Other mutations in this stock |
Total: 84 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930563M21Rik |
A |
C |
9: 55,909,807 (GRCm39) |
D144E |
possibly damaging |
Het |
Amigo2 |
T |
A |
15: 97,143,419 (GRCm39) |
K334N |
probably benign |
Het |
Ano6 |
T |
C |
15: 95,846,380 (GRCm39) |
|
probably null |
Het |
Ap1m2 |
C |
A |
9: 21,210,601 (GRCm39) |
V343F |
probably benign |
Het |
Apol6 |
T |
C |
15: 76,940,098 (GRCm39) |
V307A |
probably benign |
Het |
Arsi |
C |
A |
18: 61,045,544 (GRCm39) |
A78E |
probably damaging |
Het |
B2m |
A |
T |
2: 121,981,396 (GRCm39) |
N37I |
possibly damaging |
Het |
Bltp3b |
G |
T |
10: 89,641,180 (GRCm39) |
G784C |
possibly damaging |
Het |
C8a |
T |
C |
4: 104,703,100 (GRCm39) |
K363R |
probably benign |
Het |
Ccdc117 |
C |
A |
11: 5,484,242 (GRCm39) |
|
probably null |
Het |
Ccdc154 |
C |
A |
17: 25,386,945 (GRCm39) |
Q325K |
probably damaging |
Het |
Cd300e |
A |
T |
11: 114,945,359 (GRCm39) |
V145E |
possibly damaging |
Het |
Col19a1 |
G |
T |
1: 24,356,474 (GRCm39) |
P673Q |
probably damaging |
Het |
Csn2 |
A |
G |
5: 87,843,885 (GRCm39) |
|
probably null |
Het |
Ctnna1 |
T |
C |
18: 35,307,408 (GRCm39) |
V135A |
probably damaging |
Het |
Dnah11 |
T |
A |
12: 118,154,632 (GRCm39) |
D216V |
probably benign |
Het |
Dnah12 |
A |
G |
14: 26,431,412 (GRCm39) |
H410R |
probably benign |
Het |
Dock2 |
C |
T |
11: 34,181,652 (GRCm39) |
R1637H |
possibly damaging |
Het |
Dspp |
A |
G |
5: 104,325,214 (GRCm39) |
N526D |
unknown |
Het |
Frem2 |
T |
C |
3: 53,562,701 (GRCm39) |
H602R |
probably benign |
Het |
Galc |
A |
T |
12: 98,218,293 (GRCm39) |
H186Q |
probably damaging |
Het |
Grina |
T |
C |
15: 76,133,218 (GRCm39) |
V262A |
probably damaging |
Het |
Gse1 |
G |
A |
8: 121,280,542 (GRCm39) |
|
probably null |
Het |
H2-Oa |
C |
A |
17: 34,312,842 (GRCm39) |
Q40K |
probably damaging |
Het |
Hfm1 |
C |
A |
5: 107,034,419 (GRCm39) |
D763Y |
possibly damaging |
Het |
Hmcn2 |
T |
A |
2: 31,348,758 (GRCm39) |
Y4925N |
probably damaging |
Het |
Hs3st3b1 |
C |
A |
11: 63,780,029 (GRCm39) |
R366L |
probably benign |
Het |
Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
Iqank1 |
T |
C |
15: 75,918,218 (GRCm39) |
|
probably null |
Het |
Itpr2 |
A |
G |
6: 146,229,833 (GRCm39) |
V1221A |
probably benign |
Het |
Kdm6b |
T |
C |
11: 69,297,584 (GRCm39) |
N285S |
probably benign |
Het |
Klk1b1 |
T |
A |
7: 43,620,081 (GRCm39) |
N181K |
probably damaging |
Het |
Kmt2a |
C |
A |
9: 44,738,125 (GRCm39) |
|
probably benign |
Het |
Lama5 |
T |
C |
2: 179,827,752 (GRCm39) |
D2170G |
probably damaging |
Het |
Lama5 |
T |
A |
2: 179,822,404 (GRCm39) |
T2890S |
probably damaging |
Het |
Lsm2 |
T |
A |
17: 35,201,131 (GRCm39) |
|
probably benign |
Het |
Map3k5 |
G |
T |
10: 19,899,415 (GRCm39) |
C232F |
probably damaging |
Het |
Mapk9 |
T |
G |
11: 49,754,383 (GRCm39) |
D45E |
probably damaging |
Het |
Mpnd |
T |
C |
17: 56,319,482 (GRCm39) |
V315A |
possibly damaging |
Het |
Msh2 |
A |
G |
17: 88,030,900 (GRCm39) |
I926V |
probably benign |
Het |
Mtcl1 |
C |
T |
17: 66,650,521 (GRCm39) |
R1345H |
probably damaging |
Het |
Nbeal2 |
A |
G |
9: 110,457,058 (GRCm39) |
|
probably null |
Het |
Neo1 |
T |
C |
9: 58,796,312 (GRCm39) |
D1205G |
probably damaging |
Het |
Nhlrc2 |
A |
G |
19: 56,559,291 (GRCm39) |
S259G |
probably benign |
Het |
Nkain4 |
G |
A |
2: 180,577,796 (GRCm39) |
P186L |
probably damaging |
Het |
Nkain4 |
G |
A |
2: 180,577,797 (GRCm39) |
P186S |
probably damaging |
Het |
Nlrp1b |
T |
A |
11: 71,109,283 (GRCm39) |
R73* |
probably null |
Het |
Nr5a2 |
T |
C |
1: 136,818,536 (GRCm39) |
D330G |
probably damaging |
Het |
Or2v1 |
T |
C |
11: 49,025,877 (GRCm39) |
L286P |
probably damaging |
Het |
Or5aq7 |
A |
G |
2: 86,938,296 (GRCm39) |
V145A |
probably damaging |
Het |
Pcdhb8 |
T |
A |
18: 37,489,279 (GRCm39) |
V319E |
probably benign |
Het |
Pcsk6 |
T |
A |
7: 65,578,875 (GRCm39) |
D129E |
probably benign |
Het |
Pld5 |
G |
A |
1: 175,798,100 (GRCm39) |
T433I |
probably benign |
Het |
Plin1 |
A |
T |
7: 79,371,347 (GRCm39) |
L459H |
probably benign |
Het |
Psd4 |
T |
C |
2: 24,284,499 (GRCm39) |
V121A |
probably damaging |
Het |
Pxdn |
A |
T |
12: 30,032,716 (GRCm39) |
I167F |
possibly damaging |
Het |
R3hdm2 |
T |
C |
10: 127,320,384 (GRCm39) |
S569P |
probably damaging |
Het |
Rfng |
T |
A |
11: 120,673,516 (GRCm39) |
T202S |
probably damaging |
Het |
Robo1 |
T |
C |
16: 72,730,696 (GRCm39) |
S266P |
probably benign |
Het |
Sema3c |
G |
T |
5: 17,858,804 (GRCm39) |
V68L |
probably damaging |
Het |
Slco6c1 |
C |
T |
1: 96,993,808 (GRCm39) |
R645H |
possibly damaging |
Het |
Slfn8 |
A |
G |
11: 82,907,626 (GRCm39) |
Y306H |
possibly damaging |
Het |
Snap91 |
T |
C |
9: 86,720,105 (GRCm39) |
D144G |
probably damaging |
Het |
St7l |
T |
G |
3: 104,775,349 (GRCm39) |
F75C |
probably damaging |
Het |
Stard10 |
A |
G |
7: 100,992,468 (GRCm39) |
I145V |
probably damaging |
Het |
Tekt3 |
C |
T |
11: 62,968,999 (GRCm39) |
A242V |
probably damaging |
Het |
Tex44 |
A |
G |
1: 86,354,306 (GRCm39) |
|
probably benign |
Het |
Thg1l |
T |
C |
11: 45,844,988 (GRCm39) |
Q88R |
probably benign |
Het |
Trav8n-2 |
T |
A |
14: 53,583,744 (GRCm39) |
I67N |
probably damaging |
Het |
Ttn |
G |
A |
2: 76,677,770 (GRCm39) |
|
probably benign |
Het |
Ube4a |
A |
T |
9: 44,861,051 (GRCm39) |
L253* |
probably null |
Het |
Uggt1 |
A |
T |
1: 36,201,289 (GRCm39) |
N1150K |
probably damaging |
Het |
Ush2a |
T |
A |
1: 187,995,298 (GRCm39) |
L23* |
probably null |
Het |
Usp22 |
T |
A |
11: 61,065,602 (GRCm39) |
N37I |
probably benign |
Het |
Usp53 |
T |
A |
3: 122,743,390 (GRCm39) |
K515N |
probably damaging |
Het |
Vmn2r4 |
T |
C |
3: 64,322,702 (GRCm39) |
K6E |
probably benign |
Het |
Vps13d |
C |
T |
4: 144,875,918 (GRCm39) |
V1530M |
probably damaging |
Het |
Vwa3b |
A |
G |
1: 37,153,612 (GRCm39) |
I485V |
possibly damaging |
Het |
Wnk4 |
T |
C |
11: 101,155,156 (GRCm39) |
Y356H |
probably damaging |
Het |
Zcchc2 |
A |
G |
1: 105,917,900 (GRCm39) |
|
probably benign |
Het |
Zfp345 |
A |
C |
2: 150,315,010 (GRCm39) |
Y176D |
probably benign |
Het |
Zfp598 |
T |
C |
17: 24,896,850 (GRCm39) |
F238S |
possibly damaging |
Het |
Zkscan17 |
T |
C |
11: 59,393,820 (GRCm39) |
D10G |
probably damaging |
Het |
Zmat4 |
T |
G |
8: 24,392,083 (GRCm39) |
M13R |
probably damaging |
Het |
|
Other mutations in Nup54 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00491:Nup54
|
APN |
5 |
92,565,344 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01526:Nup54
|
APN |
5 |
92,565,334 (GRCm39) |
missense |
probably benign |
0.12 |
IGL01924:Nup54
|
APN |
5 |
92,572,294 (GRCm39) |
missense |
probably benign |
0.02 |
IGL02248:Nup54
|
APN |
5 |
92,576,188 (GRCm39) |
splice site |
probably null |
|
IGL02253:Nup54
|
APN |
5 |
92,565,310 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02508:Nup54
|
APN |
5 |
92,565,398 (GRCm39) |
nonsense |
probably null |
|
IGL02721:Nup54
|
APN |
5 |
92,565,716 (GRCm39) |
missense |
possibly damaging |
0.96 |
IGL03150:Nup54
|
APN |
5 |
92,576,023 (GRCm39) |
missense |
probably damaging |
1.00 |
R0189:Nup54
|
UTSW |
5 |
92,570,423 (GRCm39) |
missense |
probably damaging |
1.00 |
R1401:Nup54
|
UTSW |
5 |
92,576,080 (GRCm39) |
missense |
probably damaging |
1.00 |
R1862:Nup54
|
UTSW |
5 |
92,567,426 (GRCm39) |
missense |
possibly damaging |
0.75 |
R3938:Nup54
|
UTSW |
5 |
92,565,388 (GRCm39) |
missense |
probably damaging |
1.00 |
R4171:Nup54
|
UTSW |
5 |
92,565,343 (GRCm39) |
missense |
possibly damaging |
0.64 |
R4574:Nup54
|
UTSW |
5 |
92,573,641 (GRCm39) |
missense |
probably benign |
0.17 |
R5372:Nup54
|
UTSW |
5 |
92,565,716 (GRCm39) |
missense |
probably damaging |
1.00 |
R6003:Nup54
|
UTSW |
5 |
92,570,853 (GRCm39) |
missense |
probably damaging |
1.00 |
R6197:Nup54
|
UTSW |
5 |
92,578,663 (GRCm39) |
utr 3 prime |
probably benign |
|
R7861:Nup54
|
UTSW |
5 |
92,578,952 (GRCm39) |
missense |
unknown |
|
R8005:Nup54
|
UTSW |
5 |
92,576,006 (GRCm39) |
missense |
probably benign |
0.00 |
R8016:Nup54
|
UTSW |
5 |
92,582,176 (GRCm39) |
missense |
unknown |
|
R8439:Nup54
|
UTSW |
5 |
92,573,605 (GRCm39) |
missense |
probably benign |
0.22 |
R8709:Nup54
|
UTSW |
5 |
92,570,267 (GRCm39) |
intron |
probably benign |
|
R9711:Nup54
|
UTSW |
5 |
92,582,218 (GRCm39) |
missense |
unknown |
|
Z1177:Nup54
|
UTSW |
5 |
92,582,138 (GRCm39) |
missense |
unknown |
|
|