Incidental Mutation 'R4817:Tsc2'
| ID |
369952 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tsc2
|
| Ensembl Gene |
ENSMUSG00000002496 |
| Gene Name |
TSC complex subunit 2 |
| Synonyms |
tuberin, Nafld, tuberous sclerosis 2 |
| MMRRC Submission |
042435-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4817 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
24814790-24851604 bp(-) (GRCm39) |
| Type of Mutation |
splice site (3239 bp from exon) |
| DNA Base Change (assembly) |
T to A
at 24815716 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153867
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035565]
[ENSMUST00000097373]
[ENSMUST00000226284]
[ENSMUST00000226398]
[ENSMUST00000228412]
[ENSMUST00000227804]
[ENSMUST00000227745]
[ENSMUST00000227058]
[ENSMUST00000227607]
[ENSMUST00000228581]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
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: N1698Y
PolyPhen 2
Score 0.833 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000094986
Gene: ENSMUSG00000002496
AA Change: N1698Y
| 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: N1741Y
PolyPhen 2
Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000226398
AA Change: N1698Y
PolyPhen 2
Score 0.833 (Sensitivity: 0.84; Specificity: 0.93)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226473
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226691
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000228412
AA Change: N1697Y
PolyPhen 2
Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000227804
AA Change: N193Y
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000227745
AA Change: N1764Y
PolyPhen 2
Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227432
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227094
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000227058
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227107
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227607
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228581
|
| Meta Mutation Damage Score |
0.1316 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 94.0%
|
| Validation Efficiency |
96% (108/112) |
| 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: 97 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp2 |
T |
A |
2: 91,033,963 (GRCm39) |
D44E |
probably damaging |
Het |
| Acp5 |
T |
C |
9: 22,038,379 (GRCm39) |
I307M |
probably benign |
Het |
| Ahsa1 |
A |
G |
12: 87,319,940 (GRCm39) |
D245G |
possibly damaging |
Het |
| Ankrd40 |
A |
G |
11: 94,230,459 (GRCm39) |
K316E |
probably benign |
Het |
| Apol9b |
G |
A |
15: 77,620,088 (GRCm39) |
E295K |
possibly damaging |
Het |
| Aqp4 |
C |
A |
18: 15,532,815 (GRCm39) |
G93C |
probably damaging |
Het |
| Arhgap21 |
A |
G |
2: 20,854,967 (GRCm39) |
V1465A |
probably benign |
Het |
| Arhgap5 |
C |
T |
12: 52,565,992 (GRCm39) |
P988S |
possibly damaging |
Het |
| Asxl3 |
A |
C |
18: 22,658,511 (GRCm39) |
K2174Q |
probably damaging |
Het |
| Brf1 |
A |
T |
12: 112,935,921 (GRCm39) |
I250N |
probably damaging |
Het |
| Calm1 |
A |
G |
12: 100,169,832 (GRCm39) |
|
probably null |
Het |
| Ccdc33 |
C |
T |
9: 57,974,818 (GRCm39) |
V352M |
probably damaging |
Het |
| Ccdc88a |
G |
T |
11: 29,410,907 (GRCm39) |
K464N |
probably benign |
Het |
| Cdadc1 |
AGACGGA |
AGA |
14: 59,806,440 (GRCm39) |
|
probably null |
Het |
| Cdc25b |
T |
A |
2: 131,035,223 (GRCm39) |
I327N |
probably damaging |
Het |
| Cenpf |
G |
A |
1: 189,414,566 (GRCm39) |
H184Y |
possibly damaging |
Het |
| Cimap1d |
G |
A |
10: 79,475,851 (GRCm39) |
P238S |
probably damaging |
Het |
| Col6a5 |
G |
A |
9: 105,811,497 (GRCm39) |
T674I |
unknown |
Het |
| Creg2 |
A |
T |
1: 39,662,358 (GRCm39) |
M258K |
probably damaging |
Het |
| Csf3r |
T |
A |
4: 125,931,449 (GRCm39) |
Y477* |
probably null |
Het |
| Cyp3a44 |
T |
A |
5: 145,740,565 (GRCm39) |
Y25F |
possibly damaging |
Het |
| Degs2 |
T |
A |
12: 108,655,325 (GRCm39) |
R283* |
probably null |
Het |
| Dido1 |
T |
C |
2: 180,303,209 (GRCm39) |
N1565S |
probably benign |
Het |
| Dnah6 |
A |
T |
6: 72,999,407 (GRCm39) |
M4008K |
probably benign |
Het |
| Dnmbp |
C |
A |
19: 43,838,411 (GRCm39) |
G1138V |
probably benign |
Het |
| Drosha |
A |
C |
15: 12,914,133 (GRCm39) |
H1136P |
probably damaging |
Het |
| Duox2 |
T |
G |
2: 122,126,996 (GRCm39) |
N173T |
probably damaging |
Het |
| Dync1li1 |
T |
G |
9: 114,534,162 (GRCm39) |
I87M |
probably benign |
Het |
| E2f8 |
A |
C |
7: 48,517,494 (GRCm39) |
S770A |
probably benign |
Het |
| Efemp1 |
A |
G |
11: 28,876,241 (GRCm39) |
T469A |
probably damaging |
Het |
| Eif3f |
A |
T |
7: 108,536,982 (GRCm39) |
T136S |
probably damaging |
Het |
| Enpp5 |
T |
C |
17: 44,391,871 (GRCm39) |
*46R |
probably null |
Het |
| Epb41l4b |
A |
G |
4: 57,103,428 (GRCm39) |
V136A |
probably damaging |
Het |
| Fam186a |
A |
C |
15: 99,831,419 (GRCm39) |
|
probably benign |
Het |
| Flt4 |
A |
G |
11: 49,516,242 (GRCm39) |
Y115C |
probably damaging |
Het |
| Gal |
T |
A |
19: 3,461,126 (GRCm39) |
|
probably null |
Het |
| Galnt3 |
C |
T |
2: 65,923,883 (GRCm39) |
V462I |
possibly damaging |
Het |
| Gas2l1 |
A |
G |
11: 5,011,429 (GRCm39) |
S467P |
possibly damaging |
Het |
| Gbx1 |
A |
G |
5: 24,731,204 (GRCm39) |
L204P |
probably damaging |
Het |
| Gle1 |
T |
A |
2: 29,826,223 (GRCm39) |
S101T |
probably benign |
Het |
| Gltpd2 |
A |
C |
11: 70,410,303 (GRCm39) |
Q87P |
probably damaging |
Het |
| Gm12789 |
T |
A |
4: 101,846,079 (GRCm39) |
D113E |
probably damaging |
Het |
| Grin3b |
G |
A |
10: 79,812,732 (GRCm39) |
G936R |
probably benign |
Het |
| Gtf3c2 |
C |
T |
5: 31,331,434 (GRCm39) |
|
probably null |
Het |
| Gvin3 |
T |
A |
7: 106,200,437 (GRCm39) |
|
noncoding transcript |
Het |
| Klhl28 |
T |
C |
12: 65,004,043 (GRCm39) |
T157A |
probably benign |
Het |
| Kmt2a |
A |
G |
9: 44,732,763 (GRCm39) |
|
probably benign |
Het |
| Lamp1 |
A |
G |
8: 13,222,541 (GRCm39) |
T242A |
probably benign |
Het |
| Lhfpl5 |
T |
G |
17: 28,795,300 (GRCm39) |
I109S |
possibly damaging |
Het |
| Lhfpl5 |
T |
A |
17: 28,801,962 (GRCm39) |
*220R |
probably null |
Het |
| Map4k2 |
C |
T |
19: 6,394,459 (GRCm39) |
T313I |
probably damaging |
Het |
| Matn2 |
A |
G |
15: 34,423,945 (GRCm39) |
D601G |
probably damaging |
Het |
| Mcur1 |
C |
T |
13: 43,705,147 (GRCm39) |
V170M |
possibly damaging |
Het |
| Mphosph10 |
T |
C |
7: 64,041,969 (GRCm39) |
|
probably benign |
Het |
| Nat8l |
G |
A |
5: 34,158,387 (GRCm39) |
A266T |
probably benign |
Het |
| Nckap5 |
G |
T |
1: 125,954,952 (GRCm39) |
D469E |
possibly damaging |
Het |
| Nckap5l |
G |
T |
15: 99,321,067 (GRCm39) |
P1238T |
probably damaging |
Het |
| Ngf |
A |
G |
3: 102,417,156 (GRCm39) |
|
probably benign |
Het |
| Ntng1 |
T |
A |
3: 109,842,184 (GRCm39) |
L196F |
probably damaging |
Het |
| Or2q1 |
A |
G |
6: 42,794,896 (GRCm39) |
I164V |
possibly damaging |
Het |
| Or2v2 |
A |
T |
11: 49,004,448 (GRCm39) |
V35D |
probably damaging |
Het |
| Pclo |
A |
T |
5: 14,725,045 (GRCm39) |
Y1301F |
unknown |
Het |
| Pclo |
A |
G |
5: 14,763,139 (GRCm39) |
T3871A |
unknown |
Het |
| Peli3 |
T |
C |
19: 4,982,594 (GRCm39) |
E357G |
probably damaging |
Het |
| Pkd1 |
T |
A |
17: 24,784,348 (GRCm39) |
|
probably null |
Het |
| Pla2g2c |
T |
G |
4: 138,461,645 (GRCm39) |
F38C |
probably damaging |
Het |
| Plekha2 |
T |
A |
8: 25,549,960 (GRCm39) |
T126S |
possibly damaging |
Het |
| Polr3f |
T |
A |
2: 144,376,001 (GRCm39) |
*142K |
probably null |
Het |
| Ppcs |
C |
T |
4: 119,276,343 (GRCm39) |
V81M |
probably benign |
Het |
| Prl7a1 |
A |
G |
13: 27,819,747 (GRCm39) |
I169T |
probably damaging |
Het |
| Rbm19 |
C |
A |
5: 120,271,799 (GRCm39) |
|
probably benign |
Het |
| Rdh7 |
T |
A |
10: 127,721,631 (GRCm39) |
Y215F |
probably benign |
Het |
| Rragd |
T |
G |
4: 32,995,072 (GRCm39) |
S62R |
probably benign |
Het |
| Rtel1 |
T |
C |
2: 180,997,728 (GRCm39) |
S1114P |
possibly damaging |
Het |
| Serpinb5 |
G |
T |
1: 106,800,069 (GRCm39) |
L86F |
probably damaging |
Het |
| Setbp1 |
A |
G |
18: 78,902,015 (GRCm39) |
S551P |
probably damaging |
Het |
| Setd6 |
T |
C |
8: 96,443,683 (GRCm39) |
|
probably benign |
Het |
| Slmap |
A |
C |
14: 26,183,507 (GRCm39) |
M292R |
probably damaging |
Het |
| Srrm4 |
T |
C |
5: 116,615,193 (GRCm39) |
D97G |
unknown |
Het |
| Stk-ps2 |
G |
A |
1: 46,068,125 (GRCm39) |
|
noncoding transcript |
Het |
| Syce1 |
A |
T |
7: 140,358,336 (GRCm39) |
M204K |
probably benign |
Het |
| Syk |
A |
G |
13: 52,765,242 (GRCm39) |
K123R |
probably benign |
Het |
| Tbc1d14 |
A |
T |
5: 36,729,175 (GRCm39) |
S64T |
probably damaging |
Het |
| Tmt1a3 |
A |
T |
15: 100,233,214 (GRCm39) |
D135V |
probably damaging |
Het |
| Traf3ip3 |
T |
C |
1: 192,867,137 (GRCm39) |
K295E |
probably damaging |
Het |
| Trp53bp2 |
T |
C |
1: 182,269,370 (GRCm39) |
|
probably null |
Het |
| Tspyl4 |
T |
A |
10: 34,173,734 (GRCm39) |
C75* |
probably null |
Het |
| Uqcc2 |
T |
C |
17: 27,344,133 (GRCm39) |
I52V |
probably benign |
Het |
| Vcp |
T |
A |
4: 42,983,486 (GRCm39) |
T525S |
probably damaging |
Het |
| Vmn2r18 |
A |
T |
5: 151,508,897 (GRCm39) |
|
probably null |
Het |
| Vmp1 |
A |
G |
11: 86,492,879 (GRCm39) |
V310A |
probably benign |
Het |
| Vps13d |
T |
A |
4: 144,795,735 (GRCm39) |
R3671S |
probably damaging |
Het |
| Wdr3 |
T |
C |
3: 100,053,861 (GRCm39) |
T544A |
possibly damaging |
Het |
| Zc3h14 |
C |
G |
12: 98,719,107 (GRCm39) |
D157E |
probably damaging |
Het |
| Zfp541 |
T |
A |
7: 15,824,307 (GRCm39) |
F1010I |
probably damaging |
Het |
| Zfp64 |
T |
C |
2: 168,768,032 (GRCm39) |
T527A |
probably benign |
Het |
| Zyx |
G |
T |
6: 42,333,421 (GRCm39) |
R449M |
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 |
|
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 |
|
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'- CAGTCAGGATAGCTACATGGCTG -3'
(R):5'- AGATGGCCTCACAGGTACAC -3'
Sequencing Primer
(F):5'- TGGCCACAGGACTCTAGTC -3'
(R):5'- GGCCTCACAGGTACACCACAG -3'
|
| Posted On |
2016-02-04 |
Incidental Mutation