Incidental Mutation 'R4731:Tsc2'
ID |
358894 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tsc2
|
Ensembl Gene |
ENSMUSG00000002496 |
Gene Name |
TSC complex subunit 2 |
Synonyms |
tuberin, Nafld, tuberous sclerosis 2 |
MMRRC Submission |
042021-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4731 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
24814790-24851604 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 24822249 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Phenylalanine
at position 1141
(V1141F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000154338
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097373]
[ENSMUST00000226284]
[ENSMUST00000226398]
[ENSMUST00000227607]
[ENSMUST00000228412]
[ENSMUST00000227745]
[ENSMUST00000227804]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000097373
AA Change: V1098F
PolyPhen 2
Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000094986 Gene: ENSMUSG00000002496 AA Change: V1098F
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: V1141F
PolyPhen 2
Score 0.211 (Sensitivity: 0.92; Specificity: 0.88)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226309
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000226398
AA Change: V1098F
PolyPhen 2
Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226428
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000227607
AA Change: V1039F
PolyPhen 2
Score 0.258 (Sensitivity: 0.91; Specificity: 0.88)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228412
AA Change: V1097F
PolyPhen 2
Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000227745
AA Change: V1141F
PolyPhen 2
Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226985
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226691
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227543
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228729
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227330
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000227804
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000227658
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
Validation Efficiency |
99% (117/118) |
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: 115 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actmap |
T |
A |
7: 26,900,468 (GRCm39) |
M149K |
probably damaging |
Het |
Adamts12 |
A |
T |
15: 11,270,748 (GRCm39) |
S668C |
probably damaging |
Het |
Adcy8 |
A |
G |
15: 64,626,711 (GRCm39) |
V709A |
possibly damaging |
Het |
Aim2 |
T |
A |
1: 173,291,442 (GRCm39) |
D282E |
possibly damaging |
Het |
Akap9 |
T |
A |
5: 4,012,266 (GRCm39) |
S990T |
possibly damaging |
Het |
Aloxe3 |
A |
T |
11: 69,019,480 (GRCm39) |
D131V |
probably null |
Het |
Ankrd28 |
A |
C |
14: 31,477,698 (GRCm39) |
C115G |
probably benign |
Het |
Anxa2 |
A |
T |
9: 69,393,812 (GRCm39) |
M217L |
probably benign |
Het |
Asah2 |
T |
C |
19: 31,972,758 (GRCm39) |
N659S |
probably benign |
Het |
Btaf1 |
A |
G |
19: 36,958,478 (GRCm39) |
D665G |
probably benign |
Het |
Cdc42bpg |
T |
A |
19: 6,361,221 (GRCm39) |
V282E |
probably damaging |
Het |
Cdh15 |
G |
A |
8: 123,588,763 (GRCm39) |
R279Q |
probably damaging |
Het |
Cdipt |
T |
A |
7: 126,577,530 (GRCm39) |
L92H |
probably damaging |
Het |
Cep104 |
T |
A |
4: 154,072,883 (GRCm39) |
D380E |
probably damaging |
Het |
Cfap74 |
T |
A |
4: 155,548,059 (GRCm39) |
|
probably benign |
Het |
Chd1 |
A |
T |
17: 17,598,079 (GRCm39) |
E55D |
probably benign |
Het |
Cldnd2 |
T |
A |
7: 43,091,613 (GRCm39) |
C65S |
possibly damaging |
Het |
Clec9a |
G |
T |
6: 129,393,299 (GRCm39) |
A108S |
probably benign |
Het |
Cog7 |
T |
C |
7: 121,563,467 (GRCm39) |
D215G |
probably benign |
Het |
Col9a3 |
G |
A |
2: 180,252,474 (GRCm39) |
E373K |
probably damaging |
Het |
Deptor |
C |
A |
15: 55,044,406 (GRCm39) |
H191N |
probably benign |
Het |
Dgkz |
A |
T |
2: 91,768,684 (GRCm39) |
I699N |
probably damaging |
Het |
Dnah7c |
T |
A |
1: 46,809,333 (GRCm39) |
N3550K |
probably damaging |
Het |
Dnah8 |
A |
G |
17: 30,994,035 (GRCm39) |
K3384R |
probably null |
Het |
Dnajc13 |
CT |
C |
9: 104,064,004 (GRCm39) |
|
probably benign |
Het |
Dnhd1 |
C |
A |
7: 105,323,056 (GRCm39) |
N521K |
probably benign |
Het |
Efhb |
G |
A |
17: 53,733,272 (GRCm39) |
T533I |
probably damaging |
Het |
Ercc4 |
A |
T |
16: 12,965,471 (GRCm39) |
H701L |
probably damaging |
Het |
Ern1 |
A |
T |
11: 106,325,676 (GRCm39) |
|
probably benign |
Het |
Etfb |
T |
C |
7: 43,093,624 (GRCm39) |
V17A |
probably damaging |
Het |
Evc |
T |
A |
5: 37,481,141 (GRCm39) |
M235L |
probably benign |
Het |
Fbxw22 |
T |
C |
9: 109,207,937 (GRCm39) |
I445V |
probably benign |
Het |
Fmnl2 |
A |
G |
2: 53,007,081 (GRCm39) |
T764A |
possibly damaging |
Het |
Fto |
T |
A |
8: 92,136,342 (GRCm39) |
D205E |
probably damaging |
Het |
Galntl6 |
G |
A |
8: 58,880,847 (GRCm39) |
P147L |
probably damaging |
Het |
Gm6871 |
T |
C |
7: 41,196,173 (GRCm39) |
I39V |
probably benign |
Het |
Gpr83 |
A |
G |
9: 14,777,470 (GRCm39) |
|
probably benign |
Het |
Gucy1a2 |
A |
T |
9: 3,759,424 (GRCm39) |
H410L |
probably benign |
Het |
Helb |
T |
C |
10: 119,930,193 (GRCm39) |
|
probably null |
Het |
Ifi214 |
T |
C |
1: 173,354,157 (GRCm39) |
Q171R |
probably benign |
Het |
Ifit1bl1 |
T |
C |
19: 34,571,721 (GRCm39) |
I245M |
probably benign |
Het |
Igdcc3 |
A |
G |
9: 65,089,279 (GRCm39) |
T492A |
probably damaging |
Het |
Ighv13-1 |
T |
C |
12: 114,231,252 (GRCm39) |
|
probably benign |
Het |
Igkv4-50 |
T |
C |
6: 69,677,984 (GRCm39) |
K40R |
probably benign |
Het |
Igkv8-18 |
T |
A |
6: 70,333,280 (GRCm39) |
I74N |
probably damaging |
Het |
Iho1 |
A |
G |
9: 108,282,584 (GRCm39) |
V368A |
probably benign |
Het |
Kbtbd7 |
T |
C |
14: 79,666,240 (GRCm39) |
*691Q |
probably null |
Het |
Khnyn |
T |
A |
14: 56,123,946 (GRCm39) |
|
probably null |
Het |
Kif26a |
G |
A |
12: 112,142,007 (GRCm39) |
A754T |
probably benign |
Het |
Llgl1 |
T |
A |
11: 60,597,051 (GRCm39) |
L194* |
probably null |
Het |
Map3k12 |
G |
T |
15: 102,409,717 (GRCm39) |
T686N |
probably benign |
Het |
Myo18a |
C |
A |
11: 77,720,585 (GRCm39) |
P741Q |
probably benign |
Het |
Ncaph2 |
G |
A |
15: 89,240,030 (GRCm39) |
|
probably benign |
Het |
Nfkb2 |
A |
G |
19: 46,297,403 (GRCm39) |
Q406R |
possibly damaging |
Het |
Or10g9b |
A |
T |
9: 39,917,564 (GRCm39) |
I227N |
probably damaging |
Het |
Or11g2 |
T |
A |
14: 50,856,026 (GRCm39) |
C116S |
probably benign |
Het |
Or1ad6 |
G |
A |
11: 50,860,093 (GRCm39) |
V83M |
possibly damaging |
Het |
Or2i1 |
T |
C |
17: 37,507,915 (GRCm39) |
T315A |
probably damaging |
Het |
Or2n1e |
T |
A |
17: 38,586,438 (GRCm39) |
Y259N |
probably damaging |
Het |
Or8b12 |
A |
T |
9: 37,657,831 (GRCm39) |
T134S |
probably benign |
Het |
Ostm1 |
C |
T |
10: 42,554,975 (GRCm39) |
|
probably benign |
Het |
Pabpc1 |
A |
T |
15: 36,599,528 (GRCm39) |
V389E |
probably benign |
Het |
Pank4 |
A |
T |
4: 155,055,847 (GRCm39) |
M291L |
probably benign |
Het |
Pex6 |
A |
G |
17: 47,033,214 (GRCm39) |
D579G |
probably benign |
Het |
Pex6 |
A |
G |
17: 47,035,633 (GRCm39) |
|
probably null |
Het |
Phc2 |
C |
T |
4: 128,601,764 (GRCm39) |
T73M |
probably damaging |
Het |
Pkp4 |
G |
A |
2: 59,165,276 (GRCm39) |
|
probably null |
Het |
Plekhg1 |
T |
A |
10: 3,907,506 (GRCm39) |
S808T |
probably benign |
Het |
Plk5 |
A |
T |
10: 80,194,631 (GRCm39) |
H118L |
probably damaging |
Het |
Pnlip |
T |
C |
19: 58,664,919 (GRCm39) |
I249T |
probably benign |
Het |
Ptov1 |
T |
C |
7: 44,516,533 (GRCm39) |
D134G |
probably benign |
Het |
Ptprb |
T |
C |
10: 116,155,238 (GRCm39) |
V664A |
probably benign |
Het |
Ptprz1 |
T |
A |
6: 23,002,609 (GRCm39) |
S1566R |
probably benign |
Het |
Pum1 |
T |
C |
4: 130,445,504 (GRCm39) |
S158P |
probably benign |
Het |
Rae1 |
G |
T |
2: 172,857,185 (GRCm39) |
|
probably benign |
Het |
Ros1 |
A |
C |
10: 52,018,325 (GRCm39) |
W778G |
probably damaging |
Het |
Ryr2 |
A |
T |
13: 11,592,795 (GRCm39) |
M4653K |
possibly damaging |
Het |
Sacm1l |
G |
A |
9: 123,419,895 (GRCm39) |
V553I |
probably benign |
Het |
Samd4b |
G |
A |
7: 28,106,088 (GRCm39) |
R377W |
probably benign |
Het |
Selenoo |
A |
G |
15: 88,983,531 (GRCm39) |
Q524R |
probably benign |
Het |
Slc30a3 |
T |
C |
5: 31,250,638 (GRCm39) |
S22G |
probably benign |
Het |
Slc35g2 |
A |
C |
9: 100,434,555 (GRCm39) |
V372G |
probably benign |
Het |
Slc5a8 |
T |
C |
10: 88,761,649 (GRCm39) |
|
probably null |
Het |
Slc7a7 |
T |
C |
14: 54,646,190 (GRCm39) |
Y91C |
probably damaging |
Het |
Slc7a9 |
T |
A |
7: 35,152,988 (GRCm39) |
Y135* |
probably null |
Het |
Slfn1 |
A |
T |
11: 83,012,661 (GRCm39) |
E259V |
probably damaging |
Het |
Slmap |
T |
C |
14: 26,189,690 (GRCm39) |
N156S |
probably damaging |
Het |
Smim29 |
A |
G |
17: 27,784,244 (GRCm39) |
|
probably benign |
Het |
Sorbs1 |
T |
A |
19: 40,303,133 (GRCm39) |
R485S |
probably benign |
Het |
Sptbn2 |
T |
A |
19: 4,792,508 (GRCm39) |
F1388I |
probably damaging |
Het |
Stac2 |
C |
T |
11: 97,930,521 (GRCm39) |
G349E |
probably damaging |
Het |
Tigd2 |
T |
A |
6: 59,188,400 (GRCm39) |
H422Q |
probably benign |
Het |
Tle1 |
T |
C |
4: 72,043,256 (GRCm39) |
N538D |
possibly damaging |
Het |
Tmtc1 |
A |
C |
6: 148,186,478 (GRCm39) |
|
probably null |
Het |
Tns3 |
C |
T |
11: 8,400,986 (GRCm39) |
R1104H |
probably benign |
Het |
Tom1l2 |
C |
G |
11: 60,161,259 (GRCm39) |
R84P |
probably damaging |
Het |
Trank1 |
T |
C |
9: 111,219,478 (GRCm39) |
F2072L |
probably damaging |
Het |
Trim6 |
T |
C |
7: 103,881,855 (GRCm39) |
Y369H |
probably damaging |
Het |
Trpc7 |
A |
G |
13: 56,952,366 (GRCm39) |
S541P |
probably damaging |
Het |
Trpv4 |
T |
C |
5: 114,760,814 (GRCm39) |
D732G |
possibly damaging |
Het |
Tspoap1 |
T |
A |
11: 87,656,473 (GRCm39) |
V257E |
probably benign |
Het |
Ttn |
A |
T |
2: 76,773,355 (GRCm39) |
M2395K |
unknown |
Het |
Ubd |
A |
C |
17: 37,506,593 (GRCm39) |
T160P |
probably benign |
Het |
Ubr7 |
A |
G |
12: 102,735,485 (GRCm39) |
T315A |
probably benign |
Het |
Ugt2b36 |
G |
T |
5: 87,229,397 (GRCm39) |
Y156* |
probably null |
Het |
Ulk4 |
G |
A |
9: 121,092,704 (GRCm39) |
R178* |
probably null |
Het |
Urod |
G |
A |
4: 116,848,870 (GRCm39) |
A92V |
possibly damaging |
Het |
Utp20 |
T |
C |
10: 88,590,382 (GRCm39) |
D2364G |
possibly damaging |
Het |
Vmn1r87 |
A |
T |
7: 12,866,254 (GRCm39) |
M11K |
possibly damaging |
Het |
Vstm4 |
A |
G |
14: 32,639,859 (GRCm39) |
K96E |
possibly damaging |
Het |
Wwp1 |
T |
C |
4: 19,661,990 (GRCm39) |
D172G |
probably benign |
Het |
Zfhx3 |
A |
G |
8: 109,682,716 (GRCm39) |
Q3385R |
unknown |
Het |
Zfp229 |
C |
T |
17: 21,964,267 (GRCm39) |
H166Y |
possibly damaging |
Het |
Zfp738 |
A |
T |
13: 67,818,033 (GRCm39) |
C653S |
probably damaging |
Het |
Zp2 |
C |
A |
7: 119,737,343 (GRCm39) |
V282L |
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 |
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 |
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'- TATGCTCTGAAGACCACTGGG -3'
(R):5'- CCACTCTTGAAGGGCCAAAC -3'
Sequencing Primer
(F):5'- GTCTGCGGACTAAGATTTCTGCC -3'
(R):5'- GCCAAACCCAGGGCCTG -3'
|
Posted On |
2015-11-11 |