Other mutations in this stock |
Total: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrv1 |
T |
C |
13: 81,581,644 (GRCm39) |
D4800G |
probably benign |
Het |
Akna |
T |
C |
4: 63,305,269 (GRCm39) |
D499G |
probably benign |
Het |
Arid1b |
A |
C |
17: 5,387,565 (GRCm39) |
I1673L |
probably benign |
Het |
Bcr |
T |
A |
10: 75,011,161 (GRCm39) |
M24K |
probably benign |
Het |
Bsn |
A |
G |
9: 107,989,854 (GRCm39) |
V1966A |
probably benign |
Het |
Ccdc39 |
T |
C |
3: 33,867,227 (GRCm39) |
N928S |
possibly damaging |
Het |
Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
Cdc6 |
G |
A |
11: 98,799,657 (GRCm39) |
|
probably null |
Het |
Cfap97d2 |
A |
T |
8: 13,785,937 (GRCm39) |
N69I |
probably damaging |
Het |
Cmtm1 |
C |
T |
8: 105,020,307 (GRCm39) |
A371T |
probably damaging |
Het |
Cmtm7 |
A |
C |
9: 114,592,459 (GRCm39) |
V46G |
possibly damaging |
Het |
Cmtr1 |
A |
G |
17: 29,906,131 (GRCm39) |
|
probably null |
Het |
Col5a3 |
T |
C |
9: 20,720,887 (GRCm39) |
H149R |
unknown |
Het |
Coro7 |
T |
G |
16: 4,449,858 (GRCm39) |
Q634P |
probably benign |
Het |
Crym |
A |
G |
7: 119,800,298 (GRCm39) |
|
probably null |
Het |
Csmd3 |
A |
T |
15: 47,532,556 (GRCm39) |
F2546L |
probably benign |
Het |
Dmap1 |
T |
C |
4: 117,533,236 (GRCm39) |
T273A |
probably benign |
Het |
Dnah1 |
T |
C |
14: 30,994,899 (GRCm39) |
Y2786C |
probably damaging |
Het |
Echs1 |
A |
C |
7: 139,690,561 (GRCm39) |
|
probably benign |
Het |
Edem3 |
T |
A |
1: 151,680,449 (GRCm39) |
F525I |
possibly damaging |
Het |
Exosc3 |
T |
C |
4: 45,319,642 (GRCm39) |
I127V |
probably benign |
Het |
Fam193a |
A |
G |
5: 34,578,130 (GRCm39) |
D208G |
probably benign |
Het |
Farp2 |
T |
C |
1: 93,508,621 (GRCm39) |
V773A |
probably benign |
Het |
Gas6 |
A |
G |
8: 13,516,848 (GRCm39) |
V550A |
probably damaging |
Het |
Gkn3 |
C |
T |
6: 87,360,507 (GRCm39) |
A163T |
probably damaging |
Het |
Gm2423 |
A |
G |
13: 13,406,961 (GRCm39) |
|
noncoding transcript |
Het |
Grin1 |
T |
C |
2: 25,184,482 (GRCm39) |
S911G |
probably benign |
Het |
Hkdc1 |
T |
C |
10: 62,236,133 (GRCm39) |
I470V |
probably benign |
Het |
Hsdl2 |
T |
A |
4: 59,593,270 (GRCm39) |
|
probably benign |
Het |
Iars2 |
A |
G |
1: 185,048,176 (GRCm39) |
Y519H |
probably damaging |
Het |
Ikbkb |
A |
T |
8: 23,159,623 (GRCm39) |
M455K |
probably benign |
Het |
Keap1 |
G |
T |
9: 21,142,706 (GRCm39) |
H516Q |
probably benign |
Het |
Klk1b27 |
A |
T |
7: 43,705,956 (GRCm39) |
I220F |
probably damaging |
Het |
Knop1 |
G |
A |
7: 118,455,087 (GRCm39) |
|
probably benign |
Het |
Lhcgr |
T |
C |
17: 89,050,030 (GRCm39) |
T499A |
probably benign |
Het |
Lrch3 |
A |
T |
16: 32,808,854 (GRCm39) |
|
probably null |
Het |
Lrrc2 |
G |
A |
9: 110,799,228 (GRCm39) |
|
probably null |
Het |
Lrrk2 |
T |
C |
15: 91,648,962 (GRCm39) |
L1652P |
probably damaging |
Het |
Mbl1 |
T |
C |
14: 40,876,515 (GRCm39) |
V71A |
possibly damaging |
Het |
Med8 |
T |
A |
4: 118,268,998 (GRCm39) |
M1K |
probably null |
Het |
Mfsd2b |
A |
G |
12: 4,918,992 (GRCm39) |
L88P |
probably benign |
Het |
Mkrn2 |
T |
A |
6: 115,588,811 (GRCm39) |
C185S |
probably damaging |
Het |
Myo1d |
A |
G |
11: 80,670,667 (GRCm39) |
|
probably benign |
Het |
Napg |
T |
G |
18: 63,125,563 (GRCm39) |
|
probably null |
Het |
Ncor1 |
A |
G |
11: 62,269,438 (GRCm39) |
M253T |
probably benign |
Het |
Oas3 |
T |
C |
5: 120,904,321 (GRCm39) |
T518A |
unknown |
Het |
Obox3-ps8 |
A |
G |
17: 36,764,036 (GRCm39) |
|
noncoding transcript |
Het |
Opn5 |
A |
T |
17: 42,918,091 (GRCm39) |
M57K |
probably damaging |
Het |
Or10a3n |
A |
T |
7: 108,493,028 (GRCm39) |
F195L |
probably benign |
Het |
Or13j1 |
T |
C |
4: 43,705,785 (GRCm39) |
K261R |
probably damaging |
Het |
Or52p1 |
T |
C |
7: 104,267,696 (GRCm39) |
V270A |
possibly damaging |
Het |
Pde2a |
C |
G |
7: 101,143,825 (GRCm39) |
P148R |
possibly damaging |
Het |
Prss56 |
C |
T |
1: 87,113,059 (GRCm39) |
L158F |
possibly damaging |
Het |
Psmg3 |
G |
A |
5: 139,812,125 (GRCm39) |
|
probably benign |
Het |
Rnase9 |
C |
T |
14: 51,276,901 (GRCm39) |
G26R |
probably damaging |
Het |
Skint4 |
T |
C |
4: 111,975,433 (GRCm39) |
V131A |
possibly damaging |
Het |
Slc10a4 |
T |
A |
5: 73,169,398 (GRCm39) |
V341E |
probably damaging |
Het |
Slc16a14 |
T |
C |
1: 84,890,741 (GRCm39) |
Y188C |
probably damaging |
Het |
Slc7a1 |
G |
T |
5: 148,272,250 (GRCm39) |
P476T |
probably damaging |
Het |
Smurf1 |
A |
T |
5: 144,829,994 (GRCm39) |
D336E |
probably damaging |
Het |
Sox30 |
G |
A |
11: 45,875,592 (GRCm39) |
S448N |
probably benign |
Het |
Spag11a |
G |
A |
8: 19,209,398 (GRCm39) |
V63I |
possibly damaging |
Het |
Sprr1b |
T |
G |
3: 92,344,600 (GRCm39) |
K92T |
probably damaging |
Het |
Stam2 |
T |
C |
2: 52,610,962 (GRCm39) |
Y20C |
probably benign |
Het |
Sult2b1 |
T |
A |
7: 45,391,489 (GRCm39) |
Y97F |
probably damaging |
Het |
Tecpr2 |
C |
T |
12: 110,899,410 (GRCm39) |
P593S |
probably benign |
Het |
Tek |
T |
C |
4: 94,687,397 (GRCm39) |
V170A |
possibly damaging |
Het |
Tiam2 |
A |
G |
17: 3,500,592 (GRCm39) |
Y891C |
probably benign |
Het |
Tmem220 |
A |
G |
11: 66,920,819 (GRCm39) |
T75A |
possibly damaging |
Het |
Traf3 |
T |
G |
12: 111,228,470 (GRCm39) |
D560E |
probably damaging |
Het |
Txlnb |
A |
G |
10: 17,675,015 (GRCm39) |
H56R |
probably benign |
Het |
Vmn2r98 |
A |
T |
17: 19,286,602 (GRCm39) |
N367Y |
probably benign |
Het |
Vnn3 |
A |
G |
10: 23,727,589 (GRCm39) |
I36M |
possibly damaging |
Het |
Zbtb7a |
G |
A |
10: 80,980,274 (GRCm39) |
R156H |
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 |
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 |
|