Incidental Mutation 'R1466:Tsc2'
ID |
166100 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tsc2
|
Ensembl Gene |
ENSMUSG00000002496 |
Gene Name |
TSC complex subunit 2 |
Synonyms |
tuberin, Nafld, tuberous sclerosis 2 |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1466 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
24814790-24851604 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 24827947 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 839
(M839K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000154338
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097373]
[ENSMUST00000226284]
[ENSMUST00000226398]
[ENSMUST00000227745]
[ENSMUST00000228412]
[ENSMUST00000227607]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000097373
AA Change: M839K
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000094986 Gene: ENSMUSG00000002496 AA Change: M839K
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 damaging
Transcript: ENSMUST00000226284
AA Change: M839K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226309
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000226398
AA Change: M839K
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226428
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000227745
AA Change: M839K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000228412
AA Change: M839K
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000227607
AA Change: M780K
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227330
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227754
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227543
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226985
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228729
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228220
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000227658
|
Coding Region Coverage |
- 1x: 99.4%
- 3x: 97.9%
- 10x: 90.8%
- 20x: 71.5%
|
Validation Efficiency |
|
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: 108 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd15 |
C |
T |
11: 77,406,236 (GRCm39) |
A71V |
probably damaging |
Het |
Adamts12 |
T |
C |
15: 11,311,445 (GRCm39) |
F1234S |
probably benign |
Het |
Ahnak |
A |
G |
19: 8,993,239 (GRCm39) |
D4841G |
probably damaging |
Het |
Akap13 |
T |
C |
7: 75,378,797 (GRCm39) |
S2095P |
possibly damaging |
Het |
Ampd2 |
T |
C |
3: 107,987,653 (GRCm39) |
|
probably null |
Het |
Arhgef17 |
G |
T |
7: 100,578,866 (GRCm39) |
P694Q |
possibly damaging |
Het |
Arrdc1 |
T |
C |
2: 24,815,807 (GRCm39) |
I398V |
probably benign |
Het |
Ash1l |
T |
C |
3: 88,959,372 (GRCm39) |
Y2250H |
probably damaging |
Het |
Aspg |
A |
G |
12: 112,088,286 (GRCm39) |
N385D |
probably benign |
Het |
Atxn3 |
G |
A |
12: 101,892,758 (GRCm39) |
R319C |
possibly damaging |
Het |
Brca2 |
G |
A |
5: 150,475,723 (GRCm39) |
A2478T |
probably damaging |
Het |
C1s1 |
C |
T |
6: 124,508,090 (GRCm39) |
C633Y |
probably damaging |
Het |
C8g |
C |
T |
2: 25,390,228 (GRCm39) |
A6T |
probably benign |
Het |
Cbl |
A |
T |
9: 44,065,541 (GRCm39) |
V706E |
probably benign |
Het |
Ccdc121rt3 |
C |
T |
5: 112,502,630 (GRCm39) |
G358D |
probably benign |
Het |
Cfhr1 |
C |
T |
1: 139,485,312 (GRCm39) |
E45K |
probably benign |
Het |
Chd7 |
G |
A |
4: 8,840,561 (GRCm39) |
|
probably null |
Het |
Chek1 |
G |
T |
9: 36,637,153 (GRCm39) |
A2E |
probably damaging |
Het |
Cntnap1 |
C |
A |
11: 101,071,186 (GRCm39) |
F366L |
probably damaging |
Het |
Corin |
C |
T |
5: 72,460,133 (GRCm39) |
|
probably null |
Het |
Crb2 |
T |
C |
2: 37,673,400 (GRCm39) |
Y99H |
probably damaging |
Het |
Ctdspl2 |
G |
A |
2: 121,834,410 (GRCm39) |
R332K |
probably benign |
Het |
Cym |
G |
A |
3: 107,120,774 (GRCm39) |
T277I |
probably damaging |
Het |
Cyp2d11 |
C |
T |
15: 82,275,936 (GRCm39) |
C215Y |
probably benign |
Het |
Dido1 |
G |
A |
2: 180,304,121 (GRCm39) |
P1261L |
probably damaging |
Het |
Dnah10 |
T |
A |
5: 124,840,160 (GRCm39) |
Y1265N |
probably benign |
Het |
Dtx3l |
G |
A |
16: 35,753,098 (GRCm39) |
L503F |
probably damaging |
Het |
Efhb |
A |
G |
17: 53,744,206 (GRCm39) |
F462L |
probably damaging |
Het |
Enpep |
T |
A |
3: 129,113,097 (GRCm39) |
T203S |
probably damaging |
Het |
Fat3 |
A |
C |
9: 16,286,778 (GRCm39) |
V915G |
probably damaging |
Het |
Fbln7 |
A |
G |
2: 128,719,349 (GRCm39) |
T49A |
probably benign |
Het |
Fcho1 |
C |
T |
8: 72,165,204 (GRCm39) |
A418T |
probably benign |
Het |
Fgf14 |
T |
A |
14: 124,913,951 (GRCm39) |
K60M |
probably benign |
Het |
Galnt4 |
A |
G |
10: 98,944,571 (GRCm39) |
R99G |
probably benign |
Het |
Gimap4 |
C |
A |
6: 48,668,216 (GRCm39) |
Q196K |
probably benign |
Het |
Glcci1 |
C |
T |
6: 8,537,964 (GRCm39) |
T6I |
probably damaging |
Het |
Gm10110 |
A |
T |
14: 90,135,511 (GRCm39) |
|
noncoding transcript |
Het |
Gm4884 |
A |
G |
7: 40,692,552 (GRCm39) |
K174E |
probably damaging |
Het |
Grip2 |
A |
T |
6: 91,765,424 (GRCm39) |
D19E |
probably damaging |
Het |
Grk4 |
T |
C |
5: 34,852,094 (GRCm39) |
S113P |
probably benign |
Het |
Hectd3 |
G |
A |
4: 116,853,763 (GRCm39) |
E220K |
probably damaging |
Het |
Helz2 |
G |
A |
2: 180,878,090 (GRCm39) |
P903S |
probably damaging |
Het |
Hydin |
T |
A |
8: 111,259,585 (GRCm39) |
V2519E |
possibly damaging |
Het |
Ints11 |
G |
A |
4: 155,972,567 (GRCm39) |
|
probably null |
Het |
Kif1a |
A |
G |
1: 92,982,651 (GRCm39) |
W718R |
possibly damaging |
Het |
Kif1b |
A |
T |
4: 149,307,709 (GRCm39) |
Y839N |
probably damaging |
Het |
Kif20b |
T |
A |
19: 34,927,999 (GRCm39) |
V1047D |
probably benign |
Het |
Klhl23 |
T |
C |
2: 69,664,232 (GRCm39) |
I527T |
probably damaging |
Het |
Klra10 |
T |
A |
6: 130,256,278 (GRCm39) |
R125S |
probably damaging |
Het |
Klra10 |
T |
C |
6: 130,256,394 (GRCm39) |
N87D |
probably damaging |
Het |
Lars1 |
G |
A |
18: 42,343,115 (GRCm39) |
R1101C |
probably damaging |
Het |
Lcn4 |
G |
A |
2: 26,558,588 (GRCm39) |
P166L |
probably damaging |
Het |
Letmd1 |
T |
A |
15: 100,370,423 (GRCm39) |
|
probably null |
Het |
Map4k2 |
G |
T |
19: 6,391,947 (GRCm39) |
W87L |
probably damaging |
Het |
Mccc1 |
A |
G |
3: 36,028,435 (GRCm39) |
V457A |
probably benign |
Het |
Mdn1 |
T |
A |
4: 32,730,788 (GRCm39) |
S2886T |
probably benign |
Het |
Mroh2b |
G |
T |
15: 4,955,166 (GRCm39) |
D720Y |
probably damaging |
Het |
Mrpl24 |
T |
A |
3: 87,829,235 (GRCm39) |
Y21* |
probably null |
Het |
Mrps35 |
C |
T |
6: 146,957,482 (GRCm39) |
T169M |
probably damaging |
Het |
Mtcl1 |
T |
A |
17: 66,687,430 (GRCm39) |
D492V |
probably damaging |
Het |
Muc2 |
A |
G |
7: 141,302,711 (GRCm39) |
Y457C |
probably damaging |
Het |
Muc4 |
G |
A |
16: 32,574,886 (GRCm39) |
G1157D |
probably benign |
Het |
Myg1 |
T |
A |
15: 102,245,825 (GRCm39) |
L275Q |
probably damaging |
Het |
Naga |
T |
A |
15: 82,218,989 (GRCm39) |
M237L |
probably null |
Het |
Oc90 |
T |
A |
15: 65,769,569 (GRCm39) |
Y96F |
probably damaging |
Het |
Or12d13 |
A |
T |
17: 37,647,847 (GRCm39) |
L92H |
probably benign |
Het |
Or13a18 |
A |
G |
7: 140,190,882 (GRCm39) |
I268V |
probably benign |
Het |
Or4a80 |
C |
T |
2: 89,582,611 (GRCm39) |
C187Y |
probably damaging |
Het |
Or5m11b |
T |
A |
2: 85,806,339 (GRCm39) |
F251I |
probably damaging |
Het |
Or6ae1 |
A |
G |
7: 139,742,116 (GRCm39) |
V249A |
probably damaging |
Het |
Orc4 |
A |
T |
2: 48,799,506 (GRCm39) |
C324S |
possibly damaging |
Het |
Pcdh10 |
T |
G |
3: 45,334,409 (GRCm39) |
L241R |
probably damaging |
Het |
Pdzrn4 |
T |
C |
15: 92,668,418 (GRCm39) |
S857P |
probably benign |
Het |
Plec |
C |
T |
15: 76,070,108 (GRCm39) |
E1000K |
possibly damaging |
Het |
Plvap |
A |
T |
8: 71,961,125 (GRCm39) |
V149D |
probably benign |
Het |
Ppef1 |
C |
A |
X: 159,408,670 (GRCm39) |
|
probably null |
Het |
Prkaa1 |
C |
A |
15: 5,208,279 (GRCm39) |
P507T |
probably benign |
Het |
Ptch1 |
A |
G |
13: 63,672,783 (GRCm39) |
Y804H |
probably benign |
Het |
R3hdm2 |
A |
G |
10: 127,312,559 (GRCm39) |
I434V |
probably benign |
Het |
Rfx5 |
T |
A |
3: 94,863,614 (GRCm39) |
Y88N |
probably damaging |
Het |
Rnase2b |
A |
T |
14: 51,400,296 (GRCm39) |
K126* |
probably null |
Het |
Rpl3l |
A |
G |
17: 24,949,845 (GRCm39) |
I15V |
probably benign |
Het |
Saal1 |
G |
T |
7: 46,351,969 (GRCm39) |
|
probably null |
Het |
Sbpl |
A |
C |
17: 24,172,228 (GRCm39) |
D230E |
unknown |
Het |
Scn10a |
T |
C |
9: 119,495,556 (GRCm39) |
Y322C |
probably damaging |
Het |
Sec16a |
A |
T |
2: 26,321,169 (GRCm39) |
Y1308N |
probably damaging |
Het |
Sis |
A |
T |
3: 72,839,393 (GRCm39) |
D824E |
possibly damaging |
Het |
Slc25a36 |
A |
G |
9: 96,962,408 (GRCm39) |
F194L |
probably damaging |
Het |
Slc27a4 |
T |
A |
2: 29,701,202 (GRCm39) |
V331E |
probably damaging |
Het |
Slc7a11 |
G |
T |
3: 50,335,522 (GRCm39) |
|
probably null |
Het |
Slco4c1 |
A |
T |
1: 96,768,897 (GRCm39) |
S322T |
probably damaging |
Het |
Smarcc2 |
A |
T |
10: 128,310,114 (GRCm39) |
T376S |
probably damaging |
Het |
Srebf1 |
C |
T |
11: 60,091,528 (GRCm39) |
R999H |
probably benign |
Het |
St3gal3 |
A |
C |
4: 117,964,859 (GRCm39) |
M1R |
probably null |
Het |
Syp |
A |
T |
X: 7,514,944 (GRCm39) |
|
probably benign |
Het |
Tas1r2 |
A |
G |
4: 139,396,722 (GRCm39) |
D687G |
probably damaging |
Het |
Tekt4 |
A |
T |
17: 25,691,048 (GRCm39) |
Q118L |
probably benign |
Het |
Thoc2l |
T |
A |
5: 104,666,123 (GRCm39) |
I215N |
probably damaging |
Het |
Tph2 |
T |
C |
10: 114,915,600 (GRCm39) |
N480S |
probably benign |
Het |
Ttc22 |
T |
C |
4: 106,479,977 (GRCm39) |
F77S |
probably damaging |
Het |
Uaca |
C |
T |
9: 60,761,603 (GRCm39) |
A205V |
possibly damaging |
Het |
Uhmk1 |
A |
T |
1: 170,036,222 (GRCm39) |
|
probably null |
Het |
Usp17lc |
A |
G |
7: 103,068,148 (GRCm39) |
H481R |
possibly damaging |
Het |
Vwa3a |
A |
G |
7: 120,367,388 (GRCm39) |
Y181C |
probably damaging |
Het |
Wfikkn2 |
G |
A |
11: 94,129,721 (GRCm39) |
T140I |
probably damaging |
Het |
Zfp704 |
G |
T |
3: 9,512,408 (GRCm39) |
T288N |
possibly damaging |
Het |
Zfp93 |
T |
C |
7: 23,975,521 (GRCm39) |
V502A |
probably damaging |
Het |
Zzef1 |
C |
T |
11: 72,815,505 (GRCm39) |
P2942S |
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 |
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'- GCAGGCATCAGAAGTGTTAAGACCC -3'
(R):5'- TGGTATAACAGAGCAGCTTGGCCC -3'
Sequencing Primer
(F):5'- GAAGTGTTAAGACCCATGTTCTCC -3'
(R):5'- AGGCAGACCCAGTGTATCTTG -3'
|
Posted On |
2014-03-28 |