Incidental Mutation 'R9780:Tsc1'
| ID |
733951 |
| 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 # |
R9780 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
28531240-28581179 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 28565761 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 471
(E471K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109500
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028155]
[ENSMUST00000113867]
[ENSMUST00000113869]
[ENSMUST00000113870]
[ENSMUST00000133565]
[ENSMUST00000156857]
|
| AlphaFold |
Q9EP53 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028155
AA Change: E470K
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000028155
Gene: ENSMUSG00000026812
AA Change: E470K
| 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: ENSMUST00000113867
AA Change: E470K
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000109498
Gene: ENSMUSG00000026812
AA Change: E470K
| 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 damaging
Transcript: ENSMUST00000113869
AA Change: E471K
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000109500
Gene: ENSMUSG00000026812
AA Change: E471K
| 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 damaging
Transcript: ENSMUST00000113870
AA Change: E470K
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000109501
Gene: ENSMUSG00000026812
AA Change: E470K
| 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: ENSMUST00000133565
|
| SMART Domains |
Protein: ENSMUSP00000120888
Gene: ENSMUSG00000026812
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hamartin
|
2 |
455 |
1.3e-198 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156857
|
| SMART Domains |
Protein: ENSMUSP00000115380
Gene: ENSMUSG00000026812
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hamartin
|
2 |
348 |
2.3e-170 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.4%
- 20x: 98.4%
|
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
A |
G |
7: 119,911,447 (GRCm39) |
T1344A |
probably benign |
Het |
| Actrt3 |
T |
A |
3: 30,652,876 (GRCm39) |
I73F |
probably damaging |
Het |
| Ankrd24 |
T |
C |
10: 81,482,196 (GRCm39) |
S915P |
possibly damaging |
Het |
| Ano1 |
A |
T |
7: 144,209,358 (GRCm39) |
F281I |
probably damaging |
Het |
| Arhgap42 |
A |
G |
9: 9,059,102 (GRCm39) |
V148A |
probably benign |
Het |
| Arnt2 |
A |
G |
7: 83,954,426 (GRCm39) |
I256T |
probably benign |
Het |
| Bloc1s3 |
G |
A |
7: 19,241,408 (GRCm39) |
S40L |
possibly damaging |
Het |
| Cep68 |
G |
A |
11: 20,192,142 (GRCm39) |
P19L |
probably benign |
Het |
| Chst9 |
T |
A |
18: 15,586,221 (GRCm39) |
Q114L |
probably benign |
Het |
| Cpa2 |
T |
A |
6: 30,545,536 (GRCm39) |
F106I |
probably benign |
Het |
| Cplane1 |
A |
G |
15: 8,258,123 (GRCm39) |
E2123G |
probably benign |
Het |
| Crocc |
T |
C |
4: 140,756,556 (GRCm39) |
D1187G |
probably benign |
Het |
| Dhx8 |
A |
T |
11: 101,632,403 (GRCm39) |
D454V |
possibly damaging |
Het |
| Dusp9 |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
X: 72,684,217 (GRCm39) |
|
probably benign |
Het |
| Eif3a |
A |
T |
19: 60,766,398 (GRCm39) |
L310H |
probably damaging |
Het |
| Ergic3 |
C |
A |
2: 155,853,164 (GRCm39) |
Y202* |
probably null |
Het |
| Fam117a |
A |
T |
11: 95,268,309 (GRCm39) |
I237L |
possibly damaging |
Het |
| Fcsk |
T |
C |
8: 111,613,743 (GRCm39) |
M773V |
probably benign |
Het |
| Gcnt4 |
T |
A |
13: 97,083,948 (GRCm39) |
S415T |
probably benign |
Het |
| Hacl1 |
C |
A |
14: 31,362,519 (GRCm39) |
V43L |
possibly damaging |
Het |
| Hbb-bh2 |
A |
G |
7: 103,489,624 (GRCm39) |
L4P |
probably damaging |
Het |
| Hmbs |
A |
G |
9: 44,247,985 (GRCm39) |
L357P |
probably damaging |
Het |
| Hpcal1 |
A |
G |
12: 17,836,494 (GRCm39) |
Y108C |
probably damaging |
Het |
| Hspa14 |
A |
T |
2: 3,490,741 (GRCm39) |
M482K |
probably damaging |
Het |
| Ifi27l2b |
G |
T |
12: 103,417,461 (GRCm39) |
P242Q |
unknown |
Het |
| Insyn1 |
A |
G |
9: 58,406,881 (GRCm39) |
N264D |
probably damaging |
Het |
| Itpr1 |
T |
C |
6: 108,487,795 (GRCm39) |
V2407A |
probably benign |
Het |
| Lcp1 |
T |
C |
14: 75,440,178 (GRCm39) |
F154S |
probably damaging |
Het |
| Lmod2 |
T |
C |
6: 24,604,233 (GRCm39) |
S403P |
probably damaging |
Het |
| Lrrc63 |
G |
A |
14: 75,360,500 (GRCm39) |
A334V |
probably damaging |
Het |
| Lrriq1 |
T |
A |
10: 103,025,824 (GRCm39) |
T933S |
probably damaging |
Het |
| Mga |
A |
G |
2: 119,747,253 (GRCm39) |
Y468C |
probably benign |
Het |
| Msh4 |
T |
C |
3: 153,582,342 (GRCm39) |
Y510C |
probably damaging |
Het |
| Myh11 |
T |
C |
16: 14,064,613 (GRCm39) |
K235R |
|
Het |
| Nek2 |
A |
T |
1: 191,554,738 (GRCm39) |
D150V |
probably damaging |
Het |
| Nfkbil1 |
C |
A |
17: 35,439,898 (GRCm39) |
R205L |
possibly damaging |
Het |
| Nox3 |
A |
G |
17: 3,736,260 (GRCm39) |
F122S |
possibly damaging |
Het |
| Nrxn1 |
A |
G |
17: 90,931,042 (GRCm39) |
V718A |
possibly damaging |
Het |
| Oplah |
A |
G |
15: 76,181,940 (GRCm39) |
I1061T |
probably damaging |
Het |
| Or13e8 |
G |
A |
4: 43,697,193 (GRCm39) |
|
probably benign |
Het |
| Or2y16 |
G |
A |
11: 49,335,014 (GRCm39) |
C112Y |
possibly damaging |
Het |
| Or51b17 |
A |
G |
7: 103,542,631 (GRCm39) |
S104P |
probably damaging |
Het |
| Or9m1 |
A |
G |
2: 87,733,426 (GRCm39) |
L198P |
probably damaging |
Het |
| Pcf11 |
A |
T |
7: 92,313,313 (GRCm39) |
D123E |
possibly damaging |
Het |
| Pcna |
C |
T |
2: 132,094,794 (GRCm39) |
E55K |
probably benign |
Het |
| Pip5k1c |
T |
C |
10: 81,141,030 (GRCm39) |
V46A |
probably benign |
Het |
| Plce1 |
T |
G |
19: 38,609,134 (GRCm39) |
L481R |
possibly damaging |
Het |
| Psma7 |
A |
T |
2: 179,678,339 (GRCm39) |
Y228N |
unknown |
Het |
| Rcbtb1 |
T |
A |
14: 59,465,796 (GRCm39) |
Y380N |
probably benign |
Het |
| Rin2 |
A |
T |
2: 145,718,551 (GRCm39) |
E677V |
probably damaging |
Het |
| Scgb2b11 |
A |
G |
7: 31,909,861 (GRCm39) |
L75P |
probably damaging |
Het |
| Scn4a |
A |
G |
11: 106,226,235 (GRCm39) |
V775A |
probably damaging |
Het |
| Setx |
A |
G |
2: 29,016,999 (GRCm39) |
D34G |
possibly damaging |
Het |
| Slc38a9 |
A |
T |
13: 112,862,591 (GRCm39) |
D430V |
probably damaging |
Het |
| Snapc4 |
A |
T |
2: 26,267,019 (GRCm39) |
N77K |
possibly damaging |
Het |
| Stk32a |
T |
G |
18: 43,375,049 (GRCm39) |
F20V |
probably benign |
Het |
| Taf1b |
G |
A |
12: 24,564,818 (GRCm39) |
G145D |
probably damaging |
Het |
| Tomt |
G |
C |
7: 101,549,536 (GRCm39) |
Q251E |
probably benign |
Het |
| Ttll9 |
G |
A |
2: 152,836,023 (GRCm39) |
A256T |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,774,289 (GRCm39) |
C2252S |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,785,035 (GRCm39) |
D797E |
unknown |
Het |
| Usf3 |
T |
A |
16: 44,039,181 (GRCm39) |
N1220K |
possibly damaging |
Het |
| Usp22 |
A |
T |
11: 61,050,069 (GRCm39) |
H355Q |
probably benign |
Het |
| Virma |
T |
A |
4: 11,513,442 (GRCm39) |
V432E |
possibly damaging |
Het |
| Vtn |
A |
C |
11: 78,393,003 (GRCm39) |
D456A |
probably damaging |
Het |
| Zbbx |
A |
G |
3: 74,945,359 (GRCm39) |
S688P |
probably damaging |
Het |
| Zfhx2 |
C |
A |
14: 55,312,494 (GRCm39) |
D67Y |
probably benign |
Het |
| Zfp87 |
T |
C |
13: 67,665,241 (GRCm39) |
H407R |
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 |
|
|
R9386:Tsc1
|
UTSW |
2 |
28,561,858 (GRCm39) |
missense |
probably benign |
|
|
R9731:Tsc1
|
UTSW |
2 |
28,566,486 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGGAAGAACTGTTGCCGATG -3'
(R):5'- CTGTAAACACTCAGCCAGGC -3'
Sequencing Primer
(F):5'- AAGAACTGTTGCCGATGTGTATG -3'
(R):5'- CGTTTGTGCACTACAGGGAAC -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation