Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agbl3 |
G |
T |
6: 34,799,729 (GRCm38) |
S385I |
probably damaging |
Het |
Arhgap28 |
G |
A |
17: 67,896,093 (GRCm38) |
P122S |
probably benign |
Het |
Arid2 |
T |
C |
15: 96,289,086 (GRCm38) |
V73A |
probably benign |
Het |
Atp1b1 |
C |
T |
1: 164,443,305 (GRCm38) |
R35H |
probably benign |
Het |
Cacybp |
T |
C |
1: 160,203,652 (GRCm38) |
D202G |
probably benign |
Het |
Chsy3 |
C |
G |
18: 59,176,170 (GRCm38) |
P165R |
probably benign |
Het |
Creb3 |
C |
T |
4: 43,565,501 (GRCm38) |
Q227* |
probably null |
Het |
Crnkl1 |
C |
A |
2: 145,931,306 (GRCm38) |
R140L |
probably damaging |
Het |
Cyth4 |
A |
G |
15: 78,604,649 (GRCm38) |
E39G |
probably damaging |
Het |
Dnah6 |
T |
C |
6: 73,191,498 (GRCm38) |
T481A |
probably benign |
Het |
Dock4 |
T |
A |
12: 40,779,124 (GRCm38) |
I1003N |
possibly damaging |
Het |
Galntl5 |
T |
C |
5: 25,186,180 (GRCm38) |
F26L |
probably benign |
Het |
Glrx5 |
C |
G |
12: 105,032,888 (GRCm38) |
C63W |
probably damaging |
Het |
Gm9602 |
T |
A |
14: 4,776,499 (GRCm38) |
I28N |
probably damaging |
Het |
Hivep2 |
A |
G |
10: 14,130,357 (GRCm38) |
T900A |
probably benign |
Het |
Hmcn1 |
A |
G |
1: 150,649,577 (GRCm38) |
|
probably null |
Het |
Ighv1-24 |
G |
T |
12: 114,773,065 (GRCm38) |
L72I |
probably benign |
Het |
Ilvbl |
G |
A |
10: 78,579,035 (GRCm38) |
C244Y |
probably benign |
Het |
Kat7 |
A |
G |
11: 95,291,615 (GRCm38) |
|
probably benign |
Het |
Kcnd3 |
C |
T |
3: 105,658,766 (GRCm38) |
A421V |
probably damaging |
Het |
Lamc1 |
A |
T |
1: 153,262,708 (GRCm38) |
|
probably null |
Het |
Mall |
T |
A |
2: 127,708,854 (GRCm38) |
I129F |
probably damaging |
Het |
Mdn1 |
A |
T |
4: 32,693,506 (GRCm38) |
K1044* |
probably null |
Het |
Med23 |
A |
T |
10: 24,892,592 (GRCm38) |
R77* |
probably null |
Het |
Med23 |
G |
A |
10: 24,892,593 (GRCm38) |
|
probably null |
Het |
Metap2 |
A |
T |
10: 93,870,164 (GRCm38) |
L252* |
probably null |
Het |
Or8k28 |
A |
T |
2: 86,455,347 (GRCm38) |
V308E |
probably benign |
Het |
Psmd1 |
T |
A |
1: 86,132,715 (GRCm38) |
V828D |
probably damaging |
Het |
Psmd9 |
C |
T |
5: 123,234,590 (GRCm38) |
|
probably benign |
Het |
Rbbp5 |
T |
C |
1: 132,492,587 (GRCm38) |
V59A |
probably damaging |
Het |
Sco2 |
T |
C |
15: 89,373,679 (GRCm38) |
|
probably benign |
Het |
Slc32a1 |
G |
T |
2: 158,614,736 (GRCm38) |
C437F |
possibly damaging |
Het |
Spem2 |
T |
C |
11: 69,817,164 (GRCm38) |
E325G |
possibly damaging |
Het |
Steap4 |
A |
G |
5: 7,977,017 (GRCm38) |
T327A |
probably benign |
Het |
Txndc5 |
T |
C |
13: 38,523,405 (GRCm38) |
K99E |
probably benign |
Het |
|
Other mutations in Tsc2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00231:Tsc2
|
APN |
17 |
24,608,107 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL00985:Tsc2
|
APN |
17 |
24,597,131 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL01386:Tsc2
|
APN |
17 |
24,613,285 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL01468:Tsc2
|
APN |
17 |
24,621,097 (GRCm38) |
missense |
possibly damaging |
0.90 |
IGL01530:Tsc2
|
APN |
17 |
24,622,662 (GRCm38) |
missense |
possibly damaging |
0.76 |
IGL02390:Tsc2
|
APN |
17 |
24,600,453 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL02398:Tsc2
|
APN |
17 |
24,621,729 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL02741:Tsc2
|
APN |
17 |
24,629,969 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL03191:Tsc2
|
APN |
17 |
24,628,054 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL03372:Tsc2
|
APN |
17 |
24,619,470 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL03412:Tsc2
|
APN |
17 |
24,597,068 (GRCm38) |
missense |
probably damaging |
0.98 |
Twitch
|
UTSW |
17 |
24,596,742 (GRCm38) |
splice site |
probably null |
|
PIT4515001:Tsc2
|
UTSW |
17 |
24,621,147 (GRCm38) |
missense |
probably benign |
0.15 |
R0025:Tsc2
|
UTSW |
17 |
24,631,004 (GRCm38) |
splice site |
probably benign |
|
R0025:Tsc2
|
UTSW |
17 |
24,631,004 (GRCm38) |
splice site |
probably benign |
|
R0138:Tsc2
|
UTSW |
17 |
24,599,626 (GRCm38) |
missense |
possibly damaging |
0.65 |
R0540:Tsc2
|
UTSW |
17 |
24,621,712 (GRCm38) |
missense |
probably damaging |
1.00 |
R0570:Tsc2
|
UTSW |
17 |
24,626,727 (GRCm38) |
missense |
probably damaging |
1.00 |
R0607:Tsc2
|
UTSW |
17 |
24,621,712 (GRCm38) |
missense |
probably damaging |
1.00 |
R0826:Tsc2
|
UTSW |
17 |
24,596,958 (GRCm38) |
missense |
probably benign |
0.04 |
R1430:Tsc2
|
UTSW |
17 |
24,599,023 (GRCm38) |
critical splice donor site |
probably null |
|
R1440:Tsc2
|
UTSW |
17 |
24,614,392 (GRCm38) |
missense |
probably damaging |
1.00 |
R1466:Tsc2
|
UTSW |
17 |
24,608,973 (GRCm38) |
missense |
probably damaging |
1.00 |
R1466:Tsc2
|
UTSW |
17 |
24,608,973 (GRCm38) |
missense |
probably damaging |
1.00 |
R1541:Tsc2
|
UTSW |
17 |
24,631,976 (GRCm38) |
missense |
probably damaging |
1.00 |
R1717:Tsc2
|
UTSW |
17 |
24,597,068 (GRCm38) |
missense |
probably damaging |
0.98 |
R1799:Tsc2
|
UTSW |
17 |
24,604,408 (GRCm38) |
missense |
probably benign |
|
R2030:Tsc2
|
UTSW |
17 |
24,623,470 (GRCm38) |
splice site |
probably benign |
|
R2147:Tsc2
|
UTSW |
17 |
24,621,142 (GRCm38) |
missense |
possibly damaging |
0.62 |
R2888:Tsc2
|
UTSW |
17 |
24,631,995 (GRCm38) |
critical splice donor site |
probably null |
|
R3609:Tsc2
|
UTSW |
17 |
24,622,550 (GRCm38) |
missense |
possibly damaging |
0.74 |
R3610:Tsc2
|
UTSW |
17 |
24,622,550 (GRCm38) |
missense |
possibly damaging |
0.74 |
R3895:Tsc2
|
UTSW |
17 |
24,599,812 (GRCm38) |
missense |
probably damaging |
1.00 |
R3962:Tsc2
|
UTSW |
17 |
24,621,166 (GRCm38) |
splice site |
probably benign |
|
R3971:Tsc2
|
UTSW |
17 |
24,623,588 (GRCm38) |
missense |
probably damaging |
1.00 |
R4018:Tsc2
|
UTSW |
17 |
24,625,281 (GRCm38) |
missense |
probably damaging |
0.99 |
R4184:Tsc2
|
UTSW |
17 |
24,632,016 (GRCm38) |
missense |
probably benign |
0.43 |
R4435:Tsc2
|
UTSW |
17 |
24,599,713 (GRCm38) |
missense |
probably benign |
0.01 |
R4437:Tsc2
|
UTSW |
17 |
24,599,713 (GRCm38) |
missense |
probably benign |
0.01 |
R4474:Tsc2
|
UTSW |
17 |
24,597,264 (GRCm38) |
missense |
probably damaging |
0.98 |
R4703:Tsc2
|
UTSW |
17 |
24,604,909 (GRCm38) |
missense |
probably benign |
0.13 |
R4731:Tsc2
|
UTSW |
17 |
24,603,275 (GRCm38) |
missense |
possibly damaging |
0.72 |
R4732:Tsc2
|
UTSW |
17 |
24,603,275 (GRCm38) |
missense |
possibly damaging |
0.72 |
R4733:Tsc2
|
UTSW |
17 |
24,603,275 (GRCm38) |
missense |
possibly damaging |
0.72 |
R4817:Tsc2
|
UTSW |
17 |
24,596,742 (GRCm38) |
splice site |
probably null |
|
R4890:Tsc2
|
UTSW |
17 |
24,600,035 (GRCm38) |
missense |
probably damaging |
1.00 |
R4922:Tsc2
|
UTSW |
17 |
24,600,369 (GRCm38) |
missense |
probably benign |
0.22 |
R5119:Tsc2
|
UTSW |
17 |
24,603,280 (GRCm38) |
missense |
probably benign |
0.00 |
R5393:Tsc2
|
UTSW |
17 |
24,600,396 (GRCm38) |
missense |
possibly damaging |
0.89 |
R5785:Tsc2
|
UTSW |
17 |
24,599,887 (GRCm38) |
splice site |
probably null |
|
R5838:Tsc2
|
UTSW |
17 |
24,613,216 (GRCm38) |
missense |
probably benign |
0.01 |
R5857:Tsc2
|
UTSW |
17 |
24,600,007 (GRCm38) |
missense |
probably damaging |
0.99 |
R5911:Tsc2
|
UTSW |
17 |
24,600,387 (GRCm38) |
missense |
possibly damaging |
0.63 |
R5988:Tsc2
|
UTSW |
17 |
24,620,766 (GRCm38) |
missense |
probably damaging |
1.00 |
R6275:Tsc2
|
UTSW |
17 |
24,600,420 (GRCm38) |
missense |
probably benign |
0.00 |
R6290:Tsc2
|
UTSW |
17 |
24,596,910 (GRCm38) |
missense |
probably benign |
0.04 |
R6371:Tsc2
|
UTSW |
17 |
24,626,714 (GRCm38) |
missense |
probably benign |
0.00 |
R6467:Tsc2
|
UTSW |
17 |
24,609,127 (GRCm38) |
missense |
probably benign |
0.04 |
R6577:Tsc2
|
UTSW |
17 |
24,610,499 (GRCm38) |
missense |
probably damaging |
1.00 |
R6728:Tsc2
|
UTSW |
17 |
24,621,124 (GRCm38) |
missense |
probably damaging |
1.00 |
R6918:Tsc2
|
UTSW |
17 |
24,613,229 (GRCm38) |
missense |
probably damaging |
1.00 |
R6995:Tsc2
|
UTSW |
17 |
24,628,054 (GRCm38) |
missense |
probably damaging |
1.00 |
R7026:Tsc2
|
UTSW |
17 |
24,626,739 (GRCm38) |
missense |
probably damaging |
0.99 |
R7136:Tsc2
|
UTSW |
17 |
24,613,280 (GRCm38) |
missense |
probably benign |
0.00 |
R7236:Tsc2
|
UTSW |
17 |
24,623,594 (GRCm38) |
missense |
possibly damaging |
0.82 |
R7243:Tsc2
|
UTSW |
17 |
24,599,630 (GRCm38) |
missense |
probably benign |
0.02 |
R7249:Tsc2
|
UTSW |
17 |
24,607,755 (GRCm38) |
missense |
probably damaging |
1.00 |
R7450:Tsc2
|
UTSW |
17 |
24,600,031 (GRCm38) |
missense |
probably damaging |
1.00 |
R7522:Tsc2
|
UTSW |
17 |
24,630,965 (GRCm38) |
missense |
probably damaging |
1.00 |
R7529:Tsc2
|
UTSW |
17 |
24,597,948 (GRCm38) |
missense |
probably damaging |
0.98 |
R7637:Tsc2
|
UTSW |
17 |
24,607,492 (GRCm38) |
missense |
probably benign |
0.13 |
R7781:Tsc2
|
UTSW |
17 |
24,608,115 (GRCm38) |
missense |
possibly damaging |
0.52 |
R8005:Tsc2
|
UTSW |
17 |
24,599,596 (GRCm38) |
missense |
probably damaging |
0.98 |
R8262:Tsc2
|
UTSW |
17 |
24,614,366 (GRCm38) |
missense |
probably benign |
0.06 |
R8268:Tsc2
|
UTSW |
17 |
24,600,010 (GRCm38) |
missense |
probably benign |
0.44 |
R8400:Tsc2
|
UTSW |
17 |
24,604,987 (GRCm38) |
missense |
possibly damaging |
0.62 |
R9020:Tsc2
|
UTSW |
17 |
24,626,717 (GRCm38) |
missense |
probably damaging |
0.99 |
R9039:Tsc2
|
UTSW |
17 |
24,607,515 (GRCm38) |
missense |
probably benign |
0.01 |
R9065:Tsc2
|
UTSW |
17 |
24,603,190 (GRCm38) |
missense |
probably benign |
0.39 |
R9123:Tsc2
|
UTSW |
17 |
24,604,828 (GRCm38) |
missense |
probably null |
0.40 |
R9125:Tsc2
|
UTSW |
17 |
24,604,828 (GRCm38) |
missense |
probably null |
0.40 |
R9186:Tsc2
|
UTSW |
17 |
24,604,888 (GRCm38) |
missense |
probably damaging |
1.00 |
R9390:Tsc2
|
UTSW |
17 |
24,604,850 (GRCm38) |
missense |
probably damaging |
1.00 |
R9542:Tsc2
|
UTSW |
17 |
24,600,334 (GRCm38) |
critical splice donor site |
probably null |
|
R9721:Tsc2
|
UTSW |
17 |
24,599,642 (GRCm38) |
nonsense |
probably null |
|
Z1177:Tsc2
|
UTSW |
17 |
24,620,779 (GRCm38) |
missense |
possibly damaging |
0.61 |
|