Other mutations in this stock |
Total: 92 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930522L14Rik |
A |
G |
5: 109,884,926 (GRCm39) |
|
probably benign |
Het |
Abcd2 |
C |
T |
15: 91,043,327 (GRCm39) |
M620I |
probably benign |
Het |
Ada |
T |
A |
2: 163,572,271 (GRCm39) |
I243F |
probably benign |
Het |
Adam12 |
T |
C |
7: 133,576,145 (GRCm39) |
|
probably null |
Het |
Adarb2 |
A |
T |
13: 8,253,224 (GRCm39) |
|
probably benign |
Het |
Adk |
A |
C |
14: 21,473,604 (GRCm39) |
Q287P |
probably benign |
Het |
Ahnak |
A |
G |
19: 8,986,771 (GRCm39) |
|
probably benign |
Het |
Aoc3 |
C |
T |
11: 101,222,432 (GRCm39) |
R223W |
probably damaging |
Het |
Aqp11 |
T |
C |
7: 97,378,228 (GRCm39) |
D229G |
probably benign |
Het |
Arhgap28 |
A |
G |
17: 68,203,220 (GRCm39) |
S78P |
probably damaging |
Het |
Bfsp2 |
T |
A |
9: 103,303,854 (GRCm39) |
E383D |
possibly damaging |
Het |
Bmpr1b |
A |
T |
3: 141,563,191 (GRCm39) |
V251D |
possibly damaging |
Het |
Calhm1 |
C |
T |
19: 47,132,280 (GRCm39) |
V112I |
probably benign |
Het |
Catsperd |
A |
G |
17: 56,966,554 (GRCm39) |
D508G |
probably damaging |
Het |
Cfap54 |
A |
G |
10: 92,710,805 (GRCm39) |
|
probably null |
Het |
Cfap70 |
A |
T |
14: 20,498,631 (GRCm39) |
Y19N |
probably damaging |
Het |
Chga |
A |
T |
12: 102,529,210 (GRCm39) |
R396* |
probably null |
Het |
Cntnap3 |
T |
C |
13: 64,926,690 (GRCm39) |
E560G |
probably damaging |
Het |
Csmd1 |
T |
C |
8: 15,971,759 (GRCm39) |
T3024A |
probably damaging |
Het |
Csrnp1 |
CCCTCCTCCTCCTCCTCCTC |
CCCTCCTCCTCCTCCTC |
9: 119,801,841 (GRCm39) |
|
probably benign |
Het |
Cysltr1 |
A |
G |
X: 105,622,261 (GRCm39) |
V75A |
possibly damaging |
Het |
Dnaaf11 |
T |
A |
15: 66,252,323 (GRCm39) |
M448L |
probably benign |
Het |
Dnah2 |
A |
T |
11: 69,313,952 (GRCm39) |
M4140K |
probably damaging |
Het |
Dph5 |
A |
G |
3: 115,722,352 (GRCm39) |
S277G |
probably benign |
Het |
Eftud2 |
A |
T |
11: 102,755,597 (GRCm39) |
D203E |
probably damaging |
Het |
Egf |
A |
G |
3: 129,499,882 (GRCm39) |
Y252H |
probably benign |
Het |
Egf |
A |
G |
3: 129,531,198 (GRCm39) |
S126P |
probably damaging |
Het |
Faf1 |
C |
T |
4: 109,748,138 (GRCm39) |
A481V |
probably benign |
Het |
Fat2 |
A |
T |
11: 55,153,655 (GRCm39) |
V3519D |
probably damaging |
Het |
Fbln7 |
C |
A |
2: 128,719,431 (GRCm39) |
A76E |
probably benign |
Het |
Galnt1 |
A |
T |
18: 24,387,582 (GRCm39) |
K49N |
probably benign |
Het |
Glb1 |
ACCC |
ACC |
9: 114,250,812 (GRCm39) |
|
probably null |
Het |
Grk1 |
T |
C |
8: 13,459,279 (GRCm39) |
Y277H |
probably damaging |
Het |
Hap1 |
A |
G |
11: 100,240,131 (GRCm39) |
L555P |
probably damaging |
Het |
Ier3 |
T |
C |
17: 36,133,000 (GRCm39) |
I94T |
possibly damaging |
Het |
Il11 |
T |
C |
7: 4,779,023 (GRCm39) |
T36A |
probably damaging |
Het |
Il5ra |
A |
T |
6: 106,708,851 (GRCm39) |
D296E |
probably damaging |
Het |
Itk |
A |
T |
11: 46,222,816 (GRCm39) |
V551E |
probably damaging |
Het |
Kcna2 |
T |
A |
3: 107,012,476 (GRCm39) |
D352E |
probably benign |
Het |
Kif5a |
A |
T |
10: 127,071,521 (GRCm39) |
S776T |
probably benign |
Het |
Klrb1c |
T |
C |
6: 128,757,366 (GRCm39) |
E233G |
probably benign |
Het |
Kpna7 |
T |
C |
5: 144,944,804 (GRCm39) |
K12R |
possibly damaging |
Het |
Lhpp |
C |
T |
7: 132,212,406 (GRCm39) |
|
probably benign |
Het |
Lhx8 |
A |
T |
3: 154,033,808 (GRCm39) |
|
probably null |
Het |
Man1a |
A |
G |
10: 53,950,594 (GRCm39) |
V176A |
probably damaging |
Het |
Mapkbp1 |
T |
A |
2: 119,853,632 (GRCm39) |
M1152K |
probably benign |
Het |
Mcoln3 |
T |
A |
3: 145,846,331 (GRCm39) |
L547* |
probably null |
Het |
Myof |
T |
C |
19: 37,904,952 (GRCm39) |
D1624G |
probably damaging |
Het |
Myom2 |
T |
C |
8: 15,154,123 (GRCm39) |
V687A |
probably benign |
Het |
Nav1 |
C |
A |
1: 135,379,945 (GRCm39) |
V1586F |
possibly damaging |
Het |
Ndufb8 |
T |
C |
19: 44,538,784 (GRCm39) |
E179G |
possibly damaging |
Het |
Nfam1 |
T |
C |
15: 82,885,684 (GRCm39) |
T223A |
probably damaging |
Het |
Nrcam |
T |
A |
12: 44,598,124 (GRCm39) |
V371E |
probably damaging |
Het |
Nup210l |
A |
G |
3: 90,087,518 (GRCm39) |
Q1097R |
probably null |
Het |
Obox5 |
T |
A |
7: 15,491,571 (GRCm39) |
M37K |
probably damaging |
Het |
Obscn |
A |
T |
11: 58,952,356 (GRCm39) |
N4270K |
probably benign |
Het |
Or4d2 |
G |
A |
11: 87,784,022 (GRCm39) |
H243Y |
probably damaging |
Het |
Or5ak25 |
T |
A |
2: 85,268,630 (GRCm39) |
S291C |
probably damaging |
Het |
Or6c1 |
A |
G |
10: 129,517,708 (GRCm39) |
M300T |
probably benign |
Het |
Or8c15 |
G |
A |
9: 38,120,360 (GRCm39) |
A2T |
probably benign |
Het |
Or8k16 |
T |
C |
2: 85,520,183 (GRCm39) |
S137P |
possibly damaging |
Het |
Patj |
G |
A |
4: 98,562,545 (GRCm39) |
E1505K |
probably damaging |
Het |
Pnliprp1 |
T |
A |
19: 58,726,628 (GRCm39) |
Y328* |
probably null |
Het |
Ppp1r36 |
G |
A |
12: 76,465,741 (GRCm39) |
E43K |
probably damaging |
Het |
Ptch1 |
C |
T |
13: 63,668,121 (GRCm39) |
V939I |
probably damaging |
Het |
Rgs22 |
C |
A |
15: 36,093,084 (GRCm39) |
K396N |
probably damaging |
Het |
Rsrc1 |
A |
T |
3: 67,088,194 (GRCm39) |
H176L |
probably damaging |
Het |
Ryr3 |
A |
T |
2: 112,492,046 (GRCm39) |
F3743L |
probably damaging |
Het |
Scn7a |
C |
T |
2: 66,506,084 (GRCm39) |
G1602R |
probably benign |
Het |
Sftpc |
A |
T |
14: 70,760,110 (GRCm39) |
V49E |
probably damaging |
Het |
Slc16a10 |
A |
G |
10: 39,916,612 (GRCm39) |
V430A |
probably benign |
Het |
Slco4c1 |
A |
C |
1: 96,795,645 (GRCm39) |
S138A |
possibly damaging |
Het |
Snd1 |
T |
C |
6: 28,724,955 (GRCm39) |
I501T |
probably benign |
Het |
Stxbp2 |
T |
A |
8: 3,682,559 (GRCm39) |
D49E |
probably damaging |
Het |
Sytl4 |
A |
T |
X: 132,862,936 (GRCm39) |
D16E |
probably benign |
Het |
Tbc1d9b |
G |
A |
11: 50,035,894 (GRCm39) |
G130E |
probably benign |
Het |
Tdrd6 |
T |
A |
17: 43,936,452 (GRCm39) |
D1532V |
probably damaging |
Het |
Tekt1 |
T |
C |
11: 72,242,778 (GRCm39) |
D243G |
probably damaging |
Het |
Tet2 |
A |
G |
3: 133,192,427 (GRCm39) |
L669S |
possibly damaging |
Het |
Tnnt3 |
A |
G |
7: 142,066,072 (GRCm39) |
N201S |
probably benign |
Het |
Trdn |
A |
G |
10: 33,342,417 (GRCm39) |
|
probably null |
Het |
Trim36 |
T |
C |
18: 46,311,523 (GRCm39) |
E259G |
possibly damaging |
Het |
Trpm1 |
C |
T |
7: 63,870,002 (GRCm39) |
P436S |
probably benign |
Het |
Vmn1r183 |
T |
A |
7: 23,754,926 (GRCm39) |
L243Q |
probably damaging |
Het |
Vps13b |
T |
C |
15: 35,597,555 (GRCm39) |
S1032P |
probably damaging |
Het |
Vps37d |
T |
C |
5: 135,105,395 (GRCm39) |
E76G |
probably damaging |
Het |
Vps72 |
A |
G |
3: 95,028,615 (GRCm39) |
H202R |
probably benign |
Het |
Wdr75 |
T |
C |
1: 45,858,762 (GRCm39) |
S644P |
probably damaging |
Het |
Wrn |
T |
A |
8: 33,770,843 (GRCm39) |
E697V |
possibly damaging |
Het |
Xirp2 |
A |
G |
2: 67,345,262 (GRCm39) |
D2501G |
probably benign |
Het |
Zfp472 |
T |
C |
17: 33,194,936 (GRCm39) |
W24R |
probably damaging |
Het |
Zmym6 |
T |
C |
4: 127,016,565 (GRCm39) |
V782A |
probably damaging |
Het |
|
Other mutations in Magel2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00948:Magel2
|
APN |
7 |
62,029,070 (GRCm39) |
missense |
unknown |
|
IGL01391:Magel2
|
APN |
7 |
62,030,632 (GRCm39) |
missense |
unknown |
|
IGL01876:Magel2
|
APN |
7 |
62,028,575 (GRCm39) |
missense |
possibly damaging |
0.68 |
IGL02613:Magel2
|
APN |
7 |
62,029,946 (GRCm39) |
missense |
unknown |
|
IGL02617:Magel2
|
APN |
7 |
62,029,946 (GRCm39) |
missense |
unknown |
|
IGL03256:Magel2
|
APN |
7 |
62,030,162 (GRCm39) |
missense |
unknown |
|
IGL03382:Magel2
|
APN |
7 |
62,028,461 (GRCm39) |
missense |
probably benign |
0.00 |
astroclast2
|
UTSW |
7 |
62,029,907 (GRCm39) |
missense |
unknown |
|
IGL02837:Magel2
|
UTSW |
7 |
62,028,008 (GRCm39) |
missense |
possibly damaging |
0.93 |
R0398:Magel2
|
UTSW |
7 |
62,030,299 (GRCm39) |
nonsense |
probably null |
|
R1033:Magel2
|
UTSW |
7 |
62,029,798 (GRCm39) |
missense |
unknown |
|
R1271:Magel2
|
UTSW |
7 |
62,030,762 (GRCm39) |
missense |
unknown |
|
R1518:Magel2
|
UTSW |
7 |
62,030,188 (GRCm39) |
missense |
unknown |
|
R1539:Magel2
|
UTSW |
7 |
62,028,557 (GRCm39) |
missense |
possibly damaging |
0.91 |
R1682:Magel2
|
UTSW |
7 |
62,029,983 (GRCm39) |
missense |
unknown |
|
R1686:Magel2
|
UTSW |
7 |
62,027,988 (GRCm39) |
missense |
possibly damaging |
0.53 |
R1782:Magel2
|
UTSW |
7 |
62,030,605 (GRCm39) |
nonsense |
probably null |
|
R1785:Magel2
|
UTSW |
7 |
62,027,486 (GRCm39) |
missense |
unknown |
|
R1786:Magel2
|
UTSW |
7 |
62,027,486 (GRCm39) |
missense |
unknown |
|
R1950:Magel2
|
UTSW |
7 |
62,028,163 (GRCm39) |
missense |
possibly damaging |
0.48 |
R2001:Magel2
|
UTSW |
7 |
62,028,844 (GRCm39) |
missense |
unknown |
|
R2002:Magel2
|
UTSW |
7 |
62,028,844 (GRCm39) |
missense |
unknown |
|
R2018:Magel2
|
UTSW |
7 |
62,028,844 (GRCm39) |
missense |
unknown |
|
R2019:Magel2
|
UTSW |
7 |
62,028,844 (GRCm39) |
missense |
unknown |
|
R2029:Magel2
|
UTSW |
7 |
62,030,342 (GRCm39) |
missense |
unknown |
|
R2070:Magel2
|
UTSW |
7 |
62,028,844 (GRCm39) |
missense |
unknown |
|
R2131:Magel2
|
UTSW |
7 |
62,027,486 (GRCm39) |
missense |
unknown |
|
R2132:Magel2
|
UTSW |
7 |
62,027,486 (GRCm39) |
missense |
unknown |
|
R2133:Magel2
|
UTSW |
7 |
62,027,486 (GRCm39) |
missense |
unknown |
|
R2134:Magel2
|
UTSW |
7 |
62,028,844 (GRCm39) |
missense |
unknown |
|
R2155:Magel2
|
UTSW |
7 |
62,030,540 (GRCm39) |
missense |
unknown |
|
R4294:Magel2
|
UTSW |
7 |
62,028,515 (GRCm39) |
missense |
possibly damaging |
0.86 |
R4591:Magel2
|
UTSW |
7 |
62,030,837 (GRCm39) |
missense |
unknown |
|
R4621:Magel2
|
UTSW |
7 |
62,027,486 (GRCm39) |
missense |
unknown |
|
R4816:Magel2
|
UTSW |
7 |
62,030,840 (GRCm39) |
missense |
unknown |
|
R4931:Magel2
|
UTSW |
7 |
62,030,372 (GRCm39) |
missense |
unknown |
|
R5031:Magel2
|
UTSW |
7 |
62,029,852 (GRCm39) |
missense |
unknown |
|
R5034:Magel2
|
UTSW |
7 |
62,029,616 (GRCm39) |
missense |
unknown |
|
R5042:Magel2
|
UTSW |
7 |
62,029,354 (GRCm39) |
missense |
unknown |
|
R5600:Magel2
|
UTSW |
7 |
62,029,514 (GRCm39) |
missense |
unknown |
|
R5769:Magel2
|
UTSW |
7 |
62,027,861 (GRCm39) |
missense |
probably benign |
0.02 |
R5980:Magel2
|
UTSW |
7 |
62,030,344 (GRCm39) |
missense |
unknown |
|
R5987:Magel2
|
UTSW |
7 |
62,028,515 (GRCm39) |
missense |
probably benign |
0.33 |
R6187:Magel2
|
UTSW |
7 |
62,027,389 (GRCm39) |
missense |
unknown |
|
R6267:Magel2
|
UTSW |
7 |
62,028,427 (GRCm39) |
missense |
probably damaging |
0.98 |
R6270:Magel2
|
UTSW |
7 |
62,030,406 (GRCm39) |
nonsense |
probably null |
|
R6316:Magel2
|
UTSW |
7 |
62,028,467 (GRCm39) |
missense |
possibly damaging |
0.68 |
R6444:Magel2
|
UTSW |
7 |
62,029,747 (GRCm39) |
missense |
unknown |
|
R6452:Magel2
|
UTSW |
7 |
62,030,132 (GRCm39) |
missense |
unknown |
|
R6797:Magel2
|
UTSW |
7 |
62,029,907 (GRCm39) |
missense |
unknown |
|
R6917:Magel2
|
UTSW |
7 |
62,027,592 (GRCm39) |
small deletion |
probably benign |
|
R7011:Magel2
|
UTSW |
7 |
62,028,281 (GRCm39) |
missense |
possibly damaging |
0.92 |
R7025:Magel2
|
UTSW |
7 |
62,029,535 (GRCm39) |
missense |
unknown |
|
R7335:Magel2
|
UTSW |
7 |
62,030,524 (GRCm39) |
missense |
unknown |
|
R7353:Magel2
|
UTSW |
7 |
62,029,079 (GRCm39) |
missense |
unknown |
|
R7413:Magel2
|
UTSW |
7 |
62,027,592 (GRCm39) |
small deletion |
probably benign |
|
R7570:Magel2
|
UTSW |
7 |
62,028,658 (GRCm39) |
missense |
possibly damaging |
0.53 |
R7714:Magel2
|
UTSW |
7 |
62,028,130 (GRCm39) |
missense |
probably benign |
0.08 |
R7836:Magel2
|
UTSW |
7 |
62,028,116 (GRCm39) |
missense |
possibly damaging |
0.73 |
R8289:Magel2
|
UTSW |
7 |
62,028,875 (GRCm39) |
missense |
unknown |
|
R8717:Magel2
|
UTSW |
7 |
62,027,420 (GRCm39) |
missense |
unknown |
|
R8903:Magel2
|
UTSW |
7 |
62,029,441 (GRCm39) |
missense |
unknown |
|
R8911:Magel2
|
UTSW |
7 |
62,029,537 (GRCm39) |
missense |
unknown |
|
R8971:Magel2
|
UTSW |
7 |
62,029,999 (GRCm39) |
missense |
unknown |
|
R9096:Magel2
|
UTSW |
7 |
62,030,297 (GRCm39) |
missense |
unknown |
|
R9264:Magel2
|
UTSW |
7 |
62,028,344 (GRCm39) |
missense |
possibly damaging |
0.95 |
RF022:Magel2
|
UTSW |
7 |
62,029,841 (GRCm39) |
missense |
unknown |
|
Z1088:Magel2
|
UTSW |
7 |
62,028,725 (GRCm39) |
missense |
possibly damaging |
0.53 |
Z1177:Magel2
|
UTSW |
7 |
62,029,355 (GRCm39) |
missense |
unknown |
|
|