Incidental Mutation 'R0138:Tsc2'
| ID |
22137 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tsc2
|
| Ensembl Gene |
ENSMUSG00000002496 |
| Gene Name |
tuberous sclerosis 2 |
| Synonyms |
tuberin, Nafld |
| MMRRC Submission |
038423-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0138 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| Chromosome |
17 |
| Chromosomal Location |
24595816-24632630 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 24599626 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 1412
(V1412E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154706
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035565]
[ENSMUST00000097373]
[ENSMUST00000226284]
[ENSMUST00000226398]
[ENSMUST00000227607]
[ENSMUST00000227745]
[ENSMUST00000228412]
[ENSMUST00000227804]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
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 |
probably benign
Transcript: ENSMUST00000097373
AA Change: V1413E
PolyPhen 2
Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000094986
Gene: ENSMUSG00000002496
AA Change: V1413E
| 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 |
probably benign
Transcript: ENSMUST00000226284
AA Change: V1456E
PolyPhen 2
Score 0.183 (Sensitivity: 0.92; Specificity: 0.87)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226398
AA Change: V1413E
PolyPhen 2
Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226428
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226473
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226691
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227094
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227107
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227330
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227432
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000227607
AA Change: V1354E
PolyPhen 2
Score 0.505 (Sensitivity: 0.88; Specificity: 0.90)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000227745
AA Change: V1479E
PolyPhen 2
Score 0.478 (Sensitivity: 0.89; Specificity: 0.90)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000228412
AA Change: V1412E
PolyPhen 2
Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227804
|
| Meta Mutation Damage Score |
0.1088 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 92.8%
|
| Validation Efficiency |
97% (76/78) |
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
T |
A |
3: 122,105,449 (GRCm38) |
N693K |
probably damaging |
Het |
| Adgrl3 |
T |
A |
5: 81,693,607 (GRCm38) |
V845D |
probably damaging |
Het |
| Anxa8 |
T |
A |
14: 34,097,939 (GRCm38) |
F269Y |
probably benign |
Het |
| Anxa8 |
T |
A |
14: 34,097,940 (GRCm38) |
F295L |
possibly damaging |
Het |
| Aox4 |
C |
G |
1: 58,228,866 (GRCm38) |
L202V |
probably damaging |
Het |
| Ap3s2 |
A |
G |
7: 79,909,869 (GRCm38) |
V104A |
probably benign |
Het |
| Aqp3 |
G |
A |
4: 41,094,843 (GRCm38) |
|
probably benign |
Het |
| Arhgef26 |
C |
T |
3: 62,448,259 (GRCm38) |
H751Y |
probably benign |
Het |
| Asic4 |
A |
T |
1: 75,469,687 (GRCm38) |
Q291L |
possibly damaging |
Het |
| Bap1 |
T |
C |
14: 31,256,724 (GRCm38) |
Y31H |
probably damaging |
Het |
| Brf1 |
A |
T |
12: 112,961,139 (GRCm38) |
V655D |
probably damaging |
Het |
| Cebpz |
A |
G |
17: 78,931,391 (GRCm38) |
S663P |
probably benign |
Het |
| Ces2h |
A |
G |
8: 105,018,061 (GRCm38) |
D357G |
probably benign |
Het |
| Cfap36 |
T |
C |
11: 29,244,073 (GRCm38) |
T90A |
probably benign |
Het |
| Ciita |
A |
T |
16: 10,512,270 (GRCm38) |
D803V |
probably damaging |
Het |
| Clnk |
C |
A |
5: 38,774,608 (GRCm38) |
|
probably benign |
Het |
| Cyp46a1 |
A |
G |
12: 108,351,211 (GRCm38) |
N158S |
probably damaging |
Het |
| Cyp4f13 |
A |
G |
17: 32,941,106 (GRCm38) |
I98T |
possibly damaging |
Het |
| Def8 |
G |
A |
8: 123,456,495 (GRCm38) |
A278T |
probably damaging |
Het |
| Dll3 |
T |
A |
7: 28,301,321 (GRCm38) |
D103V |
possibly damaging |
Het |
| Dnai1 |
T |
A |
4: 41,629,814 (GRCm38) |
M446K |
possibly damaging |
Het |
| Dppa4 |
A |
T |
16: 48,291,062 (GRCm38) |
T85S |
probably benign |
Het |
| Eif4g1 |
A |
T |
16: 20,675,345 (GRCm38) |
H57L |
probably damaging |
Het |
| Fmnl3 |
G |
C |
15: 99,322,738 (GRCm38) |
|
probably benign |
Het |
| Fn1 |
T |
A |
1: 71,624,110 (GRCm38) |
Q1073L |
possibly damaging |
Het |
| Foxp4 |
T |
C |
17: 47,869,179 (GRCm38) |
D599G |
unknown |
Het |
| Frrs1 |
T |
C |
3: 116,881,807 (GRCm38) |
V128A |
possibly damaging |
Het |
| Gcfc2 |
G |
A |
6: 81,949,954 (GRCm38) |
D608N |
probably damaging |
Het |
| Gm1043 |
T |
C |
5: 37,192,973 (GRCm38) |
|
probably benign |
Het |
| Gm5148 |
T |
C |
3: 37,714,777 (GRCm38) |
E98G |
probably benign |
Het |
| Gpr141 |
T |
C |
13: 19,752,258 (GRCm38) |
I116V |
probably benign |
Het |
| Hic1 |
T |
C |
11: 75,167,343 (GRCm38) |
N240S |
probably damaging |
Het |
| Hpx |
G |
A |
7: 105,592,238 (GRCm38) |
T322I |
probably damaging |
Het |
| Hs3st4 |
A |
T |
7: 124,397,193 (GRCm38) |
M361L |
probably benign |
Het |
| Ifrd1 |
A |
G |
12: 40,207,130 (GRCm38) |
|
probably benign |
Het |
| Ino80 |
G |
A |
2: 119,382,960 (GRCm38) |
R1249C |
probably damaging |
Het |
| Klk1b21 |
T |
A |
7: 44,105,895 (GRCm38) |
C173S |
probably damaging |
Het |
| Krt25 |
A |
T |
11: 99,322,698 (GRCm38) |
V65E |
probably benign |
Het |
| Lrrc15 |
A |
T |
16: 30,273,449 (GRCm38) |
D357E |
possibly damaging |
Het |
| Lrrd1 |
T |
A |
5: 3,851,345 (GRCm38) |
V550E |
probably benign |
Het |
| Macf1 |
A |
G |
4: 123,440,747 (GRCm38) |
Y1490H |
probably damaging |
Het |
| Macrod1 |
A |
G |
19: 7,196,916 (GRCm38) |
|
probably benign |
Het |
| Mcm5 |
T |
A |
8: 75,120,880 (GRCm38) |
V435D |
probably damaging |
Het |
| Mctp1 |
C |
T |
13: 76,827,712 (GRCm38) |
R478C |
probably damaging |
Het |
| Med10 |
T |
C |
13: 69,811,698 (GRCm38) |
|
probably benign |
Het |
| Mrpl4 |
T |
C |
9: 21,008,592 (GRCm38) |
Y280H |
probably benign |
Het |
| Msrb3 |
T |
C |
10: 120,851,987 (GRCm38) |
E61G |
probably damaging |
Het |
| Myo1c |
T |
C |
11: 75,661,001 (GRCm38) |
Y337H |
possibly damaging |
Het |
| Myo7b |
T |
A |
18: 32,010,151 (GRCm38) |
T165S |
probably damaging |
Het |
| Myrfl |
T |
A |
10: 116,849,233 (GRCm38) |
R81W |
probably damaging |
Het |
| Neil1 |
T |
C |
9: 57,143,746 (GRCm38) |
|
probably benign |
Het |
| Neto2 |
A |
G |
8: 85,641,044 (GRCm38) |
I357T |
possibly damaging |
Het |
| Nfat5 |
C |
T |
8: 107,339,075 (GRCm38) |
R156W |
probably damaging |
Het |
| Nkx6-3 |
T |
C |
8: 23,153,591 (GRCm38) |
S3P |
probably benign |
Het |
| Or52h7 |
A |
T |
7: 104,565,003 (GRCm38) |
I261L |
probably benign |
Het |
| Plce1 |
T |
C |
19: 38,524,419 (GRCm38) |
I54T |
possibly damaging |
Het |
| Prex2 |
A |
T |
1: 11,285,043 (GRCm38) |
|
probably benign |
Het |
| Psapl1 |
T |
A |
5: 36,204,631 (GRCm38) |
V189E |
probably damaging |
Het |
| Ptdss2 |
T |
G |
7: 141,155,319 (GRCm38) |
|
probably benign |
Het |
| Rnf213 |
T |
C |
11: 119,416,496 (GRCm38) |
C661R |
probably benign |
Het |
| Rpap1 |
T |
C |
2: 119,764,899 (GRCm38) |
|
probably null |
Het |
| Rrp1b |
A |
G |
17: 32,060,452 (GRCm38) |
T696A |
probably benign |
Het |
| Sacm1l |
T |
A |
9: 123,548,917 (GRCm38) |
H87Q |
probably benign |
Het |
| Serpinb11 |
T |
A |
1: 107,377,530 (GRCm38) |
M212K |
probably damaging |
Het |
| Tbc1d22a |
C |
A |
15: 86,299,684 (GRCm38) |
T248K |
probably damaging |
Het |
| Tcerg1 |
C |
T |
18: 42,568,614 (GRCm38) |
|
probably benign |
Het |
| Tpst1 |
T |
A |
5: 130,101,786 (GRCm38) |
H32Q |
probably damaging |
Het |
| Usp19 |
C |
A |
9: 108,501,315 (GRCm38) |
P1326Q |
possibly damaging |
Het |
| Vmn1r235 |
T |
A |
17: 21,262,334 (GRCm38) |
M307K |
probably damaging |
Het |
| Vmn2r58 |
T |
A |
7: 41,837,624 (GRCm38) |
T616S |
probably damaging |
Het |
| Vps13a |
G |
A |
19: 16,660,499 (GRCm38) |
T2406I |
possibly damaging |
Het |
| Zbtb26 |
T |
A |
2: 37,436,041 (GRCm38) |
M328L |
probably benign |
Het |
| Zp2 |
A |
G |
7: 120,137,200 (GRCm38) |
F340S |
probably damaging |
Het |
|
| Other mutations in Tsc2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00231:Tsc2
|
APN |
17 |
24,608,107 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00985:Tsc2
|
APN |
17 |
24,597,131 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01386:Tsc2
|
APN |
17 |
24,613,285 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01468:Tsc2
|
APN |
17 |
24,621,097 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
IGL01530:Tsc2
|
APN |
17 |
24,622,662 (GRCm38) |
missense |
possibly damaging |
0.76 |
|
IGL02390:Tsc2
|
APN |
17 |
24,600,453 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02398:Tsc2
|
APN |
17 |
24,621,729 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02741:Tsc2
|
APN |
17 |
24,629,969 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03191:Tsc2
|
APN |
17 |
24,628,054 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03372:Tsc2
|
APN |
17 |
24,619,470 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03412:Tsc2
|
APN |
17 |
24,597,068 (GRCm38) |
missense |
probably damaging |
0.98 |
|
Twitch
|
UTSW |
17 |
24,596,742 (GRCm38) |
splice site |
probably null |
|
|
PIT4515001:Tsc2
|
UTSW |
17 |
24,621,147 (GRCm38) |
missense |
probably benign |
0.15 |
|
R0025:Tsc2
|
UTSW |
17 |
24,631,004 (GRCm38) |
splice site |
probably benign |
|
|
R0025:Tsc2
|
UTSW |
17 |
24,631,004 (GRCm38) |
splice site |
probably benign |
|
|
R0540:Tsc2
|
UTSW |
17 |
24,621,712 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0570:Tsc2
|
UTSW |
17 |
24,626,727 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0607:Tsc2
|
UTSW |
17 |
24,621,712 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0826:Tsc2
|
UTSW |
17 |
24,596,958 (GRCm38) |
missense |
probably benign |
0.04 |
|
R1430:Tsc2
|
UTSW |
17 |
24,599,023 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1440:Tsc2
|
UTSW |
17 |
24,614,392 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1466:Tsc2
|
UTSW |
17 |
24,608,973 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1466:Tsc2
|
UTSW |
17 |
24,608,973 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1541:Tsc2
|
UTSW |
17 |
24,631,976 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1717:Tsc2
|
UTSW |
17 |
24,597,068 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1799:Tsc2
|
UTSW |
17 |
24,604,408 (GRCm38) |
missense |
probably benign |
|
|
R2030:Tsc2
|
UTSW |
17 |
24,623,470 (GRCm38) |
splice site |
probably benign |
|
|
R2147:Tsc2
|
UTSW |
17 |
24,621,142 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
R2888:Tsc2
|
UTSW |
17 |
24,631,995 (GRCm38) |
critical splice donor site |
probably null |
|
|
R3609:Tsc2
|
UTSW |
17 |
24,622,550 (GRCm38) |
missense |
possibly damaging |
0.74 |
|
R3610:Tsc2
|
UTSW |
17 |
24,622,550 (GRCm38) |
missense |
possibly damaging |
0.74 |
|
R3811:Tsc2
|
UTSW |
17 |
24,629,037 (GRCm38) |
missense |
probably benign |
0.09 |
|
R3895:Tsc2
|
UTSW |
17 |
24,599,812 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3962:Tsc2
|
UTSW |
17 |
24,621,166 (GRCm38) |
splice site |
probably benign |
|
|
R3971:Tsc2
|
UTSW |
17 |
24,623,588 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4018:Tsc2
|
UTSW |
17 |
24,625,281 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4184:Tsc2
|
UTSW |
17 |
24,632,016 (GRCm38) |
missense |
probably benign |
0.43 |
|
R4435:Tsc2
|
UTSW |
17 |
24,599,713 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4437:Tsc2
|
UTSW |
17 |
24,599,713 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4474:Tsc2
|
UTSW |
17 |
24,597,264 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4703:Tsc2
|
UTSW |
17 |
24,604,909 (GRCm38) |
missense |
probably benign |
0.13 |
|
R4731:Tsc2
|
UTSW |
17 |
24,603,275 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
R4732:Tsc2
|
UTSW |
17 |
24,603,275 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
R4733:Tsc2
|
UTSW |
17 |
24,603,275 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
R4817:Tsc2
|
UTSW |
17 |
24,596,742 (GRCm38) |
splice site |
probably null |
|
|
R4890:Tsc2
|
UTSW |
17 |
24,600,035 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4922:Tsc2
|
UTSW |
17 |
24,600,369 (GRCm38) |
missense |
probably benign |
0.22 |
|
R5119:Tsc2
|
UTSW |
17 |
24,603,280 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5393:Tsc2
|
UTSW |
17 |
24,600,396 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R5785:Tsc2
|
UTSW |
17 |
24,599,887 (GRCm38) |
splice site |
probably null |
|
|
R5838:Tsc2
|
UTSW |
17 |
24,613,216 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5857:Tsc2
|
UTSW |
17 |
24,600,007 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5911:Tsc2
|
UTSW |
17 |
24,600,387 (GRCm38) |
missense |
possibly damaging |
0.63 |
|
R5988:Tsc2
|
UTSW |
17 |
24,620,766 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6275:Tsc2
|
UTSW |
17 |
24,600,420 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6290:Tsc2
|
UTSW |
17 |
24,596,910 (GRCm38) |
missense |
probably benign |
0.04 |
|
R6371:Tsc2
|
UTSW |
17 |
24,626,714 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6467:Tsc2
|
UTSW |
17 |
24,609,127 (GRCm38) |
missense |
probably benign |
0.04 |
|
R6577:Tsc2
|
UTSW |
17 |
24,610,499 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6728:Tsc2
|
UTSW |
17 |
24,621,124 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6918:Tsc2
|
UTSW |
17 |
24,613,229 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6995:Tsc2
|
UTSW |
17 |
24,628,054 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7026:Tsc2
|
UTSW |
17 |
24,626,739 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7136:Tsc2
|
UTSW |
17 |
24,613,280 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7236:Tsc2
|
UTSW |
17 |
24,623,594 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R7243:Tsc2
|
UTSW |
17 |
24,599,630 (GRCm38) |
missense |
probably benign |
0.02 |
|
R7249:Tsc2
|
UTSW |
17 |
24,607,755 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7450:Tsc2
|
UTSW |
17 |
24,600,031 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7522:Tsc2
|
UTSW |
17 |
24,630,965 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7529:Tsc2
|
UTSW |
17 |
24,597,948 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7637:Tsc2
|
UTSW |
17 |
24,607,492 (GRCm38) |
missense |
probably benign |
0.13 |
|
R7781:Tsc2
|
UTSW |
17 |
24,608,115 (GRCm38) |
missense |
possibly damaging |
0.52 |
|
R8005:Tsc2
|
UTSW |
17 |
24,599,596 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8262:Tsc2
|
UTSW |
17 |
24,614,366 (GRCm38) |
missense |
probably benign |
0.06 |
|
R8268:Tsc2
|
UTSW |
17 |
24,600,010 (GRCm38) |
missense |
probably benign |
0.44 |
|
R8400:Tsc2
|
UTSW |
17 |
24,604,987 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
R9020:Tsc2
|
UTSW |
17 |
24,626,717 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9039:Tsc2
|
UTSW |
17 |
24,607,515 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9065:Tsc2
|
UTSW |
17 |
24,603,190 (GRCm38) |
missense |
probably benign |
0.39 |
|
R9123:Tsc2
|
UTSW |
17 |
24,604,828 (GRCm38) |
missense |
probably null |
0.40 |
|
R9125:Tsc2
|
UTSW |
17 |
24,604,828 (GRCm38) |
missense |
probably null |
0.40 |
|
R9186:Tsc2
|
UTSW |
17 |
24,604,888 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9390:Tsc2
|
UTSW |
17 |
24,604,850 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9542:Tsc2
|
UTSW |
17 |
24,600,334 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9721:Tsc2
|
UTSW |
17 |
24,599,642 (GRCm38) |
nonsense |
probably null |
|
|
Z1177:Tsc2
|
UTSW |
17 |
24,620,779 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGGCAGGACCTAAACTCTACGGC -3'
(R):5'- ACCTTACAGGACATCCTTGGAGACC -3'
Sequencing Primer
(F):5'- AGGACCCACCCTCCTTATGG -3'
(R):5'- TGAGTCCTGAGGCTAAGGTCC -3'
|
| Posted On |
2013-04-12 |
Incidental Mutation