Incidental Mutation 'R7026:Tsc2'
ID |
545996 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tsc2
|
Ensembl Gene |
ENSMUSG00000002496 |
Gene Name |
TSC complex subunit 2 |
Synonyms |
tuberin, Nafld, tuberous sclerosis 2 |
MMRRC Submission |
045127-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7026 (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 G
at 24845713 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Leucine
at position 202
(I202L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153869
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097373]
[ENSMUST00000226284]
[ENSMUST00000226398]
[ENSMUST00000227607]
[ENSMUST00000227745]
[ENSMUST00000228412]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000097373
AA Change: I202L
PolyPhen 2
Score 0.584 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000094986 Gene: ENSMUSG00000002496 AA Change: I202L
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: I202L
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000226398
AA Change: I202L
PolyPhen 2
Score 0.584 (Sensitivity: 0.88; Specificity: 0.91)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000227607
AA Change: I143L
PolyPhen 2
Score 0.584 (Sensitivity: 0.88; Specificity: 0.91)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000227745
AA Change: I202L
PolyPhen 2
Score 0.263 (Sensitivity: 0.91; Specificity: 0.88)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228412
AA Change: I202L
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
Meta Mutation Damage Score |
0.1763 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
99% (69/70) |
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: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc2 |
A |
T |
19: 43,805,392 (GRCm39) |
M749L |
probably benign |
Het |
Abcc2 |
A |
G |
19: 43,818,974 (GRCm39) |
N1321S |
probably benign |
Het |
Acsm2 |
T |
A |
7: 119,191,450 (GRCm39) |
V506E |
probably damaging |
Het |
Add2 |
G |
A |
6: 86,063,965 (GRCm39) |
R88Q |
probably benign |
Het |
Adgra3 |
A |
G |
5: 50,118,083 (GRCm39) |
V1155A |
probably benign |
Het |
Ahsg |
T |
A |
16: 22,710,963 (GRCm39) |
D33E |
probably damaging |
Het |
Alox12b |
A |
T |
11: 69,048,131 (GRCm39) |
D20V |
possibly damaging |
Het |
Alppl2 |
A |
G |
1: 87,017,420 (GRCm39) |
|
probably null |
Het |
Ankfn1 |
A |
G |
11: 89,530,403 (GRCm39) |
*49Q |
probably null |
Het |
Bcl11b |
T |
C |
12: 107,882,851 (GRCm39) |
D488G |
probably damaging |
Het |
Bcl2l10 |
T |
A |
9: 75,258,364 (GRCm39) |
F175L |
probably benign |
Het |
C2cd3 |
T |
A |
7: 100,081,299 (GRCm39) |
D127E |
probably damaging |
Het |
Cacna1c |
C |
T |
6: 118,614,732 (GRCm39) |
V1311I |
probably damaging |
Het |
Cd55b |
A |
T |
1: 130,316,427 (GRCm39) |
I374K |
probably benign |
Het |
Cfap36 |
T |
C |
11: 29,172,565 (GRCm39) |
T267A |
probably benign |
Het |
Cibar2 |
G |
A |
8: 120,895,324 (GRCm39) |
H193Y |
probably damaging |
Het |
Cog1 |
T |
C |
11: 113,540,415 (GRCm39) |
L10P |
probably damaging |
Het |
Dnah7a |
T |
A |
1: 53,543,448 (GRCm39) |
M2241L |
probably benign |
Het |
Dock10 |
G |
T |
1: 80,479,504 (GRCm39) |
A1809E |
probably benign |
Het |
Dock7 |
A |
T |
4: 98,967,156 (GRCm39) |
D255E |
probably benign |
Het |
Exph5 |
T |
C |
9: 53,251,728 (GRCm39) |
F123L |
probably benign |
Het |
Fbxw27 |
C |
A |
9: 109,617,146 (GRCm39) |
K118N |
possibly damaging |
Het |
Fscb |
C |
A |
12: 64,518,391 (GRCm39) |
S1025I |
unknown |
Het |
Get4 |
C |
T |
5: 139,238,358 (GRCm39) |
R47W |
possibly damaging |
Het |
Gm3676 |
G |
A |
14: 41,366,072 (GRCm39) |
S81F |
probably benign |
Het |
Gulp1 |
C |
T |
1: 44,820,245 (GRCm39) |
P251S |
possibly damaging |
Het |
Hhatl |
T |
C |
9: 121,617,339 (GRCm39) |
D298G |
probably benign |
Het |
Hsf2bp |
T |
A |
17: 32,252,254 (GRCm39) |
K60N |
possibly damaging |
Het |
Ints4 |
T |
A |
7: 97,168,361 (GRCm39) |
V625D |
possibly damaging |
Het |
Iqch |
T |
A |
9: 63,432,421 (GRCm39) |
K286* |
probably null |
Het |
Irak1bp1 |
T |
A |
9: 82,712,084 (GRCm39) |
S2T |
possibly damaging |
Het |
Kdm3b |
G |
A |
18: 34,955,517 (GRCm39) |
V1135I |
possibly damaging |
Het |
Lama3 |
C |
A |
18: 12,649,605 (GRCm39) |
N181K |
probably damaging |
Het |
Lrfn2 |
T |
G |
17: 49,404,005 (GRCm39) |
S709R |
probably benign |
Het |
Lrp12 |
T |
C |
15: 39,743,566 (GRCm39) |
H123R |
probably damaging |
Het |
Lrp1b |
A |
G |
2: 41,159,234 (GRCm39) |
S1569P |
probably damaging |
Het |
Lrp2 |
T |
G |
2: 69,352,131 (GRCm39) |
Q635P |
probably damaging |
Het |
Mboat2 |
T |
C |
12: 24,998,381 (GRCm39) |
|
probably null |
Het |
Mctp1 |
A |
G |
13: 76,954,378 (GRCm39) |
T596A |
probably benign |
Het |
Mroh9 |
T |
A |
1: 162,888,251 (GRCm39) |
M275L |
probably benign |
Het |
Ms4a10 |
A |
C |
19: 10,944,869 (GRCm39) |
|
probably null |
Het |
Myo9a |
C |
T |
9: 59,722,617 (GRCm39) |
R560C |
probably damaging |
Het |
Or11h4b |
A |
G |
14: 50,918,716 (GRCm39) |
I125T |
probably damaging |
Het |
Or5b107 |
A |
G |
19: 13,142,779 (GRCm39) |
T134A |
probably benign |
Het |
Or6z1 |
T |
A |
7: 6,504,820 (GRCm39) |
H135L |
probably damaging |
Het |
Ormdl3 |
A |
G |
11: 98,474,808 (GRCm39) |
V45A |
possibly damaging |
Het |
Parp4 |
T |
C |
14: 56,858,049 (GRCm39) |
Y894H |
probably benign |
Het |
Pigo |
G |
A |
4: 43,023,380 (GRCm39) |
Q259* |
probably null |
Het |
Prrc2a |
G |
A |
17: 35,380,803 (GRCm39) |
P70S |
unknown |
Het |
Rab3ip |
A |
G |
10: 116,773,441 (GRCm39) |
I124T |
probably benign |
Het |
Rap1b |
A |
G |
10: 117,654,384 (GRCm39) |
I21T |
probably benign |
Het |
Rasgrf2 |
T |
A |
13: 92,131,732 (GRCm39) |
S642C |
probably damaging |
Het |
Rb1 |
T |
C |
14: 73,535,539 (GRCm39) |
E106G |
probably benign |
Het |
Reps1 |
C |
A |
10: 17,983,437 (GRCm39) |
R427S |
probably damaging |
Het |
Rnf213 |
A |
C |
11: 119,370,481 (GRCm39) |
H4760P |
possibly damaging |
Het |
Rtl1 |
A |
G |
12: 109,559,595 (GRCm39) |
I748T |
probably damaging |
Het |
Sco1 |
A |
T |
11: 66,944,683 (GRCm39) |
K102M |
probably damaging |
Het |
Sec16b |
T |
C |
1: 157,362,281 (GRCm39) |
M44T |
possibly damaging |
Het |
Slc7a10 |
T |
C |
7: 34,898,139 (GRCm39) |
M297T |
probably damaging |
Het |
Smchd1 |
T |
C |
17: 71,656,662 (GRCm39) |
H1935R |
probably benign |
Het |
Sowaha |
G |
A |
11: 53,370,050 (GRCm39) |
R229W |
probably damaging |
Het |
Sptlc3 |
A |
T |
2: 139,379,608 (GRCm39) |
M83L |
probably benign |
Het |
Tbc1d9 |
T |
C |
8: 83,968,192 (GRCm39) |
V431A |
probably benign |
Het |
Tmem98 |
A |
G |
11: 80,712,214 (GRCm39) |
E217G |
possibly damaging |
Het |
Trim13 |
T |
A |
14: 61,842,562 (GRCm39) |
L193* |
probably null |
Het |
Trp53bp2 |
T |
C |
1: 182,270,300 (GRCm39) |
S367P |
probably benign |
Het |
Twf2 |
T |
A |
9: 106,092,079 (GRCm39) |
V312E |
probably damaging |
Het |
Usp34 |
G |
T |
11: 23,311,622 (GRCm39) |
L471F |
probably damaging |
Het |
Vps37c |
A |
G |
19: 10,683,632 (GRCm39) |
D18G |
probably damaging |
Het |
Zfp1010 |
T |
A |
2: 176,957,361 (GRCm39) |
I46F |
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 |
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'- TATGCAGAGCACCCAACTGTC -3'
(R):5'- AAGCCATCTTGAGATCTCAGTGG -3'
Sequencing Primer
(F):5'- TGTCCTGACAGTACATGCCTACAG -3'
(R):5'- CATCTTGAGATCTCAGTGGAAGCAG -3'
|
Posted On |
2019-05-13 |