Other mutations in this stock |
Total: 92 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca2 |
T |
C |
2: 25,333,055 (GRCm39) |
S1585P |
probably benign |
Het |
Abhd16b |
T |
C |
2: 181,135,197 (GRCm39) |
F33S |
probably damaging |
Het |
Adgra2 |
G |
A |
8: 27,609,795 (GRCm39) |
R856Q |
probably damaging |
Het |
Aff3 |
A |
T |
1: 38,368,945 (GRCm39) |
|
probably benign |
Het |
Anxa2 |
A |
T |
9: 69,397,049 (GRCm39) |
Y251F |
probably benign |
Het |
Arid1b |
A |
G |
17: 5,392,088 (GRCm39) |
T1873A |
probably damaging |
Het |
Baz1b |
C |
A |
5: 135,271,378 (GRCm39) |
D1320E |
probably benign |
Het |
Bid |
A |
G |
6: 120,877,209 (GRCm39) |
V44A |
possibly damaging |
Het |
Ccdc60 |
T |
A |
5: 116,310,532 (GRCm39) |
M177L |
probably damaging |
Het |
Cdh23 |
G |
A |
10: 60,161,855 (GRCm39) |
T1997M |
probably damaging |
Het |
Cdh5 |
T |
A |
8: 104,854,801 (GRCm39) |
M243K |
probably benign |
Het |
Clpb |
T |
A |
7: 101,435,905 (GRCm39) |
V578E |
possibly damaging |
Het |
Cngb1 |
C |
A |
8: 96,026,328 (GRCm39) |
C151F |
probably benign |
Het |
Cntnap5b |
T |
C |
1: 99,700,535 (GRCm39) |
S16P |
probably benign |
Het |
Cr1l |
T |
A |
1: 194,797,123 (GRCm39) |
M305L |
probably benign |
Het |
Ctnnal1 |
A |
T |
4: 56,838,988 (GRCm39) |
M235K |
probably damaging |
Het |
Ddx55 |
A |
T |
5: 124,706,176 (GRCm39) |
R534W |
probably damaging |
Het |
Dip2b |
T |
A |
15: 100,109,910 (GRCm39) |
L1465Q |
probably damaging |
Het |
Dnah9 |
G |
T |
11: 65,872,048 (GRCm39) |
D2727E |
probably benign |
Het |
Dph3b-ps |
A |
C |
13: 106,683,497 (GRCm39) |
|
noncoding transcript |
Het |
Dst |
T |
A |
1: 34,267,684 (GRCm39) |
L2702Q |
probably damaging |
Het |
Efnb2 |
T |
C |
8: 8,673,184 (GRCm39) |
T158A |
possibly damaging |
Het |
Exosc10 |
A |
T |
4: 148,662,926 (GRCm39) |
K712* |
probably null |
Het |
Fgr |
T |
C |
4: 132,725,653 (GRCm39) |
V354A |
possibly damaging |
Het |
Fsip2 |
A |
G |
2: 82,830,185 (GRCm39) |
D6893G |
possibly damaging |
Het |
Fsip2 |
G |
A |
2: 82,815,240 (GRCm39) |
V3658M |
probably benign |
Het |
Fsip2 |
A |
T |
2: 82,818,055 (GRCm39) |
H4596L |
possibly damaging |
Het |
Gm1527 |
G |
A |
3: 28,949,699 (GRCm39) |
|
probably benign |
Het |
Gm5150 |
G |
T |
3: 16,060,468 (GRCm39) |
Q7K |
probably benign |
Het |
Gpr155 |
C |
T |
2: 73,212,279 (GRCm39) |
V115M |
probably damaging |
Het |
Gpr75 |
T |
C |
11: 30,841,527 (GRCm39) |
L144P |
probably damaging |
Het |
Gsn |
T |
A |
2: 35,174,835 (GRCm39) |
Y127N |
probably damaging |
Het |
Hk1 |
A |
G |
10: 62,117,678 (GRCm39) |
L615S |
probably damaging |
Het |
Igsf9b |
A |
G |
9: 27,229,123 (GRCm39) |
T194A |
possibly damaging |
Het |
Il17rd |
C |
T |
14: 26,813,763 (GRCm39) |
Q46* |
probably null |
Het |
Jak1 |
T |
A |
4: 101,020,126 (GRCm39) |
M678L |
probably benign |
Het |
Kif6 |
T |
C |
17: 49,922,311 (GRCm39) |
V16A |
probably benign |
Het |
Kpna3 |
T |
C |
14: 61,607,990 (GRCm39) |
E405G |
probably benign |
Het |
Lmtk2 |
C |
A |
5: 144,110,993 (GRCm39) |
T571K |
probably damaging |
Het |
Mucl2 |
T |
C |
15: 103,927,838 (GRCm39) |
T40A |
possibly damaging |
Het |
Myh11 |
G |
A |
16: 14,051,559 (GRCm39) |
|
probably benign |
Het |
Myh7 |
C |
T |
14: 55,210,170 (GRCm39) |
R1845Q |
probably damaging |
Het |
Myo1f |
T |
A |
17: 33,805,172 (GRCm39) |
L480Q |
probably benign |
Het |
Nek9 |
T |
G |
12: 85,352,364 (GRCm39) |
D833A |
possibly damaging |
Het |
Nek9 |
T |
C |
12: 85,357,184 (GRCm39) |
E660G |
probably benign |
Het |
Or10z1 |
C |
T |
1: 174,077,926 (GRCm39) |
C189Y |
probably damaging |
Het |
Or2a12 |
A |
G |
6: 42,904,431 (GRCm39) |
I89V |
possibly damaging |
Het |
Or2t45 |
A |
G |
11: 58,669,195 (GRCm39) |
M81V |
possibly damaging |
Het |
Or5h18 |
T |
C |
16: 58,847,350 (GRCm39) |
R307G |
probably benign |
Het |
Or6c65 |
T |
A |
10: 129,603,417 (GRCm39) |
D17E |
probably benign |
Het |
Or6f2 |
G |
A |
7: 139,756,188 (GRCm39) |
V52M |
probably damaging |
Het |
Or7s1a-ps1 |
T |
A |
9: 18,843,791 (GRCm39) |
|
probably benign |
Het |
Otud3 |
G |
T |
4: 138,623,092 (GRCm39) |
T383K |
possibly damaging |
Het |
Pkp4 |
T |
C |
2: 59,142,185 (GRCm39) |
L496P |
probably damaging |
Het |
Pla2g4e |
C |
A |
2: 120,000,527 (GRCm39) |
A737S |
possibly damaging |
Het |
Pla2g4f |
T |
C |
2: 120,144,547 (GRCm39) |
|
probably benign |
Het |
Plxnd1 |
A |
T |
6: 115,944,740 (GRCm39) |
V1018E |
possibly damaging |
Het |
Ppp1r21 |
T |
G |
17: 88,869,653 (GRCm39) |
V402G |
possibly damaging |
Het |
Prkcq |
T |
G |
2: 11,304,881 (GRCm39) |
M690R |
probably damaging |
Het |
Ptpra |
T |
C |
2: 130,391,747 (GRCm39) |
I719T |
probably damaging |
Het |
Rab3ip |
C |
T |
10: 116,773,415 (GRCm39) |
D133N |
probably damaging |
Het |
Relch |
T |
G |
1: 105,647,169 (GRCm39) |
|
probably benign |
Het |
Rsbn1 |
T |
A |
3: 103,867,347 (GRCm39) |
Y563N |
probably damaging |
Het |
Rtf1 |
A |
C |
2: 119,558,889 (GRCm39) |
D530A |
probably benign |
Het |
Rybp |
G |
T |
6: 100,209,224 (GRCm39) |
S199R |
probably benign |
Het |
Sema5a |
T |
G |
15: 32,641,252 (GRCm39) |
C689G |
probably damaging |
Het |
Senp6 |
T |
A |
9: 80,025,911 (GRCm39) |
V314E |
probably benign |
Het |
Setd1a |
T |
A |
7: 127,385,062 (GRCm39) |
C47S |
possibly damaging |
Het |
Slamf1 |
C |
A |
1: 171,604,734 (GRCm39) |
T168K |
probably benign |
Het |
Slc12a5 |
T |
C |
2: 164,838,048 (GRCm39) |
S937P |
probably damaging |
Het |
Slc38a11 |
C |
T |
2: 65,185,663 (GRCm39) |
|
probably null |
Het |
Slc6a2 |
C |
T |
8: 93,687,846 (GRCm39) |
|
probably benign |
Het |
Snw1 |
A |
T |
12: 87,511,459 (GRCm39) |
F64Y |
probably benign |
Het |
Spata9 |
A |
C |
13: 76,146,643 (GRCm39) |
I172L |
probably benign |
Het |
Sphkap |
T |
C |
1: 83,255,265 (GRCm39) |
H828R |
probably benign |
Het |
Spmip6 |
T |
A |
4: 41,507,330 (GRCm39) |
|
probably null |
Het |
Tmem94 |
A |
T |
11: 115,687,580 (GRCm39) |
K1146N |
probably damaging |
Het |
Trdn |
A |
G |
10: 33,109,883 (GRCm39) |
T294A |
possibly damaging |
Het |
Tsc22d1 |
T |
C |
14: 76,654,388 (GRCm39) |
V289A |
possibly damaging |
Het |
Tti1 |
C |
A |
2: 157,834,955 (GRCm39) |
V1002L |
possibly damaging |
Het |
Tubgcp4 |
T |
A |
2: 121,019,952 (GRCm39) |
|
probably null |
Het |
Ush2a |
G |
A |
1: 188,643,180 (GRCm39) |
E4181K |
possibly damaging |
Het |
Uvrag |
A |
G |
7: 98,537,555 (GRCm39) |
S547P |
probably benign |
Het |
Vav3 |
T |
C |
3: 109,248,443 (GRCm39) |
V30A |
possibly damaging |
Het |
Vegfa |
A |
G |
17: 46,336,395 (GRCm39) |
Y242H |
probably damaging |
Het |
Vmn2r75 |
G |
T |
7: 85,798,019 (GRCm39) |
T598K |
probably damaging |
Het |
Vps13b |
C |
T |
15: 35,884,765 (GRCm39) |
S3146L |
possibly damaging |
Het |
Vrk3 |
A |
G |
7: 44,417,895 (GRCm39) |
Y310C |
probably damaging |
Het |
Zfhx4 |
A |
G |
3: 5,447,676 (GRCm39) |
K1100R |
probably benign |
Het |
Zfp748 |
T |
A |
13: 67,693,540 (GRCm39) |
|
probably null |
Het |
Zfp760 |
A |
T |
17: 21,941,311 (GRCm39) |
D162V |
probably damaging |
Het |
Znfx1 |
T |
A |
2: 166,881,786 (GRCm39) |
M1068L |
probably damaging |
Het |
|
Other mutations in Bbs1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00090:Bbs1
|
APN |
19 |
4,943,038 (GRCm39) |
missense |
probably benign |
|
IGL01110:Bbs1
|
APN |
19 |
4,942,953 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL01116:Bbs1
|
APN |
19 |
4,952,867 (GRCm39) |
splice site |
probably benign |
|
IGL01480:Bbs1
|
APN |
19 |
4,944,421 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01926:Bbs1
|
APN |
19 |
4,952,891 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02893:Bbs1
|
APN |
19 |
4,947,604 (GRCm39) |
nonsense |
probably null |
|
IGL03136:Bbs1
|
APN |
19 |
4,941,019 (GRCm39) |
missense |
probably benign |
0.10 |
IGL03342:Bbs1
|
APN |
19 |
4,947,621 (GRCm39) |
missense |
probably damaging |
1.00 |
bookface
|
UTSW |
19 |
4,947,354 (GRCm39) |
missense |
possibly damaging |
0.81 |
PIT4131001:Bbs1
|
UTSW |
19 |
4,949,287 (GRCm39) |
missense |
possibly damaging |
0.83 |
PIT4378001:Bbs1
|
UTSW |
19 |
4,941,703 (GRCm39) |
missense |
probably benign |
0.05 |
PIT4468001:Bbs1
|
UTSW |
19 |
4,956,190 (GRCm39) |
missense |
probably benign |
0.19 |
R0023:Bbs1
|
UTSW |
19 |
4,956,042 (GRCm39) |
missense |
probably damaging |
1.00 |
R0023:Bbs1
|
UTSW |
19 |
4,956,042 (GRCm39) |
missense |
probably damaging |
1.00 |
R0127:Bbs1
|
UTSW |
19 |
4,945,057 (GRCm39) |
missense |
probably benign |
0.05 |
R1423:Bbs1
|
UTSW |
19 |
4,944,291 (GRCm39) |
missense |
probably benign |
0.08 |
R1992:Bbs1
|
UTSW |
19 |
4,941,736 (GRCm39) |
missense |
probably benign |
|
R2145:Bbs1
|
UTSW |
19 |
4,953,735 (GRCm39) |
missense |
possibly damaging |
0.71 |
R4097:Bbs1
|
UTSW |
19 |
4,947,345 (GRCm39) |
missense |
probably damaging |
1.00 |
R5717:Bbs1
|
UTSW |
19 |
4,947,354 (GRCm39) |
missense |
possibly damaging |
0.81 |
R5947:Bbs1
|
UTSW |
19 |
4,943,022 (GRCm39) |
missense |
probably benign |
0.27 |
R6005:Bbs1
|
UTSW |
19 |
4,953,823 (GRCm39) |
nonsense |
probably null |
|
R6175:Bbs1
|
UTSW |
19 |
4,940,749 (GRCm39) |
missense |
probably damaging |
1.00 |
R6597:Bbs1
|
UTSW |
19 |
4,949,334 (GRCm39) |
missense |
probably benign |
0.01 |
R6734:Bbs1
|
UTSW |
19 |
4,953,924 (GRCm39) |
missense |
probably benign |
0.10 |
R6772:Bbs1
|
UTSW |
19 |
4,956,618 (GRCm39) |
unclassified |
probably benign |
|
R6805:Bbs1
|
UTSW |
19 |
4,950,643 (GRCm39) |
missense |
probably damaging |
1.00 |
R6838:Bbs1
|
UTSW |
19 |
4,953,880 (GRCm39) |
missense |
possibly damaging |
0.47 |
R7198:Bbs1
|
UTSW |
19 |
4,945,043 (GRCm39) |
missense |
probably damaging |
0.97 |
R7276:Bbs1
|
UTSW |
19 |
4,947,738 (GRCm39) |
splice site |
probably null |
|
R7685:Bbs1
|
UTSW |
19 |
4,956,182 (GRCm39) |
missense |
probably benign |
0.43 |
R7696:Bbs1
|
UTSW |
19 |
4,941,017 (GRCm39) |
critical splice donor site |
probably null |
|
R7933:Bbs1
|
UTSW |
19 |
4,941,678 (GRCm39) |
splice site |
probably benign |
|
R8446:Bbs1
|
UTSW |
19 |
4,947,633 (GRCm39) |
missense |
probably benign |
0.05 |
R8892:Bbs1
|
UTSW |
19 |
4,942,954 (GRCm39) |
missense |
probably benign |
0.05 |
R9181:Bbs1
|
UTSW |
19 |
4,941,070 (GRCm39) |
missense |
possibly damaging |
0.64 |
R9602:Bbs1
|
UTSW |
19 |
4,941,083 (GRCm39) |
missense |
probably damaging |
1.00 |
Y5404:Bbs1
|
UTSW |
19 |
4,950,635 (GRCm39) |
missense |
possibly damaging |
0.49 |
Y5407:Bbs1
|
UTSW |
19 |
4,950,635 (GRCm39) |
missense |
possibly damaging |
0.49 |
|