Incidental Mutation 'R4794:Tsc1'
ID |
368822 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tsc1
|
Ensembl Gene |
ENSMUSG00000026812 |
Gene Name |
TSC complex subunit 1 |
Synonyms |
tuberous sclerosis 1, hamartin |
MMRRC Submission |
042420-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4794 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
28531240-28581179 bp(+) (GRCm39) |
Type of Mutation |
splice site (5 bp from exon) |
DNA Base Change (assembly) |
G to A
at 28551702 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000109501
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028155]
[ENSMUST00000113867]
[ENSMUST00000113869]
[ENSMUST00000113870]
[ENSMUST00000113870]
[ENSMUST00000133565]
[ENSMUST00000156857]
|
AlphaFold |
Q9EP53 |
Predicted Effect |
probably null
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 null
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 null
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 null
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 |
probably null
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 |
probably benign
Transcript: ENSMUST00000156857
|
SMART Domains |
Protein: ENSMUSP00000115380 Gene: ENSMUSG00000026812
Domain | Start | End | E-Value | Type |
Pfam:Hamartin
|
2 |
348 |
2.3e-170 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153625
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 92.5%
|
Validation Efficiency |
97% (75/77) |
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: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam4 |
A |
T |
12: 81,468,198 (GRCm39) |
I141K |
probably damaging |
Het |
Adgrb1 |
A |
G |
15: 74,459,978 (GRCm39) |
E537G |
probably damaging |
Het |
Asic3 |
C |
T |
5: 24,620,895 (GRCm39) |
A259V |
probably damaging |
Het |
Bcar1 |
G |
A |
8: 112,447,552 (GRCm39) |
Q142* |
probably null |
Het |
Bcas3 |
T |
C |
11: 85,400,294 (GRCm39) |
V200A |
probably damaging |
Het |
Cd302 |
A |
T |
2: 60,102,493 (GRCm39) |
I42N |
probably benign |
Het |
Colec12 |
C |
A |
18: 9,848,984 (GRCm39) |
N387K |
probably damaging |
Het |
Copa |
T |
A |
1: 171,946,888 (GRCm39) |
I1032N |
probably damaging |
Het |
D630003M21Rik |
G |
C |
2: 158,038,059 (GRCm39) |
T1129S |
probably benign |
Het |
D630045J12Rik |
G |
A |
6: 38,171,420 (GRCm39) |
T916I |
possibly damaging |
Het |
Dnajb13 |
C |
T |
7: 100,153,199 (GRCm39) |
A241T |
probably damaging |
Het |
Dyrk4 |
G |
T |
6: 126,862,300 (GRCm39) |
N397K |
possibly damaging |
Het |
Eftud2 |
T |
A |
11: 102,761,003 (GRCm39) |
Y114F |
probably benign |
Het |
Elp1 |
ACTTCTTCTTCTTCTTCTTCTTC |
ACTTCTTCTTCTTCTTCTTC |
4: 56,781,176 (GRCm39) |
|
probably benign |
Het |
Epm2a |
A |
G |
10: 11,266,597 (GRCm39) |
D114G |
probably benign |
Het |
Exoc5 |
T |
C |
14: 49,286,357 (GRCm39) |
|
probably null |
Het |
Fam135a |
G |
A |
1: 24,068,241 (GRCm39) |
T706I |
probably benign |
Het |
Fasn |
A |
G |
11: 120,702,121 (GRCm39) |
V1845A |
probably benign |
Het |
Fscn3 |
A |
G |
6: 28,430,595 (GRCm39) |
E255G |
probably damaging |
Het |
Galnt7 |
A |
T |
8: 57,998,397 (GRCm39) |
Y311N |
probably damaging |
Het |
Grid1 |
T |
C |
14: 34,544,579 (GRCm39) |
L50P |
probably damaging |
Het |
Hepacam2 |
A |
G |
6: 3,475,933 (GRCm39) |
F331L |
probably damaging |
Het |
Kalrn |
C |
T |
16: 33,810,180 (GRCm39) |
D2525N |
possibly damaging |
Het |
Kif1a |
T |
C |
1: 92,953,449 (GRCm39) |
Y1245C |
probably damaging |
Het |
Ltbp3 |
T |
C |
19: 5,806,707 (GRCm39) |
F1022L |
probably damaging |
Het |
Med16 |
G |
T |
10: 79,735,951 (GRCm39) |
T399N |
probably damaging |
Het |
Mfsd14a |
A |
T |
3: 116,439,155 (GRCm39) |
|
probably benign |
Het |
Myh7b |
G |
A |
2: 155,465,186 (GRCm39) |
V681I |
probably benign |
Het |
Ndc1 |
A |
G |
4: 107,247,419 (GRCm39) |
E409G |
probably benign |
Het |
Necap2 |
A |
G |
4: 140,798,912 (GRCm39) |
|
probably benign |
Het |
Or2a57 |
T |
A |
6: 43,212,629 (GRCm39) |
L29H |
probably damaging |
Het |
Or4p21 |
A |
T |
2: 88,276,691 (GRCm39) |
M197K |
probably benign |
Het |
Or7g29 |
C |
T |
9: 19,286,841 (GRCm39) |
S112N |
probably benign |
Het |
Parp12 |
G |
A |
6: 39,094,744 (GRCm39) |
T117I |
probably benign |
Het |
Pars2 |
C |
A |
4: 106,511,407 (GRCm39) |
C396* |
probably null |
Het |
Prg4 |
A |
T |
1: 150,330,297 (GRCm39) |
|
probably benign |
Het |
Prkg2 |
G |
A |
5: 99,114,492 (GRCm39) |
T523I |
probably damaging |
Het |
Prph |
T |
A |
15: 98,955,308 (GRCm39) |
L425Q |
probably damaging |
Het |
Ranbp9 |
A |
G |
13: 43,567,552 (GRCm39) |
Y549H |
probably damaging |
Het |
Rbm12 |
A |
T |
2: 155,937,489 (GRCm39) |
|
probably benign |
Het |
Reln |
T |
C |
5: 22,549,183 (GRCm39) |
Y75C |
probably damaging |
Het |
Rock2 |
G |
A |
12: 16,990,408 (GRCm39) |
R110H |
probably damaging |
Het |
Samd1 |
G |
A |
8: 84,726,346 (GRCm39) |
E468K |
probably damaging |
Het |
Samd11 |
T |
A |
4: 156,333,922 (GRCm39) |
Q173L |
probably damaging |
Het |
Scgb2b20 |
C |
A |
7: 33,065,151 (GRCm39) |
G37V |
probably damaging |
Het |
Sf1 |
C |
A |
19: 6,425,694 (GRCm39) |
|
probably benign |
Het |
Slc17a5 |
T |
A |
9: 78,481,997 (GRCm39) |
H183L |
probably damaging |
Het |
Slco1a7 |
A |
G |
6: 141,713,288 (GRCm39) |
V31A |
probably benign |
Het |
Smgc |
T |
A |
15: 91,725,657 (GRCm39) |
S13T |
probably benign |
Het |
Snapin |
A |
G |
3: 90,398,092 (GRCm39) |
|
probably benign |
Het |
Spata31e4 |
C |
G |
13: 50,857,275 (GRCm39) |
P971R |
probably benign |
Het |
Ssc5d |
C |
T |
7: 4,946,744 (GRCm39) |
P1033S |
probably benign |
Het |
Strn3 |
T |
C |
12: 51,696,954 (GRCm39) |
E259G |
probably benign |
Het |
Tbc1d32 |
A |
G |
10: 56,072,932 (GRCm39) |
F238L |
possibly damaging |
Het |
Tbck |
G |
A |
3: 132,392,729 (GRCm39) |
V57M |
possibly damaging |
Het |
Tgm3 |
A |
G |
2: 129,883,875 (GRCm39) |
D511G |
probably benign |
Het |
Tlr5 |
T |
C |
1: 182,801,461 (GRCm39) |
V241A |
probably benign |
Het |
Tmem181c-ps |
A |
G |
17: 6,887,754 (GRCm39) |
|
noncoding transcript |
Het |
Tnfrsf1a |
G |
A |
6: 125,335,047 (GRCm39) |
C168Y |
probably damaging |
Het |
Tph2 |
G |
T |
10: 115,018,675 (GRCm39) |
L79I |
possibly damaging |
Het |
Ttc14 |
A |
T |
3: 33,857,298 (GRCm39) |
M215L |
probably benign |
Het |
Ube3c |
A |
G |
5: 29,802,083 (GRCm39) |
N120S |
probably benign |
Het |
Ubr2 |
A |
T |
17: 47,241,371 (GRCm39) |
W1728R |
probably damaging |
Het |
Vnn1 |
A |
G |
10: 23,776,602 (GRCm39) |
T318A |
probably benign |
Het |
Washc2 |
T |
C |
6: 116,235,610 (GRCm39) |
V941A |
probably benign |
Het |
Wdfy3 |
A |
G |
5: 102,091,809 (GRCm39) |
V510A |
probably damaging |
Het |
Wdsub1 |
A |
T |
2: 59,693,188 (GRCm39) |
V272E |
possibly damaging |
Het |
Xylt1 |
A |
C |
7: 117,236,862 (GRCm39) |
D537A |
probably benign |
Het |
Zfp57 |
A |
G |
17: 37,321,022 (GRCm39) |
N292S |
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 |
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 |
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'- CCTTTTCTGACAGCCACTGAG -3'
(R):5'- GGTACGTTCAAAACCCCTACTC -3'
Sequencing Primer
(F):5'- TTCTGACAGCCACTGAGGGAAAAG -3'
(R):5'- CCTACTCAAAGCACAGGTTTAAAATC -3'
|
Posted On |
2016-02-04 |