Incidental Mutation 'R7781:Tsc2'
| ID |
599265 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tsc2
|
| Ensembl Gene |
ENSMUSG00000002496 |
| Gene Name |
TSC complex subunit 2 |
| Synonyms |
tuberin, Nafld, tuberous sclerosis 2 |
| MMRRC Submission |
045837-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7781 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
24814790-24851604 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 24827089 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 873
(L873F)
|
| 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: L873F
PolyPhen 2
Score 0.521 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000094986
Gene: ENSMUSG00000002496
AA Change: L873F
| 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: L873F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000226398
AA Change: L873F
PolyPhen 2
Score 0.521 (Sensitivity: 0.88; Specificity: 0.90)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000227607
AA Change: L814F
PolyPhen 2
Score 0.521 (Sensitivity: 0.88; Specificity: 0.90)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227658
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000227745
AA Change: L873F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000228412
AA Change: L873F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| 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 |
|---|
| 1700064H15Rik |
G |
A |
3: 19,682,706 (GRCm39) |
P23S |
unknown |
Het |
| Abcc6 |
C |
T |
7: 45,655,030 (GRCm39) |
R487Q |
probably damaging |
Het |
| Abl1 |
A |
T |
2: 31,680,709 (GRCm39) |
T334S |
probably damaging |
Het |
| Adam6b |
T |
C |
12: 113,454,962 (GRCm39) |
F593S |
probably damaging |
Het |
| Alx1 |
A |
T |
10: 102,845,053 (GRCm39) |
M326K |
probably damaging |
Het |
| Ankhd1 |
A |
T |
18: 36,758,258 (GRCm39) |
D984V |
probably damaging |
Het |
| Asb15 |
A |
G |
6: 24,562,644 (GRCm39) |
N202S |
probably benign |
Het |
| Ate1 |
A |
T |
7: 130,121,157 (GRCm39) |
V12E |
probably damaging |
Het |
| Atl2 |
A |
T |
17: 80,167,260 (GRCm39) |
Y254N |
probably damaging |
Het |
| Atp13a5 |
A |
G |
16: 29,116,226 (GRCm39) |
M630T |
probably benign |
Het |
| Atp5po |
A |
T |
16: 91,723,417 (GRCm39) |
I124N |
possibly damaging |
Het |
| BC005537 |
C |
T |
13: 24,987,382 (GRCm39) |
R7W |
possibly damaging |
Het |
| Bicdl1 |
T |
C |
5: 115,799,546 (GRCm39) |
E181G |
probably damaging |
Het |
| Bnipl |
C |
A |
3: 95,151,486 (GRCm39) |
W272L |
probably damaging |
Het |
| Catsperd |
A |
T |
17: 56,971,072 (GRCm39) |
H712L |
probably benign |
Het |
| Cilp2 |
T |
C |
8: 70,334,997 (GRCm39) |
D667G |
possibly damaging |
Het |
| Cntn4 |
A |
C |
6: 106,500,575 (GRCm39) |
K351Q |
probably damaging |
Het |
| Coq7 |
A |
T |
7: 118,125,111 (GRCm39) |
I171N |
probably damaging |
Het |
| Csf2rb |
T |
A |
15: 78,228,771 (GRCm39) |
F371I |
probably benign |
Het |
| Cyp3a13 |
C |
T |
5: 137,897,136 (GRCm39) |
V393M |
possibly damaging |
Het |
| Dennd2a |
A |
G |
6: 39,470,000 (GRCm39) |
V564A |
probably damaging |
Het |
| Ear14 |
T |
C |
14: 51,441,468 (GRCm39) |
L108P |
probably damaging |
Het |
| Egflam |
C |
A |
15: 7,283,227 (GRCm39) |
V277F |
probably null |
Het |
| Epb42 |
T |
G |
2: 120,864,916 (GRCm39) |
K58N |
probably benign |
Het |
| Faap100 |
T |
C |
11: 120,265,089 (GRCm39) |
M596V |
probably benign |
Het |
| Fbxw15 |
T |
A |
9: 109,386,330 (GRCm39) |
T270S |
possibly damaging |
Het |
| Gabpb1 |
C |
T |
2: 126,481,120 (GRCm39) |
C342Y |
possibly damaging |
Het |
| Gls |
A |
T |
1: 52,251,492 (GRCm39) |
C288* |
probably null |
Het |
| Grm8 |
G |
T |
6: 27,285,786 (GRCm39) |
D875E |
probably benign |
Het |
| Hdac4 |
C |
A |
1: 91,903,387 (GRCm39) |
R514L |
probably benign |
Het |
| Hps4 |
T |
A |
5: 112,518,388 (GRCm39) |
N460K |
probably benign |
Het |
| Inpp5d |
T |
C |
1: 87,627,394 (GRCm39) |
F565S |
probably damaging |
Het |
| Kcnh5 |
C |
A |
12: 75,023,455 (GRCm39) |
V538F |
probably damaging |
Het |
| Kcp |
T |
C |
6: 29,497,764 (GRCm39) |
N499S |
probably damaging |
Het |
| Klk15 |
T |
C |
7: 43,588,980 (GRCm39) |
L244S |
probably benign |
Het |
| Lamp3 |
A |
T |
16: 19,518,440 (GRCm39) |
S266T |
possibly damaging |
Het |
| Lemd3 |
A |
G |
10: 120,761,678 (GRCm39) |
F863L |
probably damaging |
Het |
| Mga |
T |
A |
2: 119,747,838 (GRCm39) |
V663D |
probably damaging |
Het |
| Naa15 |
A |
G |
3: 51,378,904 (GRCm39) |
|
probably null |
Het |
| Ndrg3 |
C |
A |
2: 156,770,733 (GRCm39) |
G352* |
probably null |
Het |
| Nr2f6 |
G |
T |
8: 71,828,595 (GRCm39) |
N233K |
possibly damaging |
Het |
| Or4a79 |
A |
G |
2: 89,551,879 (GRCm39) |
F192S |
probably benign |
Het |
| Plxnb2 |
T |
A |
15: 89,041,225 (GRCm39) |
M1774L |
possibly damaging |
Het |
| Repin1 |
G |
T |
6: 48,574,279 (GRCm39) |
E403* |
probably null |
Het |
| Rpl23a |
G |
A |
11: 78,073,654 (GRCm39) |
R62W |
probably benign |
Het |
| Rubcnl |
A |
G |
14: 75,269,530 (GRCm39) |
R63G |
probably damaging |
Het |
| Ryr1 |
T |
C |
7: 28,767,055 (GRCm39) |
D2976G |
probably damaging |
Het |
| Siglec1 |
A |
G |
2: 130,923,258 (GRCm39) |
Y496H |
probably damaging |
Het |
| Sipa1l2 |
A |
G |
8: 126,218,566 (GRCm39) |
V257A |
possibly damaging |
Het |
| Slc24a4 |
T |
C |
12: 102,201,112 (GRCm39) |
|
probably null |
Het |
| Slc4a1ap |
T |
C |
5: 31,684,822 (GRCm39) |
S153P |
probably damaging |
Het |
| Slc4a4 |
A |
T |
5: 89,376,791 (GRCm39) |
E1006V |
possibly damaging |
Het |
| Svep1 |
T |
G |
4: 58,069,251 (GRCm39) |
E2845A |
possibly damaging |
Het |
| Tlr1 |
T |
C |
5: 65,084,079 (GRCm39) |
N166S |
possibly damaging |
Het |
| Tmem231 |
C |
T |
8: 112,644,922 (GRCm39) |
|
probably null |
Het |
| Unc13b |
T |
G |
4: 43,259,546 (GRCm39) |
S1403A |
possibly damaging |
Het |
| Vmn1r7 |
A |
G |
6: 57,001,553 (GRCm39) |
F236L |
probably benign |
Het |
| Vmn2r111 |
T |
C |
17: 22,789,714 (GRCm39) |
S431G |
probably benign |
Het |
| Wdr7 |
A |
T |
18: 63,910,860 (GRCm39) |
K751* |
probably null |
Het |
| Wdr90 |
C |
T |
17: 26,065,300 (GRCm39) |
R1652Q |
probably damaging |
Het |
| Zcchc2 |
T |
C |
1: 105,931,895 (GRCm39) |
Y366H |
probably damaging |
Het |
| Zfp1005 |
A |
T |
2: 150,109,577 (GRCm39) |
H89L |
possibly damaging |
Het |
| Zfp607a |
C |
T |
7: 27,565,000 (GRCm39) |
R56C |
possibly 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 |
|
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 |
|
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'- CCATCATGAGGCTCAAGAGAC -3'
(R):5'- ATAGCCGCCCTGACTTTTG -3'
Sequencing Primer
(F):5'- AGACAGGATTTCTCAGTGTAGCCC -3'
(R):5'- ACTTTTGGGACTGGAGCAC -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation