Incidental Mutation 'R0826:Tsc2'
ID |
78264 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tsc2
|
Ensembl Gene |
ENSMUSG00000002496 |
Gene Name |
TSC complex subunit 2 |
Synonyms |
tuberin, Nafld, tuberous sclerosis 2 |
MMRRC Submission |
039006-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0826 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
24814790-24851604 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 24815932 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 150
(L150P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153864
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035565]
[ENSMUST00000097373]
[ENSMUST00000226284]
[ENSMUST00000226398]
[ENSMUST00000227804]
[ENSMUST00000227607]
[ENSMUST00000228412]
[ENSMUST00000227058]
[ENSMUST00000227745]
[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 |
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 |
noncoding transcript
Transcript: ENSMUST00000116692
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000226284
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000226398
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226473
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226691
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000227804
AA Change: L150P
PolyPhen 2
Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227094
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000227107
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000227607
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228412
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000227058
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000227745
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227432
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228581
|
Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.6%
- 10x: 95.7%
- 20x: 86.3%
|
Validation Efficiency |
100% (69/69) |
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: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930433I11Rik |
A |
T |
7: 40,642,480 (GRCm39) |
T141S |
probably benign |
Het |
4931406C07Rik |
T |
C |
9: 15,203,292 (GRCm39) |
|
probably null |
Het |
Adamts16 |
T |
A |
13: 70,916,811 (GRCm39) |
D727V |
possibly damaging |
Het |
Anxa10 |
A |
C |
8: 62,529,318 (GRCm39) |
L133* |
probably null |
Het |
Arfgef3 |
G |
A |
10: 18,465,414 (GRCm39) |
T2143I |
probably damaging |
Het |
Arhgef17 |
T |
C |
7: 100,579,950 (GRCm39) |
T333A |
probably benign |
Het |
Arhgef40 |
A |
G |
14: 52,238,450 (GRCm39) |
T1310A |
probably benign |
Het |
Atg10 |
C |
T |
13: 91,084,705 (GRCm39) |
|
probably null |
Het |
Atp1a1 |
A |
G |
3: 101,492,169 (GRCm39) |
F569S |
probably damaging |
Het |
Baiap3 |
A |
G |
17: 25,464,203 (GRCm39) |
W849R |
possibly damaging |
Het |
Baz1a |
A |
T |
12: 54,977,097 (GRCm39) |
Y9* |
probably null |
Het |
Catsperg2 |
C |
T |
7: 29,405,049 (GRCm39) |
D702N |
possibly damaging |
Het |
Clasrp |
G |
T |
7: 19,318,226 (GRCm39) |
|
probably benign |
Het |
Col11a1 |
G |
A |
3: 113,932,414 (GRCm39) |
R113H |
unknown |
Het |
Col19a1 |
T |
C |
1: 24,565,467 (GRCm39) |
K288R |
unknown |
Het |
Ctnnbl1 |
C |
T |
2: 157,641,337 (GRCm39) |
|
probably benign |
Het |
Cttnbp2 |
A |
G |
6: 18,405,177 (GRCm39) |
|
probably benign |
Het |
Dnah1 |
T |
A |
14: 31,025,864 (GRCm39) |
I828F |
probably benign |
Het |
Dpf2 |
G |
T |
19: 5,957,155 (GRCm39) |
Q23K |
probably damaging |
Het |
Dsc3 |
T |
A |
18: 20,114,229 (GRCm39) |
I342F |
probably damaging |
Het |
Enpp3 |
A |
G |
10: 24,671,614 (GRCm39) |
L460P |
probably damaging |
Het |
Epb41l2 |
A |
G |
10: 25,380,090 (GRCm39) |
E871G |
probably damaging |
Het |
Exoc2 |
T |
C |
13: 31,040,780 (GRCm39) |
|
probably null |
Het |
Fam243 |
G |
A |
16: 92,118,075 (GRCm39) |
S71L |
probably benign |
Het |
Fpr-rs7 |
A |
T |
17: 20,333,888 (GRCm39) |
S201T |
probably benign |
Het |
Gtf2ird2 |
T |
C |
5: 134,245,797 (GRCm39) |
F685S |
probably damaging |
Het |
Helz2 |
C |
T |
2: 180,882,646 (GRCm39) |
R49H |
possibly damaging |
Het |
Ica1 |
A |
G |
6: 8,667,375 (GRCm39) |
|
probably benign |
Het |
Ift56 |
A |
G |
6: 38,402,049 (GRCm39) |
|
probably null |
Het |
Iqca1 |
C |
A |
1: 90,070,453 (GRCm39) |
G133V |
probably null |
Het |
Kif21a |
A |
G |
15: 90,881,744 (GRCm39) |
|
probably null |
Het |
Lamb3 |
T |
A |
1: 193,013,216 (GRCm39) |
C480* |
probably null |
Het |
Lamc2 |
A |
G |
1: 153,027,828 (GRCm39) |
S199P |
probably damaging |
Het |
Lrfn3 |
T |
C |
7: 30,059,676 (GRCm39) |
N183S |
probably benign |
Het |
Lsm14a |
C |
A |
7: 34,070,470 (GRCm39) |
|
probably benign |
Het |
Mest |
C |
A |
6: 30,742,813 (GRCm39) |
H146Q |
probably damaging |
Het |
Mmp27 |
T |
C |
9: 7,579,010 (GRCm39) |
V339A |
probably damaging |
Het |
Myo16 |
T |
C |
8: 10,426,285 (GRCm39) |
|
probably benign |
Het |
Myoz1 |
C |
T |
14: 20,703,679 (GRCm39) |
|
probably benign |
Het |
Nlrp5 |
A |
G |
7: 23,117,133 (GRCm39) |
M286V |
probably benign |
Het |
Optc |
T |
C |
1: 133,832,893 (GRCm39) |
K69R |
probably benign |
Het |
Or13c3 |
C |
T |
4: 52,855,566 (GRCm39) |
V316I |
probably benign |
Het |
Or2y1c |
A |
T |
11: 49,361,158 (GRCm39) |
Y60F |
probably damaging |
Het |
Or4a77 |
A |
C |
2: 89,487,181 (GRCm39) |
N201K |
possibly damaging |
Het |
Or8g18 |
C |
T |
9: 39,149,725 (GRCm39) |
M1I |
probably null |
Het |
Osbpl3 |
A |
T |
6: 50,323,357 (GRCm39) |
M242K |
probably damaging |
Het |
Pdzd9 |
T |
A |
7: 120,267,624 (GRCm39) |
S64C |
probably damaging |
Het |
Pik3cg |
A |
G |
12: 32,245,672 (GRCm39) |
S859P |
possibly damaging |
Het |
Ppp1r12a |
G |
T |
10: 108,066,414 (GRCm39) |
A202S |
possibly damaging |
Het |
Rab32 |
A |
T |
10: 10,426,611 (GRCm39) |
F112I |
possibly damaging |
Het |
Ror2 |
T |
C |
13: 53,267,253 (GRCm39) |
Y394C |
probably damaging |
Het |
Rtn3 |
A |
G |
19: 7,445,245 (GRCm39) |
|
probably benign |
Het |
Sbk1 |
C |
T |
7: 125,891,007 (GRCm39) |
P147L |
probably damaging |
Het |
Shpk |
T |
A |
11: 73,094,857 (GRCm39) |
M91K |
probably damaging |
Het |
Slco6c1 |
C |
T |
1: 97,055,826 (GRCm39) |
S25N |
probably benign |
Het |
Snx2 |
A |
T |
18: 53,327,594 (GRCm39) |
T107S |
probably benign |
Het |
Tle2 |
G |
A |
10: 81,422,148 (GRCm39) |
V397I |
possibly damaging |
Het |
Tmem131l |
T |
C |
3: 83,805,724 (GRCm39) |
D1573G |
probably damaging |
Het |
Tnfrsf8 |
A |
G |
4: 145,011,708 (GRCm39) |
|
probably benign |
Het |
Tpmt |
T |
C |
13: 47,194,965 (GRCm39) |
E36G |
probably benign |
Het |
Trim30c |
T |
A |
7: 104,032,688 (GRCm39) |
T257S |
probably benign |
Het |
Upf3a |
G |
C |
8: 13,848,338 (GRCm39) |
G378A |
possibly damaging |
Het |
Yeats2 |
A |
T |
16: 20,011,966 (GRCm39) |
K514* |
probably null |
Het |
Zfp11 |
A |
G |
5: 129,734,589 (GRCm39) |
Y291H |
probably benign |
Het |
Zfp457 |
T |
C |
13: 67,441,378 (GRCm39) |
D399G |
possibly 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 |
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'- TGTGAAGTCATCCACGGAGGAAATG -3'
(R):5'- CCAAGATTGTGTCTGACCGCAACC -3'
Sequencing Primer
(F):5'- TCTTCACGGATCTAGAGAGAGAG -3'
(R):5'- GTCTGACCGCAACCTGTCC -3'
|
Posted On |
2013-10-16 |