Incidental Mutation 'R5708:Tsc1'
ID |
452061 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tsc1
|
Ensembl Gene |
ENSMUSG00000026812 |
Gene Name |
TSC complex subunit 1 |
Synonyms |
tuberous sclerosis 1, hamartin |
MMRRC Submission |
043333-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5708 (G1)
|
Quality Score |
196 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
28531240-28581179 bp(+) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
A to T
at 28555197 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000115380
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028155]
[ENSMUST00000113867]
[ENSMUST00000113869]
[ENSMUST00000113870]
[ENSMUST00000133565]
[ENSMUST00000156857]
|
AlphaFold |
Q9EP53 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000028155
|
SMART Domains |
Protein: ENSMUSP00000028155 Gene: ENSMUSG00000026812
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
|
SMART Domains |
Protein: ENSMUSP00000109498 Gene: ENSMUSG00000026812
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
|
SMART Domains |
Protein: ENSMUSP00000109500 Gene: ENSMUSG00000026812
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
|
SMART Domains |
Protein: ENSMUSP00000109501 Gene: ENSMUSG00000026812
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 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 |
noncoding transcript
Transcript: ENSMUST00000150274
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153625
|
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: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
Validation Efficiency |
98% (65/66) |
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700067K01Rik |
A |
G |
8: 84,729,627 (GRCm39) |
K101R |
probably benign |
Het |
4933430I17Rik |
T |
C |
4: 62,444,106 (GRCm39) |
S18P |
probably benign |
Het |
Adgb |
C |
T |
10: 10,267,501 (GRCm39) |
V940I |
probably damaging |
Het |
Aox4 |
G |
T |
1: 58,285,032 (GRCm39) |
A595S |
possibly damaging |
Het |
Asxl2 |
T |
A |
12: 3,550,603 (GRCm39) |
S782T |
possibly damaging |
Het |
C1s2 |
A |
T |
6: 124,602,702 (GRCm39) |
L503* |
probably null |
Het |
C7 |
A |
G |
15: 5,044,883 (GRCm39) |
V385A |
possibly damaging |
Het |
Cdh20 |
T |
C |
1: 104,912,635 (GRCm39) |
F630L |
probably damaging |
Het |
Cdk14 |
A |
C |
5: 5,316,036 (GRCm39) |
|
probably benign |
Het |
Cdkl4 |
T |
C |
17: 80,846,951 (GRCm39) |
I239M |
possibly damaging |
Het |
Cfap299 |
A |
T |
5: 98,885,566 (GRCm39) |
M158L |
probably benign |
Het |
Col11a1 |
A |
G |
3: 113,890,743 (GRCm39) |
N360S |
unknown |
Het |
D630003M21Rik |
A |
G |
2: 158,062,312 (GRCm39) |
|
probably null |
Het |
Dchs1 |
G |
A |
7: 105,422,016 (GRCm39) |
P135S |
probably damaging |
Het |
Dpysl2 |
A |
G |
14: 67,050,595 (GRCm39) |
S421P |
probably benign |
Het |
Edn1 |
A |
T |
13: 42,457,143 (GRCm39) |
M59L |
probably benign |
Het |
EU599041 |
A |
G |
7: 42,875,311 (GRCm39) |
|
noncoding transcript |
Het |
Furin |
A |
G |
7: 80,047,603 (GRCm39) |
|
probably benign |
Het |
Gkn2 |
T |
C |
6: 87,354,418 (GRCm39) |
L94P |
probably damaging |
Het |
Gmeb2 |
A |
T |
2: 180,906,782 (GRCm39) |
C117S |
probably damaging |
Het |
Greb1 |
T |
A |
12: 16,723,843 (GRCm39) |
I1869F |
probably benign |
Het |
Heg1 |
A |
G |
16: 33,562,774 (GRCm39) |
E1119G |
probably damaging |
Het |
Hmgcs2 |
T |
A |
3: 98,198,478 (GRCm39) |
L127Q |
probably damaging |
Het |
Insyn2a |
C |
A |
7: 134,520,525 (GRCm39) |
V2F |
probably damaging |
Het |
Kcnh6 |
A |
G |
11: 105,911,082 (GRCm39) |
R493G |
probably benign |
Het |
Kcnj11 |
C |
T |
7: 45,749,242 (GRCm39) |
R27H |
probably benign |
Het |
Klra14-ps |
A |
G |
6: 130,134,751 (GRCm39) |
|
noncoding transcript |
Het |
Lgmn |
A |
T |
12: 102,370,587 (GRCm39) |
N114K |
possibly damaging |
Het |
Lipg |
C |
T |
18: 75,088,505 (GRCm39) |
M148I |
possibly damaging |
Het |
Megf8 |
G |
T |
7: 25,034,022 (GRCm39) |
R607L |
probably benign |
Het |
Mks1 |
A |
G |
11: 87,747,665 (GRCm39) |
T183A |
probably benign |
Het |
Mllt11 |
A |
G |
3: 95,127,515 (GRCm39) |
V85A |
probably benign |
Het |
Mpo |
A |
T |
11: 87,692,581 (GRCm39) |
|
probably null |
Het |
Muc4 |
A |
T |
16: 32,575,515 (GRCm39) |
|
probably benign |
Het |
Myoz3 |
T |
C |
18: 60,712,104 (GRCm39) |
Y158C |
probably damaging |
Het |
Or11g25 |
A |
T |
14: 50,723,452 (GRCm39) |
D179V |
probably damaging |
Het |
Or4k41 |
A |
G |
2: 111,280,354 (GRCm39) |
R290G |
probably damaging |
Het |
Or5ae1 |
A |
G |
7: 84,565,391 (GRCm39) |
I135V |
possibly damaging |
Het |
Polq |
T |
A |
16: 36,881,380 (GRCm39) |
S902R |
probably damaging |
Het |
Rarb |
T |
C |
14: 16,548,545 (GRCm38) |
T93A |
probably damaging |
Het |
Rgs12 |
A |
G |
5: 35,123,696 (GRCm39) |
D493G |
probably benign |
Het |
Sec31b |
T |
A |
19: 44,511,583 (GRCm39) |
D606V |
probably damaging |
Het |
Setd2 |
T |
C |
9: 110,377,891 (GRCm39) |
F569L |
possibly damaging |
Het |
Sil1 |
T |
C |
18: 35,474,170 (GRCm39) |
E149G |
probably benign |
Het |
Spata13 |
T |
G |
14: 60,929,452 (GRCm39) |
S337A |
probably damaging |
Het |
Srfbp1 |
T |
A |
18: 52,622,018 (GRCm39) |
L360M |
probably damaging |
Het |
Tecta |
A |
T |
9: 42,250,222 (GRCm39) |
C1852S |
probably damaging |
Het |
Tgfbr3l |
A |
G |
8: 4,300,360 (GRCm39) |
T208A |
probably damaging |
Het |
Tmem38b |
G |
C |
4: 53,849,051 (GRCm39) |
|
probably null |
Het |
Tnfrsf11a |
T |
A |
1: 105,741,545 (GRCm39) |
|
probably null |
Het |
Tnik |
T |
A |
3: 28,666,120 (GRCm39) |
|
probably null |
Het |
Zfp930 |
T |
C |
8: 69,679,113 (GRCm39) |
V41A |
probably benign |
Het |
Zscan18 |
A |
T |
7: 12,508,383 (GRCm39) |
D372E |
probably benign |
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 |
|
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'- ACAGAAGTGTACCTGGTCCATC -3'
(R):5'- CGCACATGCTCCATCATTGG -3'
Sequencing Primer
(F):5'- AGAAGTGTACCTGGTCCATCTTCATG -3'
(R):5'- CATGCTCCATCATTGGCTAGAAGAG -3'
|
Posted On |
2017-01-03 |