Incidental Mutation 'R7136:Tsc2'
ID |
553103 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tsc2
|
Ensembl Gene |
ENSMUSG00000002496 |
Gene Name |
TSC complex subunit 2 |
Synonyms |
tuberin, Nafld, tuberous sclerosis 2 |
MMRRC Submission |
045220-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7136 (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 C
at 24832254 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Glycine
at position 711
(S711G)
|
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 benign
Transcript: ENSMUST00000097373
AA Change: S711G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000094986 Gene: ENSMUSG00000002496 AA Change: S711G
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 benign
Transcript: ENSMUST00000226284
AA Change: S711G
PolyPhen 2
Score 0.130 (Sensitivity: 0.93; Specificity: 0.86)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000226398
AA Change: S711G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000227607
AA Change: S652G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000227745
AA Change: S711G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228412
AA Change: S711G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (68/68) |
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: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700123K08Rik |
A |
G |
5: 138,560,610 (GRCm39) |
S262P |
probably damaging |
Het |
Abcc2 |
A |
G |
19: 43,825,899 (GRCm39) |
E1512G |
probably damaging |
Het |
Abcg2 |
T |
G |
6: 58,661,325 (GRCm39) |
Y459D |
possibly damaging |
Het |
Amy1 |
T |
C |
3: 113,357,248 (GRCm39) |
Y197C |
probably damaging |
Het |
Bptf |
A |
G |
11: 106,990,541 (GRCm39) |
I516T |
probably damaging |
Het |
Capn12 |
T |
A |
7: 28,582,532 (GRCm39) |
|
probably null |
Het |
Cbln2 |
T |
A |
18: 86,734,797 (GRCm39) |
L190Q |
probably damaging |
Het |
Ccdc157 |
C |
T |
11: 4,098,592 (GRCm39) |
E305K |
possibly damaging |
Het |
Ccdc47 |
A |
G |
11: 106,095,830 (GRCm39) |
S289P |
probably benign |
Het |
Chd3 |
C |
T |
11: 69,239,264 (GRCm39) |
E1756K |
probably null |
Het |
Chrd |
G |
T |
16: 20,553,272 (GRCm39) |
A183S |
possibly damaging |
Het |
Cp |
C |
T |
3: 20,039,822 (GRCm39) |
R880* |
probably null |
Het |
Cyp24a1 |
A |
T |
2: 170,336,063 (GRCm39) |
D191E |
probably benign |
Het |
Dnah1 |
T |
C |
14: 31,020,613 (GRCm39) |
Y1252C |
probably damaging |
Het |
Eps8l1 |
A |
G |
7: 4,480,403 (GRCm39) |
D487G |
probably damaging |
Het |
Fam227b |
T |
G |
2: 125,965,948 (GRCm39) |
Q159P |
probably damaging |
Het |
Fat3 |
A |
G |
9: 16,289,481 (GRCm39) |
I14T |
probably benign |
Het |
Fbxl19 |
C |
A |
7: 127,349,217 (GRCm39) |
T129N |
possibly damaging |
Het |
Fuca2 |
T |
C |
10: 13,381,665 (GRCm39) |
F193L |
probably benign |
Het |
H2-Q1 |
T |
C |
17: 35,539,603 (GRCm39) |
|
probably null |
Het |
Hgh1 |
A |
G |
15: 76,254,631 (GRCm39) |
M336V |
probably benign |
Het |
Il12b |
T |
C |
11: 44,298,857 (GRCm39) |
L104P |
probably benign |
Het |
Kcnh2 |
A |
T |
5: 24,537,989 (GRCm39) |
F125I |
probably benign |
Het |
Kcnk7 |
A |
G |
19: 5,756,104 (GRCm39) |
H110R |
probably benign |
Het |
Kdm3a |
G |
A |
6: 71,588,764 (GRCm39) |
P415L |
probably benign |
Het |
Kifc3 |
T |
C |
8: 95,830,077 (GRCm39) |
T610A |
probably benign |
Het |
Krbox5 |
A |
G |
13: 67,991,111 (GRCm39) |
|
probably null |
Het |
Lmbr1l |
C |
A |
15: 98,809,372 (GRCm39) |
|
probably null |
Het |
Lmo7 |
T |
A |
14: 102,157,975 (GRCm39) |
M1436K |
unknown |
Het |
Lrp1 |
C |
T |
10: 127,394,491 (GRCm39) |
C2574Y |
probably damaging |
Het |
Med13l |
A |
G |
5: 118,859,587 (GRCm39) |
E258G |
possibly damaging |
Het |
Mesp1 |
T |
C |
7: 79,442,906 (GRCm39) |
I124V |
probably damaging |
Het |
Mrgpra2a |
A |
T |
7: 47,076,934 (GRCm39) |
I108N |
probably benign |
Het |
Nos1 |
G |
T |
5: 118,033,925 (GRCm39) |
R349L |
possibly damaging |
Het |
Or5k3 |
C |
T |
16: 58,969,327 (GRCm39) |
T38I |
probably damaging |
Het |
Or7c70 |
T |
C |
10: 78,683,615 (GRCm39) |
I45V |
probably benign |
Het |
Osgin1 |
T |
A |
8: 120,168,176 (GRCm39) |
M1K |
probably null |
Het |
Pde4dip |
C |
T |
3: 97,601,379 (GRCm39) |
S2346N |
probably benign |
Het |
Pde7a |
T |
C |
3: 19,285,258 (GRCm39) |
M310V |
probably benign |
Het |
Pigw |
G |
A |
11: 84,768,585 (GRCm39) |
T248M |
probably damaging |
Het |
Pink1 |
T |
C |
4: 138,044,769 (GRCm39) |
T323A |
probably damaging |
Het |
Polr3a |
C |
T |
14: 24,511,883 (GRCm39) |
R891Q |
probably damaging |
Het |
Prkar1b |
C |
A |
5: 139,094,363 (GRCm39) |
C75F |
probably benign |
Het |
Prss58 |
C |
T |
6: 40,876,987 (GRCm39) |
|
probably null |
Het |
Ptk2 |
G |
A |
15: 73,093,658 (GRCm39) |
P854S |
possibly damaging |
Het |
Pttg1ip2 |
A |
T |
5: 5,516,631 (GRCm39) |
D63E |
possibly damaging |
Het |
Qars1 |
T |
C |
9: 108,389,971 (GRCm39) |
I350T |
probably damaging |
Het |
Qprt |
T |
C |
7: 126,707,984 (GRCm39) |
K149R |
probably damaging |
Het |
Rasgrf1 |
T |
A |
9: 89,873,651 (GRCm39) |
D653E |
probably damaging |
Het |
Rbm26 |
T |
C |
14: 105,381,703 (GRCm39) |
M481V |
possibly damaging |
Het |
Rdx |
C |
T |
9: 51,997,745 (GRCm39) |
T573M |
probably damaging |
Het |
Rgs14 |
A |
G |
13: 55,527,508 (GRCm39) |
|
probably null |
Het |
Robo2 |
T |
C |
16: 73,753,438 (GRCm39) |
E813G |
probably damaging |
Het |
Rrbp1 |
A |
T |
2: 143,791,600 (GRCm39) |
F1369I |
probably benign |
Het |
Sh2d4b |
T |
A |
14: 40,562,209 (GRCm39) |
T319S |
probably benign |
Het |
Slc7a15 |
G |
T |
12: 8,588,895 (GRCm39) |
N217K |
probably damaging |
Het |
Stmn1 |
A |
G |
4: 134,198,088 (GRCm39) |
K42E |
probably damaging |
Het |
Tbl2 |
T |
G |
5: 135,178,682 (GRCm39) |
W31G |
probably benign |
Het |
Tmem8b |
T |
C |
4: 43,669,845 (GRCm39) |
C114R |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,666,904 (GRCm39) |
R11531G |
unknown |
Het |
Ube2e3 |
T |
C |
2: 78,744,085 (GRCm39) |
Y105H |
probably benign |
Het |
Usp16 |
G |
T |
16: 87,280,059 (GRCm39) |
C753F |
probably benign |
Het |
Vmn1r13 |
T |
C |
6: 57,187,239 (GRCm39) |
S133P |
possibly damaging |
Het |
Vmn2r76 |
T |
A |
7: 85,877,975 (GRCm39) |
Q474L |
probably benign |
Het |
Vps52 |
T |
C |
17: 34,184,262 (GRCm39) |
I601T |
probably benign |
Het |
Wasf1 |
A |
T |
10: 40,802,587 (GRCm39) |
T81S |
possibly damaging |
Het |
Wdr82 |
A |
G |
9: 106,048,532 (GRCm39) |
S39G |
probably benign |
Het |
Zdhhc13 |
A |
G |
7: 48,451,080 (GRCm39) |
I108V |
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 |
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'- CCTGACTTCCTTGGTGATGAAC -3'
(R):5'- TCAAGGCTCCATACATACCTTG -3'
Sequencing Primer
(F):5'- GTGTAAGCCGAATAAACCCTTTC -3'
(R):5'- CATACCTTGTGGCAAAGTAGC -3'
|
Posted On |
2019-05-15 |