Incidental Mutation 'R4890:Tsc2'
ID |
377285 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tsc2
|
Ensembl Gene |
ENSMUSG00000002496 |
Gene Name |
TSC complex subunit 2 |
Synonyms |
tuberin, Nafld, tuberous sclerosis 2 |
MMRRC Submission |
042495-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4890 (G1)
|
Quality Score |
214 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
24814790-24851604 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 24819009 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 1276
(S1276T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000154706
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035565]
[ENSMUST00000097373]
[ENSMUST00000226284]
[ENSMUST00000226398]
[ENSMUST00000227745]
[ENSMUST00000228412]
[ENSMUST00000227607]
[ENSMUST00000227804]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000035565
|
SMART Domains |
Protein: ENSMUSP00000049296 Gene: ENSMUSG00000032855
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
LRRNT
|
32 |
71 |
1.61e-8 |
SMART |
LRR_TYP
|
90 |
113 |
2.47e-5 |
SMART |
LRRCT
|
125 |
177 |
3.84e-12 |
SMART |
WSC
|
177 |
271 |
6.93e-34 |
SMART |
PKD
|
272 |
355 |
2.72e-15 |
SMART |
CLECT
|
406 |
530 |
5.72e-20 |
SMART |
low complexity region
|
545 |
558 |
N/A |
INTRINSIC |
low complexity region
|
763 |
788 |
N/A |
INTRINSIC |
PKD
|
930 |
1008 |
1.06e-8 |
SMART |
PKD
|
1015 |
1119 |
2.26e-12 |
SMART |
PKD
|
1122 |
1205 |
2.03e-14 |
SMART |
PKD
|
1208 |
1288 |
1.14e-17 |
SMART |
PKD
|
1290 |
1373 |
2.35e-10 |
SMART |
PKD
|
1374 |
1459 |
7.63e-10 |
SMART |
PKD
|
1464 |
1541 |
1.95e-16 |
SMART |
PKD
|
1544 |
1625 |
1.05e-16 |
SMART |
PKD
|
1631 |
1714 |
1.93e-1 |
SMART |
PKD
|
1716 |
1798 |
2.21e-15 |
SMART |
PKD
|
1799 |
1882 |
5.7e-9 |
SMART |
PKD
|
1884 |
1964 |
1.56e-6 |
SMART |
PKD
|
1968 |
2056 |
3.1e-10 |
SMART |
PKD
|
2057 |
2140 |
1.74e-13 |
SMART |
Pfam:REJ
|
2167 |
2610 |
1e-108 |
PFAM |
low complexity region
|
2697 |
2706 |
N/A |
INTRINSIC |
GPS
|
3003 |
3052 |
1.33e-12 |
SMART |
transmembrane domain
|
3065 |
3087 |
N/A |
INTRINSIC |
LH2
|
3110 |
3224 |
3.5e-18 |
SMART |
transmembrane domain
|
3275 |
3294 |
N/A |
INTRINSIC |
transmembrane domain
|
3314 |
3336 |
N/A |
INTRINSIC |
low complexity region
|
3357 |
3378 |
N/A |
INTRINSIC |
low complexity region
|
3479 |
3492 |
N/A |
INTRINSIC |
transmembrane domain
|
3547 |
3569 |
N/A |
INTRINSIC |
low complexity region
|
3573 |
3591 |
N/A |
INTRINSIC |
low complexity region
|
3626 |
3639 |
N/A |
INTRINSIC |
low complexity region
|
3661 |
3676 |
N/A |
INTRINSIC |
Pfam:PKD_channel
|
3701 |
4103 |
7.1e-125 |
PFAM |
low complexity region
|
4153 |
4172 |
N/A |
INTRINSIC |
low complexity region
|
4238 |
4256 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000097373
AA Change: S1277T
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000094986 Gene: ENSMUSG00000002496 AA Change: S1277T
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 |
noncoding transcript
Transcript: ENSMUST00000116692
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000226284
AA Change: S1320T
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000226398
AA Change: S1277T
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226428
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000227745
AA Change: S1343T
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000228412
AA Change: S1276T
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000227607
AA Change: S1218T
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000227658
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227432
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226985
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000227804
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227094
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000227107
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227330
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226473
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226691
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228729
|
Meta Mutation Damage Score |
0.0787 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.4%
|
Validation Efficiency |
99% (81/82) |
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: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
AA986860 |
T |
C |
1: 130,668,725 (GRCm39) |
|
probably benign |
Het |
Adcy4 |
C |
T |
14: 56,016,486 (GRCm39) |
D322N |
probably damaging |
Het |
Adgrb3 |
T |
C |
1: 25,260,908 (GRCm39) |
N916S |
probably damaging |
Het |
Aox1 |
T |
C |
1: 58,373,862 (GRCm39) |
V841A |
probably benign |
Het |
Baz2b |
A |
T |
2: 59,756,383 (GRCm39) |
M983K |
probably damaging |
Het |
C2cd2l |
A |
G |
9: 44,222,430 (GRCm39) |
F682L |
probably damaging |
Het |
Ccsap |
T |
G |
8: 124,572,160 (GRCm39) |
E114A |
possibly damaging |
Het |
Cept1 |
T |
A |
3: 106,413,123 (GRCm39) |
T201S |
probably damaging |
Het |
Cfap221 |
T |
C |
1: 119,883,476 (GRCm39) |
M232V |
probably benign |
Het |
Chsy1 |
A |
G |
7: 65,759,974 (GRCm39) |
R106G |
probably benign |
Het |
Cit |
C |
T |
5: 116,126,182 (GRCm39) |
|
probably benign |
Het |
Cldn7 |
G |
A |
11: 69,857,918 (GRCm39) |
V42I |
probably benign |
Het |
Cnnm4 |
T |
A |
1: 36,511,345 (GRCm39) |
V191E |
probably benign |
Het |
Cntf |
A |
T |
19: 12,741,326 (GRCm39) |
V178D |
possibly damaging |
Het |
Ctsz |
C |
A |
2: 174,270,393 (GRCm39) |
R263L |
probably damaging |
Het |
Dclk1 |
T |
C |
3: 55,429,353 (GRCm39) |
M407T |
probably benign |
Het |
Dennd1a |
A |
T |
2: 38,066,238 (GRCm39) |
|
probably benign |
Het |
Dnhd1 |
A |
G |
7: 105,306,164 (GRCm39) |
I368V |
possibly damaging |
Het |
Gak |
A |
T |
5: 108,728,742 (GRCm39) |
|
probably benign |
Het |
Hepacam2 |
A |
T |
6: 3,487,231 (GRCm39) |
V42D |
probably damaging |
Het |
Il1rl2 |
CTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT |
CTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT |
1: 40,366,470 (GRCm39) |
|
probably benign |
Het |
Insr |
T |
A |
8: 3,248,234 (GRCm39) |
Q437L |
probably benign |
Het |
Itga8 |
G |
A |
2: 12,198,102 (GRCm39) |
|
probably benign |
Het |
Kansl1 |
A |
T |
11: 104,233,868 (GRCm39) |
C732S |
probably benign |
Het |
Kdsr |
T |
C |
1: 106,680,964 (GRCm39) |
K78R |
probably benign |
Het |
Kif14 |
T |
C |
1: 136,414,868 (GRCm39) |
S785P |
possibly damaging |
Het |
Lbr |
C |
A |
1: 181,645,133 (GRCm39) |
L506F |
probably benign |
Het |
Macf1 |
C |
A |
4: 123,342,031 (GRCm39) |
C2720F |
probably damaging |
Het |
Mapt |
G |
A |
11: 104,218,975 (GRCm39) |
D738N |
probably damaging |
Het |
Mroh9 |
T |
C |
1: 162,854,093 (GRCm39) |
Y769C |
probably damaging |
Het |
Mylk2 |
A |
G |
2: 152,762,274 (GRCm39) |
N515S |
possibly damaging |
Het |
Myorg |
G |
A |
4: 41,498,877 (GRCm39) |
T251M |
probably benign |
Het |
Nek10 |
T |
A |
14: 14,860,986 (GRCm38) |
L513M |
possibly damaging |
Het |
Nrxn2 |
A |
T |
19: 6,498,308 (GRCm39) |
S258C |
possibly damaging |
Het |
Nudt16l2 |
A |
T |
9: 105,021,786 (GRCm39) |
S87T |
possibly damaging |
Het |
Or52e15 |
G |
A |
7: 104,645,311 (GRCm39) |
H267Y |
probably benign |
Het |
Or5m12 |
C |
T |
2: 85,735,092 (GRCm39) |
C102Y |
possibly damaging |
Het |
Or6c1b |
C |
T |
10: 129,272,948 (GRCm39) |
T89I |
probably benign |
Het |
Or6z5 |
T |
A |
7: 6,477,848 (GRCm39) |
C246* |
probably null |
Het |
Or8c15 |
G |
T |
9: 38,120,586 (GRCm39) |
C79F |
probably benign |
Het |
Osgin2 |
G |
A |
4: 16,013,739 (GRCm39) |
|
probably benign |
Het |
Otud3 |
G |
A |
4: 138,641,060 (GRCm39) |
R27W |
probably damaging |
Het |
Pcare |
C |
T |
17: 72,059,306 (GRCm39) |
V124I |
possibly damaging |
Het |
Pcdhga12 |
T |
A |
18: 37,901,290 (GRCm39) |
F707L |
possibly damaging |
Het |
Pik3r1 |
T |
C |
13: 101,894,118 (GRCm39) |
E17G |
probably damaging |
Het |
Pramel19 |
A |
G |
4: 101,798,788 (GRCm39) |
E253G |
probably damaging |
Het |
Prickle4 |
AAGAGAGAGAGAGAGA |
AAGAGAGAGAGAGA |
17: 48,000,806 (GRCm39) |
|
probably benign |
Het |
Prokr1 |
G |
A |
6: 87,565,678 (GRCm39) |
R56W |
probably benign |
Het |
Ptprz1 |
G |
A |
6: 23,024,957 (GRCm39) |
C1731Y |
probably damaging |
Het |
Rbm15b |
A |
T |
9: 106,763,028 (GRCm39) |
F380Y |
possibly damaging |
Het |
Rfc5 |
G |
A |
5: 117,524,885 (GRCm39) |
L56F |
probably damaging |
Het |
Rhpn2 |
A |
T |
7: 35,090,228 (GRCm39) |
M617L |
probably benign |
Het |
Rusc1 |
T |
C |
3: 88,995,577 (GRCm39) |
|
probably null |
Het |
Sec23ip |
A |
G |
7: 128,354,634 (GRCm39) |
N297D |
probably damaging |
Het |
Sema3c |
A |
T |
5: 17,880,157 (GRCm39) |
H259L |
probably benign |
Het |
Sgsm1 |
G |
A |
5: 113,428,328 (GRCm39) |
|
probably benign |
Het |
Shisal2a |
A |
G |
4: 108,224,998 (GRCm39) |
V188A |
probably benign |
Het |
Sipa1l2 |
T |
A |
8: 126,218,606 (GRCm39) |
S244C |
probably damaging |
Het |
Slc39a5 |
T |
C |
10: 128,234,316 (GRCm39) |
I196V |
probably benign |
Het |
Smim22 |
G |
A |
16: 4,825,722 (GRCm39) |
A36T |
probably damaging |
Het |
Spag6 |
A |
G |
2: 18,747,588 (GRCm39) |
I408V |
probably benign |
Het |
Sult2a5 |
A |
G |
7: 13,359,311 (GRCm39) |
I96V |
probably benign |
Het |
Tmcc2 |
C |
A |
1: 132,308,517 (GRCm39) |
A126S |
probably benign |
Het |
Ttc21a |
A |
G |
9: 119,788,103 (GRCm39) |
S843G |
probably benign |
Het |
Tubd1 |
G |
C |
11: 86,443,621 (GRCm39) |
V110L |
possibly damaging |
Het |
Ugt1a2 |
T |
A |
1: 88,128,534 (GRCm39) |
V59D |
probably damaging |
Het |
Vmn2r-ps158 |
A |
G |
7: 42,697,024 (GRCm39) |
R687G |
probably damaging |
Het |
Vsig8 |
T |
A |
1: 172,389,142 (GRCm39) |
H131Q |
probably benign |
Het |
Zbtb42 |
C |
A |
12: 112,646,861 (GRCm39) |
Y345* |
probably null |
Het |
Zfp612 |
T |
A |
8: 110,816,576 (GRCm39) |
C594* |
probably null |
Het |
Zfp940 |
A |
G |
7: 29,544,824 (GRCm39) |
V361A |
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 |
|
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 |
|
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'- TGTCCTGTAAGGTCTGCAACTC -3'
(R):5'- CTGGCTCTGTACTGACTTGC -3'
Sequencing Primer
(F):5'- TGTAAGGTCTGCAACTCCGGAG -3'
(R):5'- TGAGCTGGATAGGCCTTCC -3'
|
Posted On |
2016-03-17 |