Other mutations in this stock |
Total: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arid2 |
A |
G |
15: 96,259,680 (GRCm39) |
D280G |
probably damaging |
Het |
Atosa |
A |
G |
9: 74,917,672 (GRCm39) |
D757G |
probably damaging |
Het |
Azi2 |
C |
T |
9: 117,878,390 (GRCm39) |
R77* |
probably null |
Het |
Chd8 |
T |
C |
14: 52,468,950 (GRCm39) |
D556G |
probably benign |
Het |
Cit |
T |
C |
5: 116,085,983 (GRCm39) |
M849T |
probably damaging |
Het |
Cit |
T |
C |
5: 116,143,899 (GRCm39) |
S1923P |
probably damaging |
Het |
Col17a1 |
T |
A |
19: 47,639,185 (GRCm39) |
H1120L |
probably benign |
Het |
Col6a5 |
G |
T |
9: 105,814,193 (GRCm39) |
H606Q |
unknown |
Het |
Dnajc2 |
A |
C |
5: 21,981,788 (GRCm39) |
H45Q |
probably damaging |
Het |
Dpp6 |
A |
G |
5: 27,914,457 (GRCm39) |
D514G |
possibly damaging |
Het |
Dync2h1 |
A |
G |
9: 7,129,062 (GRCm39) |
S1818P |
probably damaging |
Het |
Emc1 |
G |
A |
4: 139,088,257 (GRCm39) |
E342K |
possibly damaging |
Het |
Fam3c |
T |
C |
6: 22,329,592 (GRCm39) |
D45G |
probably benign |
Het |
Fchsd2 |
A |
C |
7: 100,847,740 (GRCm39) |
D210A |
possibly damaging |
Het |
Flg |
T |
A |
3: 93,186,722 (GRCm39) |
M58K |
probably damaging |
Het |
Gabra5 |
G |
A |
7: 57,138,698 (GRCm39) |
R117C |
probably damaging |
Het |
Gm6741 |
G |
A |
17: 91,544,309 (GRCm39) |
S24N |
probably benign |
Het |
Grin2a |
T |
C |
16: 9,462,107 (GRCm39) |
D675G |
possibly damaging |
Het |
Hectd4 |
T |
G |
5: 121,419,981 (GRCm39) |
V642G |
possibly damaging |
Het |
Herc6 |
C |
T |
6: 57,560,317 (GRCm39) |
T119M |
probably benign |
Het |
Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
Hmgcs2 |
T |
C |
3: 98,206,530 (GRCm39) |
S371P |
probably damaging |
Het |
Idua |
C |
T |
5: 108,828,600 (GRCm39) |
A271V |
probably damaging |
Het |
Inpp5d |
T |
A |
1: 87,623,072 (GRCm39) |
C125* |
probably null |
Het |
Krt14 |
C |
T |
11: 100,098,044 (GRCm39) |
G80R |
unknown |
Het |
Lama5 |
T |
C |
2: 179,820,923 (GRCm39) |
Y3176C |
probably benign |
Het |
Lce1k |
C |
T |
3: 92,713,809 (GRCm39) |
C125Y |
unknown |
Het |
Lig4 |
A |
T |
8: 10,022,436 (GRCm39) |
L448Q |
probably damaging |
Het |
Macf1 |
C |
T |
4: 123,265,711 (GRCm39) |
A4821T |
probably damaging |
Het |
Meioc |
C |
T |
11: 102,566,184 (GRCm39) |
A600V |
probably benign |
Het |
Mepe |
T |
C |
5: 104,474,957 (GRCm39) |
S13P |
possibly damaging |
Het |
Mms22l |
A |
G |
4: 24,588,365 (GRCm39) |
Y999C |
probably damaging |
Het |
Ncbp3 |
T |
A |
11: 72,944,346 (GRCm39) |
M116K |
possibly damaging |
Het |
Ndufa10 |
A |
G |
1: 92,367,614 (GRCm39) |
Y339H |
probably damaging |
Het |
Nkx3-1 |
T |
C |
14: 69,428,266 (GRCm39) |
I38T |
probably damaging |
Het |
Nup155 |
A |
T |
15: 8,187,244 (GRCm39) |
H1391L |
probably damaging |
Het |
Or4k49 |
T |
A |
2: 111,495,168 (GRCm39) |
M199K |
possibly damaging |
Het |
Padi6 |
T |
G |
4: 140,456,279 (GRCm39) |
I572L |
possibly damaging |
Het |
Pdss2 |
A |
T |
10: 43,269,871 (GRCm39) |
N238I |
possibly damaging |
Het |
Pkd1l2 |
A |
G |
8: 117,746,272 (GRCm39) |
V1906A |
probably benign |
Het |
Pom121 |
T |
C |
5: 135,410,404 (GRCm39) |
|
probably benign |
Het |
Psmd9 |
T |
C |
5: 123,379,925 (GRCm39) |
F115L |
probably damaging |
Het |
Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
Rai1 |
T |
C |
11: 60,076,415 (GRCm39) |
F160L |
probably damaging |
Het |
Rhbdl2 |
A |
T |
4: 123,720,665 (GRCm39) |
R234S |
probably damaging |
Het |
Rnase2a |
T |
A |
14: 51,493,245 (GRCm39) |
Y40F |
probably damaging |
Het |
Setd2 |
T |
C |
9: 110,378,201 (GRCm39) |
V672A |
possibly damaging |
Het |
Sgpp2 |
A |
G |
1: 78,393,857 (GRCm39) |
I287V |
probably benign |
Het |
Sh3pxd2a |
T |
C |
19: 47,255,703 (GRCm39) |
E1033G |
probably benign |
Het |
Slc5a9 |
G |
A |
4: 111,747,728 (GRCm39) |
T284I |
probably damaging |
Het |
Slfn9 |
A |
G |
11: 82,872,507 (GRCm39) |
L743P |
probably damaging |
Het |
Smchd1 |
T |
A |
17: 71,677,923 (GRCm39) |
N1473I |
probably benign |
Het |
Stx1b |
A |
T |
7: 127,414,575 (GRCm39) |
D16E |
probably benign |
Het |
Tectb |
T |
C |
19: 55,170,361 (GRCm39) |
F71L |
probably damaging |
Het |
Tmem220 |
T |
C |
11: 66,924,979 (GRCm39) |
I138T |
possibly damaging |
Het |
Tmtc4 |
T |
C |
14: 123,158,677 (GRCm39) |
N682S |
probably benign |
Het |
Tnc |
A |
G |
4: 63,882,858 (GRCm39) |
V1921A |
probably damaging |
Het |
Ubn1 |
T |
G |
16: 4,882,487 (GRCm39) |
L316W |
probably damaging |
Het |
Vwa5a |
T |
C |
9: 38,647,357 (GRCm39) |
S579P |
probably damaging |
Het |
Xdh |
A |
G |
17: 74,228,300 (GRCm39) |
L367P |
possibly damaging |
Het |
Zfp280b |
T |
C |
10: 75,874,328 (GRCm39) |
L69S |
probably damaging |
Het |
Zfp990 |
A |
C |
4: 145,263,974 (GRCm39) |
Y324S |
possibly damaging |
Het |
|
Other mutations in Efemp1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00816:Efemp1
|
APN |
11 |
28,876,223 (GRCm39) |
missense |
probably benign |
0.32 |
IGL01862:Efemp1
|
APN |
11 |
28,871,428 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02568:Efemp1
|
APN |
11 |
28,866,971 (GRCm39) |
critical splice donor site |
probably null |
|
IGL03175:Efemp1
|
APN |
11 |
28,876,259 (GRCm39) |
missense |
probably benign |
0.04 |
IGL03014:Efemp1
|
UTSW |
11 |
28,876,218 (GRCm39) |
missense |
probably damaging |
0.96 |
R0973:Efemp1
|
UTSW |
11 |
28,804,538 (GRCm39) |
missense |
probably damaging |
1.00 |
R0973:Efemp1
|
UTSW |
11 |
28,804,538 (GRCm39) |
missense |
probably damaging |
1.00 |
R0974:Efemp1
|
UTSW |
11 |
28,804,538 (GRCm39) |
missense |
probably damaging |
1.00 |
R1678:Efemp1
|
UTSW |
11 |
28,866,942 (GRCm39) |
missense |
probably benign |
0.00 |
R1701:Efemp1
|
UTSW |
11 |
28,871,750 (GRCm39) |
missense |
possibly damaging |
0.68 |
R1831:Efemp1
|
UTSW |
11 |
28,871,442 (GRCm39) |
missense |
possibly damaging |
0.91 |
R2016:Efemp1
|
UTSW |
11 |
28,871,613 (GRCm39) |
missense |
probably damaging |
1.00 |
R2017:Efemp1
|
UTSW |
11 |
28,871,613 (GRCm39) |
missense |
probably damaging |
1.00 |
R2025:Efemp1
|
UTSW |
11 |
28,864,696 (GRCm39) |
missense |
possibly damaging |
0.85 |
R2027:Efemp1
|
UTSW |
11 |
28,864,696 (GRCm39) |
missense |
possibly damaging |
0.85 |
R2084:Efemp1
|
UTSW |
11 |
28,865,763 (GRCm39) |
missense |
probably damaging |
1.00 |
R2396:Efemp1
|
UTSW |
11 |
28,817,941 (GRCm39) |
missense |
possibly damaging |
0.83 |
R4803:Efemp1
|
UTSW |
11 |
28,871,795 (GRCm39) |
missense |
possibly damaging |
0.84 |
R4817:Efemp1
|
UTSW |
11 |
28,876,241 (GRCm39) |
missense |
probably damaging |
1.00 |
R5201:Efemp1
|
UTSW |
11 |
28,864,590 (GRCm39) |
missense |
probably benign |
0.05 |
R5297:Efemp1
|
UTSW |
11 |
28,817,868 (GRCm39) |
missense |
probably damaging |
0.99 |
R5534:Efemp1
|
UTSW |
11 |
28,817,758 (GRCm39) |
missense |
probably damaging |
1.00 |
R5839:Efemp1
|
UTSW |
11 |
28,871,418 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6037:Efemp1
|
UTSW |
11 |
28,871,760 (GRCm39) |
missense |
probably damaging |
1.00 |
R6037:Efemp1
|
UTSW |
11 |
28,871,760 (GRCm39) |
missense |
probably damaging |
1.00 |
R6314:Efemp1
|
UTSW |
11 |
28,864,603 (GRCm39) |
missense |
probably benign |
0.12 |
R7067:Efemp1
|
UTSW |
11 |
28,817,926 (GRCm39) |
missense |
probably damaging |
1.00 |
R7396:Efemp1
|
UTSW |
11 |
28,817,501 (GRCm39) |
missense |
possibly damaging |
0.92 |
R8223:Efemp1
|
UTSW |
11 |
28,804,528 (GRCm39) |
missense |
probably benign |
0.13 |
R8243:Efemp1
|
UTSW |
11 |
28,871,690 (GRCm39) |
missense |
probably damaging |
0.99 |
R8279:Efemp1
|
UTSW |
11 |
28,871,795 (GRCm39) |
missense |
possibly damaging |
0.52 |
R8313:Efemp1
|
UTSW |
11 |
28,860,691 (GRCm39) |
missense |
probably benign |
0.39 |
R8378:Efemp1
|
UTSW |
11 |
28,871,765 (GRCm39) |
missense |
probably damaging |
0.98 |
Z1177:Efemp1
|
UTSW |
11 |
28,817,909 (GRCm39) |
missense |
probably benign |
0.09 |
|