Incidental Mutation 'R7677:Tsc1'
ID |
592485 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tsc1
|
Ensembl Gene |
ENSMUSG00000026812 |
Gene Name |
TSC complex subunit 1 |
Synonyms |
tuberous sclerosis 1, hamartin |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7677 (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 28562829 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 393
(T393A)
|
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: T392A
PolyPhen 2
Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000028155 Gene: ENSMUSG00000026812 AA Change: T392A
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: T392A
PolyPhen 2
Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000109498 Gene: ENSMUSG00000026812 AA Change: T392A
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: T393A
PolyPhen 2
Score 0.111 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000109500 Gene: ENSMUSG00000026812 AA Change: T393A
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: T392A
PolyPhen 2
Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000109501 Gene: ENSMUSG00000026812 AA Change: T392A
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: ENSMUST00000133565
AA Change: T393A
PolyPhen 2
Score 0.702 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000120888 Gene: ENSMUSG00000026812 AA Change: T393A
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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
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: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
A |
T |
11: 9,248,349 (GRCm39) |
R2699* |
probably null |
Het |
Adra2a |
G |
A |
19: 54,035,375 (GRCm39) |
V244M |
probably damaging |
Het |
Apba2 |
A |
G |
7: 64,344,845 (GRCm39) |
S12G |
probably benign |
Het |
Arhgap20 |
T |
A |
9: 51,751,698 (GRCm39) |
M383K |
probably damaging |
Het |
Armc12 |
T |
C |
17: 28,756,865 (GRCm39) |
V210A |
probably benign |
Het |
Ash1l |
A |
T |
3: 88,950,500 (GRCm39) |
H2131L |
probably damaging |
Het |
Atg5 |
T |
C |
10: 44,223,035 (GRCm39) |
L219P |
probably damaging |
Het |
Atp2c2 |
A |
T |
8: 120,474,915 (GRCm39) |
M507L |
probably benign |
Het |
Atr |
T |
A |
9: 95,767,515 (GRCm39) |
L1191I |
probably damaging |
Het |
B4galt5 |
T |
C |
2: 167,146,998 (GRCm39) |
T279A |
probably damaging |
Het |
Bglap2 |
T |
C |
3: 88,285,280 (GRCm39) |
E62G |
probably damaging |
Het |
Card6 |
A |
G |
15: 5,127,926 (GRCm39) |
S1157P |
unknown |
Het |
Ccdc17 |
T |
C |
4: 116,454,962 (GRCm39) |
|
probably null |
Het |
Cdc6 |
T |
A |
11: 98,810,191 (GRCm39) |
L500* |
probably null |
Het |
Dst |
G |
T |
1: 34,208,403 (GRCm39) |
|
probably null |
Het |
Fbxw7 |
C |
T |
3: 84,811,373 (GRCm39) |
T166I |
|
Het |
Fer1l6 |
T |
C |
15: 58,474,139 (GRCm39) |
V955A |
probably benign |
Het |
Fezf2 |
T |
C |
14: 12,344,941 (GRCm38) |
E82G |
probably benign |
Het |
Flii |
T |
C |
11: 60,610,971 (GRCm39) |
D486G |
probably damaging |
Het |
Fndc3a |
T |
C |
14: 72,804,854 (GRCm39) |
T476A |
probably benign |
Het |
Gbp3 |
C |
T |
3: 142,266,264 (GRCm39) |
|
probably benign |
Het |
Hebp2 |
T |
C |
10: 18,421,547 (GRCm39) |
|
probably benign |
Het |
Hhipl2 |
T |
A |
1: 183,204,951 (GRCm39) |
M88K |
possibly damaging |
Het |
Hip1 |
A |
G |
5: 135,459,171 (GRCm39) |
C605R |
probably benign |
Het |
Hoxd13 |
T |
C |
2: 74,498,909 (GRCm39) |
S86P |
probably benign |
Het |
Hspa12a |
G |
T |
19: 58,849,317 (GRCm39) |
A2E |
probably benign |
Het |
Il1rl1 |
A |
C |
1: 40,485,864 (GRCm39) |
*338C |
probably null |
Het |
Lrrc37a |
G |
T |
11: 103,390,464 (GRCm39) |
P1654T |
probably benign |
Het |
Mybpc3 |
A |
T |
2: 90,959,376 (GRCm39) |
D704V |
probably benign |
Het |
Napsa |
A |
T |
7: 44,231,130 (GRCm39) |
K120* |
probably null |
Het |
Nat3 |
A |
C |
8: 68,000,139 (GRCm39) |
Y6S |
probably damaging |
Het |
Negr1 |
C |
T |
3: 156,774,823 (GRCm39) |
Q180* |
probably null |
Het |
Nynrin |
T |
A |
14: 56,107,693 (GRCm39) |
D933E |
probably benign |
Het |
Or10al3 |
T |
A |
17: 38,011,957 (GRCm39) |
I132K |
probably damaging |
Het |
Or10c1 |
A |
T |
17: 37,522,386 (GRCm39) |
Y119* |
probably null |
Het |
Or2l5 |
G |
A |
16: 19,333,678 (GRCm39) |
A236V |
probably benign |
Het |
Or6k2 |
A |
T |
1: 173,986,614 (GRCm39) |
I92F |
probably damaging |
Het |
Or8b1c |
T |
A |
9: 38,384,831 (GRCm39) |
S263T |
possibly damaging |
Het |
Or8c16 |
T |
A |
9: 38,130,324 (GRCm39) |
N65K |
probably damaging |
Het |
Or9s23 |
C |
T |
1: 92,500,983 (GRCm39) |
T30I |
not run |
Het |
Pbx1 |
A |
T |
1: 168,030,995 (GRCm39) |
F208I |
probably damaging |
Het |
Pcdha11 |
T |
C |
18: 37,144,605 (GRCm39) |
V232A |
probably damaging |
Het |
Pcsk5 |
A |
G |
19: 17,558,593 (GRCm39) |
Y605H |
possibly damaging |
Het |
Pde3a |
T |
A |
6: 141,195,983 (GRCm39) |
L223Q |
probably damaging |
Het |
Peg10 |
CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG |
CCACATCAGGATCCACATCAGGATGCACATCAG |
6: 4,756,398 (GRCm39) |
|
probably benign |
Het |
Pitpnm2 |
G |
A |
5: 124,261,632 (GRCm39) |
R977C |
probably damaging |
Het |
Pkdrej |
A |
C |
15: 85,699,788 (GRCm39) |
D2049E |
probably benign |
Het |
Psmd6 |
T |
C |
14: 14,120,837 (GRCm38) |
D16G |
probably benign |
Het |
Pth2r |
C |
A |
1: 65,427,605 (GRCm39) |
T426N |
probably benign |
Het |
Ralgapa1 |
G |
T |
12: 55,705,928 (GRCm39) |
L1865M |
probably damaging |
Het |
Ryr3 |
T |
A |
2: 112,664,245 (GRCm39) |
Q1702L |
probably benign |
Het |
Sars2 |
A |
G |
7: 28,446,176 (GRCm39) |
Y135C |
probably benign |
Het |
Sdha |
G |
A |
13: 74,481,172 (GRCm39) |
R345* |
probably null |
Het |
Selp |
A |
T |
1: 163,961,525 (GRCm39) |
S413C |
probably damaging |
Het |
Sirt2 |
G |
A |
7: 28,484,835 (GRCm39) |
C221Y |
probably damaging |
Het |
Skic2 |
A |
T |
17: 35,067,140 (GRCm39) |
S100T |
probably benign |
Het |
Socs7 |
C |
A |
11: 97,280,468 (GRCm39) |
Q566K |
probably benign |
Het |
Spdye4c |
G |
A |
2: 128,436,056 (GRCm39) |
V151M |
probably benign |
Het |
Srcap |
A |
G |
7: 127,158,980 (GRCm39) |
D2952G |
unknown |
Het |
Srd5a2 |
A |
T |
17: 74,354,749 (GRCm39) |
L25Q |
probably damaging |
Het |
Srrt |
A |
T |
5: 137,298,410 (GRCm39) |
V254D |
probably damaging |
Het |
Tap2 |
T |
C |
17: 34,424,494 (GRCm39) |
F76L |
probably benign |
Het |
Tdpoz4 |
T |
A |
3: 93,704,815 (GRCm39) |
*371R |
probably null |
Het |
Tm9sf3 |
A |
T |
19: 41,209,743 (GRCm39) |
F441I |
probably damaging |
Het |
Tmem259 |
C |
T |
10: 79,814,414 (GRCm39) |
R314Q |
probably damaging |
Het |
Trim28 |
G |
T |
7: 12,762,040 (GRCm39) |
R312L |
possibly damaging |
Het |
Txndc11 |
CCCGCCGCCGCCGCCGC |
CCCGCCGCCGCCGC |
16: 10,952,338 (GRCm39) |
|
probably benign |
Het |
Ube2v2 |
T |
C |
16: 15,398,964 (GRCm39) |
T42A |
probably benign |
Het |
Vmn2r-ps158 |
A |
C |
7: 42,674,163 (GRCm39) |
H414P |
probably damaging |
Het |
Zfp609 |
A |
T |
9: 65,604,456 (GRCm39) |
S1342R |
possibly damaging |
Het |
Zg16 |
A |
T |
7: 126,649,763 (GRCm39) |
V66E |
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 |
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'- CACTGAGGCTGATCTGGATTC -3'
(R):5'- ACCTTGAGAGCCTGGTCTGTAC -3'
Sequencing Primer
(F):5'- TCTGAGAAGTTAACTGGATCACC -3'
(R):5'- CTGTACCGTGACCTATGCTAAGG -3'
|
Posted On |
2019-11-12 |