
C |
7: 106,543,748 (GRCm39) |
I153M |
possibly damaging |
Het |
Or4c114 |
T |
A |
2: 88,904,545 (GRCm39) |
I297F |
probably benign |
Het |
Or4k15c |
T |
A |
14: 50,321,404 (GRCm39) |
T245S |
probably benign |
Het |
Or5an1c |
A |
G |
19: 12,218,891 (GRCm39) |
S45P |
probably damaging |
Het |
Pcgf1 |
T |
C |
6: 83,055,398 (GRCm39) |
I11T |
possibly damaging |
Het |
Phactr3 |
T |
C |
2: 177,924,893 (GRCm39) |
V276A |
probably benign |
Het |
Pla2g6 |
A |
T |
15: 79,202,168 (GRCm39) |
M1K |
probably null |
Het |
Plec |
T |
C |
15: 76,074,728 (GRCm39) |
E413G |
probably damaging |
Het |
Plxna2 |
G |
T |
1: 194,326,626 (GRCm39) |
A187S |
possibly damaging |
Het |
Polq |
A |
T |
16: 36,892,184 (GRCm39) |
|
probably benign |
Het |
Pramel51 |
T |
C |
12: 88,143,202 (GRCm39) |
K139E |
probably benign |
Het |
Prss39 |
A |
G |
1: 34,541,216 (GRCm39) |
D240G |
probably benign |
Het |
Ptpn12 |
A |
T |
5: 21,203,553 (GRCm39) |
Y408* |
probably null |
Het |
Ptprt |
A |
G |
2: 162,109,999 (GRCm39) |
|
probably benign |
Het |
Rnf6 |
A |
T |
5: 146,152,931 (GRCm39) |
S95T |
possibly damaging |
Het |
Ryr2 |
T |
C |
13: 11,866,090 (GRCm39) |
S287G |
possibly damaging |
Het |
Samd4b |
A |
G |
7: 28,113,491 (GRCm39) |
F158S |
possibly damaging |
Het |
Slco1a5 |
T |
A |
6: 142,182,012 (GRCm39) |
I571L |
possibly damaging |
Het |
Smg9 |
T |
C |
7: 24,120,691 (GRCm39) |
|
probably null |
Het |
Snx25 |
A |
G |
8: 46,558,197 (GRCm39) |
L270P |
probably damaging |
Het |
Ssh1 |
G |
T |
5: 114,096,883 (GRCm39) |
T165N |
probably benign |
Het |
Stk24 |
T |
A |
14: 121,540,218 (GRCm39) |
E127V |
probably damaging |
Het |
Suco |
A |
G |
1: 161,661,689 (GRCm39) |
V914A |
probably damaging |
Het |
Tbcd |
T |
A |
11: 121,366,506 (GRCm39) |
|
probably benign |
Het |
Tbcel |
A |
T |
9: 42,355,817 (GRCm39) |
L114Q |
possibly damaging |
Het |
Trpm1 |
A |
G |
7: 63,884,767 (GRCm39) |
D816G |
probably benign |
Het |
Uhrf1 |
G |
A |
17: 56,625,250 (GRCm39) |
V566M |
probably damaging |
Het |
Ulk4 |
T |
A |
9: 121,095,367 (GRCm39) |
E95D |
probably damaging |
Het |
Vmn1r40 |
T |
C |
6: 89,691,201 (GRCm39) |
M6T |
probably benign |
Het |
Vmn2r59 |
C |
T |
7: 41,661,983 (GRCm39) |
V611I |
possibly damaging |
Het |
Vwde |
G |
T |
6: 13,193,239 (GRCm39) |
H367N |
probably benign |
Het |
Xpo6 |
A |
G |
7: 125,723,553 (GRCm39) |
V585A |
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 |
|
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 |
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 |
|