Incidental Mutation 'R7236:Tsc2'
ID |
562854 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tsc2
|
Ensembl Gene |
ENSMUSG00000002496 |
Gene Name |
TSC complex subunit 2 |
Synonyms |
tuberin, Nafld, tuberous sclerosis 2 |
MMRRC Submission |
045306-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7236 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
24814790-24851604 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 24842568 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 286
(M286K)
|
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 |
possibly damaging
Transcript: ENSMUST00000097373
AA Change: M286K
PolyPhen 2
Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000094986 Gene: ENSMUSG00000002496 AA Change: M286K
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 |
possibly damaging
Transcript: ENSMUST00000226284
AA Change: M286K
PolyPhen 2
Score 0.785 (Sensitivity: 0.85; Specificity: 0.93)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000226398
AA Change: M286K
PolyPhen 2
Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000227607
AA Change: M227K
PolyPhen 2
Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000227745
AA Change: M286K
PolyPhen 2
Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228412
AA Change: M286K
PolyPhen 2
Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
100% (66/66) |
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: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actn3 |
C |
T |
19: 4,921,644 (GRCm39) |
V179I |
probably benign |
Het |
Adra1b |
A |
G |
11: 43,667,151 (GRCm39) |
I362T |
possibly damaging |
Het |
B3galnt1 |
T |
C |
3: 69,482,950 (GRCm39) |
K104E |
probably benign |
Het |
Bnc2 |
T |
C |
4: 84,474,101 (GRCm39) |
Y15C |
probably benign |
Het |
C2cd2l |
C |
A |
9: 44,228,960 (GRCm39) |
A124S |
possibly damaging |
Het |
Camsap3 |
T |
A |
8: 3,654,116 (GRCm39) |
F595L |
probably damaging |
Het |
Cct2 |
A |
T |
10: 116,897,464 (GRCm39) |
D93E |
probably benign |
Het |
Cd200l2 |
A |
T |
16: 45,348,030 (GRCm39) |
I169N |
possibly damaging |
Het |
Cemip |
A |
T |
7: 83,598,012 (GRCm39) |
|
probably null |
Het |
Ciapin1 |
T |
C |
8: 95,550,338 (GRCm39) |
T34A |
|
Het |
Dop1a |
G |
A |
9: 86,397,431 (GRCm39) |
V912I |
probably damaging |
Het |
Efcab3 |
A |
T |
11: 104,790,093 (GRCm39) |
Q2832L |
probably benign |
Het |
Eif3c |
T |
C |
7: 126,151,495 (GRCm39) |
T610A |
possibly damaging |
Het |
Ephb3 |
A |
G |
16: 21,033,231 (GRCm39) |
R106G |
probably damaging |
Het |
Ephx3 |
T |
A |
17: 32,404,328 (GRCm39) |
|
probably null |
Het |
Etv2 |
A |
T |
7: 30,334,455 (GRCm39) |
S93T |
probably benign |
Het |
Fbxo34 |
T |
A |
14: 47,767,841 (GRCm39) |
D451E |
probably benign |
Het |
Fmo9 |
A |
G |
1: 166,504,140 (GRCm39) |
F141L |
probably damaging |
Het |
Fryl |
T |
C |
5: 73,265,821 (GRCm39) |
K500R |
possibly damaging |
Het |
Gfra3 |
T |
C |
18: 34,828,884 (GRCm39) |
D170G |
probably damaging |
Het |
Gnptg |
T |
C |
17: 25,458,897 (GRCm39) |
N34S |
possibly damaging |
Het |
Golga5 |
T |
A |
12: 102,441,034 (GRCm39) |
|
probably null |
Het |
Herc2 |
G |
T |
7: 55,734,828 (GRCm39) |
L139F |
probably benign |
Het |
Ikzf2 |
T |
A |
1: 69,578,240 (GRCm39) |
N423I |
probably benign |
Het |
Il31ra |
A |
T |
13: 112,660,439 (GRCm39) |
*717R |
probably null |
Het |
Itga2 |
G |
T |
13: 115,014,227 (GRCm39) |
Q234K |
probably benign |
Het |
Kcnt1 |
A |
T |
2: 25,799,951 (GRCm39) |
|
probably null |
Het |
Kif19b |
G |
T |
5: 140,457,400 (GRCm39) |
A390S |
probably benign |
Het |
Man2a2 |
T |
C |
7: 80,018,653 (GRCm39) |
S69G |
probably damaging |
Het |
Mccc1 |
A |
G |
3: 36,037,944 (GRCm39) |
V294A |
probably benign |
Het |
Mphosph8 |
T |
A |
14: 56,911,754 (GRCm39) |
I259K |
possibly damaging |
Het |
Mrpl15 |
A |
T |
1: 4,846,711 (GRCm39) |
N288K |
probably benign |
Het |
Msantd2 |
T |
C |
9: 37,400,965 (GRCm39) |
W116R |
probably damaging |
Het |
Msantd5f9 |
G |
T |
4: 73,835,808 (GRCm39) |
L219M |
probably benign |
Het |
Mtmr10 |
T |
C |
7: 63,963,932 (GRCm39) |
|
probably benign |
Het |
Mylk |
A |
T |
16: 34,742,899 (GRCm39) |
D1137V |
probably damaging |
Het |
Nhsl1 |
A |
G |
10: 18,401,512 (GRCm39) |
K879E |
probably damaging |
Het |
Or8j3c |
A |
T |
2: 86,253,533 (GRCm39) |
C162* |
probably null |
Het |
Pak6 |
A |
G |
2: 118,523,909 (GRCm39) |
T355A |
probably benign |
Het |
Patj |
C |
T |
4: 98,299,294 (GRCm39) |
R139C |
probably damaging |
Het |
Pcdhb3 |
C |
T |
18: 37,434,505 (GRCm39) |
A157V |
probably damaging |
Het |
Phkg1 |
C |
A |
5: 129,895,802 (GRCm39) |
D150Y |
probably damaging |
Het |
Ppp2r5c |
C |
T |
12: 110,432,323 (GRCm39) |
S45L |
probably benign |
Het |
Prl4a1 |
A |
C |
13: 28,202,556 (GRCm39) |
T44P |
probably benign |
Het |
Ptpro |
G |
A |
6: 137,345,335 (GRCm39) |
V114M |
probably damaging |
Het |
Pwp1 |
A |
G |
10: 85,715,147 (GRCm39) |
N211S |
probably benign |
Het |
Ralgapb |
A |
G |
2: 158,282,747 (GRCm39) |
D504G |
probably benign |
Het |
Rock2 |
A |
T |
12: 16,979,003 (GRCm39) |
I98F |
probably damaging |
Het |
Senp6 |
G |
T |
9: 80,040,247 (GRCm39) |
V785L |
probably damaging |
Het |
Simc1 |
A |
G |
13: 54,672,609 (GRCm39) |
D319G |
probably benign |
Het |
Tas2r105 |
A |
T |
6: 131,663,723 (GRCm39) |
I235N |
probably damaging |
Het |
Tas2r110 |
A |
T |
6: 132,845,667 (GRCm39) |
M233L |
possibly damaging |
Het |
Tmem260 |
C |
T |
14: 48,746,647 (GRCm39) |
|
probably null |
Het |
Trank1 |
G |
T |
9: 111,202,142 (GRCm39) |
V1590L |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,697,796 (GRCm39) |
T202A |
|
Het |
Ttyh1 |
A |
G |
7: 4,136,663 (GRCm39) |
N424D |
probably benign |
Het |
Usp24 |
T |
A |
4: 106,263,502 (GRCm39) |
|
probably null |
Het |
Utp20 |
G |
T |
10: 88,585,204 (GRCm39) |
P2620Q |
probably benign |
Het |
Vmn1r45 |
A |
G |
6: 89,910,133 (GRCm39) |
M279T |
probably benign |
Het |
Vmn2r115 |
T |
A |
17: 23,578,576 (GRCm39) |
I683K |
probably benign |
Het |
Vmn2r34 |
T |
C |
7: 7,684,750 (GRCm39) |
K481E |
probably damaging |
Het |
Vmn2r54 |
T |
A |
7: 12,365,917 (GRCm39) |
H339L |
possibly damaging |
Het |
Vmn2r94 |
T |
A |
17: 18,477,811 (GRCm39) |
N200I |
possibly damaging |
Het |
Wdfy3 |
A |
G |
5: 101,984,074 (GRCm39) |
Y3493H |
probably damaging |
Het |
Wdr5b |
A |
G |
16: 35,862,208 (GRCm39) |
D109G |
possibly damaging |
Het |
Zfp286 |
A |
T |
11: 62,674,496 (GRCm39) |
|
probably null |
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 |
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'- GGCAAACCTGATGCAAGCTC -3'
(R):5'- TAACCCATGTGACCAGTAGTG -3'
Sequencing Primer
(F):5'- CTGATGCAAGCTCTCCCAC -3'
(R):5'- TGAAGGAATCACAGTTGCTGCTG -3'
|
Posted On |
2019-06-26 |