Incidental Mutation 'R1440:Tsc2'
ID |
160971 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tsc2
|
Ensembl Gene |
ENSMUSG00000002496 |
Gene Name |
TSC complex subunit 2 |
Synonyms |
tuberin, Nafld, tuberous sclerosis 2 |
MMRRC Submission |
039495-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1440 (G1)
|
Quality Score |
151 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
24814790-24851604 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 24833366 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 686
(Y686C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000154338
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097373]
[ENSMUST00000226284]
[ENSMUST00000226398]
[ENSMUST00000227607]
[ENSMUST00000227745]
[ENSMUST00000228412]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000097373
AA Change: Y686C
PolyPhen 2
Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000094986 Gene: ENSMUSG00000002496 AA Change: Y686C
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: ENSMUST00000226242
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000226284
AA Change: Y686C
PolyPhen 2
Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000226398
AA Change: Y686C
PolyPhen 2
Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000227607
AA Change: Y627C
PolyPhen 2
Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000227745
AA Change: Y686C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000228412
AA Change: Y686C
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228220
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227754
|
Meta Mutation Damage Score |
0.4547 |
Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.7%
- 10x: 94.0%
- 20x: 84.7%
|
Validation Efficiency |
95% (94/99) |
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: 91 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930447C04Rik |
T |
G |
12: 72,928,195 (GRCm39) |
N512T |
possibly damaging |
Het |
Aadacl2 |
A |
T |
3: 59,932,313 (GRCm39) |
H276L |
probably damaging |
Het |
Adam12 |
G |
A |
7: 133,533,543 (GRCm39) |
T445M |
probably benign |
Het |
Ash2l |
A |
T |
8: 26,317,406 (GRCm39) |
F290L |
probably benign |
Het |
Asxl3 |
C |
T |
18: 22,658,281 (GRCm39) |
P2097L |
probably benign |
Het |
Atmin |
A |
G |
8: 117,684,115 (GRCm39) |
I592V |
probably damaging |
Het |
Atxn2 |
T |
C |
5: 121,941,145 (GRCm39) |
|
probably null |
Het |
BC004004 |
T |
C |
17: 29,515,665 (GRCm39) |
|
probably null |
Het |
Cacna1e |
T |
C |
1: 154,437,552 (GRCm39) |
N328S |
possibly damaging |
Het |
Cacna2d1 |
A |
T |
5: 16,560,493 (GRCm39) |
K765I |
probably damaging |
Het |
Cc2d1a |
A |
G |
8: 84,860,604 (GRCm39) |
|
probably null |
Het |
Ccdc28b |
A |
G |
4: 129,514,408 (GRCm39) |
V198A |
probably benign |
Het |
Ces1b |
G |
T |
8: 93,794,736 (GRCm39) |
R288S |
probably damaging |
Het |
Cfap100 |
T |
G |
6: 90,389,166 (GRCm39) |
T198P |
probably benign |
Het |
Clint1 |
T |
C |
11: 45,781,610 (GRCm39) |
S227P |
probably damaging |
Het |
Cntn5 |
C |
A |
9: 10,145,344 (GRCm39) |
C122F |
probably damaging |
Het |
Col3a1 |
A |
G |
1: 45,382,472 (GRCm39) |
|
probably null |
Het |
Cyp4a10 |
A |
C |
4: 115,386,646 (GRCm39) |
D431A |
probably damaging |
Het |
Cyp4f16 |
CTATG |
CTATGTATG |
17: 32,769,708 (GRCm39) |
|
probably null |
Het |
Dlc1 |
A |
T |
8: 37,060,617 (GRCm39) |
|
probably benign |
Het |
Dlgap2 |
T |
C |
8: 14,777,060 (GRCm39) |
S102P |
probably benign |
Het |
Dnah7b |
G |
A |
1: 46,117,753 (GRCm39) |
|
probably benign |
Het |
Dock10 |
A |
C |
1: 80,526,853 (GRCm39) |
S1124A |
probably benign |
Het |
Dscam |
C |
T |
16: 96,621,151 (GRCm39) |
R519H |
probably damaging |
Het |
Efcab3 |
A |
T |
11: 104,999,581 (GRCm39) |
|
probably benign |
Het |
Evi2a |
G |
T |
11: 79,418,096 (GRCm39) |
N171K |
probably damaging |
Het |
Fbxl15 |
T |
C |
19: 46,318,684 (GRCm39) |
L286P |
probably damaging |
Het |
Fpr1 |
T |
A |
17: 18,097,525 (GRCm39) |
I155F |
probably benign |
Het |
Gcat |
C |
T |
15: 78,918,194 (GRCm39) |
A84V |
probably null |
Het |
Gls |
A |
G |
1: 52,230,293 (GRCm39) |
F473L |
possibly damaging |
Het |
Gnat1 |
T |
C |
9: 107,554,164 (GRCm39) |
D169G |
probably damaging |
Het |
Grm3 |
A |
C |
5: 9,639,958 (GRCm39) |
M29R |
probably benign |
Het |
Herc1 |
A |
T |
9: 66,375,085 (GRCm39) |
D3303V |
probably damaging |
Het |
Ibsp |
G |
A |
5: 104,458,405 (GRCm39) |
G314D |
unknown |
Het |
Irag2 |
C |
T |
6: 145,120,237 (GRCm39) |
T484M |
possibly damaging |
Het |
Lgr6 |
C |
A |
1: 134,915,210 (GRCm39) |
A513S |
probably damaging |
Het |
Lrriq4 |
T |
A |
3: 30,704,910 (GRCm39) |
C313S |
probably damaging |
Het |
Marchf10 |
G |
T |
11: 105,281,409 (GRCm39) |
T292K |
probably damaging |
Het |
Mcoln2 |
C |
A |
3: 145,896,137 (GRCm39) |
Y6* |
probably null |
Het |
Mup4 |
A |
G |
4: 59,958,076 (GRCm39) |
I164T |
probably damaging |
Het |
Myo1b |
T |
C |
1: 51,817,717 (GRCm39) |
|
probably benign |
Het |
Ncam1 |
A |
G |
9: 49,456,100 (GRCm39) |
I506T |
probably damaging |
Het |
Notch1 |
A |
T |
2: 26,370,976 (GRCm39) |
|
probably benign |
Het |
Nr4a3 |
A |
T |
4: 48,051,777 (GRCm39) |
Q177L |
probably benign |
Het |
Nsun4 |
A |
G |
4: 115,910,147 (GRCm39) |
S138P |
possibly damaging |
Het |
Or1a1 |
A |
G |
11: 74,086,505 (GRCm39) |
M59V |
probably damaging |
Het |
Or2b6 |
G |
T |
13: 21,823,560 (GRCm39) |
N44K |
probably benign |
Het |
Or2d36 |
A |
T |
7: 106,747,405 (GRCm39) |
N294I |
probably damaging |
Het |
Or4k5 |
T |
C |
14: 50,385,815 (GRCm39) |
N172S |
probably damaging |
Het |
Pagr1a |
A |
T |
7: 126,615,469 (GRCm39) |
|
probably benign |
Het |
Pcdhb2 |
A |
T |
18: 37,429,343 (GRCm39) |
I82L |
probably benign |
Het |
Pds5b |
A |
T |
5: 150,677,882 (GRCm39) |
N500I |
probably damaging |
Het |
Pik3r6 |
A |
T |
11: 68,422,271 (GRCm39) |
E223D |
possibly damaging |
Het |
Pkhd1l1 |
A |
T |
15: 44,404,384 (GRCm39) |
|
probably benign |
Het |
Prex1 |
T |
C |
2: 166,422,383 (GRCm39) |
D1204G |
probably damaging |
Het |
Prickle1 |
C |
T |
15: 93,402,955 (GRCm39) |
E244K |
possibly damaging |
Het |
Ptprd |
A |
T |
4: 76,002,789 (GRCm39) |
V211E |
probably damaging |
Het |
Rad51d |
G |
A |
11: 82,781,179 (GRCm39) |
R23* |
probably null |
Het |
Rapgef6 |
G |
A |
11: 54,517,534 (GRCm39) |
G262R |
probably damaging |
Het |
Reln |
A |
G |
5: 22,333,600 (GRCm39) |
|
probably benign |
Het |
Rev1 |
T |
C |
1: 38,127,286 (GRCm39) |
T325A |
probably damaging |
Het |
Rnd3 |
T |
A |
2: 51,022,518 (GRCm39) |
I175L |
probably benign |
Het |
Rp1 |
C |
A |
1: 4,417,619 (GRCm39) |
L1164F |
probably damaging |
Het |
S100a7a |
T |
C |
3: 90,562,942 (GRCm39) |
V43A |
probably benign |
Het |
Scaper |
A |
C |
9: 55,510,202 (GRCm39) |
Y1104* |
probably null |
Het |
Scn2a |
T |
A |
2: 65,594,938 (GRCm39) |
V1929D |
probably benign |
Het |
Scn3a |
T |
C |
2: 65,359,785 (GRCm39) |
N141S |
possibly damaging |
Het |
Slc12a7 |
T |
G |
13: 73,949,127 (GRCm39) |
L718R |
probably damaging |
Het |
Slc15a2 |
T |
C |
16: 36,605,005 (GRCm39) |
|
probably benign |
Het |
Slc35b3 |
G |
A |
13: 39,138,110 (GRCm39) |
Q100* |
probably null |
Het |
Slc9a5 |
T |
A |
8: 106,081,785 (GRCm39) |
V170E |
possibly damaging |
Het |
Snx5 |
T |
G |
2: 144,096,731 (GRCm39) |
K278T |
possibly damaging |
Het |
Sorbs2 |
T |
C |
8: 46,243,000 (GRCm39) |
|
probably benign |
Het |
Stab1 |
C |
T |
14: 30,873,647 (GRCm39) |
W1008* |
probably null |
Het |
Stab2 |
C |
T |
10: 86,697,231 (GRCm39) |
|
probably null |
Het |
Tacc3 |
A |
G |
5: 33,825,321 (GRCm39) |
E377G |
probably benign |
Het |
Tango6 |
T |
C |
8: 107,415,671 (GRCm39) |
L164P |
probably damaging |
Het |
Tbc1d12 |
T |
A |
19: 38,902,796 (GRCm39) |
S570T |
possibly damaging |
Het |
Thbs1 |
T |
C |
2: 117,944,836 (GRCm39) |
F217L |
probably damaging |
Het |
Tmbim6 |
T |
A |
15: 99,300,004 (GRCm39) |
V40E |
probably damaging |
Het |
Tmigd1 |
A |
T |
11: 76,800,986 (GRCm39) |
N158Y |
probably damaging |
Het |
Top3b |
C |
T |
16: 16,710,641 (GRCm39) |
R824* |
probably null |
Het |
Tram1l1 |
A |
T |
3: 124,115,580 (GRCm39) |
K247* |
probably null |
Het |
Tsga10 |
T |
C |
1: 37,858,680 (GRCm39) |
Q218R |
probably damaging |
Het |
Uba6 |
G |
T |
5: 86,288,282 (GRCm39) |
A439D |
probably damaging |
Het |
Ubn1 |
C |
A |
16: 4,895,158 (GRCm39) |
P735T |
probably damaging |
Het |
Usp40 |
A |
G |
1: 87,909,808 (GRCm39) |
S549P |
probably benign |
Het |
Utp20 |
T |
C |
10: 88,655,201 (GRCm39) |
T176A |
probably benign |
Het |
Utp4 |
T |
G |
8: 107,624,685 (GRCm39) |
|
probably benign |
Het |
Xpo5 |
C |
T |
17: 46,518,853 (GRCm39) |
|
probably benign |
Het |
Zfp979 |
A |
T |
4: 147,698,493 (GRCm39) |
I72K |
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 |
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 |
|
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'- TCAGACTCACCTGGTAGATGCTCC -3'
(R):5'- GTGAGATTCAGCCCTTACTGCCTC -3'
Sequencing Primer
(F):5'- CCTGGTAGATGCTCCTAAGACAG -3'
(R):5'- CCTACTCAGGGTTATTTCATAGGAG -3'
|
Posted On |
2014-03-14 |