Incidental Mutation 'R1199:Tsc1'
| ID |
101162 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tsc1
|
| Ensembl Gene |
ENSMUSG00000026812 |
| Gene Name |
TSC complex subunit 1 |
| Synonyms |
tuberous sclerosis 1, hamartin |
| MMRRC Submission |
039269-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1199 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
28531240-28581179 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 28555638 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 245
(R245Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120888
(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: R245Q
PolyPhen 2
Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000028155
Gene: ENSMUSG00000026812
AA Change: R245Q
| 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: R245Q
PolyPhen 2
Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000109498
Gene: ENSMUSG00000026812
AA Change: R245Q
| 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: R245Q
PolyPhen 2
Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000109500
Gene: ENSMUSG00000026812
AA Change: R245Q
| 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: R245Q
PolyPhen 2
Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000109501
Gene: ENSMUSG00000026812
AA Change: R245Q
| 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 |
noncoding transcript
Transcript: ENSMUST00000124507
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000133565
AA Change: R245Q
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000120888
Gene: ENSMUSG00000026812
AA Change: R245Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hamartin
|
2 |
455 |
1.3e-198 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150274
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156857
AA Change: R245Q
PolyPhen 2
Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000115380
Gene: ENSMUSG00000026812
AA Change: R245Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hamartin
|
2 |
348 |
2.3e-170 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153625
|
| Meta Mutation Damage Score |
0.2325 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.5%
|
| Validation Efficiency |
96% (55/57) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700102P08Rik |
A |
T |
9: 108,270,676 (GRCm39) |
H80L |
possibly damaging |
Het |
| A1bg |
A |
T |
15: 60,791,484 (GRCm39) |
|
probably null |
Het |
| Aco2 |
C |
T |
15: 81,779,394 (GRCm39) |
S33L |
probably damaging |
Het |
| Agrn |
T |
A |
4: 156,256,756 (GRCm39) |
Y1283F |
probably benign |
Het |
| Akap6 |
T |
C |
12: 52,842,973 (GRCm39) |
V107A |
probably damaging |
Het |
| Amph |
G |
A |
13: 19,326,198 (GRCm39) |
V643M |
probably damaging |
Het |
| Btnl9 |
A |
T |
11: 49,071,574 (GRCm39) |
V83E |
probably damaging |
Het |
| Camk2a |
T |
A |
18: 61,085,396 (GRCm39) |
C131* |
probably null |
Het |
| Ccdc14 |
C |
T |
16: 34,544,198 (GRCm39) |
T852M |
probably damaging |
Het |
| Cntn4 |
T |
C |
6: 106,330,558 (GRCm39) |
|
probably benign |
Het |
| Cp |
T |
G |
3: 20,031,316 (GRCm39) |
S585R |
probably damaging |
Het |
| Cpt1b |
G |
A |
15: 89,303,213 (GRCm39) |
A614V |
probably benign |
Het |
| Crygn |
T |
C |
5: 24,956,146 (GRCm39) |
Y153C |
probably damaging |
Het |
| Dennd1a |
A |
T |
2: 37,851,728 (GRCm39) |
D53E |
probably damaging |
Het |
| Deptor |
T |
C |
15: 55,115,406 (GRCm39) |
C357R |
probably benign |
Het |
| Dnajc28 |
C |
A |
16: 91,415,530 (GRCm39) |
|
probably benign |
Het |
| Eml6 |
G |
A |
11: 29,705,044 (GRCm39) |
A1500V |
possibly damaging |
Het |
| Fgd5 |
T |
A |
6: 91,963,959 (GRCm39) |
L64Q |
possibly damaging |
Het |
| Fgfbp1 |
A |
G |
5: 44,136,939 (GRCm39) |
Y118H |
probably damaging |
Het |
| Ftcd |
G |
A |
10: 76,415,653 (GRCm39) |
R135H |
probably damaging |
Het |
| Gm5174 |
A |
T |
10: 86,493,189 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr37l1 |
A |
T |
1: 135,094,710 (GRCm39) |
L178Q |
probably damaging |
Het |
| Gtf2ird1 |
A |
G |
5: 134,439,918 (GRCm39) |
V104A |
possibly damaging |
Het |
| Irs1 |
T |
A |
1: 82,267,347 (GRCm39) |
S290C |
probably damaging |
Het |
| Kel |
C |
T |
6: 41,665,525 (GRCm39) |
V532I |
possibly damaging |
Het |
| Kif1c |
A |
G |
11: 70,599,427 (GRCm39) |
E442G |
possibly damaging |
Het |
| Klhdc10 |
T |
A |
6: 30,449,493 (GRCm39) |
V185D |
probably damaging |
Het |
| Lpp |
C |
T |
16: 24,500,610 (GRCm39) |
R141C |
probably damaging |
Het |
| Or52a5 |
A |
T |
7: 103,427,192 (GRCm39) |
M120K |
probably damaging |
Het |
| Or5m13 |
A |
G |
2: 85,748,379 (GRCm39) |
I37V |
probably benign |
Het |
| Pcnx2 |
G |
T |
8: 126,614,053 (GRCm39) |
P466H |
possibly damaging |
Het |
| Pcsk1 |
A |
T |
13: 75,244,532 (GRCm39) |
|
probably benign |
Het |
| Pkd2l2 |
T |
C |
18: 34,571,269 (GRCm39) |
|
probably null |
Het |
| Pomt1 |
A |
G |
2: 32,140,504 (GRCm39) |
N454S |
probably benign |
Het |
| Samhd1 |
A |
T |
2: 156,951,381 (GRCm39) |
I452N |
probably damaging |
Het |
| Sez6 |
A |
G |
11: 77,844,711 (GRCm39) |
Q178R |
probably benign |
Het |
| Slc25a44 |
A |
G |
3: 88,328,293 (GRCm39) |
V66A |
probably damaging |
Het |
| Slc46a2 |
T |
C |
4: 59,914,189 (GRCm39) |
T245A |
probably benign |
Het |
| Slc4a4 |
G |
A |
5: 89,363,653 (GRCm39) |
|
probably null |
Het |
| Spata6 |
T |
A |
4: 111,656,342 (GRCm39) |
C329S |
possibly damaging |
Het |
| Srrm2 |
A |
T |
17: 24,036,725 (GRCm39) |
|
probably benign |
Het |
| Stard9 |
C |
A |
2: 120,504,117 (GRCm39) |
S221R |
probably damaging |
Het |
| Svil |
T |
A |
18: 5,059,217 (GRCm39) |
|
probably benign |
Het |
| Tenm3 |
G |
T |
8: 48,688,617 (GRCm39) |
S2323R |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,739,100 (GRCm39) |
V3813A |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,780,388 (GRCm39) |
T1121M |
possibly damaging |
Het |
| Ush2a |
G |
A |
1: 188,491,992 (GRCm39) |
V3094I |
probably benign |
Het |
| Vcan |
A |
G |
13: 89,827,913 (GRCm39) |
|
probably null |
Het |
| Vmn1r189 |
A |
T |
13: 22,286,828 (GRCm39) |
L3Q |
probably damaging |
Het |
| Vmn1r60 |
A |
C |
7: 5,547,971 (GRCm39) |
V43G |
probably damaging |
Het |
| Vmn2r110 |
A |
G |
17: 20,803,525 (GRCm39) |
I350T |
probably benign |
Het |
| Vmn2r86 |
T |
A |
10: 130,284,443 (GRCm39) |
|
probably benign |
Het |
| Xrn1 |
A |
G |
9: 95,863,814 (GRCm39) |
|
probably benign |
Het |
| Zfp251 |
C |
T |
15: 76,738,436 (GRCm39) |
R219Q |
possibly 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 |
|
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 |
|
|
R9386:Tsc1
|
UTSW |
2 |
28,561,858 (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'- CCTGCGCTCTCACTACAGTATGAAG -3'
(R):5'- TGCTCACAGAGTCAGTAGCTCTCTC -3'
Sequencing Primer
(F):5'- acaacaacaacaacaacaacaac -3'
(R):5'- CAGTAGCTCTCTCTGAGGAGTG -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation