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 |
Emsy |
T |
G |
7: 98,275,830 (GRCm39) |
K352N |
probably damaging |
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 |
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 Hps6 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00743:Hps6
|
APN |
19 |
45,992,099 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02826:Hps6
|
APN |
19 |
45,994,480 (GRCm39) |
makesense |
probably null |
|
stamper-coat
|
UTSW |
19 |
45,992,275 (GRCm39) |
missense |
probably damaging |
1.00 |
R0299:Hps6
|
UTSW |
19 |
45,992,671 (GRCm39) |
missense |
probably damaging |
0.98 |
R0613:Hps6
|
UTSW |
19 |
45,992,260 (GRCm39) |
missense |
probably benign |
|
R1036:Hps6
|
UTSW |
19 |
45,992,680 (GRCm39) |
missense |
probably benign |
0.00 |
R1845:Hps6
|
UTSW |
19 |
45,993,409 (GRCm39) |
missense |
probably benign |
0.30 |
R1959:Hps6
|
UTSW |
19 |
45,992,774 (GRCm39) |
missense |
probably benign |
0.33 |
R2332:Hps6
|
UTSW |
19 |
45,992,930 (GRCm39) |
missense |
possibly damaging |
0.82 |
R3156:Hps6
|
UTSW |
19 |
45,992,180 (GRCm39) |
missense |
probably damaging |
1.00 |
R3937:Hps6
|
UTSW |
19 |
45,992,492 (GRCm39) |
missense |
probably damaging |
0.97 |
R7108:Hps6
|
UTSW |
19 |
45,993,929 (GRCm39) |
missense |
probably damaging |
1.00 |
R7384:Hps6
|
UTSW |
19 |
45,992,456 (GRCm39) |
missense |
possibly damaging |
0.96 |
R7710:Hps6
|
UTSW |
19 |
45,993,007 (GRCm39) |
missense |
probably benign |
0.03 |
R8444:Hps6
|
UTSW |
19 |
45,993,867 (GRCm39) |
missense |
possibly damaging |
0.72 |
R8530:Hps6
|
UTSW |
19 |
45,991,959 (GRCm39) |
start gained |
probably benign |
|
R8773:Hps6
|
UTSW |
19 |
45,994,141 (GRCm39) |
missense |
possibly damaging |
0.92 |
R8868:Hps6
|
UTSW |
19 |
45,992,446 (GRCm39) |
missense |
possibly damaging |
0.89 |
R9329:Hps6
|
UTSW |
19 |
45,992,542 (GRCm39) |
missense |
probably benign |
0.00 |
R9385:Hps6
|
UTSW |
19 |
45,994,349 (GRCm39) |
missense |
probably damaging |
0.97 |
R9803:Hps6
|
UTSW |
19 |
45,993,947 (GRCm39) |
nonsense |
probably null |
|
X0065:Hps6
|
UTSW |
19 |
45,992,605 (GRCm39) |
missense |
possibly damaging |
0.82 |
|