Incidental Mutation 'R9731:Tsc1'
| ID |
731370 |
| 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 # |
R9731 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
28531240-28581179 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 28566486 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 635
(D635G)
|
| 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: D634G
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000028155
Gene: ENSMUSG00000026812
AA Change: D634G
| 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 |
possibly damaging
Transcript: ENSMUST00000113867
AA Change: D634G
PolyPhen 2
Score 0.541 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000109498
Gene: ENSMUSG00000026812
AA Change: D634G
| 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: D635G
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000109500
Gene: ENSMUSG00000026812
AA Change: D635G
| 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: D634G
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000109501
Gene: ENSMUSG00000026812
AA Change: D634G
| 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: 99.5%
- 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930522H14Rik |
T |
G |
4: 109,362,918 (GRCm39) |
S134R |
probably damaging |
Het |
| A930033H14Rik |
T |
A |
10: 69,048,679 (GRCm39) |
R53W |
unknown |
Het |
| Abca9 |
G |
T |
11: 110,025,024 (GRCm39) |
D1006E |
probably benign |
Het |
| Abcc6 |
T |
A |
7: 45,669,660 (GRCm39) |
R132* |
probably null |
Het |
| Ankrd40 |
C |
T |
11: 94,229,250 (GRCm39) |
T283I |
probably damaging |
Het |
| Atr |
A |
G |
9: 95,747,092 (GRCm39) |
K125E |
possibly damaging |
Het |
| Bean1 |
CT |
C |
8: 104,908,664 (GRCm39) |
|
probably null |
Het |
| Cep290 |
A |
T |
10: 100,346,404 (GRCm39) |
L527F |
probably damaging |
Het |
| Cep295 |
T |
C |
9: 15,245,262 (GRCm39) |
N1065D |
possibly damaging |
Het |
| Clip2 |
C |
T |
5: 134,533,616 (GRCm39) |
R487Q |
probably benign |
Het |
| Ddx54 |
C |
T |
5: 120,758,807 (GRCm39) |
A350V |
probably benign |
Het |
| Defb23 |
C |
T |
2: 152,301,333 (GRCm39) |
V80I |
probably benign |
Het |
| Dennd5b |
G |
A |
6: 148,970,138 (GRCm39) |
T127I |
probably damaging |
Het |
| Dnah6 |
G |
T |
6: 73,168,589 (GRCm39) |
Q445K |
probably benign |
Het |
| Dync2h1 |
T |
C |
9: 7,141,166 (GRCm39) |
H1287R |
probably benign |
Het |
| Enpp7 |
G |
A |
11: 118,879,151 (GRCm39) |
G37R |
probably damaging |
Het |
| Exoc2 |
T |
C |
13: 31,061,233 (GRCm39) |
T554A |
probably benign |
Het |
| Fgf8 |
T |
C |
19: 45,730,846 (GRCm39) |
N60D |
probably benign |
Het |
| Gdi2 |
A |
G |
13: 3,588,299 (GRCm39) |
M1V |
probably null |
Het |
| Glra3 |
G |
T |
8: 56,542,058 (GRCm39) |
R267L |
probably damaging |
Het |
| Gm21886 |
ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG |
ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG |
18: 80,133,040 (GRCm39) |
|
probably benign |
Het |
| Gm40460 |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 141,794,554 (GRCm39) |
|
probably benign |
Het |
| Greb1 |
C |
T |
12: 16,738,598 (GRCm39) |
R1455H |
probably damaging |
Het |
| Grk6 |
C |
A |
13: 55,607,640 (GRCm39) |
P575T |
possibly damaging |
Het |
| Hpgd |
A |
T |
8: 56,751,391 (GRCm39) |
D73V |
probably benign |
Het |
| Hpse |
G |
A |
5: 100,842,022 (GRCm39) |
H288Y |
probably damaging |
Het |
| Hpse2 |
G |
A |
19: 42,794,826 (GRCm39) |
R506* |
probably null |
Het |
| Ing1 |
C |
A |
8: 11,611,649 (GRCm39) |
T123N |
probably benign |
Het |
| Kdm2b |
T |
C |
5: 123,125,823 (GRCm39) |
D27G |
probably benign |
Het |
| Kmt2c |
A |
T |
5: 25,577,956 (GRCm39) |
D773E |
probably benign |
Het |
| Lrrc7 |
T |
C |
3: 157,880,888 (GRCm39) |
D516G |
probably benign |
Het |
| Lrsam1 |
A |
G |
2: 32,835,452 (GRCm39) |
|
probably null |
Het |
| Mcm5 |
C |
T |
8: 75,844,168 (GRCm39) |
S313F |
probably benign |
Het |
| Meak7 |
C |
A |
8: 120,498,010 (GRCm39) |
A165S |
probably benign |
Het |
| Ndufaf3 |
T |
C |
9: 108,443,158 (GRCm39) |
*186W |
probably null |
Het |
| Ndufaf5 |
C |
T |
2: 140,012,807 (GRCm39) |
A59V |
possibly damaging |
Het |
| Nphp3 |
T |
C |
9: 103,886,369 (GRCm39) |
L281S |
probably damaging |
Het |
| Or10a4 |
T |
G |
7: 106,696,786 (GRCm39) |
V38G |
probably benign |
Het |
| Or4c12 |
T |
A |
2: 89,774,316 (GRCm39) |
I48F |
possibly damaging |
Het |
| Or8b37 |
A |
T |
9: 37,958,892 (GRCm39) |
I125F |
probably damaging |
Het |
| Otogl |
G |
T |
10: 107,735,328 (GRCm39) |
T152K |
probably damaging |
Het |
| Oxgr1 |
C |
T |
14: 120,260,094 (GRCm39) |
V38I |
probably benign |
Het |
| Polr2a |
G |
A |
11: 69,638,043 (GRCm39) |
T142M |
possibly damaging |
Het |
| Pou6f1 |
C |
T |
15: 100,476,206 (GRCm39) |
R560Q |
possibly damaging |
Het |
| Ptgr3 |
T |
G |
18: 84,113,128 (GRCm39) |
V268G |
probably damaging |
Het |
| Rbm33 |
A |
G |
5: 28,544,242 (GRCm39) |
E166G |
probably damaging |
Het |
| Rgs14 |
T |
A |
13: 55,528,784 (GRCm39) |
Y308* |
probably null |
Het |
| Rpl10a |
T |
C |
17: 28,547,594 (GRCm39) |
|
probably benign |
Het |
| Rras2 |
A |
C |
7: 113,659,593 (GRCm39) |
I57S |
probably damaging |
Het |
| Scn1b |
C |
T |
7: 30,824,596 (GRCm39) |
V31M |
probably damaging |
Het |
| Sema6d |
G |
A |
2: 124,506,117 (GRCm39) |
A642T |
probably damaging |
Het |
| Sis |
T |
A |
3: 72,835,543 (GRCm39) |
T940S |
probably benign |
Het |
| Slc14a1 |
C |
A |
18: 78,152,807 (GRCm39) |
A367S |
probably damaging |
Het |
| Slc22a27 |
G |
A |
19: 7,904,126 (GRCm39) |
Q4* |
probably null |
Het |
| Slc44a2 |
T |
A |
9: 21,263,770 (GRCm39) |
I646N |
possibly damaging |
Het |
| Sprtn |
C |
A |
8: 125,629,704 (GRCm39) |
Y332* |
probably null |
Het |
| Srpk1 |
A |
G |
17: 28,825,297 (GRCm39) |
I125T |
probably damaging |
Het |
| Sv2b |
G |
A |
7: 74,786,068 (GRCm39) |
H451Y |
probably benign |
Het |
| Tec |
G |
A |
5: 72,939,439 (GRCm39) |
T192M |
probably benign |
Het |
| Tlr3 |
G |
A |
8: 45,850,944 (GRCm39) |
T127M |
probably damaging |
Het |
| Trim25 |
C |
A |
11: 88,906,391 (GRCm39) |
P405T |
probably benign |
Het |
| Trpm4 |
T |
C |
7: 44,958,054 (GRCm39) |
D952G |
probably damaging |
Het |
| Ttc7b |
T |
C |
12: 100,461,683 (GRCm39) |
E98G |
possibly damaging |
Het |
| Ubr2 |
A |
G |
17: 47,274,071 (GRCm39) |
|
probably null |
Het |
| Usp19 |
T |
A |
9: 108,376,885 (GRCm39) |
S1153T |
probably damaging |
Het |
| Vmn2r63 |
A |
T |
7: 42,553,361 (GRCm39) |
L632M |
probably benign |
Het |
| Vps13c |
C |
T |
9: 67,826,526 (GRCm39) |
T1389I |
probably benign |
Het |
| Wasf1 |
T |
A |
10: 40,806,731 (GRCm39) |
Y125N |
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 |
|
|
R9780:Tsc1
|
UTSW |
2 |
28,565,761 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGCAGTGCTGATGTCAGTC -3'
(R):5'- CAAGCTGCCTTGGGTATAGG -3'
Sequencing Primer
(F):5'- AGGGATCGCCAGACTTCTCTG -3'
(R):5'- GTGGACAGGGTAGCTCTGCTC -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation