Incidental Mutation 'R9186:Tsc2'
| ID |
697406 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tsc2
|
| Ensembl Gene |
ENSMUSG00000002496 |
| Gene Name |
TSC complex subunit 2 |
| Synonyms |
tuberin, Nafld, tuberous sclerosis 2 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9186 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
24814790-24851604 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 24823862 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 981
(E981G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000094986
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097373]
[ENSMUST00000226284]
[ENSMUST00000226398]
[ENSMUST00000227607]
[ENSMUST00000227745]
[ENSMUST00000228412]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000097373
AA Change: E981G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000094986
Gene: ENSMUSG00000002496
AA Change: E981G
| 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 damaging
Transcript: ENSMUST00000226284
AA Change: E1024G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000226398
AA Change: E981G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000227607
AA Change: E922G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227658
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000227745
AA Change: E1024G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000228412
AA Change: E980G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017B05Rik |
C |
A |
9: 57,164,472 (GRCm39) |
R634L |
probably damaging |
Het |
| Ankhd1 |
T |
C |
18: 36,767,383 (GRCm39) |
I210T |
possibly damaging |
Het |
| Ankle2 |
G |
A |
5: 110,400,610 (GRCm39) |
V649M |
possibly damaging |
Het |
| Arid3b |
A |
T |
9: 57,702,217 (GRCm39) |
|
probably null |
Het |
| Arl10 |
A |
G |
13: 54,726,620 (GRCm39) |
N133D |
probably damaging |
Het |
| Bag6 |
C |
T |
17: 35,363,667 (GRCm39) |
R784W |
probably damaging |
Het |
| Ccnl1 |
T |
C |
3: 65,865,426 (GRCm39) |
T42A |
unknown |
Het |
| Cd164 |
C |
A |
10: 41,404,695 (GRCm39) |
P151Q |
probably damaging |
Het |
| Cdh23 |
G |
A |
10: 60,143,306 (GRCm39) |
A3005V |
possibly damaging |
Het |
| Ceacam2 |
T |
A |
7: 25,227,213 (GRCm39) |
N218I |
probably damaging |
Het |
| Cfap97 |
C |
T |
8: 46,644,665 (GRCm39) |
R466C |
possibly damaging |
Het |
| Colgalt2 |
C |
A |
1: 152,384,403 (GRCm39) |
T581K |
probably damaging |
Het |
| Dnah11 |
T |
A |
12: 118,154,632 (GRCm39) |
D216V |
probably benign |
Het |
| Dusp13b |
A |
T |
14: 21,798,563 (GRCm39) |
S34T |
probably damaging |
Het |
| Esf1 |
T |
A |
2: 139,990,792 (GRCm39) |
K564I |
possibly damaging |
Het |
| F5 |
A |
G |
1: 164,021,470 (GRCm39) |
N1315S |
probably benign |
Het |
| Fubp1 |
A |
T |
3: 151,926,153 (GRCm39) |
M292L |
probably damaging |
Het |
| Gabrb2 |
A |
T |
11: 42,378,200 (GRCm39) |
M139L |
possibly damaging |
Het |
| Gk5 |
T |
A |
9: 96,015,469 (GRCm39) |
V95D |
probably benign |
Het |
| Glcci1 |
C |
A |
6: 8,537,826 (GRCm39) |
P148Q |
possibly damaging |
Het |
| Gm19410 |
A |
T |
8: 36,282,629 (GRCm39) |
S1952C |
possibly damaging |
Het |
| Gstm4 |
T |
C |
3: 107,952,049 (GRCm39) |
|
probably benign |
Het |
| Heatr1 |
T |
A |
13: 12,436,227 (GRCm39) |
L1211Q |
probably damaging |
Het |
| Helz2 |
A |
G |
2: 180,876,457 (GRCm39) |
S1346P |
possibly damaging |
Het |
| Hexb |
A |
C |
13: 97,325,836 (GRCm39) |
V158G |
probably damaging |
Het |
| Hipk3 |
T |
C |
2: 104,301,439 (GRCm39) |
E251G |
probably damaging |
Het |
| Hps5 |
T |
C |
7: 46,438,370 (GRCm39) |
Y89C |
probably damaging |
Het |
| Iqub |
A |
T |
6: 24,450,766 (GRCm39) |
V611D |
possibly damaging |
Het |
| Itgbl1 |
G |
A |
14: 124,094,970 (GRCm39) |
D332N |
probably benign |
Het |
| Krtap26-1 |
C |
A |
16: 88,444,609 (GRCm39) |
R4L |
unknown |
Het |
| Lgi3 |
A |
G |
14: 70,772,193 (GRCm39) |
Y246C |
probably damaging |
Het |
| Mug2 |
T |
A |
6: 122,052,248 (GRCm39) |
I1002N |
probably damaging |
Het |
| Myo18a |
C |
T |
11: 77,749,847 (GRCm39) |
T66M |
|
Het |
| Naip6 |
T |
C |
13: 100,436,390 (GRCm39) |
D711G |
possibly damaging |
Het |
| Or4f59 |
C |
A |
2: 111,873,095 (GRCm39) |
C94F |
probably damaging |
Het |
| Orc5 |
T |
A |
5: 22,752,944 (GRCm39) |
Q48L |
probably benign |
Het |
| Oxct2a |
C |
A |
4: 123,216,461 (GRCm39) |
A307S |
probably damaging |
Het |
| Pgls |
T |
C |
8: 72,048,833 (GRCm39) |
*258Q |
probably null |
Het |
| Plekha6 |
C |
T |
1: 133,220,171 (GRCm39) |
R955W |
probably damaging |
Het |
| Polr1c |
G |
T |
17: 46,556,633 (GRCm39) |
N97K |
probably damaging |
Het |
| Prr27 |
C |
A |
5: 87,990,994 (GRCm39) |
P202Q |
probably benign |
Het |
| Prtg |
T |
C |
9: 72,764,159 (GRCm39) |
V544A |
probably benign |
Het |
| Rbl2 |
G |
A |
8: 91,828,006 (GRCm39) |
G574S |
probably damaging |
Het |
| Scamp1 |
T |
A |
13: 94,344,682 (GRCm39) |
T272S |
possibly damaging |
Het |
| Sun2 |
T |
A |
15: 79,611,737 (GRCm39) |
D562V |
probably damaging |
Het |
| Szt2 |
A |
G |
4: 118,242,288 (GRCm39) |
F1565S |
probably damaging |
Het |
| Tatdn2 |
C |
T |
6: 113,687,125 (GRCm39) |
R779C |
probably benign |
Het |
| Tbc1d30 |
T |
C |
10: 121,111,639 (GRCm39) |
I430V |
probably benign |
Het |
| Tmem86b |
T |
C |
7: 4,632,725 (GRCm39) |
D43G |
probably damaging |
Het |
| Tnrc18 |
T |
C |
5: 142,773,488 (GRCm39) |
N447S |
|
Het |
| Trmt2a |
T |
C |
16: 18,069,033 (GRCm39) |
S292P |
probably benign |
Het |
| Trpc2 |
T |
C |
7: 101,737,492 (GRCm39) |
V428A |
probably damaging |
Het |
| Ucp1 |
G |
T |
8: 84,017,272 (GRCm39) |
G21* |
probably null |
Het |
| Utrn |
T |
C |
10: 12,490,318 (GRCm39) |
T21A |
probably benign |
Het |
| Vapa |
A |
T |
17: 65,900,507 (GRCm39) |
N88K |
probably damaging |
Het |
| Wasl |
T |
C |
6: 24,664,615 (GRCm39) |
R10G |
probably damaging |
Het |
| Zan |
C |
A |
5: 137,391,810 (GRCm39) |
V4662F |
unknown |
Het |
| Zap70 |
G |
A |
1: 36,818,832 (GRCm39) |
M382I |
possibly damaging |
Het |
| Zdhhc17 |
T |
C |
10: 110,780,281 (GRCm39) |
I624M |
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 |
|
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 |
|
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'- CTTGTATGTGCAGGCTCTCAGC -3'
(R):5'- ATGCATGCATTGAGCTTTGGC -3'
Sequencing Primer
(F):5'- AGGCTCTCAGCTCCTGAAG -3'
(R):5'- CTCCTGGTGGTAGGTGACTC -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation