Other mutations in this stock |
Total: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700010I14Rik |
T |
C |
17: 9,226,927 (GRCm39) |
V494A |
probably benign |
Het |
1700017B05Rik |
A |
T |
9: 57,166,041 (GRCm39) |
L111Q |
probably damaging |
Het |
Adgrf4 |
T |
G |
17: 42,977,424 (GRCm39) |
I640L |
possibly damaging |
Het |
Afdn |
T |
G |
17: 14,111,074 (GRCm39) |
|
probably null |
Het |
Ammecr1l |
A |
T |
18: 31,894,877 (GRCm39) |
|
probably benign |
Het |
Aox1 |
A |
T |
1: 58,375,808 (GRCm39) |
Y879F |
probably benign |
Het |
Arhgap45 |
G |
A |
10: 79,862,181 (GRCm39) |
|
probably null |
Het |
Arpp21 |
G |
T |
9: 111,955,514 (GRCm39) |
H542N |
probably benign |
Het |
Ccdc192 |
C |
T |
18: 57,725,059 (GRCm39) |
T96I |
probably benign |
Het |
Cdt1 |
G |
A |
8: 123,298,719 (GRCm39) |
R452Q |
probably damaging |
Het |
Clcn7 |
C |
T |
17: 25,372,667 (GRCm39) |
H149Y |
|
Het |
Clpp |
T |
G |
17: 57,297,421 (GRCm39) |
W32G |
probably benign |
Het |
Dnmt1 |
G |
T |
9: 20,819,785 (GRCm39) |
L1572M |
probably damaging |
Het |
Drd3 |
G |
T |
16: 43,627,741 (GRCm39) |
R128S |
probably damaging |
Het |
Elmo2 |
A |
T |
2: 165,146,849 (GRCm39) |
F243I |
possibly damaging |
Het |
Endou |
G |
A |
15: 97,618,126 (GRCm39) |
P128L |
probably benign |
Het |
Fat3 |
A |
G |
9: 15,908,214 (GRCm39) |
M2596T |
probably benign |
Het |
Fbxl16 |
A |
G |
17: 26,035,703 (GRCm39) |
K100R |
probably benign |
Het |
Fbxo10 |
A |
G |
4: 45,062,230 (GRCm39) |
S99P |
possibly damaging |
Het |
Fez1 |
A |
T |
9: 36,778,999 (GRCm39) |
R225S |
probably benign |
Het |
Gm14326 |
A |
T |
2: 177,588,464 (GRCm39) |
H177Q |
probably damaging |
Het |
Gm32742 |
T |
A |
9: 51,054,546 (GRCm39) |
M1360L |
probably benign |
Het |
Hspg2 |
T |
C |
4: 137,271,677 (GRCm39) |
V2481A |
possibly damaging |
Het |
Ifnl3 |
A |
G |
7: 28,223,283 (GRCm39) |
K101E |
probably benign |
Het |
Il15 |
A |
T |
8: 83,064,204 (GRCm39) |
S77R |
probably damaging |
Het |
Ints13 |
T |
C |
6: 146,476,216 (GRCm39) |
D95G |
probably damaging |
Het |
Kcmf1 |
G |
A |
6: 72,819,929 (GRCm39) |
P357S |
probably benign |
Het |
Kcmf1 |
G |
T |
6: 72,825,289 (GRCm39) |
T268K |
probably benign |
Het |
Kmt2d |
A |
T |
15: 98,748,153 (GRCm39) |
I3057N |
unknown |
Het |
Lgi2 |
A |
G |
5: 52,695,832 (GRCm39) |
F376L |
probably damaging |
Het |
Lrig3 |
T |
G |
10: 125,832,993 (GRCm39) |
L289R |
probably damaging |
Het |
Mafk |
A |
G |
5: 139,785,876 (GRCm39) |
S25G |
probably benign |
Het |
Mpz |
T |
C |
1: 170,987,204 (GRCm39) |
|
probably null |
Het |
Nalcn |
A |
C |
14: 123,515,761 (GRCm39) |
I1680R |
probably benign |
Het |
Or13d1 |
C |
T |
4: 52,971,470 (GRCm39) |
P283L |
probably damaging |
Het |
Or5ak24 |
T |
A |
2: 85,260,902 (GRCm39) |
K90N |
probably benign |
Het |
Or5g26 |
C |
T |
2: 85,494,518 (GRCm39) |
V87M |
possibly damaging |
Het |
Or5p62 |
A |
T |
7: 107,771,701 (GRCm39) |
N83K |
probably benign |
Het |
Otof |
A |
C |
5: 30,528,912 (GRCm39) |
I1827S |
possibly damaging |
Het |
Oxgr1 |
A |
G |
14: 120,259,614 (GRCm39) |
Y198H |
probably damaging |
Het |
P3h2 |
T |
A |
16: 25,784,559 (GRCm39) |
N645I |
probably damaging |
Het |
Pbld2 |
A |
G |
10: 62,889,691 (GRCm39) |
T158A |
probably benign |
Het |
Pdgfrb |
C |
T |
18: 61,206,315 (GRCm39) |
R608C |
probably damaging |
Het |
Pdia5 |
T |
C |
16: 35,228,049 (GRCm39) |
T408A |
probably benign |
Het |
Pik3cg |
A |
G |
12: 32,226,845 (GRCm39) |
V1014A |
probably benign |
Het |
Prpf8 |
A |
G |
11: 75,399,374 (GRCm39) |
T2180A |
probably damaging |
Het |
Rabgap1l |
A |
T |
1: 160,551,742 (GRCm39) |
Y245* |
probably null |
Het |
Rerg |
T |
C |
6: 137,044,033 (GRCm39) |
T28A |
possibly damaging |
Het |
Rhcg |
A |
G |
7: 79,249,216 (GRCm39) |
I335T |
probably damaging |
Het |
Rmnd1 |
C |
T |
10: 4,353,873 (GRCm39) |
V78I |
probably damaging |
Het |
Ryr2 |
A |
C |
13: 11,664,662 (GRCm39) |
V3547G |
probably benign |
Het |
Scnn1a |
C |
A |
6: 125,314,770 (GRCm39) |
Q324K |
probably benign |
Het |
Serpinb6e |
G |
A |
13: 34,016,698 (GRCm39) |
T345I |
probably damaging |
Het |
Smim45 |
A |
T |
15: 82,136,774 (GRCm39) |
|
probably benign |
Het |
Speer4f2 |
A |
C |
5: 17,581,661 (GRCm39) |
H201P |
|
Het |
Spef2 |
G |
A |
15: 9,725,257 (GRCm39) |
R167C |
probably damaging |
Het |
Srp68 |
A |
G |
11: 116,162,733 (GRCm39) |
|
probably null |
Het |
Tbc1d14 |
A |
T |
5: 36,669,884 (GRCm39) |
F455I |
probably benign |
Het |
Tet3 |
A |
G |
6: 83,432,006 (GRCm39) |
V10A |
possibly damaging |
Het |
Tlr3 |
A |
T |
8: 45,850,810 (GRCm39) |
S696T |
probably benign |
Het |
Tmem63b |
T |
C |
17: 45,978,709 (GRCm39) |
N300S |
probably benign |
Het |
Tmprss11g |
T |
C |
5: 86,637,150 (GRCm39) |
I328M |
probably damaging |
Het |
Tpm3 |
C |
T |
3: 89,980,029 (GRCm39) |
|
probably benign |
Het |
Trim28 |
T |
A |
7: 12,758,833 (GRCm39) |
L63Q |
probably damaging |
Het |
Unc5b |
G |
A |
10: 60,613,265 (GRCm39) |
R324C |
probably damaging |
Het |
Vmn1r236 |
T |
A |
17: 21,507,204 (GRCm39) |
N107K |
possibly damaging |
Het |
Vmn2r88 |
A |
G |
14: 51,656,100 (GRCm39) |
T770A |
|
Het |
Zcchc2 |
C |
A |
1: 105,958,211 (GRCm39) |
P894Q |
probably damaging |
Het |
Zfhx2 |
A |
G |
14: 55,303,229 (GRCm39) |
V1585A |
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 |
|
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 |
|