Incidental Mutation 'R1541:Tsc2'
| ID |
171767 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tsc2
|
| Ensembl Gene |
ENSMUSG00000002496 |
| Gene Name |
TSC complex subunit 2 |
| Synonyms |
tuberin, Nafld, tuberous sclerosis 2 |
| MMRRC Submission |
039580-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1541 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
24814790-24851604 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 24850950 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Asparagine
at position 36
(T36N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154706
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047611]
[ENSMUST00000097373]
[ENSMUST00000226284]
[ENSMUST00000226398]
[ENSMUST00000227509]
[ENSMUST00000227607]
[ENSMUST00000227745]
[ENSMUST00000228412]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047611
|
| SMART Domains |
Protein: ENSMUSP00000047413
Gene: ENSMUSG00000041429
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
20 |
N/A |
INTRINSIC |
|
low complexity region
|
24 |
37 |
N/A |
INTRINSIC |
|
low complexity region
|
55 |
68 |
N/A |
INTRINSIC |
|
ENDO3c
|
126 |
276 |
1.06e-58 |
SMART |
|
FES
|
277 |
297 |
4.82e-3 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000097373
AA Change: T36N
PolyPhen 2
Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000094986
Gene: ENSMUSG00000002496
AA Change: T36N
| 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: T36N
PolyPhen 2
Score 0.874 (Sensitivity: 0.83; Specificity: 0.93)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000226398
AA Change: T36N
PolyPhen 2
Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227509
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227607
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000227745
AA Change: T36N
PolyPhen 2
Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000228412
AA Change: T36N
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227754
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.3%
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acod1 |
A |
G |
14: 103,286,769 (GRCm39) |
D24G |
probably damaging |
Het |
| Angptl2 |
G |
A |
2: 33,136,177 (GRCm39) |
R454H |
probably benign |
Het |
| Atat1 |
T |
A |
17: 36,215,223 (GRCm39) |
N181I |
probably damaging |
Het |
| Atp6v0d2 |
A |
C |
4: 19,910,645 (GRCm39) |
F82V |
probably damaging |
Het |
| Calhm4 |
T |
C |
10: 33,917,659 (GRCm39) |
H264R |
probably benign |
Het |
| Casp3 |
A |
G |
8: 47,087,369 (GRCm39) |
I105M |
probably benign |
Het |
| Ccdc33 |
T |
A |
9: 58,024,749 (GRCm39) |
D159V |
probably damaging |
Het |
| Cd163 |
A |
C |
6: 124,304,920 (GRCm39) |
D1099A |
probably benign |
Het |
| Cep128 |
A |
T |
12: 91,315,555 (GRCm39) |
S110R |
probably damaging |
Het |
| Cfap43 |
A |
T |
19: 47,752,291 (GRCm39) |
|
probably null |
Het |
| Cfap58 |
T |
C |
19: 47,971,969 (GRCm39) |
I633T |
probably damaging |
Het |
| Clvs1 |
A |
G |
4: 9,281,814 (GRCm39) |
H86R |
probably benign |
Het |
| Comt |
T |
C |
16: 18,230,565 (GRCm39) |
K48R |
probably benign |
Het |
| Crip2 |
T |
C |
12: 113,108,586 (GRCm39) |
V64A |
possibly damaging |
Het |
| Cstdc5 |
T |
A |
16: 36,187,863 (GRCm39) |
M1L |
probably damaging |
Het |
| Cwf19l2 |
T |
A |
9: 3,456,760 (GRCm39) |
S698T |
probably damaging |
Het |
| Dis3l |
T |
C |
9: 64,214,771 (GRCm39) |
I933V |
probably benign |
Het |
| Dnah8 |
C |
A |
17: 30,966,221 (GRCm39) |
N2470K |
probably damaging |
Het |
| Dstn |
T |
C |
2: 143,780,408 (GRCm39) |
V36A |
possibly damaging |
Het |
| Dtx1 |
T |
A |
5: 120,848,411 (GRCm39) |
|
probably benign |
Het |
| Dzip1 |
G |
A |
14: 119,116,890 (GRCm39) |
S782L |
probably damaging |
Het |
| Ece1 |
T |
A |
4: 137,675,971 (GRCm39) |
|
probably null |
Het |
| Erich1 |
A |
G |
8: 14,080,688 (GRCm39) |
I277T |
probably damaging |
Het |
| Gbp4 |
T |
A |
5: 105,266,275 (GRCm39) |
M589L |
probably benign |
Het |
| Grip1 |
T |
C |
10: 119,836,448 (GRCm39) |
I440T |
probably damaging |
Het |
| Helz |
C |
T |
11: 107,560,874 (GRCm39) |
S1311L |
probably benign |
Het |
| Herc2 |
A |
T |
7: 55,785,405 (GRCm39) |
I1552F |
probably damaging |
Het |
| Kif13a |
T |
C |
13: 46,962,689 (GRCm39) |
T459A |
probably benign |
Het |
| Knop1 |
G |
A |
7: 118,455,009 (GRCm39) |
|
probably benign |
Het |
| Llgl2 |
C |
A |
11: 115,743,947 (GRCm39) |
T758K |
probably benign |
Het |
| Lonrf2 |
G |
A |
1: 38,852,357 (GRCm39) |
P165S |
probably benign |
Het |
| Lrrc71 |
T |
C |
3: 87,649,148 (GRCm39) |
D340G |
possibly damaging |
Het |
| Luzp1 |
A |
G |
4: 136,270,636 (GRCm39) |
D953G |
probably damaging |
Het |
| Mst1r |
T |
C |
9: 107,794,562 (GRCm39) |
V1247A |
probably damaging |
Het |
| Ncoa4 |
A |
T |
14: 31,898,845 (GRCm39) |
K555M |
probably damaging |
Het |
| Ncoa6 |
A |
T |
2: 155,257,224 (GRCm39) |
L773Q |
probably benign |
Het |
| Ndc1 |
C |
T |
4: 107,228,485 (GRCm39) |
Q70* |
probably null |
Het |
| Nfe2l3 |
C |
T |
6: 51,434,585 (GRCm39) |
L382F |
probably damaging |
Het |
| Nlrp4b |
C |
A |
7: 10,458,979 (GRCm39) |
T399N |
possibly damaging |
Het |
| Nsmce2 |
T |
A |
15: 59,473,234 (GRCm39) |
D250E |
probably damaging |
Het |
| Nudt14 |
A |
T |
12: 112,898,548 (GRCm39) |
L184Q |
probably damaging |
Het |
| Ogdhl |
G |
A |
14: 32,062,624 (GRCm39) |
R570H |
possibly damaging |
Het |
| Or5p56 |
T |
C |
7: 107,590,048 (GRCm39) |
F159L |
probably benign |
Het |
| Pira13 |
T |
C |
7: 3,819,988 (GRCm39) |
D525G |
probably damaging |
Het |
| Plag1 |
A |
G |
4: 3,904,085 (GRCm39) |
S369P |
probably benign |
Het |
| Ranbp2 |
A |
T |
10: 58,318,916 (GRCm39) |
T2476S |
possibly damaging |
Het |
| Rnmt |
T |
C |
18: 68,440,853 (GRCm39) |
L172P |
probably damaging |
Het |
| Sec24a |
T |
A |
11: 51,634,623 (GRCm39) |
H101L |
probably benign |
Het |
| Sirpd |
T |
A |
3: 15,385,744 (GRCm39) |
T53S |
possibly damaging |
Het |
| Srm |
A |
G |
4: 148,677,881 (GRCm39) |
D173G |
probably damaging |
Het |
| Srp54b |
A |
G |
12: 55,302,844 (GRCm39) |
D380G |
probably benign |
Het |
| Svs5 |
C |
T |
2: 164,078,929 (GRCm39) |
R326Q |
possibly damaging |
Het |
| Tent4b |
T |
C |
8: 88,972,227 (GRCm39) |
V222A |
probably damaging |
Het |
| Tfap2b |
C |
T |
1: 19,304,294 (GRCm39) |
T350M |
probably damaging |
Het |
| Tie1 |
A |
T |
4: 118,341,070 (GRCm39) |
C304S |
probably damaging |
Het |
| Wdhd1 |
A |
T |
14: 47,505,649 (GRCm39) |
Y274* |
probably null |
Het |
| Wdr37 |
T |
C |
13: 8,870,574 (GRCm39) |
T373A |
probably benign |
Het |
| Xirp2 |
A |
T |
2: 67,342,634 (GRCm39) |
N1625I |
possibly damaging |
Het |
| Ythdf1 |
A |
C |
2: 180,560,936 (GRCm39) |
S35A |
probably damaging |
Het |
| Zfp462 |
A |
G |
4: 55,008,928 (GRCm39) |
N298S |
possibly damaging |
Het |
| Zfp541 |
T |
A |
7: 15,812,437 (GRCm39) |
D363E |
probably benign |
Het |
| Zgpat |
A |
G |
2: 181,020,658 (GRCm39) |
D277G |
probably benign |
Het |
| Znfx1 |
A |
T |
2: 166,898,110 (GRCm39) |
N271K |
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 |
|
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 |
|
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'- CAGCAGCCCTATGCAGATGGTTAC -3'
(R):5'- AATGGCAATCAACAGGCGGGTC -3'
Sequencing Primer
(F):5'- TATGCAGATGGTTACCAGCAAC -3'
(R):5'- GAAGGACAGGTTATTGCCTACCC -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation