Incidental Mutation 'R9386:Tsc1'
| ID |
710304 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tsc1
|
| Ensembl Gene |
ENSMUSG00000026812 |
| Gene Name |
TSC complex subunit 1 |
| Synonyms |
tuberous sclerosis 1, hamartin |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9386 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
28531240-28581179 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 28561858 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 332
(S332P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109500
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028155]
[ENSMUST00000113867]
[ENSMUST00000113869]
[ENSMUST00000113870]
[ENSMUST00000133565]
[ENSMUST00000156857]
|
| AlphaFold |
Q9EP53 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028155
AA Change: S332P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000028155
Gene: ENSMUSG00000026812
AA Change: S332P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hamartin
|
2 |
715 |
2.2e-281 |
PFAM |
|
SCOP:d1eq1a_
|
723 |
886 |
4e-11 |
SMART |
|
low complexity region
|
974 |
990 |
N/A |
INTRINSIC |
|
low complexity region
|
1025 |
1042 |
N/A |
INTRINSIC |
|
low complexity region
|
1099 |
1117 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113867
AA Change: S332P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000109498
Gene: ENSMUSG00000026812
AA Change: S332P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hamartin
|
2 |
710 |
7.3e-279 |
PFAM |
|
SCOP:d1eq1a_
|
718 |
881 |
6e-11 |
SMART |
|
low complexity region
|
969 |
985 |
N/A |
INTRINSIC |
|
low complexity region
|
1020 |
1037 |
N/A |
INTRINSIC |
|
low complexity region
|
1094 |
1112 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113869
AA Change: S332P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000109500
Gene: ENSMUSG00000026812
AA Change: S332P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hamartin
|
7 |
716 |
6e-279 |
PFAM |
|
SCOP:d1eq1a_
|
724 |
887 |
4e-11 |
SMART |
|
low complexity region
|
975 |
991 |
N/A |
INTRINSIC |
|
low complexity region
|
1026 |
1043 |
N/A |
INTRINSIC |
|
low complexity region
|
1100 |
1118 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113870
AA Change: S332P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000109501
Gene: ENSMUSG00000026812
AA Change: S332P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hamartin
|
2 |
715 |
2.2e-281 |
PFAM |
|
SCOP:d1eq1a_
|
723 |
886 |
4e-11 |
SMART |
|
low complexity region
|
974 |
990 |
N/A |
INTRINSIC |
|
low complexity region
|
1025 |
1042 |
N/A |
INTRINSIC |
|
low complexity region
|
1099 |
1117 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000133565
AA Change: S332P
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000120888
Gene: ENSMUSG00000026812
AA Change: S332P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hamartin
|
2 |
455 |
1.3e-198 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000156857
AA Change: S332P
PolyPhen 2
Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000115380
Gene: ENSMUSG00000026812
AA Change: S332P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hamartin
|
2 |
348 |
2.3e-170 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a growth inhibitory protein thought to play a role in the stabilization of tuberin. Mutations in this gene have been associated with tuberous sclerosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2009]
PHENOTYPE: Homozygous null mutants show liver hypoplasia, open neural tube and die by embryonic day 10.5-11.5. Heterozygotes develop kidney cystadenomas and liver hemangiomas. Conditional astrocyte-specific nulls show increased astrocyte numbers and seizures. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(38) : Targeted(7) Gene trapped(31)
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgb |
T |
A |
10: 10,274,708 (GRCm39) |
M750L |
probably benign |
Het |
| Ahnak2 |
T |
A |
12: 112,745,428 (GRCm39) |
H673L |
|
Het |
| Alg1 |
T |
C |
16: 5,059,201 (GRCm39) |
L338P |
probably damaging |
Het |
| Anapc1 |
A |
C |
2: 128,459,642 (GRCm39) |
S1806A |
probably benign |
Het |
| Anks1 |
C |
T |
17: 28,272,880 (GRCm39) |
T925I |
probably benign |
Het |
| Aoc1l1 |
A |
G |
6: 48,952,324 (GRCm39) |
N83S |
probably benign |
Het |
| Apob |
G |
A |
12: 8,056,629 (GRCm39) |
A1704T |
probably damaging |
Het |
| Arnt |
G |
A |
3: 95,395,687 (GRCm39) |
V422M |
possibly damaging |
Het |
| Cblb |
C |
A |
16: 51,986,701 (GRCm39) |
S648* |
probably null |
Het |
| Cdk18 |
A |
G |
1: 132,044,183 (GRCm39) |
|
probably null |
Het |
| Celsr1 |
T |
C |
15: 85,863,231 (GRCm39) |
D1267G |
probably damaging |
Het |
| Chtf18 |
C |
T |
17: 25,942,732 (GRCm39) |
R399H |
probably damaging |
Het |
| Cntnap1 |
T |
A |
11: 101,076,052 (GRCm39) |
Y979N |
probably damaging |
Het |
| Col22a1 |
T |
C |
15: 71,853,794 (GRCm39) |
D256G |
probably damaging |
Het |
| Dbn1 |
C |
T |
13: 55,629,760 (GRCm39) |
R174Q |
probably damaging |
Het |
| Dnah10 |
G |
A |
5: 124,871,507 (GRCm39) |
|
probably null |
Het |
| Dnah9 |
T |
A |
11: 65,838,368 (GRCm39) |
D3143V |
probably damaging |
Het |
| Dnajc6 |
G |
A |
4: 101,494,098 (GRCm39) |
|
probably null |
Het |
| Dsg1b |
A |
G |
18: 20,525,071 (GRCm39) |
N169S |
possibly damaging |
Het |
| Eloa |
A |
G |
4: 135,737,847 (GRCm39) |
V371A |
probably benign |
Het |
| Epb41l4b |
A |
T |
4: 57,076,553 (GRCm39) |
V327E |
probably damaging |
Het |
| Fbxo15 |
A |
T |
18: 84,977,372 (GRCm39) |
T140S |
probably benign |
Het |
| Fryl |
A |
T |
5: 73,349,152 (GRCm39) |
F3L |
unknown |
Het |
| Galnt16 |
T |
C |
12: 80,644,880 (GRCm39) |
V501A |
probably damaging |
Het |
| Haus6 |
A |
G |
4: 86,502,101 (GRCm39) |
I590T |
probably benign |
Het |
| Hcfc2 |
T |
A |
10: 82,574,937 (GRCm39) |
F199I |
probably damaging |
Het |
| Hoxd13 |
A |
G |
2: 74,499,327 (GRCm39) |
Y225C |
probably damaging |
Het |
| Hydin |
T |
C |
8: 111,314,362 (GRCm39) |
L4282P |
probably benign |
Het |
| Ing2 |
T |
C |
8: 48,127,561 (GRCm39) |
E52G |
probably benign |
Het |
| Itsn2 |
T |
C |
12: 4,679,730 (GRCm39) |
S180P |
unknown |
Het |
| Kansl1l |
T |
C |
1: 66,765,129 (GRCm39) |
E727G |
probably damaging |
Het |
| Klhl26 |
A |
G |
8: 70,904,156 (GRCm39) |
F585L |
probably benign |
Het |
| Lce1a1 |
T |
G |
3: 92,554,190 (GRCm39) |
S95R |
unknown |
Het |
| Lrp1b |
A |
T |
2: 41,013,640 (GRCm39) |
V1955E |
|
Het |
| Megf6 |
G |
A |
4: 154,340,534 (GRCm39) |
G583E |
probably damaging |
Het |
| Mex3a |
A |
G |
3: 88,443,505 (GRCm39) |
I194V |
possibly damaging |
Het |
| Mmp10 |
A |
T |
9: 7,503,388 (GRCm39) |
Y116F |
probably damaging |
Het |
| Muc2 |
A |
T |
7: 141,279,389 (GRCm39) |
D155V |
probably damaging |
Het |
| Ncam2 |
T |
C |
16: 81,252,252 (GRCm39) |
C232R |
probably damaging |
Het |
| Nopchap1 |
T |
C |
10: 83,196,129 (GRCm39) |
F3L |
probably benign |
Het |
| Or13n4 |
T |
C |
7: 106,423,707 (GRCm39) |
I9V |
probably benign |
Het |
| Pdgfd |
C |
A |
9: 6,293,903 (GRCm39) |
A159E |
possibly damaging |
Het |
| Pigt |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
2: 164,341,589 (GRCm39) |
|
probably null |
Het |
| Plekha8 |
C |
A |
6: 54,605,846 (GRCm39) |
T307K |
probably damaging |
Het |
| Pnpla6 |
T |
C |
8: 3,571,417 (GRCm39) |
|
probably null |
Het |
| Prkdc |
T |
G |
16: 15,496,136 (GRCm39) |
S776A |
probably damaging |
Het |
| Prrc2b |
T |
C |
2: 32,104,125 (GRCm39) |
I1201T |
probably benign |
Het |
| Pxmp4 |
C |
A |
2: 154,430,004 (GRCm39) |
M128I |
probably benign |
Het |
| Siglech |
T |
C |
7: 55,422,312 (GRCm39) |
S306P |
probably benign |
Het |
| Strc |
C |
T |
2: 121,198,211 (GRCm39) |
E1449K |
probably damaging |
Het |
| Tchh |
A |
T |
3: 93,354,346 (GRCm39) |
Q1262L |
unknown |
Het |
| Tln2 |
A |
T |
9: 67,273,249 (GRCm39) |
D410E |
possibly damaging |
Het |
| Tmem175 |
A |
T |
5: 108,787,339 (GRCm39) |
Q62L |
probably benign |
Het |
| Tpm3-rs7 |
A |
C |
14: 113,552,597 (GRCm39) |
M164L |
probably benign |
Het |
| Trav8d-2 |
G |
A |
14: 53,280,220 (GRCm39) |
R70H |
probably damaging |
Het |
| Ttc41 |
T |
G |
10: 86,548,890 (GRCm39) |
I28R |
probably damaging |
Het |
| Unc93a2 |
C |
T |
17: 7,637,164 (GRCm39) |
W341* |
probably null |
Het |
| Vsig10 |
A |
C |
5: 117,463,140 (GRCm39) |
Y122S |
probably damaging |
Het |
| Wnk2 |
A |
G |
13: 49,220,822 (GRCm39) |
W1260R |
probably damaging |
Het |
|
| Other mutations in Tsc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00333:Tsc1
|
APN |
2 |
28,551,623 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL00770:Tsc1
|
APN |
2 |
28,555,023 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00774:Tsc1
|
APN |
2 |
28,555,023 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00835:Tsc1
|
APN |
2 |
28,562,478 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL00971:Tsc1
|
APN |
2 |
28,560,952 (GRCm39) |
nonsense |
probably null |
|
|
IGL01808:Tsc1
|
APN |
2 |
28,552,519 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02281:Tsc1
|
APN |
2 |
28,553,607 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03068:Tsc1
|
APN |
2 |
28,571,270 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Cassava
|
UTSW |
2 |
28,561,898 (GRCm39) |
splice site |
probably null |
|
|
R0077:Tsc1
|
UTSW |
2 |
28,568,955 (GRCm39) |
splice site |
probably benign |
|
|
R0149:Tsc1
|
UTSW |
2 |
28,560,913 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0605:Tsc1
|
UTSW |
2 |
28,561,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0737:Tsc1
|
UTSW |
2 |
28,560,942 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1199:Tsc1
|
UTSW |
2 |
28,555,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1751:Tsc1
|
UTSW |
2 |
28,566,038 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1757:Tsc1
|
UTSW |
2 |
28,576,125 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1807:Tsc1
|
UTSW |
2 |
28,576,125 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2014:Tsc1
|
UTSW |
2 |
28,555,649 (GRCm39) |
splice site |
probably benign |
|
|
R2284:Tsc1
|
UTSW |
2 |
28,555,109 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R3786:Tsc1
|
UTSW |
2 |
28,577,154 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4490:Tsc1
|
UTSW |
2 |
28,560,937 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4707:Tsc1
|
UTSW |
2 |
28,562,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4751:Tsc1
|
UTSW |
2 |
28,569,093 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4794:Tsc1
|
UTSW |
2 |
28,551,702 (GRCm39) |
splice site |
probably null |
|
|
R4906:Tsc1
|
UTSW |
2 |
28,565,201 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R5020:Tsc1
|
UTSW |
2 |
28,566,531 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5401:Tsc1
|
UTSW |
2 |
28,576,920 (GRCm39) |
nonsense |
probably null |
|
|
R5708:Tsc1
|
UTSW |
2 |
28,555,197 (GRCm39) |
intron |
probably benign |
|
|
R6435:Tsc1
|
UTSW |
2 |
28,566,464 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6469:Tsc1
|
UTSW |
2 |
28,561,898 (GRCm39) |
splice site |
probably null |
|
|
R6502:Tsc1
|
UTSW |
2 |
28,555,613 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6617:Tsc1
|
UTSW |
2 |
28,577,001 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7098:Tsc1
|
UTSW |
2 |
28,565,744 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7503:Tsc1
|
UTSW |
2 |
28,577,088 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R7608:Tsc1
|
UTSW |
2 |
28,548,748 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7677:Tsc1
|
UTSW |
2 |
28,562,829 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7791:Tsc1
|
UTSW |
2 |
28,571,960 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8021:Tsc1
|
UTSW |
2 |
28,576,901 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R8203:Tsc1
|
UTSW |
2 |
28,563,007 (GRCm39) |
splice site |
probably null |
|
|
R8228:Tsc1
|
UTSW |
2 |
28,566,141 (GRCm39) |
missense |
probably benign |
0.23 |
|
R9057:Tsc1
|
UTSW |
2 |
28,575,874 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9088:Tsc1
|
UTSW |
2 |
28,552,617 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9201:Tsc1
|
UTSW |
2 |
28,576,791 (GRCm39) |
missense |
probably benign |
|
|
R9731:Tsc1
|
UTSW |
2 |
28,566,486 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9780:Tsc1
|
UTSW |
2 |
28,565,761 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTTTGTTCCCAGGGATGGCTAG -3'
(R):5'- GTCTGATCATGTCAAGGGTCC -3'
Sequencing Primer
(F):5'- CCAACGGTTTTAAGCAGAGACTTG -3'
(R):5'- TCAAGGGTCCTTAAAGGGTCCTC -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation