Other mutations in this stock |
Total: 81 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8a |
A |
G |
11: 109,982,341 (GRCm39) |
|
probably benign |
Het |
Adgre5 |
A |
G |
8: 84,455,738 (GRCm39) |
V190A |
probably damaging |
Het |
Akap6 |
A |
G |
12: 53,151,395 (GRCm39) |
N1153S |
probably benign |
Het |
Aldh1a7 |
G |
A |
19: 20,704,819 (GRCm39) |
H20Y |
probably benign |
Het |
B430306N03Rik |
A |
G |
17: 48,631,176 (GRCm39) |
E278G |
probably benign |
Het |
Cacna1b |
C |
A |
2: 24,506,891 (GRCm39) |
R72L |
probably null |
Het |
Cc2d2a |
C |
G |
5: 43,863,564 (GRCm39) |
S675R |
probably damaging |
Het |
Ccdc88b |
T |
A |
19: 6,826,594 (GRCm39) |
E1040D |
probably damaging |
Het |
Cmtm7 |
A |
G |
9: 114,592,432 (GRCm39) |
V55A |
probably damaging |
Het |
Coq4 |
A |
C |
2: 29,679,938 (GRCm39) |
T77P |
probably damaging |
Het |
Cyp2j11 |
C |
A |
4: 96,228,211 (GRCm39) |
W136L |
probably damaging |
Het |
Dctn2 |
T |
A |
10: 127,110,918 (GRCm39) |
Y86* |
probably null |
Het |
Ddx56 |
A |
G |
11: 6,213,937 (GRCm39) |
|
probably null |
Het |
Dop1b |
T |
C |
16: 93,513,150 (GRCm39) |
S30P |
probably damaging |
Het |
Ep400 |
T |
C |
5: 110,851,441 (GRCm39) |
K1347R |
unknown |
Het |
Fat3 |
T |
A |
9: 15,908,353 (GRCm39) |
T2550S |
possibly damaging |
Het |
Fcrla |
G |
T |
1: 170,755,095 (GRCm39) |
C5* |
probably null |
Het |
Fem1al |
A |
G |
11: 29,774,039 (GRCm39) |
S473P |
probably benign |
Het |
Fermt1 |
T |
A |
2: 132,764,762 (GRCm39) |
D365V |
probably damaging |
Het |
Fhod3 |
A |
G |
18: 25,123,022 (GRCm39) |
|
probably benign |
Het |
Fhod3 |
A |
G |
18: 25,218,658 (GRCm39) |
D807G |
probably benign |
Het |
Fnip1 |
C |
T |
11: 54,371,510 (GRCm39) |
T177I |
probably damaging |
Het |
Gart |
T |
C |
16: 91,425,037 (GRCm39) |
Y662C |
probably damaging |
Het |
Gda |
A |
T |
19: 21,375,004 (GRCm39) |
|
probably benign |
Het |
Gk |
A |
G |
X: 84,804,186 (GRCm39) |
I85T |
probably damaging |
Het |
Gm3476 |
A |
G |
14: 6,118,358 (GRCm38) |
L255P |
possibly damaging |
Het |
Gm9966 |
T |
C |
7: 95,607,684 (GRCm39) |
C2R |
unknown |
Het |
Gnpda1 |
T |
C |
18: 38,466,243 (GRCm39) |
|
probably null |
Het |
Gtf2h4 |
G |
A |
17: 35,981,090 (GRCm39) |
L246F |
possibly damaging |
Het |
Hao1 |
A |
T |
2: 134,364,980 (GRCm39) |
S216T |
probably benign |
Het |
Hnrnpr |
C |
A |
4: 136,059,799 (GRCm39) |
S301* |
probably null |
Het |
Hsd3b2 |
A |
G |
3: 98,619,342 (GRCm39) |
I201T |
probably benign |
Het |
Jade2 |
T |
C |
11: 51,709,365 (GRCm39) |
E548G |
possibly damaging |
Het |
Katnbl1 |
T |
C |
2: 112,239,524 (GRCm39) |
I241T |
probably benign |
Het |
Keap1 |
G |
T |
9: 21,145,102 (GRCm39) |
Q299K |
probably benign |
Het |
Kif1a |
T |
C |
1: 92,946,753 (GRCm39) |
I1650V |
possibly damaging |
Het |
Lrba |
G |
A |
3: 86,571,808 (GRCm39) |
G275R |
probably damaging |
Het |
Map3k9 |
C |
A |
12: 81,827,564 (GRCm39) |
E29* |
probably null |
Het |
Mat1a |
G |
A |
14: 40,843,394 (GRCm39) |
V307I |
probably damaging |
Het |
Mcm2 |
A |
T |
6: 88,868,785 (GRCm39) |
M324K |
possibly damaging |
Het |
Metap1d |
T |
C |
2: 71,341,871 (GRCm39) |
V155A |
probably damaging |
Het |
Mtbp |
A |
G |
15: 55,428,073 (GRCm39) |
|
probably benign |
Het |
Myh14 |
T |
C |
7: 44,307,349 (GRCm39) |
T231A |
probably benign |
Het |
Mylk4 |
A |
T |
13: 32,908,836 (GRCm39) |
D90E |
probably benign |
Het |
Myo15b |
T |
A |
11: 115,773,080 (GRCm39) |
I1837K |
possibly damaging |
Het |
Myo3a |
T |
A |
2: 22,296,733 (GRCm39) |
H242Q |
probably damaging |
Het |
Nxn |
A |
G |
11: 76,152,498 (GRCm39) |
|
probably benign |
Het |
Or6c2 |
T |
A |
10: 129,362,918 (GRCm39) |
V274D |
probably damaging |
Het |
Pak3 |
C |
A |
X: 142,574,298 (GRCm39) |
A553E |
possibly damaging |
Het |
Pdia2 |
T |
A |
17: 26,417,079 (GRCm39) |
T122S |
possibly damaging |
Het |
Pira12 |
C |
T |
7: 3,900,637 (GRCm39) |
V38M |
probably damaging |
Het |
Plod2 |
A |
G |
9: 92,463,310 (GRCm39) |
T132A |
probably benign |
Het |
Ptprz1 |
T |
A |
6: 23,035,039 (GRCm39) |
|
probably benign |
Het |
Rad54b |
A |
C |
4: 11,601,693 (GRCm39) |
N416T |
probably damaging |
Het |
Recql4 |
A |
T |
15: 76,588,037 (GRCm39) |
Y1142* |
probably null |
Het |
Rnf216 |
A |
G |
5: 142,978,561 (GRCm39) |
V859A |
probably benign |
Het |
Scnm1 |
G |
T |
3: 95,037,584 (GRCm39) |
P161T |
possibly damaging |
Het |
Serpinb6b |
A |
G |
13: 33,162,223 (GRCm39) |
I222V |
probably benign |
Het |
Serpinf1 |
A |
G |
11: 75,301,833 (GRCm39) |
I274T |
possibly damaging |
Het |
Slc28a1 |
T |
C |
7: 80,819,334 (GRCm39) |
F641L |
probably benign |
Het |
Slc8a2 |
A |
G |
7: 15,886,845 (GRCm39) |
I657V |
probably benign |
Het |
Spata31 |
T |
C |
13: 65,068,679 (GRCm39) |
Y276H |
possibly damaging |
Het |
Spire2 |
A |
G |
8: 124,089,810 (GRCm39) |
D447G |
probably benign |
Het |
Stk3 |
G |
A |
15: 35,073,363 (GRCm39) |
T119I |
probably damaging |
Het |
Stxbp5 |
C |
A |
10: 9,688,042 (GRCm39) |
V420F |
possibly damaging |
Het |
Sult2a5 |
T |
C |
7: 13,404,609 (GRCm39) |
F282S |
probably damaging |
Het |
Syk |
A |
T |
13: 52,776,744 (GRCm39) |
D248V |
probably damaging |
Het |
Thoc6 |
C |
T |
17: 23,888,364 (GRCm39) |
|
probably benign |
Het |
Timd5 |
A |
G |
11: 46,419,358 (GRCm39) |
D58G |
possibly damaging |
Het |
Tll2 |
T |
A |
19: 41,116,936 (GRCm39) |
D293V |
possibly damaging |
Het |
Umodl1 |
G |
A |
17: 31,203,017 (GRCm39) |
V457M |
probably damaging |
Het |
Usp19 |
T |
A |
9: 108,376,524 (GRCm39) |
C689* |
probably null |
Het |
Usp24 |
T |
G |
4: 106,267,483 (GRCm39) |
V1955G |
probably damaging |
Het |
Vmn1r226 |
T |
C |
17: 20,907,842 (GRCm39) |
S25P |
probably damaging |
Het |
Vmn2r69 |
C |
T |
7: 85,060,891 (GRCm39) |
C231Y |
probably damaging |
Het |
Wdr73 |
C |
T |
7: 80,543,081 (GRCm39) |
D176N |
probably benign |
Het |
Wnt7b |
T |
A |
15: 85,443,281 (GRCm39) |
I41F |
probably damaging |
Het |
Zfhx3 |
T |
C |
8: 109,682,880 (GRCm39) |
S3440P |
unknown |
Het |
Zfp52 |
T |
G |
17: 21,780,426 (GRCm39) |
N91K |
probably benign |
Het |
Zfp930 |
C |
A |
8: 69,681,357 (GRCm39) |
Q350K |
probably benign |
Het |
Zfp949 |
T |
C |
9: 88,452,115 (GRCm39) |
S562P |
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 |
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 |
|