Other mutations in this stock |
Total: 82 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310057J18Rik |
T |
A |
10: 28,857,575 (GRCm39) |
Q194L |
probably damaging |
Het |
Acsf2 |
T |
A |
11: 94,449,699 (GRCm39) |
K574* |
probably null |
Het |
Adam22 |
T |
C |
5: 8,171,108 (GRCm39) |
E614G |
probably damaging |
Het |
Ap4e1 |
T |
C |
2: 126,889,083 (GRCm39) |
|
probably null |
Het |
Arid3c |
T |
A |
4: 41,724,744 (GRCm39) |
I364F |
probably damaging |
Het |
Bcan |
T |
A |
3: 87,900,401 (GRCm39) |
S611C |
probably damaging |
Het |
Birc6 |
T |
C |
17: 74,909,966 (GRCm39) |
V1453A |
probably benign |
Het |
Carnmt1 |
T |
C |
19: 18,680,734 (GRCm39) |
L336P |
probably damaging |
Het |
Ccdc146 |
C |
A |
5: 21,604,719 (GRCm39) |
D40Y |
probably benign |
Het |
Ccdc83 |
C |
T |
7: 89,873,285 (GRCm39) |
V357I |
probably damaging |
Het |
Cdh22 |
A |
T |
2: 164,985,767 (GRCm39) |
|
probably null |
Het |
Cdk5rap2 |
A |
C |
4: 70,184,915 (GRCm39) |
S1178R |
probably benign |
Het |
Cdkl3 |
T |
C |
11: 51,923,322 (GRCm39) |
V45A |
probably benign |
Het |
Chd7 |
A |
G |
4: 8,785,532 (GRCm39) |
D612G |
probably damaging |
Het |
Chst11 |
T |
C |
10: 83,027,004 (GRCm39) |
Y144H |
probably damaging |
Het |
Cops6 |
A |
T |
5: 138,159,403 (GRCm39) |
N10I |
probably benign |
Het |
Cyfip1 |
G |
T |
7: 55,549,705 (GRCm39) |
R624L |
probably null |
Het |
Cyp27a1 |
A |
G |
1: 74,775,846 (GRCm39) |
N344D |
probably damaging |
Het |
Des |
T |
G |
1: 75,340,137 (GRCm39) |
M348R |
probably damaging |
Het |
Dis3l |
T |
A |
9: 64,238,165 (GRCm39) |
D109V |
probably damaging |
Het |
Disp3 |
C |
T |
4: 148,356,059 (GRCm39) |
R267Q |
possibly damaging |
Het |
Dnah3 |
T |
A |
7: 119,574,352 (GRCm39) |
I2136F |
probably benign |
Het |
Dnah9 |
T |
C |
11: 66,003,188 (GRCm39) |
D872G |
probably benign |
Het |
Dnajb14 |
G |
A |
3: 137,591,141 (GRCm39) |
G31S |
probably benign |
Het |
Dop1a |
T |
G |
9: 86,376,471 (GRCm39) |
V235G |
probably damaging |
Het |
Efcab6 |
T |
A |
15: 83,831,200 (GRCm39) |
R571S |
probably benign |
Het |
Erbb4 |
T |
C |
1: 68,238,047 (GRCm39) |
N814S |
probably damaging |
Het |
Fgfbp1 |
T |
A |
5: 44,136,672 (GRCm39) |
M207L |
probably benign |
Het |
Filip1 |
T |
C |
9: 79,727,212 (GRCm39) |
E469G |
probably damaging |
Het |
Garem2 |
T |
G |
5: 30,321,972 (GRCm39) |
L777R |
probably damaging |
Het |
Garin5b |
T |
A |
7: 4,761,186 (GRCm39) |
T509S |
probably benign |
Het |
Hkdc1 |
T |
C |
10: 62,253,677 (GRCm39) |
T35A |
probably benign |
Het |
Hps6 |
C |
T |
19: 45,994,121 (GRCm39) |
A686V |
possibly damaging |
Het |
Irs1 |
T |
C |
1: 82,266,180 (GRCm39) |
S679G |
probably benign |
Het |
Ism1 |
T |
A |
2: 139,599,293 (GRCm39) |
I415N |
probably damaging |
Het |
Kdm1b |
TCATTGTCC |
TCATTGTCCATTGTCC |
13: 47,217,564 (GRCm39) |
|
probably null |
Het |
Kpna1 |
G |
A |
16: 35,851,591 (GRCm39) |
A392T |
probably damaging |
Het |
Lipa |
T |
A |
19: 34,488,290 (GRCm39) |
R119* |
probably null |
Het |
Lrrc37 |
T |
C |
11: 103,505,033 (GRCm39) |
T2312A |
possibly damaging |
Het |
Mocs1 |
A |
T |
17: 49,756,137 (GRCm39) |
K198M |
probably damaging |
Het |
Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
Msh5 |
A |
G |
17: 35,263,366 (GRCm39) |
I154T |
probably benign |
Het |
Muc6 |
T |
A |
7: 141,217,423 (GRCm39) |
T2417S |
possibly damaging |
Het |
Ncbp2 |
T |
C |
16: 31,775,769 (GRCm39) |
Y138H |
probably damaging |
Het |
Ndufv1 |
C |
A |
19: 4,058,347 (GRCm39) |
R359L |
probably benign |
Het |
Neu3 |
G |
C |
7: 99,462,650 (GRCm39) |
R358G |
probably benign |
Het |
Ntrk3 |
A |
C |
7: 78,166,471 (GRCm39) |
|
probably null |
Het |
Or1n1 |
G |
A |
2: 36,749,637 (GRCm39) |
S241F |
probably damaging |
Het |
Or8b12i |
T |
A |
9: 20,082,705 (GRCm39) |
H54L |
possibly damaging |
Het |
Or8j3 |
A |
G |
2: 86,028,161 (GRCm39) |
F312L |
probably benign |
Het |
Pik3c2b |
T |
C |
1: 133,031,166 (GRCm39) |
S1491P |
probably benign |
Het |
Plb1 |
G |
T |
5: 32,450,586 (GRCm39) |
D376Y |
probably damaging |
Het |
Plch1 |
T |
A |
3: 63,651,956 (GRCm39) |
K378N |
probably damaging |
Het |
Plekhm1 |
C |
T |
11: 103,277,948 (GRCm39) |
E383K |
probably benign |
Het |
Plxnb1 |
T |
C |
9: 108,931,776 (GRCm39) |
|
probably null |
Het |
Prkdc |
A |
G |
16: 15,472,681 (GRCm39) |
|
probably null |
Het |
Prpf8 |
T |
A |
11: 75,386,189 (GRCm39) |
V946E |
probably damaging |
Het |
Psma5-ps |
A |
G |
10: 85,149,595 (GRCm39) |
|
noncoding transcript |
Het |
Ptprh |
C |
A |
7: 4,606,132 (GRCm39) |
|
probably benign |
Het |
Rngtt |
T |
A |
4: 33,500,302 (GRCm39) |
C565* |
probably null |
Het |
Sacs |
A |
G |
14: 61,442,109 (GRCm39) |
H1385R |
probably benign |
Het |
Sec24a |
A |
G |
11: 51,607,277 (GRCm39) |
S656P |
possibly damaging |
Het |
Serpinb13 |
A |
T |
1: 106,926,756 (GRCm39) |
I251L |
possibly damaging |
Het |
Shc1 |
G |
A |
3: 89,330,849 (GRCm39) |
G91S |
probably damaging |
Het |
Sin3b |
T |
A |
8: 73,460,047 (GRCm39) |
N211K |
probably benign |
Het |
Slc22a2 |
A |
T |
17: 12,805,692 (GRCm39) |
M148L |
probably benign |
Het |
Slc3a1 |
G |
A |
17: 85,371,220 (GRCm39) |
V591I |
probably benign |
Het |
Slc47a2 |
A |
T |
11: 61,219,352 (GRCm39) |
|
probably null |
Het |
Spag17 |
C |
T |
3: 100,014,113 (GRCm39) |
P2129S |
probably damaging |
Het |
Specc1l |
C |
T |
10: 75,081,438 (GRCm39) |
S278F |
probably damaging |
Het |
Sphkap |
T |
A |
1: 83,234,942 (GRCm39) |
D1628V |
probably damaging |
Het |
Themis3 |
C |
T |
17: 66,862,699 (GRCm39) |
V420I |
possibly damaging |
Het |
Ttc39d |
A |
G |
17: 80,524,675 (GRCm39) |
K445E |
probably damaging |
Het |
U2surp |
T |
C |
9: 95,373,473 (GRCm39) |
E232G |
possibly damaging |
Het |
Usp25 |
T |
A |
16: 76,873,317 (GRCm39) |
F458L |
probably damaging |
Het |
Usp7 |
T |
C |
16: 8,516,333 (GRCm39) |
S649G |
probably benign |
Het |
Vmn1r10 |
A |
G |
6: 57,091,088 (GRCm39) |
T227A |
probably damaging |
Het |
Zcchc12 |
C |
T |
X: 35,462,118 (GRCm39) |
T345M |
possibly damaging |
Het |
Zfp444 |
T |
C |
7: 6,192,554 (GRCm39) |
C191R |
probably damaging |
Het |
Zfp729b |
A |
T |
13: 67,740,352 (GRCm39) |
C648S |
probably damaging |
Het |
Zfp799 |
A |
G |
17: 33,040,777 (GRCm39) |
Y58H |
probably damaging |
Het |
Zfp938 |
C |
T |
10: 82,061,381 (GRCm39) |
G413D |
probably damaging |
Het |
|
Other mutations in Emsy |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01314:Emsy
|
APN |
7 |
98,242,662 (GRCm39) |
missense |
probably benign |
0.09 |
IGL01357:Emsy
|
APN |
7 |
98,240,077 (GRCm39) |
nonsense |
probably null |
|
IGL01620:Emsy
|
APN |
7 |
98,275,831 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01750:Emsy
|
APN |
7 |
98,268,508 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02032:Emsy
|
APN |
7 |
98,239,987 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL02388:Emsy
|
APN |
7 |
98,290,873 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03089:Emsy
|
APN |
7 |
98,286,473 (GRCm39) |
nonsense |
probably null |
|
IGL03272:Emsy
|
APN |
7 |
98,242,969 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL03347:Emsy
|
APN |
7 |
98,259,892 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03400:Emsy
|
APN |
7 |
98,251,933 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL02980:Emsy
|
UTSW |
7 |
98,268,587 (GRCm39) |
missense |
probably damaging |
0.97 |
R0576:Emsy
|
UTSW |
7 |
98,242,983 (GRCm39) |
missense |
probably damaging |
0.99 |
R1102:Emsy
|
UTSW |
7 |
98,251,796 (GRCm39) |
missense |
probably damaging |
0.97 |
R1323:Emsy
|
UTSW |
7 |
98,259,864 (GRCm39) |
splice site |
probably benign |
|
R1438:Emsy
|
UTSW |
7 |
98,270,613 (GRCm39) |
missense |
possibly damaging |
0.88 |
R1439:Emsy
|
UTSW |
7 |
98,250,048 (GRCm39) |
intron |
probably benign |
|
R1452:Emsy
|
UTSW |
7 |
98,249,881 (GRCm39) |
missense |
probably damaging |
0.96 |
R1515:Emsy
|
UTSW |
7 |
98,240,063 (GRCm39) |
missense |
probably damaging |
1.00 |
R1535:Emsy
|
UTSW |
7 |
98,242,944 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1791:Emsy
|
UTSW |
7 |
98,297,087 (GRCm39) |
missense |
probably damaging |
0.99 |
R1829:Emsy
|
UTSW |
7 |
98,251,937 (GRCm39) |
missense |
possibly damaging |
0.88 |
R1829:Emsy
|
UTSW |
7 |
98,251,936 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1848:Emsy
|
UTSW |
7 |
98,250,028 (GRCm39) |
missense |
probably damaging |
0.99 |
R1861:Emsy
|
UTSW |
7 |
98,290,822 (GRCm39) |
missense |
probably damaging |
1.00 |
R1929:Emsy
|
UTSW |
7 |
98,275,830 (GRCm39) |
missense |
probably damaging |
0.99 |
R1957:Emsy
|
UTSW |
7 |
98,297,027 (GRCm39) |
missense |
probably damaging |
1.00 |
R2221:Emsy
|
UTSW |
7 |
98,239,982 (GRCm39) |
missense |
possibly damaging |
0.83 |
R2223:Emsy
|
UTSW |
7 |
98,239,982 (GRCm39) |
missense |
possibly damaging |
0.83 |
R4078:Emsy
|
UTSW |
7 |
98,239,932 (GRCm39) |
missense |
probably damaging |
0.99 |
R4707:Emsy
|
UTSW |
7 |
98,246,311 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4783:Emsy
|
UTSW |
7 |
98,295,686 (GRCm39) |
missense |
possibly damaging |
0.74 |
R5453:Emsy
|
UTSW |
7 |
98,250,013 (GRCm39) |
missense |
probably damaging |
0.97 |
R5518:Emsy
|
UTSW |
7 |
98,242,818 (GRCm39) |
missense |
possibly damaging |
0.86 |
R5828:Emsy
|
UTSW |
7 |
98,242,699 (GRCm39) |
missense |
probably benign |
|
R5945:Emsy
|
UTSW |
7 |
98,268,590 (GRCm39) |
missense |
probably damaging |
0.97 |
R6153:Emsy
|
UTSW |
7 |
98,260,060 (GRCm39) |
missense |
probably damaging |
1.00 |
R6824:Emsy
|
UTSW |
7 |
98,242,614 (GRCm39) |
missense |
probably benign |
0.27 |
R7068:Emsy
|
UTSW |
7 |
98,259,968 (GRCm39) |
missense |
probably benign |
0.17 |
R7381:Emsy
|
UTSW |
7 |
98,240,010 (GRCm39) |
missense |
probably damaging |
0.98 |
R7417:Emsy
|
UTSW |
7 |
98,264,693 (GRCm39) |
missense |
probably damaging |
1.00 |
R7488:Emsy
|
UTSW |
7 |
98,264,762 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7499:Emsy
|
UTSW |
7 |
98,279,538 (GRCm39) |
missense |
possibly damaging |
0.59 |
R7646:Emsy
|
UTSW |
7 |
98,268,560 (GRCm39) |
missense |
probably damaging |
1.00 |
R7682:Emsy
|
UTSW |
7 |
98,239,905 (GRCm39) |
missense |
probably damaging |
0.99 |
R7716:Emsy
|
UTSW |
7 |
98,248,973 (GRCm39) |
missense |
unknown |
|
R7789:Emsy
|
UTSW |
7 |
98,270,696 (GRCm39) |
missense |
probably damaging |
1.00 |
R7794:Emsy
|
UTSW |
7 |
98,249,931 (GRCm39) |
missense |
probably benign |
0.30 |
R7832:Emsy
|
UTSW |
7 |
98,289,060 (GRCm39) |
missense |
probably damaging |
1.00 |
R7974:Emsy
|
UTSW |
7 |
98,279,425 (GRCm39) |
missense |
possibly damaging |
0.73 |
R7996:Emsy
|
UTSW |
7 |
98,242,888 (GRCm39) |
missense |
probably benign |
0.00 |
R8070:Emsy
|
UTSW |
7 |
98,275,922 (GRCm39) |
missense |
possibly damaging |
0.73 |
R8221:Emsy
|
UTSW |
7 |
98,297,111 (GRCm39) |
missense |
probably damaging |
1.00 |
R8472:Emsy
|
UTSW |
7 |
98,304,037 (GRCm39) |
start gained |
probably benign |
|
R8841:Emsy
|
UTSW |
7 |
98,264,768 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8998:Emsy
|
UTSW |
7 |
98,268,512 (GRCm39) |
missense |
possibly damaging |
0.63 |
R9063:Emsy
|
UTSW |
7 |
98,295,684 (GRCm39) |
missense |
probably damaging |
0.96 |
R9259:Emsy
|
UTSW |
7 |
98,242,757 (GRCm39) |
missense |
probably benign |
|
R9366:Emsy
|
UTSW |
7 |
98,290,860 (GRCm39) |
missense |
probably benign |
0.23 |
R9660:Emsy
|
UTSW |
7 |
98,262,285 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9729:Emsy
|
UTSW |
7 |
98,262,256 (GRCm39) |
missense |
probably benign |
0.01 |
X0067:Emsy
|
UTSW |
7 |
98,279,447 (GRCm39) |
missense |
possibly damaging |
0.65 |
Z1088:Emsy
|
UTSW |
7 |
98,249,929 (GRCm39) |
missense |
probably damaging |
0.96 |
|