Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankef1 |
T |
A |
2: 136,395,594 (GRCm39) |
D641E |
probably benign |
Het |
Anln |
A |
G |
9: 22,272,116 (GRCm39) |
|
probably null |
Het |
Areg |
A |
T |
5: 91,292,217 (GRCm39) |
E172D |
probably damaging |
Het |
Ccdc51 |
A |
T |
9: 108,918,482 (GRCm39) |
T24S |
probably benign |
Het |
Cckar |
A |
T |
5: 53,860,424 (GRCm39) |
I135N |
probably damaging |
Het |
Cdca7 |
CGAGGAAGAGGAGGAGGAAGAGGAGGAGGAAGAGGA |
CGAGGAAGAGGAGGAGGAAGAGGA |
2: 72,313,821 (GRCm39) |
|
probably benign |
Het |
Cep295 |
T |
C |
9: 15,235,551 (GRCm39) |
H2056R |
possibly damaging |
Het |
Chrnb2 |
T |
C |
3: 89,664,562 (GRCm39) |
K451E |
probably damaging |
Het |
Ctnna2 |
C |
T |
6: 76,919,249 (GRCm39) |
R663Q |
probably benign |
Het |
Cyp4f37 |
A |
T |
17: 32,853,253 (GRCm39) |
I406F |
probably benign |
Het |
Eml4 |
T |
A |
17: 83,734,640 (GRCm39) |
|
probably benign |
Het |
Fkrp |
G |
T |
7: 16,544,569 (GRCm39) |
T431K |
probably damaging |
Het |
Fsip2 |
A |
T |
2: 82,806,180 (GRCm39) |
Y833F |
possibly damaging |
Het |
Galnt2 |
T |
C |
8: 125,058,837 (GRCm39) |
|
probably null |
Het |
Gm8180 |
T |
A |
14: 44,019,806 (GRCm39) |
|
probably null |
Het |
Hcn1 |
T |
C |
13: 118,108,171 (GRCm39) |
S552P |
unknown |
Het |
Ifit1 |
A |
C |
19: 34,625,887 (GRCm39) |
E341A |
possibly damaging |
Het |
Iyd |
A |
G |
10: 3,490,250 (GRCm39) |
|
probably benign |
Het |
Krt72 |
A |
T |
15: 101,694,836 (GRCm39) |
S20T |
probably damaging |
Het |
Lemd2 |
G |
T |
17: 27,423,069 (GRCm39) |
D108E |
probably benign |
Het |
Lipn |
A |
T |
19: 34,054,376 (GRCm39) |
I205F |
possibly damaging |
Het |
Nat1 |
G |
T |
8: 67,943,723 (GRCm39) |
R36L |
probably benign |
Het |
Nebl |
A |
T |
2: 17,415,907 (GRCm39) |
M334K |
possibly damaging |
Het |
Nectin4 |
A |
T |
1: 171,214,351 (GRCm39) |
N502I |
probably damaging |
Het |
Nrp1 |
G |
A |
8: 129,214,389 (GRCm39) |
V626I |
probably benign |
Het |
Oprm1 |
G |
A |
10: 6,773,914 (GRCm39) |
|
probably benign |
Het |
Or52w1 |
A |
G |
7: 105,017,680 (GRCm39) |
Y49C |
probably damaging |
Het |
Or8a1b |
C |
T |
9: 37,623,204 (GRCm39) |
V124M |
probably damaging |
Het |
Pde2a |
A |
G |
7: 101,156,927 (GRCm39) |
Y637C |
probably damaging |
Het |
Pde4d |
T |
C |
13: 110,071,924 (GRCm39) |
V306A |
probably damaging |
Het |
Pdzd9 |
G |
A |
7: 120,269,498 (GRCm39) |
|
probably benign |
Het |
Pitpnm3 |
T |
A |
11: 71,947,017 (GRCm39) |
D810V |
probably damaging |
Het |
Pkd1l3 |
A |
T |
8: 110,392,304 (GRCm39) |
H1966L |
probably benign |
Het |
Pmfbp1 |
C |
T |
8: 110,247,661 (GRCm39) |
T319I |
possibly damaging |
Het |
Pramel28 |
T |
C |
4: 143,692,314 (GRCm39) |
Q229R |
probably benign |
Het |
Prb1c |
G |
C |
6: 132,338,856 (GRCm39) |
Q121E |
unknown |
Het |
Psg18 |
T |
A |
7: 18,087,450 (GRCm39) |
R69S |
possibly damaging |
Het |
Ptprg |
A |
T |
14: 12,213,638 (GRCm38) |
Q1002L |
possibly damaging |
Het |
Ptprj |
T |
C |
2: 90,290,984 (GRCm39) |
Y585C |
probably damaging |
Het |
Rad51c |
T |
C |
11: 87,293,542 (GRCm39) |
T105A |
probably benign |
Het |
Rbm12 |
A |
T |
2: 155,937,481 (GRCm39) |
D930E |
unknown |
Het |
Rlf |
A |
C |
4: 121,007,784 (GRCm39) |
S509A |
possibly damaging |
Het |
Slc39a3 |
C |
A |
10: 80,869,499 (GRCm39) |
G53C |
probably damaging |
Het |
Sprr2d |
A |
C |
3: 92,247,715 (GRCm39) |
E52A |
unknown |
Het |
Stat1 |
A |
G |
1: 52,182,086 (GRCm39) |
N355S |
probably damaging |
Het |
Tmem30b |
T |
C |
12: 73,592,923 (GRCm39) |
E64G |
probably benign |
Het |
Ttll11 |
A |
T |
2: 35,869,392 (GRCm39) |
V82D |
probably benign |
Het |
Ttn |
T |
A |
2: 76,570,977 (GRCm39) |
T26639S |
probably damaging |
Het |
Usp53 |
A |
T |
3: 122,727,725 (GRCm39) |
N952K |
probably benign |
Het |
Vmn1r199 |
T |
A |
13: 22,567,724 (GRCm39) |
H339Q |
possibly damaging |
Het |
Vps13b |
G |
A |
15: 35,422,537 (GRCm39) |
D166N |
probably damaging |
Het |
Zfp954 |
C |
A |
7: 7,119,097 (GRCm39) |
C149F |
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 |
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 |
|
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 |
|