Incidental Mutation 'IGL03372:Tsc2'
| ID |
420361 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tsc2
|
| Ensembl Gene |
ENSMUSG00000002496 |
| Gene Name |
tuberous sclerosis 2 |
| Synonyms |
tuberin, Nafld |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL03372
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
24595816-24632630 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 24619470 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Arginine
at position 515
(L515R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154706
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097373]
[ENSMUST00000226284]
[ENSMUST00000226398]
[ENSMUST00000227607]
[ENSMUST00000227745]
[ENSMUST00000228412]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000097373
AA Change: L515R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000094986
Gene: ENSMUSG00000002496
AA Change: L515R
| 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 |
noncoding transcript
Transcript: ENSMUST00000226242
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000226284
AA Change: L515R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000226398
AA Change: L515R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000227607
AA Change: L456R
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000227745
AA Change: L515R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227754
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000228412
AA Change: L515R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
|
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb2 |
C |
T |
4: 130,017,569 (GRCm38) |
A1161V |
probably benign |
Het |
| Alpi |
A |
G |
1: 87,100,628 (GRCm38) |
|
probably benign |
Het |
| Asxl1 |
A |
T |
2: 153,400,413 (GRCm38) |
N961I |
probably damaging |
Het |
| Bcl2l10 |
A |
G |
9: 75,348,047 (GRCm38) |
I49V |
probably benign |
Het |
| Bod1l |
T |
C |
5: 41,805,235 (GRCm38) |
|
probably benign |
Het |
| Ccl20 |
A |
G |
1: 83,117,876 (GRCm38) |
M54V |
probably benign |
Het |
| Cep72 |
A |
C |
13: 74,043,518 (GRCm38) |
L200V |
possibly damaging |
Het |
| Clic4 |
T |
C |
4: 135,218,614 (GRCm38) |
D164G |
probably damaging |
Het |
| Col5a3 |
G |
A |
9: 20,775,328 (GRCm38) |
P1334S |
unknown |
Het |
| Dab2 |
T |
C |
15: 6,429,549 (GRCm38) |
L293P |
probably damaging |
Het |
| Ddx50 |
A |
T |
10: 62,643,330 (GRCm38) |
S140T |
probably benign |
Het |
| Dnah6 |
A |
T |
6: 73,075,850 (GRCm38) |
M2897K |
probably benign |
Het |
| Dnmt3a |
A |
G |
12: 3,902,666 (GRCm38) |
E721G |
probably damaging |
Het |
| Esyt3 |
A |
T |
9: 99,336,056 (GRCm38) |
|
probably benign |
Het |
| Fat4 |
G |
T |
3: 38,889,134 (GRCm38) |
K725N |
possibly damaging |
Het |
| Fezf1 |
T |
C |
6: 23,246,910 (GRCm38) |
I308V |
probably damaging |
Het |
| Fut2 |
C |
T |
7: 45,650,769 (GRCm38) |
G193E |
possibly damaging |
Het |
| Gapdhs |
T |
C |
7: 30,733,249 (GRCm38) |
|
probably benign |
Het |
| Gm10109 |
A |
T |
7: 44,221,702 (GRCm38) |
|
probably benign |
Het |
| Gpd2 |
G |
A |
2: 57,355,507 (GRCm38) |
V405I |
probably damaging |
Het |
| Gtf2e1 |
T |
C |
16: 37,535,715 (GRCm38) |
|
probably benign |
Het |
| Iqca |
A |
G |
1: 90,144,969 (GRCm38) |
I63T |
possibly damaging |
Het |
| Kcmf1 |
A |
C |
6: 72,849,563 (GRCm38) |
L161R |
probably damaging |
Het |
| Kif19a |
G |
T |
11: 114,779,218 (GRCm38) |
V80L |
probably damaging |
Het |
| Kif21a |
A |
T |
15: 90,956,376 (GRCm38) |
M1179K |
probably benign |
Het |
| Krtap19-2 |
A |
G |
16: 88,873,886 (GRCm38) |
|
probably benign |
Het |
| Ksr2 |
T |
A |
5: 117,702,718 (GRCm38) |
I575N |
possibly damaging |
Het |
| L3mbtl1 |
A |
T |
2: 162,971,157 (GRCm38) |
|
probably benign |
Het |
| Larp1b |
A |
T |
3: 41,024,527 (GRCm38) |
H6L |
possibly damaging |
Het |
| Map4k2 |
T |
A |
19: 6,342,249 (GRCm38) |
|
probably benign |
Het |
| Mdh1b |
T |
C |
1: 63,719,995 (GRCm38) |
H146R |
possibly damaging |
Het |
| Morc2a |
T |
C |
11: 3,681,813 (GRCm38) |
|
probably benign |
Het |
| Mvd |
A |
G |
8: 122,443,374 (GRCm38) |
|
probably benign |
Het |
| Myo7b |
C |
T |
18: 31,998,601 (GRCm38) |
S514N |
probably damaging |
Het |
| Nav1 |
A |
T |
1: 135,450,903 (GRCm38) |
I1610K |
probably damaging |
Het |
| Nbas |
T |
C |
12: 13,534,472 (GRCm38) |
L2095P |
probably damaging |
Het |
| Nrros |
T |
C |
16: 32,144,770 (GRCm38) |
N115S |
probably damaging |
Het |
| Olfr472 |
T |
C |
7: 107,903,370 (GRCm38) |
Y218H |
probably damaging |
Het |
| Otud6b |
A |
C |
4: 14,812,519 (GRCm38) |
I276R |
possibly damaging |
Het |
| P2rx6 |
G |
A |
16: 17,567,492 (GRCm38) |
E150K |
probably damaging |
Het |
| Pan2 |
T |
A |
10: 128,315,127 (GRCm38) |
L771Q |
probably benign |
Het |
| Pbrm1 |
T |
A |
14: 31,085,019 (GRCm38) |
N1087K |
probably benign |
Het |
| Pcdhb5 |
G |
T |
18: 37,320,660 (GRCm38) |
R31L |
probably benign |
Het |
| Proser3 |
A |
C |
7: 30,543,568 (GRCm38) |
S195A |
probably damaging |
Het |
| Rad50 |
T |
C |
11: 53,695,294 (GRCm38) |
K292E |
probably benign |
Het |
| Rbm27 |
G |
A |
18: 42,305,716 (GRCm38) |
R394H |
probably damaging |
Het |
| Samd9l |
A |
G |
6: 3,375,314 (GRCm38) |
I649T |
probably damaging |
Het |
| Skint3 |
G |
A |
4: 112,255,906 (GRCm38) |
|
probably benign |
Het |
| Slc4a4 |
T |
A |
5: 89,156,426 (GRCm38) |
L576Q |
probably damaging |
Het |
| Snx2 |
A |
G |
18: 53,216,391 (GRCm38) |
D408G |
probably damaging |
Het |
| Taar2 |
T |
C |
10: 23,941,171 (GRCm38) |
V203A |
probably benign |
Het |
| Tdrd6 |
C |
T |
17: 43,625,568 (GRCm38) |
V1530M |
probably damaging |
Het |
| Unc13a |
A |
T |
8: 71,655,709 (GRCm38) |
M500K |
probably damaging |
Het |
| Vmn1r75 |
A |
G |
7: 11,880,569 (GRCm38) |
D76G |
probably benign |
Het |
| Whrn |
T |
C |
4: 63,418,618 (GRCm38) |
D127G |
probably damaging |
Het |
|
| Other mutations in Tsc2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00231:Tsc2
|
APN |
17 |
24,608,107 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00985:Tsc2
|
APN |
17 |
24,597,131 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01386:Tsc2
|
APN |
17 |
24,613,285 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01468:Tsc2
|
APN |
17 |
24,621,097 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
IGL01530:Tsc2
|
APN |
17 |
24,622,662 (GRCm38) |
missense |
possibly damaging |
0.76 |
|
IGL02390:Tsc2
|
APN |
17 |
24,600,453 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02398:Tsc2
|
APN |
17 |
24,621,729 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02741:Tsc2
|
APN |
17 |
24,629,969 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03191:Tsc2
|
APN |
17 |
24,628,054 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03412:Tsc2
|
APN |
17 |
24,597,068 (GRCm38) |
missense |
probably damaging |
0.98 |
|
Twitch
|
UTSW |
17 |
24,596,742 (GRCm38) |
splice site |
probably null |
|
|
PIT4515001:Tsc2
|
UTSW |
17 |
24,621,147 (GRCm38) |
missense |
probably benign |
0.15 |
|
R0025:Tsc2
|
UTSW |
17 |
24,631,004 (GRCm38) |
splice site |
probably benign |
|
|
R0025:Tsc2
|
UTSW |
17 |
24,631,004 (GRCm38) |
splice site |
probably benign |
|
|
R0138:Tsc2
|
UTSW |
17 |
24,599,626 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R0540:Tsc2
|
UTSW |
17 |
24,621,712 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0570:Tsc2
|
UTSW |
17 |
24,626,727 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0607:Tsc2
|
UTSW |
17 |
24,621,712 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0826:Tsc2
|
UTSW |
17 |
24,596,958 (GRCm38) |
missense |
probably benign |
0.04 |
|
R1430:Tsc2
|
UTSW |
17 |
24,599,023 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1440:Tsc2
|
UTSW |
17 |
24,614,392 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1466:Tsc2
|
UTSW |
17 |
24,608,973 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1466:Tsc2
|
UTSW |
17 |
24,608,973 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1541:Tsc2
|
UTSW |
17 |
24,631,976 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1717:Tsc2
|
UTSW |
17 |
24,597,068 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1799:Tsc2
|
UTSW |
17 |
24,604,408 (GRCm38) |
missense |
probably benign |
|
|
R2030:Tsc2
|
UTSW |
17 |
24,623,470 (GRCm38) |
splice site |
probably benign |
|
|
R2147:Tsc2
|
UTSW |
17 |
24,621,142 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
R2888:Tsc2
|
UTSW |
17 |
24,631,995 (GRCm38) |
critical splice donor site |
probably null |
|
|
R3609:Tsc2
|
UTSW |
17 |
24,622,550 (GRCm38) |
missense |
possibly damaging |
0.74 |
|
R3610:Tsc2
|
UTSW |
17 |
24,622,550 (GRCm38) |
missense |
possibly damaging |
0.74 |
|
R3811:Tsc2
|
UTSW |
17 |
24,629,037 (GRCm38) |
missense |
probably benign |
0.09 |
|
R3895:Tsc2
|
UTSW |
17 |
24,599,812 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3962:Tsc2
|
UTSW |
17 |
24,621,166 (GRCm38) |
splice site |
probably benign |
|
|
R3971:Tsc2
|
UTSW |
17 |
24,623,588 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4018:Tsc2
|
UTSW |
17 |
24,625,281 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4184:Tsc2
|
UTSW |
17 |
24,632,016 (GRCm38) |
missense |
probably benign |
0.43 |
|
R4435:Tsc2
|
UTSW |
17 |
24,599,713 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4437:Tsc2
|
UTSW |
17 |
24,599,713 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4474:Tsc2
|
UTSW |
17 |
24,597,264 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4703:Tsc2
|
UTSW |
17 |
24,604,909 (GRCm38) |
missense |
probably benign |
0.13 |
|
R4731:Tsc2
|
UTSW |
17 |
24,603,275 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
R4732:Tsc2
|
UTSW |
17 |
24,603,275 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
R4733:Tsc2
|
UTSW |
17 |
24,603,275 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
R4817:Tsc2
|
UTSW |
17 |
24,596,742 (GRCm38) |
splice site |
probably null |
|
|
R4890:Tsc2
|
UTSW |
17 |
24,600,035 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4922:Tsc2
|
UTSW |
17 |
24,600,369 (GRCm38) |
missense |
probably benign |
0.22 |
|
R5119:Tsc2
|
UTSW |
17 |
24,603,280 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5393:Tsc2
|
UTSW |
17 |
24,600,396 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R5785:Tsc2
|
UTSW |
17 |
24,599,887 (GRCm38) |
splice site |
probably null |
|
|
R5838:Tsc2
|
UTSW |
17 |
24,613,216 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5857:Tsc2
|
UTSW |
17 |
24,600,007 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5911:Tsc2
|
UTSW |
17 |
24,600,387 (GRCm38) |
missense |
possibly damaging |
0.63 |
|
R5988:Tsc2
|
UTSW |
17 |
24,620,766 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6275:Tsc2
|
UTSW |
17 |
24,600,420 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6290:Tsc2
|
UTSW |
17 |
24,596,910 (GRCm38) |
missense |
probably benign |
0.04 |
|
R6371:Tsc2
|
UTSW |
17 |
24,626,714 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6467:Tsc2
|
UTSW |
17 |
24,609,127 (GRCm38) |
missense |
probably benign |
0.04 |
|
R6577:Tsc2
|
UTSW |
17 |
24,610,499 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6728:Tsc2
|
UTSW |
17 |
24,621,124 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6918:Tsc2
|
UTSW |
17 |
24,613,229 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6995:Tsc2
|
UTSW |
17 |
24,628,054 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7026:Tsc2
|
UTSW |
17 |
24,626,739 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7136:Tsc2
|
UTSW |
17 |
24,613,280 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7236:Tsc2
|
UTSW |
17 |
24,623,594 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R7243:Tsc2
|
UTSW |
17 |
24,599,630 (GRCm38) |
missense |
probably benign |
0.02 |
|
R7249:Tsc2
|
UTSW |
17 |
24,607,755 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7450:Tsc2
|
UTSW |
17 |
24,600,031 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7522:Tsc2
|
UTSW |
17 |
24,630,965 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7529:Tsc2
|
UTSW |
17 |
24,597,948 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7637:Tsc2
|
UTSW |
17 |
24,607,492 (GRCm38) |
missense |
probably benign |
0.13 |
|
R7781:Tsc2
|
UTSW |
17 |
24,608,115 (GRCm38) |
missense |
possibly damaging |
0.52 |
|
R8005:Tsc2
|
UTSW |
17 |
24,599,596 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8262:Tsc2
|
UTSW |
17 |
24,614,366 (GRCm38) |
missense |
probably benign |
0.06 |
|
R8268:Tsc2
|
UTSW |
17 |
24,600,010 (GRCm38) |
missense |
probably benign |
0.44 |
|
R8400:Tsc2
|
UTSW |
17 |
24,604,987 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
R9020:Tsc2
|
UTSW |
17 |
24,626,717 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9039:Tsc2
|
UTSW |
17 |
24,607,515 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9065:Tsc2
|
UTSW |
17 |
24,603,190 (GRCm38) |
missense |
probably benign |
0.39 |
|
R9123:Tsc2
|
UTSW |
17 |
24,604,828 (GRCm38) |
missense |
probably null |
0.40 |
|
R9125:Tsc2
|
UTSW |
17 |
24,604,828 (GRCm38) |
missense |
probably null |
0.40 |
|
R9186:Tsc2
|
UTSW |
17 |
24,604,888 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9390:Tsc2
|
UTSW |
17 |
24,604,850 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9542:Tsc2
|
UTSW |
17 |
24,600,334 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9721:Tsc2
|
UTSW |
17 |
24,599,642 (GRCm38) |
nonsense |
probably null |
|
|
Z1177:Tsc2
|
UTSW |
17 |
24,620,779 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
| Posted On |
2016-08-02 |
Incidental Mutation