Incidental Mutation 'R1799:Tsc2'
ID |
202980 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tsc2
|
Ensembl Gene |
ENSMUSG00000002496 |
Gene Name |
TSC complex subunit 2 |
Synonyms |
tuberin, Nafld, tuberous sclerosis 2 |
MMRRC Submission |
039829-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1799 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
24814790-24851604 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 24823382 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Glycine
at position 1055
(S1055G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000154706
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097373]
[ENSMUST00000226284]
[ENSMUST00000226398]
[ENSMUST00000228412]
[ENSMUST00000227607]
[ENSMUST00000227745]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000097373
AA Change: S1056G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000094986 Gene: ENSMUSG00000002496 AA Change: S1056G
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: S1099G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226309
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000226398
AA Change: S1056G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226428
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228412
AA Change: S1055G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000227607
AA Change: S997G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000227745
AA Change: S1099G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227330
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228729
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228220
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226985
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000227658
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227543
|
Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.3%
- 20x: 92.3%
|
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: 102 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A930011G23Rik |
A |
G |
5: 99,382,435 (GRCm39) |
L271P |
probably benign |
Het |
Adamts3 |
A |
C |
5: 89,923,280 (GRCm39) |
D175E |
probably benign |
Het |
Adcy4 |
T |
C |
14: 56,008,929 (GRCm39) |
T833A |
probably benign |
Het |
Adgrf5 |
A |
T |
17: 43,750,958 (GRCm39) |
I508F |
probably damaging |
Het |
Arhgap9 |
G |
T |
10: 127,163,593 (GRCm39) |
V464L |
probably damaging |
Het |
Atp10a |
T |
A |
7: 58,474,182 (GRCm39) |
D1156E |
probably damaging |
Het |
Atp2a1 |
A |
T |
7: 126,049,314 (GRCm39) |
M576K |
probably benign |
Het |
Atrx |
T |
C |
X: 104,891,235 (GRCm39) |
Q1536R |
probably damaging |
Het |
Ccdc141 |
A |
C |
2: 76,842,015 (GRCm39) |
V1472G |
possibly damaging |
Het |
Cd84 |
A |
G |
1: 171,700,317 (GRCm39) |
T145A |
possibly damaging |
Het |
Celsr1 |
G |
T |
15: 85,916,886 (GRCm39) |
N362K |
probably damaging |
Het |
Cep290 |
G |
A |
10: 100,352,058 (GRCm39) |
A755T |
probably benign |
Het |
Cfap70 |
T |
A |
14: 20,445,067 (GRCm39) |
E1071V |
probably damaging |
Het |
Cps1 |
T |
C |
1: 67,248,801 (GRCm39) |
V1176A |
probably damaging |
Het |
Csf2rb2 |
A |
C |
15: 78,181,268 (GRCm39) |
N41K |
probably damaging |
Het |
Csn1s2a |
G |
A |
5: 87,926,052 (GRCm39) |
V43M |
probably damaging |
Het |
Cyp26b1 |
T |
C |
6: 84,561,254 (GRCm39) |
D136G |
probably benign |
Het |
Cyp7b1 |
A |
G |
3: 18,151,616 (GRCm39) |
L199P |
probably benign |
Het |
Dapk1 |
C |
T |
13: 60,867,468 (GRCm39) |
T225I |
probably damaging |
Het |
Dio2 |
T |
A |
12: 90,696,680 (GRCm39) |
T103S |
probably benign |
Het |
Dipk1a |
C |
A |
5: 108,057,713 (GRCm39) |
V237F |
probably damaging |
Het |
Dnhd1 |
T |
A |
7: 105,304,974 (GRCm39) |
S339T |
probably benign |
Het |
Drc1 |
A |
G |
5: 30,523,841 (GRCm39) |
N737D |
probably damaging |
Het |
Efhc1 |
C |
T |
1: 21,049,762 (GRCm39) |
P541S |
probably benign |
Het |
Elmo2 |
A |
T |
2: 165,134,077 (GRCm39) |
I637N |
probably damaging |
Het |
Eps15 |
T |
A |
4: 109,240,034 (GRCm39) |
D492E |
probably damaging |
Het |
Ermn |
G |
T |
2: 57,938,249 (GRCm39) |
N121K |
probably benign |
Het |
F5 |
A |
G |
1: 164,021,100 (GRCm39) |
T1192A |
possibly damaging |
Het |
Fbxo22 |
T |
C |
9: 55,130,771 (GRCm39) |
F347L |
probably benign |
Het |
Fbxw15 |
G |
A |
9: 109,387,314 (GRCm39) |
S227F |
probably damaging |
Het |
Foxj3 |
A |
G |
4: 119,476,548 (GRCm39) |
N242S |
probably benign |
Het |
Gjb3 |
G |
A |
4: 127,220,224 (GRCm39) |
R103W |
probably damaging |
Het |
Grm4 |
A |
G |
17: 27,691,914 (GRCm39) |
V235A |
probably damaging |
Het |
Gstm4 |
T |
C |
3: 107,950,874 (GRCm39) |
N74S |
probably damaging |
Het |
Gtf3c3 |
A |
G |
1: 54,459,583 (GRCm39) |
V393A |
possibly damaging |
Het |
Hltf |
T |
A |
3: 20,159,855 (GRCm39) |
L702H |
probably damaging |
Het |
Inpp4a |
T |
A |
1: 37,432,059 (GRCm39) |
V153E |
possibly damaging |
Het |
Kmt5c |
T |
C |
7: 4,745,729 (GRCm39) |
|
probably null |
Het |
Kynu |
A |
G |
2: 43,494,169 (GRCm39) |
R201G |
possibly damaging |
Het |
Lrp2 |
T |
A |
2: 69,333,874 (GRCm39) |
T1456S |
probably benign |
Het |
Lrrc40 |
G |
A |
3: 157,742,441 (GRCm39) |
V19I |
probably benign |
Het |
M1ap |
T |
A |
6: 82,982,491 (GRCm39) |
C258* |
probably null |
Het |
Man2a1 |
T |
C |
17: 65,059,452 (GRCm39) |
L1113P |
probably benign |
Het |
Man2a1 |
C |
T |
17: 64,976,492 (GRCm39) |
R427W |
probably damaging |
Het |
Meikin |
C |
A |
11: 54,308,613 (GRCm39) |
Q404K |
probably benign |
Het |
Mfsd4a |
T |
C |
1: 131,981,334 (GRCm39) |
I222V |
possibly damaging |
Het |
N4bp2 |
A |
G |
5: 65,964,168 (GRCm39) |
N739S |
possibly damaging |
Het |
Ncoa2 |
A |
T |
1: 13,232,517 (GRCm39) |
|
probably null |
Het |
Nisch |
G |
T |
14: 30,899,228 (GRCm39) |
|
probably benign |
Het |
Nmur2 |
A |
G |
11: 55,920,447 (GRCm39) |
V266A |
probably damaging |
Het |
Npcd |
G |
A |
15: 79,712,987 (GRCm39) |
R147C |
probably damaging |
Het |
Or4q3 |
T |
A |
14: 50,583,537 (GRCm39) |
M121L |
probably benign |
Het |
Or5ac25 |
T |
A |
16: 59,182,243 (GRCm39) |
I113F |
probably benign |
Het |
Pals2 |
T |
A |
6: 50,173,525 (GRCm39) |
M463K |
probably damaging |
Het |
Parp4 |
A |
T |
14: 56,885,589 (GRCm39) |
H1556L |
unknown |
Het |
Pcdh9 |
G |
T |
14: 94,126,107 (GRCm39) |
A21E |
probably benign |
Het |
Phtf1 |
A |
G |
3: 103,903,958 (GRCm39) |
E436G |
probably benign |
Het |
Piezo2 |
C |
A |
18: 63,165,911 (GRCm39) |
|
probably null |
Het |
Piezo2 |
T |
C |
18: 63,241,158 (GRCm39) |
Y690C |
probably damaging |
Het |
Pla2g4f |
T |
C |
2: 120,141,549 (GRCm39) |
R183G |
possibly damaging |
Het |
Plxnd1 |
T |
C |
6: 115,971,018 (GRCm39) |
D250G |
probably damaging |
Het |
Ppig |
A |
G |
2: 69,579,744 (GRCm39) |
D426G |
unknown |
Het |
Ppp3cb |
T |
C |
14: 20,574,540 (GRCm39) |
E185G |
possibly damaging |
Het |
Qsox1 |
A |
T |
1: 155,670,364 (GRCm39) |
M151K |
probably null |
Het |
Ralgapa2 |
T |
C |
2: 146,184,648 (GRCm39) |
E1453G |
probably benign |
Het |
Rnf167 |
G |
A |
11: 70,540,838 (GRCm39) |
V191I |
probably benign |
Het |
Rp1 |
T |
C |
1: 4,419,055 (GRCm39) |
K686E |
possibly damaging |
Het |
Ryr1 |
T |
G |
7: 28,767,046 (GRCm39) |
Q2979P |
probably damaging |
Het |
Scaf1 |
T |
A |
7: 44,657,443 (GRCm39) |
I479F |
probably damaging |
Het |
Septin8 |
A |
G |
11: 53,425,310 (GRCm39) |
T68A |
probably benign |
Het |
Sh3rf1 |
A |
T |
8: 61,825,661 (GRCm39) |
N552I |
probably damaging |
Het |
Shoc1 |
A |
T |
4: 59,099,383 (GRCm39) |
V103D |
possibly damaging |
Het |
Slc1a3 |
A |
G |
15: 8,717,888 (GRCm39) |
L68P |
probably damaging |
Het |
Slc39a6 |
G |
A |
18: 24,718,524 (GRCm39) |
P511L |
probably benign |
Het |
Slc9c1 |
A |
G |
16: 45,374,652 (GRCm39) |
Y339C |
probably damaging |
Het |
Smarcal1 |
G |
T |
1: 72,625,120 (GRCm39) |
C89F |
probably damaging |
Het |
Smu1 |
A |
T |
4: 40,745,537 (GRCm39) |
M261K |
probably damaging |
Het |
Spag8 |
T |
G |
4: 43,653,087 (GRCm39) |
|
probably benign |
Het |
Spag8 |
T |
C |
4: 43,653,345 (GRCm39) |
|
probably benign |
Het |
Spata31d1a |
T |
C |
13: 59,851,216 (GRCm39) |
D304G |
probably benign |
Het |
Spdl1 |
A |
T |
11: 34,711,856 (GRCm39) |
L298* |
probably null |
Het |
Stac2 |
C |
T |
11: 97,930,444 (GRCm39) |
|
probably null |
Het |
Stag1 |
A |
G |
9: 100,835,515 (GRCm39) |
|
probably null |
Het |
Stpg2 |
C |
T |
3: 139,125,542 (GRCm39) |
P445L |
probably damaging |
Het |
Sult2a8 |
A |
T |
7: 14,157,451 (GRCm39) |
V128E |
probably damaging |
Het |
Synm |
A |
G |
7: 67,385,707 (GRCm39) |
F210L |
probably damaging |
Het |
Tbck |
C |
G |
3: 132,480,263 (GRCm39) |
A714G |
probably benign |
Het |
Tcerg1 |
A |
T |
18: 42,694,012 (GRCm39) |
Y711F |
possibly damaging |
Het |
Tnfrsf25 |
A |
G |
4: 152,201,465 (GRCm39) |
T98A |
probably benign |
Het |
Togaram2 |
T |
C |
17: 71,998,450 (GRCm39) |
S218P |
probably damaging |
Het |
Tpp1 |
A |
T |
7: 105,399,515 (GRCm39) |
D84E |
probably benign |
Het |
Trim30d |
G |
T |
7: 104,132,682 (GRCm39) |
Q202K |
probably damaging |
Het |
Trim37 |
T |
A |
11: 87,068,845 (GRCm39) |
V397E |
probably damaging |
Het |
Triml1 |
A |
T |
8: 43,583,512 (GRCm39) |
I363N |
probably damaging |
Het |
Trpm6 |
T |
A |
19: 18,869,363 (GRCm39) |
|
probably null |
Het |
Ubr5 |
T |
C |
15: 37,989,621 (GRCm39) |
D2065G |
probably damaging |
Het |
Uggt2 |
G |
T |
14: 119,269,688 (GRCm39) |
P948Q |
probably benign |
Het |
Vps13c |
A |
T |
9: 67,851,399 (GRCm39) |
S2345C |
probably damaging |
Het |
Wtap |
G |
T |
17: 13,199,771 (GRCm39) |
R48S |
possibly damaging |
Het |
Zbtb38 |
A |
G |
9: 96,570,934 (GRCm39) |
V50A |
probably damaging |
Het |
Zcchc2 |
T |
A |
1: 105,958,017 (GRCm39) |
S829R |
probably benign |
Het |
Zfp385b |
T |
C |
2: 77,246,316 (GRCm39) |
D237G |
probably benign |
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 |
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'- TGGCCAGTCACAAAGCTAG -3'
(R):5'- CACTGTGACAACAAGTGTGGG -3'
Sequencing Primer
(F):5'- TTCTGCACACTGGGGCAAAC -3'
(R):5'- TGGGAACTGGTACACGGTC -3'
|
Posted On |
2014-06-23 |