Incidental Mutation 'R7243:Tsc2'
| ID |
563392 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tsc2
|
| Ensembl Gene |
ENSMUSG00000002496 |
| Gene Name |
TSC complex subunit 2 |
| Synonyms |
tuberin, Nafld, tuberous sclerosis 2 |
| MMRRC Submission |
045307-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7243 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
24814790-24851604 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 24818604 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 1412
(R1412G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000094986
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035565]
[ENSMUST00000097373]
[ENSMUST00000226284]
[ENSMUST00000226398]
[ENSMUST00000227607]
[ENSMUST00000227745]
[ENSMUST00000227804]
[ENSMUST00000228412]
|
| 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: R1412G
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000094986
Gene: ENSMUSG00000002496
AA Change: R1412G
| 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 |
probably benign
Transcript: ENSMUST00000226284
AA Change: R1455G
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226398
AA Change: R1412G
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227107
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227607
AA Change: R1353G
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227745
AA Change: R1478G
PolyPhen 2
Score 0.448 (Sensitivity: 0.89; Specificity: 0.90)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227804
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228412
AA Change: R1411G
PolyPhen 2
Score 0.448 (Sensitivity: 0.89; Specificity: 0.90)
|
| Meta Mutation Damage Score |
0.1424 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
99% (73/74) |
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acap1 |
G |
A |
11: 69,781,297 (GRCm39) |
H103Y |
probably benign |
Het |
| Adamdec1 |
A |
G |
14: 68,809,203 (GRCm39) |
M253T |
probably benign |
Het |
| Alox15 |
C |
A |
11: 70,241,540 (GRCm39) |
G114C |
probably null |
Het |
| Aox3 |
G |
T |
1: 58,177,466 (GRCm39) |
G227V |
unknown |
Het |
| Atp8a2 |
A |
T |
14: 59,885,291 (GRCm39) |
N1144K |
probably benign |
Het |
| Cacna1c |
C |
T |
6: 118,614,690 (GRCm39) |
|
probably null |
Het |
| Cog6 |
A |
T |
3: 52,909,736 (GRCm39) |
W314R |
probably damaging |
Het |
| Col5a2 |
A |
G |
1: 45,415,320 (GRCm39) |
I1473T |
probably benign |
Het |
| Csmd1 |
T |
A |
8: 15,965,357 (GRCm39) |
D3218V |
probably damaging |
Het |
| Cyp3a11 |
A |
G |
5: 145,795,613 (GRCm39) |
M446T |
probably damaging |
Het |
| Dhps |
A |
G |
8: 85,801,567 (GRCm39) |
Y340C |
probably benign |
Het |
| Dnah7b |
A |
G |
1: 46,122,914 (GRCm39) |
N108S |
probably benign |
Het |
| Dnajb1 |
C |
T |
8: 84,337,393 (GRCm39) |
P323L |
probably damaging |
Het |
| Dspp |
TGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCAACAGCAGTGACAGCAG |
TGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCAACAGCAGTGACAGCAG |
5: 104,326,227 (GRCm39) |
|
probably benign |
Het |
| Dync2h1 |
G |
T |
9: 7,102,405 (GRCm39) |
T2665K |
possibly damaging |
Het |
| Etv1 |
C |
T |
12: 38,907,045 (GRCm39) |
S349L |
probably benign |
Het |
| Fam171a1 |
A |
T |
2: 3,119,653 (GRCm39) |
T21S |
probably benign |
Het |
| Fbh1 |
T |
A |
2: 11,756,336 (GRCm39) |
T749S |
probably benign |
Het |
| Fcho2 |
T |
C |
13: 98,891,724 (GRCm39) |
D346G |
possibly damaging |
Het |
| Fcrl5 |
A |
G |
3: 87,349,552 (GRCm39) |
H109R |
probably benign |
Het |
| Fstl1 |
A |
G |
16: 37,647,088 (GRCm39) |
S153G |
probably benign |
Het |
| Fyb1 |
T |
C |
15: 6,673,180 (GRCm39) |
F605L |
probably benign |
Het |
| Gcat |
T |
A |
15: 78,921,063 (GRCm39) |
M363K |
possibly damaging |
Het |
| Gm10604 |
T |
C |
4: 11,980,113 (GRCm39) |
T64A |
unknown |
Het |
| Grin2d |
A |
G |
7: 45,515,552 (GRCm39) |
L147P |
probably damaging |
Het |
| Ift88 |
A |
T |
14: 57,667,993 (GRCm39) |
|
probably null |
Het |
| Ighg1 |
A |
T |
12: 113,294,066 (GRCm39) |
C26S |
|
Het |
| Ing2 |
A |
G |
8: 48,127,574 (GRCm39) |
S48P |
probably damaging |
Het |
| Kat6a |
C |
T |
8: 23,428,791 (GRCm39) |
T1382I |
probably benign |
Het |
| Kdm1a |
A |
G |
4: 136,279,265 (GRCm39) |
V765A |
probably damaging |
Het |
| Klk1b26 |
T |
C |
7: 43,665,691 (GRCm39) |
S168P |
not run |
Het |
| Klk1b26 |
A |
G |
7: 43,666,337 (GRCm39) |
N260S |
probably damaging |
Het |
| Lama3 |
G |
A |
18: 12,552,902 (GRCm39) |
G438D |
probably damaging |
Het |
| Larp6 |
T |
A |
9: 60,620,569 (GRCm39) |
D27E |
probably benign |
Het |
| Lrba |
T |
A |
3: 86,658,823 (GRCm39) |
|
probably null |
Het |
| Lrig2 |
A |
T |
3: 104,404,883 (GRCm39) |
|
probably null |
Het |
| Megf9 |
T |
C |
4: 70,353,708 (GRCm39) |
E366G |
probably benign |
Het |
| Mob1b |
T |
A |
5: 88,891,304 (GRCm39) |
D52E |
probably damaging |
Het |
| Ndufb3 |
A |
T |
1: 58,630,282 (GRCm39) |
H11L |
unknown |
Het |
| Odc1 |
T |
G |
12: 17,600,058 (GRCm39) |
Y407* |
probably null |
Het |
| Ogfr |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
2: 180,237,059 (GRCm39) |
|
probably benign |
Het |
| Opa1 |
A |
G |
16: 29,405,814 (GRCm39) |
I126M |
probably benign |
Het |
| Or2t47 |
T |
C |
11: 58,442,227 (GRCm39) |
I279M |
probably damaging |
Het |
| Or3a1b |
T |
A |
11: 74,012,559 (GRCm39) |
V148E |
probably damaging |
Het |
| Or51a10 |
A |
G |
7: 103,698,962 (GRCm39) |
Y200H |
probably damaging |
Het |
| Or51f5 |
A |
T |
7: 102,430,865 (GRCm39) |
T61S |
probably benign |
Het |
| Pcca |
A |
G |
14: 123,114,186 (GRCm39) |
H633R |
probably benign |
Het |
| Pcdhb22 |
A |
G |
18: 37,653,685 (GRCm39) |
R461G |
probably benign |
Het |
| Pcf11 |
A |
T |
7: 92,309,268 (GRCm39) |
D647E |
probably damaging |
Het |
| Plscr1l1 |
A |
G |
9: 92,225,726 (GRCm39) |
Y16C |
probably damaging |
Het |
| Plxnd1 |
T |
A |
6: 115,949,468 (GRCm39) |
I773F |
probably benign |
Het |
| Prl8a1 |
A |
T |
13: 27,766,086 (GRCm39) |
L3Q |
probably damaging |
Het |
| Psg17 |
C |
A |
7: 18,552,640 (GRCm39) |
G212C |
probably damaging |
Het |
| Ptbp2 |
G |
T |
3: 119,546,761 (GRCm39) |
N40K |
possibly damaging |
Het |
| Ptprj |
T |
C |
2: 90,276,765 (GRCm39) |
H1102R |
probably damaging |
Het |
| Rbfox3 |
T |
C |
11: 118,404,100 (GRCm39) |
Y33C |
probably damaging |
Het |
| Ros1 |
T |
A |
10: 51,999,477 (GRCm39) |
N1158Y |
probably damaging |
Het |
| Rpgrip1l |
T |
C |
8: 91,996,751 (GRCm39) |
I710V |
probably benign |
Het |
| Scn9a |
A |
G |
2: 66,370,874 (GRCm39) |
F569L |
probably damaging |
Het |
| Slc12a4 |
A |
T |
8: 106,680,552 (GRCm39) |
M190K |
probably damaging |
Het |
| Slc22a20 |
G |
A |
19: 6,021,599 (GRCm39) |
R468C |
probably damaging |
Het |
| Slc45a2 |
T |
A |
15: 11,023,436 (GRCm39) |
Y347N |
possibly damaging |
Het |
| Slc4a10 |
A |
G |
2: 62,134,206 (GRCm39) |
Y974C |
probably damaging |
Het |
| Snap47 |
A |
G |
11: 59,319,548 (GRCm39) |
S197P |
probably benign |
Het |
| Snph |
T |
C |
2: 151,436,173 (GRCm39) |
S252G |
probably damaging |
Het |
| Spns2 |
A |
T |
11: 72,347,686 (GRCm39) |
W335R |
probably damaging |
Het |
| Thnsl1 |
A |
G |
2: 21,217,658 (GRCm39) |
I471V |
probably damaging |
Het |
| Tmprss11f |
C |
A |
5: 86,677,975 (GRCm39) |
G265C |
probably damaging |
Het |
| Tnn |
C |
T |
1: 159,934,687 (GRCm39) |
R1242H |
probably benign |
Het |
| Tsc22d2 |
G |
T |
3: 58,323,884 (GRCm39) |
V259F |
unknown |
Het |
| Ttll13 |
A |
C |
7: 79,903,911 (GRCm39) |
K280Q |
probably damaging |
Het |
| Wls |
A |
T |
3: 159,615,402 (GRCm39) |
I306F |
possibly damaging |
Het |
| Zfp566 |
A |
G |
7: 29,777,701 (GRCm39) |
V160A |
probably benign |
Het |
| Zfyve28 |
T |
C |
5: 34,356,219 (GRCm39) |
T761A |
probably damaging |
Het |
| Zswim8 |
G |
A |
14: 20,764,436 (GRCm39) |
R602Q |
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 |
|
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 |
|
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'- TTATGGCTCCCACCAGCTAC -3'
(R):5'- TGAGTCCTGAGGCTAAGGTC -3'
Sequencing Primer
(F):5'- GGAAGACACAATTCATGACTGCCTG -3'
(R):5'- TAAGGTCCGGTCCCAGTCAG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation