Incidental Mutation 'R6469:Tsc1'
ID |
520239 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tsc1
|
Ensembl Gene |
ENSMUSG00000026812 |
Gene Name |
TSC complex subunit 1 |
Synonyms |
tuberous sclerosis 1, hamartin |
MMRRC Submission |
044602-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6469 (G1)
|
Quality Score |
225.009 |
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 28561898 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000109501
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028155]
[ENSMUST00000113867]
[ENSMUST00000113869]
[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 |
noncoding transcript
Transcript: ENSMUST00000124507
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125715
|
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
AA Change: R345Q
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000115380 Gene: ENSMUSG00000026812 AA Change: R345Q
Domain | Start | End | E-Value | Type |
Pfam:Hamartin
|
2 |
348 |
2.3e-170 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153625
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139642
|
Meta Mutation Damage Score |
0.9044 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.2%
- 20x: 91.3%
|
Validation Efficiency |
100% (43/43) |
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
T |
G |
3: 137,772,736 (GRCm39) |
S642A |
probably damaging |
Het |
Aadacl2 |
A |
T |
3: 59,932,210 (GRCm39) |
T242S |
probably benign |
Het |
Adprh |
T |
C |
16: 38,270,671 (GRCm39) |
M45V |
probably benign |
Het |
Akr1c13 |
T |
C |
13: 4,246,511 (GRCm39) |
|
probably null |
Het |
Ap3d1 |
A |
C |
10: 80,547,992 (GRCm39) |
V900G |
probably benign |
Het |
Bak1 |
G |
A |
17: 27,240,293 (GRCm39) |
R125C |
probably damaging |
Het |
Bmpr1b |
T |
C |
3: 141,562,222 (GRCm39) |
T322A |
possibly damaging |
Het |
Camsap3 |
T |
A |
8: 3,653,941 (GRCm39) |
L521Q |
possibly damaging |
Het |
Col6a6 |
A |
T |
9: 105,575,890 (GRCm39) |
F2157I |
probably damaging |
Het |
Dcun1d4 |
G |
A |
5: 73,691,957 (GRCm39) |
M155I |
probably damaging |
Het |
Diaph3 |
T |
C |
14: 86,893,974 (GRCm39) |
S12G |
possibly damaging |
Het |
Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
Fgb |
A |
T |
3: 82,953,449 (GRCm39) |
L107* |
probably null |
Het |
Ganab |
T |
C |
19: 8,879,996 (GRCm39) |
|
probably null |
Het |
Gba1 |
C |
T |
3: 89,111,388 (GRCm39) |
P51L |
probably benign |
Het |
Glb1l2 |
T |
C |
9: 26,707,828 (GRCm39) |
D60G |
probably benign |
Het |
Idh3b |
AG |
AGCACCACAACTG |
2: 130,121,593 (GRCm39) |
|
probably null |
Het |
Itih2 |
A |
G |
2: 10,128,224 (GRCm39) |
V159A |
possibly damaging |
Het |
Kif1b |
T |
C |
4: 149,277,053 (GRCm39) |
M1337V |
probably benign |
Het |
Lrch1 |
C |
T |
14: 75,054,525 (GRCm39) |
R323Q |
probably damaging |
Het |
Lrrc30 |
T |
C |
17: 67,938,860 (GRCm39) |
N240S |
probably benign |
Het |
Mrgpra9 |
T |
C |
7: 46,884,854 (GRCm39) |
Y271C |
probably benign |
Het |
Ncor1 |
T |
C |
11: 62,234,128 (GRCm39) |
H682R |
probably damaging |
Het |
Or14j4 |
A |
T |
17: 37,921,204 (GRCm39) |
V146E |
probably damaging |
Het |
Pax9 |
C |
A |
12: 56,743,648 (GRCm39) |
F98L |
probably damaging |
Het |
Phlpp1 |
G |
A |
1: 106,214,833 (GRCm39) |
R585Q |
probably damaging |
Het |
Prkdc |
A |
G |
16: 15,612,939 (GRCm39) |
T3166A |
probably benign |
Het |
Prr11 |
T |
A |
11: 86,988,003 (GRCm39) |
Q300L |
possibly damaging |
Het |
Rad50 |
T |
A |
11: 53,575,062 (GRCm39) |
E620D |
probably benign |
Het |
Rpl3 |
A |
T |
15: 79,967,546 (GRCm39) |
|
probably null |
Het |
Sacs |
G |
T |
14: 61,428,697 (GRCm39) |
G252V |
probably damaging |
Het |
Serpina3i |
T |
A |
12: 104,232,776 (GRCm39) |
V227E |
probably damaging |
Het |
Smap2 |
GACTCTAC |
GAC |
4: 120,830,282 (GRCm39) |
|
probably benign |
Het |
Snx19 |
T |
C |
9: 30,339,039 (GRCm39) |
V59A |
possibly damaging |
Het |
St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
Tcstv2c |
T |
A |
13: 120,616,349 (GRCm39) |
W63R |
probably damaging |
Het |
Vmn2r61 |
C |
T |
7: 41,915,283 (GRCm39) |
Q77* |
probably null |
Het |
Wdr72 |
A |
G |
9: 74,120,643 (GRCm39) |
H954R |
probably benign |
Het |
Zbtb21 |
T |
C |
16: 97,757,972 (GRCm39) |
M20V |
probably benign |
Het |
Zkscan16 |
A |
T |
4: 58,956,483 (GRCm39) |
D255V |
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 |
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'- TCAGATGGTCTAGAGGACTGTG -3'
(R):5'- ACAAGTTGCATTTCAGGTGTCTG -3'
Sequencing Primer
(F):5'- GATTGTTTATCACAGTGACCTGGCAC -3'
(R):5'- TCAGGTGTCTGGGCTCCAAG -3'
|
Posted On |
2018-06-06 |