Incidental Mutation 'R0025:Tsc2'
| ID |
40825 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tsc2
|
| Ensembl Gene |
ENSMUSG00000002496 |
| Gene Name |
TSC complex subunit 2 |
| Synonyms |
tuberin, Nafld, tuberous sclerosis 2 |
| MMRRC Submission |
038320-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0025 (G1)
|
| Quality Score |
83 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
24814790-24851604 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 24849978 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154706
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047611]
[ENSMUST00000097373]
[ENSMUST00000226284]
[ENSMUST00000226398]
[ENSMUST00000227509]
[ENSMUST00000227607]
[ENSMUST00000227745]
[ENSMUST00000228412]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047611
|
| SMART Domains |
Protein: ENSMUSP00000047413
Gene: ENSMUSG00000041429
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
20 |
N/A |
INTRINSIC |
|
low complexity region
|
24 |
37 |
N/A |
INTRINSIC |
|
low complexity region
|
55 |
68 |
N/A |
INTRINSIC |
|
ENDO3c
|
126 |
276 |
1.06e-58 |
SMART |
|
FES
|
277 |
297 |
4.82e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000097373
|
| SMART Domains |
Protein: ENSMUSP00000094986
Gene: ENSMUSG00000002496
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3384
|
54 |
470 |
4e-103 |
PFAM |
|
Pfam:Tuberin
|
555 |
903 |
5.9e-149 |
PFAM |
|
low complexity region
|
1023 |
1054 |
N/A |
INTRINSIC |
|
low complexity region
|
1271 |
1278 |
N/A |
INTRINSIC |
|
low complexity region
|
1310 |
1328 |
N/A |
INTRINSIC |
|
low complexity region
|
1330 |
1344 |
N/A |
INTRINSIC |
|
low complexity region
|
1378 |
1398 |
N/A |
INTRINSIC |
|
Pfam:Rap_GAP
|
1497 |
1685 |
1.3e-43 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226284
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226398
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227509
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227607
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227745
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227754
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228412
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.7%
- 20x: 90.3%
|
| Validation Efficiency |
98% (115/117) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Mutations in this gene lead to tuberous sclerosis complex. Its gene product is believed to be a tumor suppressor and is able to stimulate specific GTPases. The protein associates with hamartin in a cytosolic complex, possibly acting as a chaperone for hamartin. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants exhibit liver hypoplasia, open neural tube, thickened myocardium and die by embryonic day 9.5-12.5. Heterozygotes develop renal cystadenomas, liver hemangiomas (sometimes resulting in fatal bleeding) and lung adenomas. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 106 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm1 |
A |
T |
7: 119,257,538 (GRCm39) |
T435S |
probably damaging |
Het |
| Agtpbp1 |
G |
A |
13: 59,648,014 (GRCm39) |
T602I |
probably benign |
Het |
| Ahnak2 |
T |
A |
12: 112,749,154 (GRCm39) |
D231V |
probably damaging |
Het |
| Ampd3 |
G |
A |
7: 110,392,876 (GRCm39) |
D215N |
probably benign |
Het |
| Ankrd17 |
T |
C |
5: 90,398,264 (GRCm39) |
D1762G |
probably damaging |
Het |
| Asb8 |
C |
T |
15: 98,040,552 (GRCm39) |
V37I |
possibly damaging |
Het |
| Bicra |
T |
C |
7: 15,721,436 (GRCm39) |
T694A |
possibly damaging |
Het |
| Btnl6 |
A |
T |
17: 34,733,273 (GRCm39) |
M234K |
probably benign |
Het |
| Ccnb1 |
A |
T |
13: 100,916,289 (GRCm39) |
V336D |
probably damaging |
Het |
| Cdca8 |
A |
T |
4: 124,815,047 (GRCm39) |
L190Q |
possibly damaging |
Het |
| Cep290 |
A |
T |
10: 100,373,693 (GRCm39) |
L1324F |
probably damaging |
Het |
| Ces1f |
T |
C |
8: 93,998,513 (GRCm39) |
E161G |
probably benign |
Het |
| Ces2g |
A |
G |
8: 105,692,628 (GRCm39) |
|
probably benign |
Het |
| Cfap74 |
C |
T |
4: 155,510,572 (GRCm39) |
R386C |
probably benign |
Het |
| Clec3b |
A |
G |
9: 122,986,090 (GRCm39) |
T163A |
probably benign |
Het |
| Cntnap4 |
T |
G |
8: 113,529,796 (GRCm39) |
L668R |
probably damaging |
Het |
| Col27a1 |
A |
G |
4: 63,194,214 (GRCm39) |
D857G |
probably damaging |
Het |
| Csf1 |
A |
G |
3: 107,655,960 (GRCm39) |
V245A |
probably benign |
Het |
| Ctss |
A |
G |
3: 95,457,448 (GRCm39) |
Y302C |
probably damaging |
Het |
| Cyb5d1 |
A |
G |
11: 69,285,792 (GRCm39) |
|
probably null |
Het |
| Cyp1a2 |
A |
G |
9: 57,589,344 (GRCm39) |
S157P |
probably damaging |
Het |
| Cyp2b9 |
A |
T |
7: 25,900,238 (GRCm39) |
T349S |
probably benign |
Het |
| Dennd6b |
T |
C |
15: 89,070,386 (GRCm39) |
I428V |
probably benign |
Het |
| Denr |
A |
G |
5: 124,065,298 (GRCm39) |
|
probably benign |
Het |
| Dnah9 |
G |
A |
11: 65,860,781 (GRCm39) |
|
probably benign |
Het |
| Dock3 |
G |
T |
9: 106,790,467 (GRCm39) |
Q1419K |
possibly damaging |
Het |
| Dph3b-ps |
A |
T |
13: 106,683,375 (GRCm39) |
|
noncoding transcript |
Het |
| Emc7 |
G |
T |
2: 112,289,830 (GRCm39) |
D87Y |
probably damaging |
Het |
| Enah |
T |
C |
1: 181,740,938 (GRCm39) |
E462G |
possibly damaging |
Het |
| Eno1b |
T |
C |
18: 48,180,806 (GRCm39) |
I328T |
probably benign |
Het |
| Enpp6 |
A |
G |
8: 47,519,035 (GRCm39) |
K268E |
probably damaging |
Het |
| Eps15l1 |
T |
G |
8: 73,135,341 (GRCm39) |
|
probably benign |
Het |
| Fam151a |
T |
C |
4: 106,605,371 (GRCm39) |
Y578H |
probably benign |
Het |
| Fmn2 |
T |
C |
1: 174,618,880 (GRCm39) |
V1512A |
probably damaging |
Het |
| Focad |
C |
A |
4: 88,327,196 (GRCm39) |
N168K |
probably benign |
Het |
| Fyco1 |
A |
G |
9: 123,658,074 (GRCm39) |
C701R |
probably damaging |
Het |
| Gabbr1 |
G |
T |
17: 37,378,102 (GRCm39) |
|
probably benign |
Het |
| Golga7b |
A |
T |
19: 42,255,278 (GRCm39) |
E76V |
probably damaging |
Het |
| Gucy2d |
A |
G |
7: 98,116,959 (GRCm39) |
D924G |
probably benign |
Het |
| H2-M9 |
A |
G |
17: 36,952,647 (GRCm39) |
F133S |
probably damaging |
Het |
| Hc |
A |
G |
2: 34,876,304 (GRCm39) |
Y1581H |
probably damaging |
Het |
| Herc3 |
C |
T |
6: 58,851,293 (GRCm39) |
P514L |
probably damaging |
Het |
| Hormad1 |
T |
C |
3: 95,492,436 (GRCm39) |
|
probably benign |
Het |
| Iigp1 |
T |
A |
18: 60,523,859 (GRCm39) |
S326T |
possibly damaging |
Het |
| Itga2 |
G |
A |
13: 115,007,032 (GRCm39) |
S432L |
possibly damaging |
Het |
| Kcnk7 |
T |
G |
19: 5,757,042 (GRCm39) |
*344G |
probably null |
Het |
| Kif13a |
A |
G |
13: 46,939,987 (GRCm39) |
|
probably null |
Het |
| Kif1a |
A |
C |
1: 92,970,080 (GRCm39) |
I1027S |
probably damaging |
Het |
| Kif2c |
G |
T |
4: 117,022,714 (GRCm39) |
H416Q |
probably damaging |
Het |
| Liat1 |
AGAGGAGGAGGAGGAGG |
AGAGGAGGAGGAGG |
11: 75,890,941 (GRCm39) |
|
probably benign |
Het |
| Map3k1 |
A |
G |
13: 111,892,663 (GRCm39) |
V864A |
probably benign |
Het |
| Mark2 |
T |
C |
19: 7,263,287 (GRCm39) |
D160G |
probably damaging |
Het |
| Mbd4 |
A |
G |
6: 115,821,529 (GRCm39) |
|
probably null |
Het |
| Micu1 |
A |
G |
10: 59,624,699 (GRCm39) |
|
probably null |
Het |
| Mink1 |
T |
C |
11: 70,503,868 (GRCm39) |
W1263R |
probably damaging |
Het |
| Mov10 |
A |
C |
3: 104,711,919 (GRCm39) |
L224R |
probably damaging |
Het |
| Ndel1 |
T |
C |
11: 68,726,999 (GRCm39) |
E226G |
probably damaging |
Het |
| Neb |
A |
T |
2: 52,112,786 (GRCm39) |
V4336E |
probably damaging |
Het |
| Nln |
T |
A |
13: 104,173,399 (GRCm39) |
K602N |
probably damaging |
Het |
| Nlrp14 |
A |
T |
7: 106,780,465 (GRCm39) |
|
probably benign |
Het |
| Nmd3 |
A |
T |
3: 69,655,654 (GRCm39) |
D445V |
probably damaging |
Het |
| Nop14 |
T |
C |
5: 34,801,297 (GRCm39) |
I625V |
probably benign |
Het |
| Notch1 |
T |
C |
2: 26,360,943 (GRCm39) |
Q1134R |
probably damaging |
Het |
| Nr4a2 |
T |
C |
2: 56,998,627 (GRCm39) |
I392M |
probably benign |
Het |
| Or13n4 |
A |
G |
7: 106,422,963 (GRCm39) |
F257L |
possibly damaging |
Het |
| Or4f6 |
T |
A |
2: 111,839,365 (GRCm39) |
L55F |
probably damaging |
Het |
| Or8b57 |
A |
G |
9: 40,003,549 (GRCm39) |
S234P |
probably damaging |
Het |
| Osbp |
T |
C |
19: 11,961,322 (GRCm39) |
Y454H |
probably damaging |
Het |
| Pak4 |
G |
A |
7: 28,263,708 (GRCm39) |
R343C |
probably damaging |
Het |
| Pak5 |
T |
C |
2: 135,942,704 (GRCm39) |
K479E |
possibly damaging |
Het |
| Pard3 |
C |
A |
8: 127,888,058 (GRCm39) |
D73E |
probably damaging |
Het |
| Pcdh10 |
T |
C |
3: 45,334,934 (GRCm39) |
V416A |
possibly damaging |
Het |
| Plek |
A |
C |
11: 16,935,594 (GRCm39) |
W261G |
probably damaging |
Het |
| Pmp22 |
A |
T |
11: 63,049,076 (GRCm39) |
|
probably null |
Het |
| Prph2 |
A |
C |
17: 47,230,697 (GRCm39) |
K197Q |
probably benign |
Het |
| Prss45 |
T |
A |
9: 110,669,962 (GRCm39) |
L257Q |
probably damaging |
Het |
| Psmb6 |
C |
A |
11: 70,417,171 (GRCm39) |
H73Q |
probably benign |
Het |
| Rin2 |
T |
C |
2: 145,720,752 (GRCm39) |
|
probably benign |
Het |
| Rps6kb1 |
A |
T |
11: 86,402,413 (GRCm39) |
|
probably null |
Het |
| Scn10a |
C |
A |
9: 119,499,550 (GRCm39) |
D248Y |
probably damaging |
Het |
| Scn4a |
C |
T |
11: 106,215,386 (GRCm39) |
V1197I |
probably benign |
Het |
| Siglecf |
A |
T |
7: 43,001,349 (GRCm39) |
I106F |
probably benign |
Het |
| Sik1 |
A |
G |
17: 32,066,249 (GRCm39) |
|
probably benign |
Het |
| Slc22a21 |
T |
G |
11: 53,870,514 (GRCm39) |
N57T |
probably damaging |
Het |
| Slc36a2 |
A |
G |
11: 55,053,621 (GRCm39) |
L339P |
probably damaging |
Het |
| Slc4a9 |
G |
T |
18: 36,664,719 (GRCm39) |
|
probably benign |
Het |
| Smg1 |
G |
A |
7: 117,811,666 (GRCm39) |
T104I |
possibly damaging |
Het |
| Stc2 |
A |
T |
11: 31,315,559 (GRCm39) |
|
probably null |
Het |
| Stx18 |
T |
A |
5: 38,249,908 (GRCm39) |
Y74N |
probably damaging |
Het |
| Stxbp5 |
A |
T |
10: 9,638,492 (GRCm39) |
H1102Q |
probably damaging |
Het |
| Tnfaip8l2 |
G |
A |
3: 95,047,339 (GRCm39) |
L175F |
probably damaging |
Het |
| Tom1l2 |
T |
C |
11: 60,120,960 (GRCm39) |
K450E |
probably damaging |
Het |
| Tpo |
T |
C |
12: 30,150,389 (GRCm39) |
Q497R |
probably benign |
Het |
| Tprg1l |
G |
T |
4: 154,244,802 (GRCm39) |
|
probably benign |
Het |
| Triml2 |
A |
G |
8: 43,638,469 (GRCm39) |
M146V |
probably benign |
Het |
| Tut7 |
A |
T |
13: 59,953,142 (GRCm39) |
D99E |
probably benign |
Het |
| Vit |
G |
A |
17: 78,907,264 (GRCm39) |
G229R |
probably benign |
Het |
| Vmn2r19 |
C |
T |
6: 123,308,506 (GRCm39) |
L528F |
probably benign |
Het |
| Vwf |
T |
A |
6: 125,659,775 (GRCm39) |
I2658N |
probably benign |
Het |
| Wdfy3 |
T |
C |
5: 101,992,912 (GRCm39) |
D3341G |
probably damaging |
Het |
| Wdr36 |
T |
A |
18: 32,992,360 (GRCm39) |
D632E |
probably damaging |
Het |
| Wdr47 |
G |
T |
3: 108,545,307 (GRCm39) |
A733S |
probably damaging |
Het |
| Zfp458 |
T |
A |
13: 67,405,962 (GRCm39) |
H156L |
probably damaging |
Het |
| Zfp654 |
A |
G |
16: 64,605,181 (GRCm39) |
V466A |
probably benign |
Het |
| Zfp804b |
T |
C |
5: 6,821,665 (GRCm39) |
E466G |
probably damaging |
Het |
| Zfp941 |
T |
C |
7: 140,393,185 (GRCm39) |
D58G |
probably benign |
Het |
|
| Other mutations in Tsc2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00231:Tsc2
|
APN |
17 |
24,827,081 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00985:Tsc2
|
APN |
17 |
24,816,105 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01386:Tsc2
|
APN |
17 |
24,832,259 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01468:Tsc2
|
APN |
17 |
24,840,071 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL01530:Tsc2
|
APN |
17 |
24,841,636 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
IGL02390:Tsc2
|
APN |
17 |
24,819,427 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02398:Tsc2
|
APN |
17 |
24,840,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02741:Tsc2
|
APN |
17 |
24,848,943 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03191:Tsc2
|
APN |
17 |
24,847,028 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03372:Tsc2
|
APN |
17 |
24,838,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03412:Tsc2
|
APN |
17 |
24,816,042 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Twitch
|
UTSW |
17 |
24,815,716 (GRCm39) |
splice site |
probably null |
|
|
PIT4515001:Tsc2
|
UTSW |
17 |
24,840,121 (GRCm39) |
missense |
probably benign |
0.15 |
|
R0025:Tsc2
|
UTSW |
17 |
24,849,978 (GRCm39) |
splice site |
probably benign |
|
|
R0138:Tsc2
|
UTSW |
17 |
24,818,600 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R0540:Tsc2
|
UTSW |
17 |
24,840,686 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0570:Tsc2
|
UTSW |
17 |
24,845,701 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0607:Tsc2
|
UTSW |
17 |
24,840,686 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0826:Tsc2
|
UTSW |
17 |
24,815,932 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1430:Tsc2
|
UTSW |
17 |
24,817,997 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1440:Tsc2
|
UTSW |
17 |
24,833,366 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1466:Tsc2
|
UTSW |
17 |
24,827,947 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1466:Tsc2
|
UTSW |
17 |
24,827,947 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1541:Tsc2
|
UTSW |
17 |
24,850,950 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1717:Tsc2
|
UTSW |
17 |
24,816,042 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1799:Tsc2
|
UTSW |
17 |
24,823,382 (GRCm39) |
missense |
probably benign |
|
|
R2030:Tsc2
|
UTSW |
17 |
24,842,444 (GRCm39) |
splice site |
probably benign |
|
|
R2147:Tsc2
|
UTSW |
17 |
24,840,116 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R2888:Tsc2
|
UTSW |
17 |
24,850,969 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3609:Tsc2
|
UTSW |
17 |
24,841,524 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R3610:Tsc2
|
UTSW |
17 |
24,841,524 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R3811:Tsc2
|
UTSW |
17 |
24,848,011 (GRCm39) |
missense |
probably benign |
0.09 |
|
R3895:Tsc2
|
UTSW |
17 |
24,818,786 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3962:Tsc2
|
UTSW |
17 |
24,840,140 (GRCm39) |
splice site |
probably benign |
|
|
R3971:Tsc2
|
UTSW |
17 |
24,842,562 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4018:Tsc2
|
UTSW |
17 |
24,844,255 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4184:Tsc2
|
UTSW |
17 |
24,850,990 (GRCm39) |
missense |
probably benign |
0.43 |
|
R4435:Tsc2
|
UTSW |
17 |
24,818,687 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4437:Tsc2
|
UTSW |
17 |
24,818,687 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4474:Tsc2
|
UTSW |
17 |
24,816,238 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4703:Tsc2
|
UTSW |
17 |
24,823,883 (GRCm39) |
missense |
probably benign |
0.13 |
|
R4731:Tsc2
|
UTSW |
17 |
24,822,249 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R4732:Tsc2
|
UTSW |
17 |
24,822,249 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R4733:Tsc2
|
UTSW |
17 |
24,822,249 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R4817:Tsc2
|
UTSW |
17 |
24,815,716 (GRCm39) |
splice site |
probably null |
|
|
R4890:Tsc2
|
UTSW |
17 |
24,819,009 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4922:Tsc2
|
UTSW |
17 |
24,819,343 (GRCm39) |
missense |
probably benign |
0.22 |
|
R5119:Tsc2
|
UTSW |
17 |
24,822,254 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5393:Tsc2
|
UTSW |
17 |
24,819,370 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5785:Tsc2
|
UTSW |
17 |
24,818,861 (GRCm39) |
splice site |
probably null |
|
|
R5838:Tsc2
|
UTSW |
17 |
24,832,190 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5857:Tsc2
|
UTSW |
17 |
24,818,981 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5911:Tsc2
|
UTSW |
17 |
24,819,361 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R5988:Tsc2
|
UTSW |
17 |
24,839,740 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6275:Tsc2
|
UTSW |
17 |
24,819,394 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6290:Tsc2
|
UTSW |
17 |
24,815,884 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6371:Tsc2
|
UTSW |
17 |
24,845,688 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6467:Tsc2
|
UTSW |
17 |
24,828,101 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6577:Tsc2
|
UTSW |
17 |
24,829,473 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6728:Tsc2
|
UTSW |
17 |
24,840,098 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6918:Tsc2
|
UTSW |
17 |
24,832,203 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6995:Tsc2
|
UTSW |
17 |
24,847,028 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7026:Tsc2
|
UTSW |
17 |
24,845,713 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7136:Tsc2
|
UTSW |
17 |
24,832,254 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7236:Tsc2
|
UTSW |
17 |
24,842,568 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7243:Tsc2
|
UTSW |
17 |
24,818,604 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7249:Tsc2
|
UTSW |
17 |
24,826,729 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7450:Tsc2
|
UTSW |
17 |
24,819,005 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7522:Tsc2
|
UTSW |
17 |
24,849,939 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7529:Tsc2
|
UTSW |
17 |
24,816,922 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7637:Tsc2
|
UTSW |
17 |
24,826,466 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7781:Tsc2
|
UTSW |
17 |
24,827,089 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R8005:Tsc2
|
UTSW |
17 |
24,818,570 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8262:Tsc2
|
UTSW |
17 |
24,833,340 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8268:Tsc2
|
UTSW |
17 |
24,818,984 (GRCm39) |
missense |
probably benign |
0.44 |
|
R8400:Tsc2
|
UTSW |
17 |
24,823,961 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R9020:Tsc2
|
UTSW |
17 |
24,845,691 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9039:Tsc2
|
UTSW |
17 |
24,826,489 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9065:Tsc2
|
UTSW |
17 |
24,822,164 (GRCm39) |
missense |
probably benign |
0.39 |
|
R9123:Tsc2
|
UTSW |
17 |
24,823,802 (GRCm39) |
missense |
probably null |
0.40 |
|
R9125:Tsc2
|
UTSW |
17 |
24,823,802 (GRCm39) |
missense |
probably null |
0.40 |
|
R9186:Tsc2
|
UTSW |
17 |
24,823,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9390:Tsc2
|
UTSW |
17 |
24,823,824 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9542:Tsc2
|
UTSW |
17 |
24,819,308 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9721:Tsc2
|
UTSW |
17 |
24,818,616 (GRCm39) |
nonsense |
probably null |
|
|
Z1177:Tsc2
|
UTSW |
17 |
24,839,753 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTCAGGTTGCACTTAGGGCATTTC -3'
(R):5'- TATGCTGCTAATCCTGCCCAGCAC -3'
Sequencing Primer
(F):5'- gctgaggaaggaagaccac -3'
(R):5'- CGCTGgagagacagaggaag -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation