Incidental Mutation 'R1717:Tsc2'
ID |
191169 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tsc2
|
Ensembl Gene |
ENSMUSG00000002496 |
Gene Name |
TSC complex subunit 2 |
Synonyms |
tuberin, Nafld, tuberous sclerosis 2 |
MMRRC Submission |
039750-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1717 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
24814790-24851604 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 24816042 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glutamine
at position 1715
(R1715Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000154338
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035565]
[ENSMUST00000097373]
[ENSMUST00000226284]
[ENSMUST00000226398]
[ENSMUST00000228412]
[ENSMUST00000227745]
[ENSMUST00000227058]
[ENSMUST00000227804]
[ENSMUST00000227607]
[ENSMUST00000228581]
|
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 |
possibly damaging
Transcript: ENSMUST00000097373
AA Change: R1649Q
PolyPhen 2
Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000094986 Gene: ENSMUSG00000002496 AA Change: R1649Q
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 |
possibly damaging
Transcript: ENSMUST00000226284
AA Change: R1692Q
PolyPhen 2
Score 0.884 (Sensitivity: 0.82; Specificity: 0.94)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000226398
AA Change: R1649Q
PolyPhen 2
Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226473
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000228412
AA Change: R1648Q
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000227745
AA Change: R1715Q
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000227107
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227094
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000227058
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000227804
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000227607
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226691
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227432
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228581
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.4%
|
Validation Efficiency |
98% (81/83) |
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: 85 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4732465J04Rik |
GATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCT |
GATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCT |
10: 95,629,641 (GRCm39) |
|
probably null |
Het |
4930583I09Rik |
T |
C |
17: 65,141,444 (GRCm39) |
N53S |
unknown |
Het |
4933434E20Rik |
T |
A |
3: 89,963,544 (GRCm39) |
S67T |
probably benign |
Het |
Abcc8 |
T |
C |
7: 45,765,239 (GRCm39) |
I1127V |
possibly damaging |
Het |
Abcg3 |
G |
A |
5: 105,111,421 (GRCm39) |
Q349* |
probably null |
Het |
Adam2 |
A |
G |
14: 66,306,007 (GRCm39) |
L158P |
probably damaging |
Het |
Agrn |
GCTCT |
GCTCTCT |
4: 156,250,976 (GRCm39) |
|
probably null |
Het |
Agrp |
G |
T |
8: 106,293,467 (GRCm39) |
T106K |
probably damaging |
Het |
Akap11 |
C |
A |
14: 78,750,788 (GRCm39) |
S533I |
probably benign |
Het |
Aldh1a2 |
A |
T |
9: 71,200,953 (GRCm39) |
N517I |
probably damaging |
Het |
Aldh4a1 |
A |
T |
4: 139,365,840 (GRCm39) |
H277L |
possibly damaging |
Het |
Aldh4a1 |
G |
A |
4: 139,361,305 (GRCm39) |
|
probably null |
Het |
Ankrd27 |
A |
G |
7: 35,327,871 (GRCm39) |
D742G |
possibly damaging |
Het |
Anpep |
C |
T |
7: 79,488,004 (GRCm39) |
E518K |
probably benign |
Het |
Arhgef7 |
C |
A |
8: 11,858,712 (GRCm39) |
|
probably benign |
Het |
Arhgef7 |
C |
A |
8: 11,858,713 (GRCm39) |
|
probably null |
Het |
Armh4 |
T |
C |
14: 49,989,121 (GRCm39) |
D616G |
probably damaging |
Het |
Arvcf |
A |
G |
16: 18,220,319 (GRCm39) |
K568E |
possibly damaging |
Het |
Atp8b3 |
G |
A |
10: 80,364,631 (GRCm39) |
R521W |
probably damaging |
Het |
Casp16 |
A |
G |
17: 23,771,024 (GRCm39) |
I127T |
possibly damaging |
Het |
Cd163 |
A |
G |
6: 124,306,547 (GRCm39) |
|
probably benign |
Het |
Cdh8 |
A |
T |
8: 99,757,337 (GRCm39) |
S754T |
probably damaging |
Het |
Cel |
A |
G |
2: 28,446,789 (GRCm39) |
Y461H |
probably damaging |
Het |
Chmp4b |
A |
G |
2: 154,499,240 (GRCm39) |
I47V |
possibly damaging |
Het |
Col1a1 |
A |
G |
11: 94,839,218 (GRCm39) |
M989V |
unknown |
Het |
Cpsf1 |
A |
T |
15: 76,486,766 (GRCm39) |
S257T |
possibly damaging |
Het |
Csmd1 |
A |
T |
8: 17,266,708 (GRCm39) |
S73T |
possibly damaging |
Het |
Csnk2a2 |
T |
C |
8: 96,182,436 (GRCm39) |
|
probably null |
Het |
Dact2 |
A |
T |
17: 14,418,175 (GRCm39) |
W177R |
probably benign |
Het |
Ddx10 |
A |
G |
9: 53,071,253 (GRCm39) |
V680A |
probably benign |
Het |
Eif5 |
T |
A |
12: 111,508,651 (GRCm39) |
D215E |
probably benign |
Het |
Evpl |
C |
T |
11: 116,116,318 (GRCm39) |
A817T |
probably benign |
Het |
Fmo6 |
T |
A |
1: 162,753,821 (GRCm39) |
R131* |
probably null |
Het |
Fsd2 |
T |
C |
7: 81,184,857 (GRCm39) |
T680A |
probably benign |
Het |
Fsip2 |
T |
C |
2: 82,805,289 (GRCm39) |
V536A |
possibly damaging |
Het |
Fzd8 |
T |
C |
18: 9,214,364 (GRCm39) |
F482S |
probably damaging |
Het |
Gabrb1 |
A |
T |
5: 72,265,694 (GRCm39) |
|
probably null |
Het |
Galnt9 |
T |
G |
5: 110,744,078 (GRCm39) |
I304S |
probably benign |
Het |
Glra3 |
G |
T |
8: 56,393,942 (GRCm39) |
A18S |
probably benign |
Het |
Gm5334 |
A |
C |
7: 68,268,725 (GRCm39) |
|
noncoding transcript |
Het |
Grcc10 |
A |
T |
6: 124,717,476 (GRCm39) |
|
probably benign |
Het |
Hmcn1 |
T |
C |
1: 150,734,937 (GRCm39) |
T192A |
probably damaging |
Het |
Ip6k1 |
G |
A |
9: 107,918,195 (GRCm39) |
E77K |
possibly damaging |
Het |
Irgm2 |
T |
A |
11: 58,111,461 (GRCm39) |
L396Q |
probably damaging |
Het |
Ksr2 |
T |
A |
5: 117,809,514 (GRCm39) |
C426S |
probably damaging |
Het |
Lair1 |
A |
G |
7: 4,013,788 (GRCm39) |
F153S |
probably damaging |
Het |
Lrp1 |
T |
C |
10: 127,392,138 (GRCm39) |
H2835R |
possibly damaging |
Het |
Lrp1 |
T |
C |
10: 127,399,534 (GRCm39) |
T2325A |
probably damaging |
Het |
Lrrd1 |
T |
C |
5: 3,900,580 (GRCm39) |
F295S |
probably damaging |
Het |
Meis1 |
T |
A |
11: 18,960,608 (GRCm39) |
|
probably benign |
Het |
Mkln1 |
T |
A |
6: 31,484,579 (GRCm39) |
I156K |
probably benign |
Het |
Mmd2 |
T |
C |
5: 142,561,105 (GRCm39) |
|
probably benign |
Het |
Morc1 |
A |
G |
16: 48,272,840 (GRCm39) |
I156V |
probably benign |
Het |
Muc4 |
A |
G |
16: 32,753,405 (GRCm38) |
T1094A |
possibly damaging |
Het |
Nckap1 |
A |
G |
2: 80,343,014 (GRCm39) |
|
probably benign |
Het |
Neb |
A |
G |
2: 52,198,759 (GRCm39) |
I394T |
possibly damaging |
Het |
Or12e1 |
A |
T |
2: 87,022,247 (GRCm39) |
N72I |
probably benign |
Het |
Or2t49 |
T |
A |
11: 58,392,885 (GRCm39) |
M166L |
probably benign |
Het |
Or4e2 |
T |
C |
14: 52,688,296 (GRCm39) |
V142A |
probably benign |
Het |
Or5as1 |
A |
T |
2: 86,980,150 (GRCm39) |
L285* |
probably null |
Het |
Or8d1b |
C |
T |
9: 38,887,706 (GRCm39) |
L245F |
probably damaging |
Het |
Pcdha1 |
T |
C |
18: 37,065,237 (GRCm39) |
S634P |
probably benign |
Het |
Pcdhb12 |
T |
A |
18: 37,569,841 (GRCm39) |
V329E |
probably damaging |
Het |
Pcf11 |
A |
T |
7: 92,312,793 (GRCm39) |
D193E |
probably benign |
Het |
Pcsk1 |
G |
C |
13: 75,258,947 (GRCm39) |
M240I |
probably damaging |
Het |
Pdc |
T |
A |
1: 150,208,892 (GRCm39) |
I125N |
probably damaging |
Het |
Plch2 |
C |
T |
4: 155,082,729 (GRCm39) |
G564S |
probably benign |
Het |
Rasgrf1 |
G |
T |
9: 89,835,966 (GRCm39) |
Q231H |
probably damaging |
Het |
Riok1 |
T |
A |
13: 38,236,926 (GRCm39) |
I389N |
probably damaging |
Het |
Ror1 |
T |
A |
4: 100,160,135 (GRCm39) |
S50R |
probably benign |
Het |
Samd13 |
T |
C |
3: 146,352,070 (GRCm39) |
T75A |
probably benign |
Het |
Siglec1 |
G |
A |
2: 130,915,876 (GRCm39) |
H1329Y |
possibly damaging |
Het |
Siglec1 |
T |
C |
2: 130,925,932 (GRCm39) |
N258S |
probably damaging |
Het |
Slbp |
G |
A |
5: 33,802,946 (GRCm39) |
A126V |
probably benign |
Het |
Slc12a4 |
A |
T |
8: 106,674,203 (GRCm39) |
|
probably null |
Het |
Specc1 |
A |
G |
11: 62,019,218 (GRCm39) |
I686V |
possibly damaging |
Het |
Synpo2 |
C |
A |
3: 122,906,203 (GRCm39) |
V1038F |
probably damaging |
Het |
Tbk1 |
G |
A |
10: 121,397,550 (GRCm39) |
T374I |
probably benign |
Het |
Tktl2 |
G |
A |
8: 66,964,999 (GRCm39) |
V186M |
probably damaging |
Het |
Tmem190 |
T |
C |
7: 4,787,132 (GRCm39) |
L112P |
probably damaging |
Het |
Ulbp3 |
A |
T |
10: 3,075,050 (GRCm39) |
|
noncoding transcript |
Het |
Vmn1r46 |
T |
C |
6: 89,953,811 (GRCm39) |
L220P |
probably damaging |
Het |
Vwa3a |
A |
G |
7: 120,392,609 (GRCm39) |
Q816R |
probably benign |
Het |
Zfhx4 |
T |
C |
3: 5,468,164 (GRCm39) |
I2799T |
probably benign |
Het |
Zfp105 |
T |
C |
9: 122,759,696 (GRCm39) |
S456P |
probably damaging |
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 |
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'- CTCAGACATCGCATCTCTGAAGCC -3'
(R):5'- ACCGCTGGACTACAAGTGCAAC -3'
Sequencing Primer
(F):5'- AGTCTTGCGATCCACTTGGAG -3'
(R):5'- CTGGACTACAAGTGCAACCTATTG -3'
|
Posted On |
2014-05-14 |