Other mutations in this stock |
Total: 79 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2m |
A |
G |
6: 121,645,076 (GRCm39) |
N976D |
probably damaging |
Het |
Adamts1 |
G |
A |
16: 85,599,037 (GRCm39) |
R188W |
probably benign |
Het |
Adcy4 |
A |
T |
14: 56,016,470 (GRCm39) |
V327D |
probably damaging |
Het |
Alg8 |
T |
C |
7: 97,039,493 (GRCm39) |
I408T |
possibly damaging |
Het |
Ankib1 |
T |
C |
5: 3,743,217 (GRCm39) |
S933G |
probably benign |
Het |
Ap2a2 |
A |
G |
7: 141,178,691 (GRCm39) |
D106G |
probably damaging |
Het |
Arhgap22 |
A |
T |
14: 33,088,572 (GRCm39) |
H351L |
probably damaging |
Het |
Arhgef2 |
A |
G |
3: 88,542,327 (GRCm39) |
Y310C |
probably damaging |
Het |
Atm |
A |
T |
9: 53,359,380 (GRCm39) |
S2804R |
probably damaging |
Het |
Baz2b |
A |
G |
2: 59,807,770 (GRCm39) |
L163P |
possibly damaging |
Het |
Bcl2l12 |
C |
T |
7: 44,645,967 (GRCm39) |
|
probably null |
Het |
Cdh23 |
A |
G |
10: 60,213,600 (GRCm39) |
V1495A |
possibly damaging |
Het |
Cep78 |
A |
G |
19: 15,946,492 (GRCm39) |
S447P |
possibly damaging |
Het |
Cfap43 |
G |
A |
19: 47,768,710 (GRCm39) |
T778I |
possibly damaging |
Het |
Cfap54 |
A |
T |
10: 92,901,043 (GRCm39) |
N170K |
probably damaging |
Het |
Cmya5 |
A |
T |
13: 93,229,151 (GRCm39) |
L1979Q |
probably damaging |
Het |
Col15a1 |
A |
T |
4: 47,289,514 (GRCm39) |
E846D |
probably damaging |
Het |
Col5a1 |
A |
G |
2: 27,926,900 (GRCm39) |
K308E |
possibly damaging |
Het |
Dcst1 |
T |
A |
3: 89,257,731 (GRCm39) |
T680S |
possibly damaging |
Het |
Dsp |
T |
C |
13: 38,376,445 (GRCm39) |
L1410P |
possibly damaging |
Het |
Edem3 |
T |
A |
1: 151,646,578 (GRCm39) |
|
probably null |
Het |
Efcab3 |
A |
T |
11: 104,581,760 (GRCm39) |
E34V |
probably benign |
Het |
Eif4e2 |
T |
A |
1: 87,148,696 (GRCm39) |
Y64N |
probably damaging |
Het |
Fcgbp |
C |
T |
7: 27,784,928 (GRCm39) |
|
probably benign |
Het |
Gm7275 |
A |
T |
16: 47,893,826 (GRCm39) |
|
noncoding transcript |
Het |
Grin3b |
G |
T |
10: 79,808,855 (GRCm39) |
V202L |
probably benign |
Het |
Gsdmc4 |
G |
A |
15: 63,767,101 (GRCm39) |
S223F |
possibly damaging |
Het |
H2bc14 |
A |
G |
13: 21,906,470 (GRCm39) |
N68S |
probably benign |
Het |
Hbp1 |
T |
C |
12: 31,987,651 (GRCm39) |
H183R |
probably benign |
Het |
Hectd3 |
A |
G |
4: 116,859,331 (GRCm39) |
M652V |
probably benign |
Het |
Hmgxb4 |
T |
C |
8: 75,726,193 (GRCm39) |
F13L |
probably benign |
Het |
Hnrnpab |
T |
C |
11: 51,492,281 (GRCm39) |
K271R |
probably benign |
Het |
Ilvbl |
A |
T |
10: 78,412,947 (GRCm39) |
K156N |
probably benign |
Het |
Iqce |
A |
T |
5: 140,687,973 (GRCm39) |
|
probably benign |
Het |
Itpr2 |
C |
A |
6: 146,231,069 (GRCm39) |
V1194L |
probably benign |
Het |
Kif18b |
A |
G |
11: 102,804,370 (GRCm39) |
F384L |
probably benign |
Het |
Klf14 |
A |
G |
6: 30,934,774 (GRCm39) |
Y287H |
probably benign |
Het |
Klhl6 |
A |
G |
16: 19,775,844 (GRCm39) |
M238T |
probably benign |
Het |
Lbp |
G |
A |
2: 158,166,477 (GRCm39) |
V344I |
probably benign |
Het |
Lrp12 |
T |
C |
15: 39,739,439 (GRCm39) |
|
probably null |
Het |
Mapk7 |
T |
A |
11: 61,384,447 (GRCm39) |
M1L |
probably benign |
Het |
Muc5b |
A |
G |
7: 141,415,048 (GRCm39) |
T2665A |
possibly damaging |
Het |
Ncln |
A |
T |
10: 81,331,912 (GRCm39) |
|
probably null |
Het |
Nfxl1 |
T |
C |
5: 72,697,708 (GRCm39) |
R347G |
probably benign |
Het |
Nrap |
T |
A |
19: 56,330,743 (GRCm39) |
H1070L |
probably benign |
Het |
Nrxn1 |
G |
T |
17: 91,011,746 (GRCm39) |
Y294* |
probably null |
Het |
Or4c126 |
A |
G |
2: 89,823,782 (GRCm39) |
D15G |
probably benign |
Het |
Or9s27 |
T |
C |
1: 92,516,429 (GRCm39) |
Y126H |
probably damaging |
Het |
Otog |
A |
G |
7: 45,948,022 (GRCm39) |
H2341R |
possibly damaging |
Het |
Paqr3 |
T |
C |
5: 97,243,887 (GRCm39) |
|
probably null |
Het |
Pcdhb11 |
T |
C |
18: 37,556,796 (GRCm39) |
F709L |
probably benign |
Het |
Phf12 |
G |
A |
11: 77,918,224 (GRCm39) |
R812Q |
probably damaging |
Het |
Polr2a |
A |
T |
11: 69,637,696 (GRCm39) |
L216Q |
probably damaging |
Het |
Polrmt |
A |
G |
10: 79,579,331 (GRCm39) |
L140P |
probably benign |
Het |
Pou2f3 |
C |
T |
9: 43,045,769 (GRCm39) |
|
probably null |
Het |
Prkcd |
A |
T |
14: 30,317,938 (GRCm39) |
N548K |
probably benign |
Het |
Pygb |
A |
G |
2: 150,657,620 (GRCm39) |
D361G |
probably benign |
Het |
Rpl9 |
A |
T |
5: 65,546,044 (GRCm39) |
|
probably benign |
Het |
Rubcnl |
A |
T |
14: 75,272,912 (GRCm39) |
T211S |
probably benign |
Het |
Rusc1 |
C |
T |
3: 88,999,027 (GRCm39) |
G252S |
probably benign |
Het |
Scnn1g |
A |
G |
7: 121,337,318 (GRCm39) |
T60A |
probably damaging |
Het |
Sipa1l2 |
T |
G |
8: 126,218,423 (GRCm39) |
T305P |
probably benign |
Het |
Slc18b1 |
T |
A |
10: 23,700,565 (GRCm39) |
|
probably benign |
Het |
Sp100 |
G |
A |
1: 85,608,861 (GRCm39) |
|
probably null |
Het |
Tekt5 |
A |
T |
16: 10,205,017 (GRCm39) |
|
probably null |
Het |
Tlnrd1 |
T |
A |
7: 83,533,693 (GRCm39) |
|
probably benign |
Het |
Tpcn1 |
A |
G |
5: 120,685,462 (GRCm39) |
|
probably benign |
Het |
Tpcn2 |
T |
C |
7: 144,814,719 (GRCm39) |
I461V |
probably benign |
Het |
Traf3ip1 |
A |
G |
1: 91,455,467 (GRCm39) |
K643E |
probably damaging |
Het |
Trim33 |
T |
C |
3: 103,251,892 (GRCm39) |
C914R |
probably damaging |
Het |
Trip11 |
G |
A |
12: 101,849,738 (GRCm39) |
T1442I |
probably damaging |
Het |
Ttll6 |
A |
G |
11: 96,026,415 (GRCm39) |
M107V |
possibly damaging |
Het |
Uap1l1 |
A |
G |
2: 25,253,445 (GRCm39) |
|
probably benign |
Het |
Ube3b |
T |
A |
5: 114,553,370 (GRCm39) |
I914N |
possibly damaging |
Het |
Usp24 |
A |
G |
4: 106,237,665 (GRCm39) |
T1107A |
probably damaging |
Het |
Usp40 |
A |
T |
1: 87,896,122 (GRCm39) |
C811* |
probably null |
Het |
Vps11 |
T |
C |
9: 44,270,432 (GRCm39) |
|
probably null |
Het |
Wdr91 |
A |
T |
6: 34,868,422 (GRCm39) |
I433N |
possibly damaging |
Het |
Zfp770 |
G |
C |
2: 114,026,713 (GRCm39) |
S452* |
probably null |
Het |
|
Other mutations in Npnt |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00731:Npnt
|
APN |
3 |
132,610,418 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01457:Npnt
|
APN |
3 |
132,591,743 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01954:Npnt
|
APN |
3 |
132,615,724 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01999:Npnt
|
APN |
3 |
132,614,160 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02012:Npnt
|
APN |
3 |
132,614,158 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02025:Npnt
|
APN |
3 |
132,596,523 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02637:Npnt
|
APN |
3 |
132,590,271 (GRCm39) |
missense |
possibly damaging |
0.90 |
R0234:Npnt
|
UTSW |
3 |
132,620,175 (GRCm39) |
missense |
possibly damaging |
0.82 |
R0234:Npnt
|
UTSW |
3 |
132,620,175 (GRCm39) |
missense |
possibly damaging |
0.82 |
R1680:Npnt
|
UTSW |
3 |
132,612,563 (GRCm39) |
missense |
probably benign |
0.00 |
R1729:Npnt
|
UTSW |
3 |
132,620,158 (GRCm39) |
nonsense |
probably null |
|
R1773:Npnt
|
UTSW |
3 |
132,610,454 (GRCm39) |
missense |
possibly damaging |
0.62 |
R1980:Npnt
|
UTSW |
3 |
132,653,893 (GRCm39) |
missense |
probably benign |
0.04 |
R1982:Npnt
|
UTSW |
3 |
132,653,893 (GRCm39) |
missense |
probably benign |
0.04 |
R2338:Npnt
|
UTSW |
3 |
132,597,170 (GRCm39) |
missense |
probably damaging |
1.00 |
R3800:Npnt
|
UTSW |
3 |
132,612,524 (GRCm39) |
missense |
probably damaging |
1.00 |
R4739:Npnt
|
UTSW |
3 |
132,610,452 (GRCm39) |
missense |
possibly damaging |
0.93 |
R4790:Npnt
|
UTSW |
3 |
132,596,523 (GRCm39) |
critical splice donor site |
probably benign |
|
R5008:Npnt
|
UTSW |
3 |
132,612,218 (GRCm39) |
missense |
probably damaging |
1.00 |
R5446:Npnt
|
UTSW |
3 |
132,614,130 (GRCm39) |
missense |
probably damaging |
1.00 |
R5471:Npnt
|
UTSW |
3 |
132,620,148 (GRCm39) |
missense |
probably benign |
0.05 |
R5538:Npnt
|
UTSW |
3 |
132,610,724 (GRCm39) |
missense |
probably damaging |
1.00 |
R5673:Npnt
|
UTSW |
3 |
132,623,258 (GRCm39) |
missense |
probably damaging |
0.97 |
R5683:Npnt
|
UTSW |
3 |
132,612,601 (GRCm39) |
splice site |
probably null |
|
R5827:Npnt
|
UTSW |
3 |
132,612,536 (GRCm39) |
missense |
possibly damaging |
0.89 |
R5857:Npnt
|
UTSW |
3 |
132,614,110 (GRCm39) |
missense |
probably damaging |
1.00 |
R6208:Npnt
|
UTSW |
3 |
132,655,774 (GRCm39) |
unclassified |
probably benign |
|
R6358:Npnt
|
UTSW |
3 |
132,610,479 (GRCm39) |
missense |
probably benign |
0.18 |
R6875:Npnt
|
UTSW |
3 |
132,615,671 (GRCm39) |
missense |
probably damaging |
1.00 |
R7025:Npnt
|
UTSW |
3 |
132,614,157 (GRCm39) |
missense |
probably damaging |
1.00 |
R7145:Npnt
|
UTSW |
3 |
132,615,692 (GRCm39) |
missense |
probably benign |
0.01 |
R7166:Npnt
|
UTSW |
3 |
132,653,889 (GRCm39) |
missense |
probably damaging |
1.00 |
R7287:Npnt
|
UTSW |
3 |
132,612,563 (GRCm39) |
missense |
probably benign |
0.00 |
R7344:Npnt
|
UTSW |
3 |
132,614,100 (GRCm39) |
splice site |
probably null |
|
R8344:Npnt
|
UTSW |
3 |
132,614,217 (GRCm39) |
missense |
probably damaging |
1.00 |
R8717:Npnt
|
UTSW |
3 |
132,614,136 (GRCm39) |
missense |
probably damaging |
1.00 |
R8873:Npnt
|
UTSW |
3 |
132,655,816 (GRCm39) |
start gained |
probably benign |
|
R8903:Npnt
|
UTSW |
3 |
132,591,764 (GRCm39) |
missense |
probably damaging |
1.00 |
R9414:Npnt
|
UTSW |
3 |
132,612,116 (GRCm39) |
missense |
probably benign |
0.00 |
R9420:Npnt
|
UTSW |
3 |
132,653,866 (GRCm39) |
nonsense |
probably null |
|
|