Incidental Mutation 'R9088:Tsc1'
| ID |
690734 |
| 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 # |
R9088 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
28531240-28581179 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 28552617 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 119
(C119S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109500
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028155]
[ENSMUST00000113867]
[ENSMUST00000113869]
[ENSMUST00000113870]
[ENSMUST00000133565]
[ENSMUST00000156857]
|
| AlphaFold |
Q9EP53 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000028155
AA Change: C119S
PolyPhen 2
Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000028155
Gene: ENSMUSG00000026812
AA Change: C119S
| 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 damaging
Transcript: ENSMUST00000113867
AA Change: C119S
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000109498
Gene: ENSMUSG00000026812
AA Change: C119S
| 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 |
possibly damaging
Transcript: ENSMUST00000113869
AA Change: C119S
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000109500
Gene: ENSMUSG00000026812
AA Change: C119S
| 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 |
possibly damaging
Transcript: ENSMUST00000113870
AA Change: C119S
PolyPhen 2
Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000109501
Gene: ENSMUSG00000026812
AA Change: C119S
| 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 damaging
Transcript: ENSMUST00000133565
AA Change: C119S
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000120888
Gene: ENSMUSG00000026812
AA Change: C119S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hamartin
|
2 |
455 |
1.3e-198 |
PFAM |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000115380
Gene: ENSMUSG00000026812
AA Change: C119S
| 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: 98.9%
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ak9 |
A |
G |
10: 41,282,870 (GRCm39) |
Y1212C |
|
Het |
| Asah2 |
T |
C |
19: 32,030,360 (GRCm39) |
Q104R |
probably damaging |
Het |
| Bnipl |
T |
A |
3: 95,158,295 (GRCm39) |
R9* |
probably null |
Het |
| Bpifa3 |
A |
C |
2: 153,975,685 (GRCm39) |
N85T |
possibly damaging |
Het |
| C6 |
T |
C |
15: 4,792,956 (GRCm39) |
Y354H |
probably damaging |
Het |
| Caln1 |
A |
T |
5: 130,443,617 (GRCm39) |
|
probably benign |
Het |
| Capn3 |
T |
C |
2: 120,321,451 (GRCm39) |
F378L |
probably benign |
Het |
| Car6 |
T |
C |
4: 150,281,806 (GRCm39) |
H125R |
probably damaging |
Het |
| Ccdc110 |
G |
A |
8: 46,394,882 (GRCm39) |
E258K |
probably damaging |
Het |
| Cep295 |
C |
A |
9: 15,233,815 (GRCm39) |
R2327L |
probably benign |
Het |
| Col14a1 |
T |
A |
15: 55,226,923 (GRCm39) |
D224E |
unknown |
Het |
| Col16a1 |
T |
A |
4: 129,971,016 (GRCm39) |
S938T |
unknown |
Het |
| Col4a2 |
A |
G |
8: 11,493,227 (GRCm39) |
E1340G |
possibly damaging |
Het |
| Col6a6 |
C |
T |
9: 105,661,276 (GRCm39) |
V278M |
probably damaging |
Het |
| Crybg2 |
T |
A |
4: 133,799,890 (GRCm39) |
L41Q |
probably damaging |
Het |
| Ctss |
A |
T |
3: 95,436,867 (GRCm39) |
D50V |
possibly damaging |
Het |
| Ddx56 |
C |
T |
11: 6,209,612 (GRCm39) |
A500T |
probably benign |
Het |
| Dmbt1 |
T |
C |
7: 130,718,418 (GRCm39) |
V1713A |
unknown |
Het |
| Dnah1 |
T |
C |
14: 30,987,970 (GRCm39) |
I3483V |
probably benign |
Het |
| E130308A19Rik |
T |
A |
4: 59,737,594 (GRCm39) |
F402I |
probably benign |
Het |
| Eml6 |
A |
T |
11: 29,768,424 (GRCm39) |
H754Q |
probably damaging |
Het |
| Ern2 |
A |
G |
7: 121,772,890 (GRCm39) |
Y576H |
probably damaging |
Het |
| Fat4 |
T |
C |
3: 39,061,448 (GRCm39) |
S4344P |
probably benign |
Het |
| Fbxo40 |
A |
G |
16: 36,790,150 (GRCm39) |
I320T |
|
Het |
| Fbxw22 |
C |
T |
9: 109,207,952 (GRCm39) |
D440N |
probably damaging |
Het |
| Fgd2 |
A |
G |
17: 29,583,913 (GRCm39) |
E109G |
probably damaging |
Het |
| Gm19410 |
A |
T |
8: 36,240,766 (GRCm39) |
D214V |
probably damaging |
Het |
| Hivep2 |
T |
C |
10: 14,006,995 (GRCm39) |
Y1198H |
probably damaging |
Het |
| Itpr3 |
G |
A |
17: 27,337,651 (GRCm39) |
|
probably benign |
Het |
| Lrrc37 |
T |
C |
11: 103,511,762 (GRCm39) |
K69E |
unknown |
Het |
| Lrrc8e |
G |
A |
8: 4,284,410 (GRCm39) |
V212M |
probably damaging |
Het |
| Map2 |
A |
T |
1: 66,453,773 (GRCm39) |
S888C |
probably damaging |
Het |
| Met |
G |
T |
6: 17,548,715 (GRCm39) |
G920* |
probably null |
Het |
| Mlkl |
G |
T |
8: 112,049,365 (GRCm39) |
R253S |
|
Het |
| Mmachc |
T |
A |
4: 116,561,829 (GRCm39) |
I102F |
probably damaging |
Het |
| Mnt |
G |
T |
11: 74,733,880 (GRCm39) |
V504L |
unknown |
Het |
| Mup14 |
C |
T |
4: 61,258,496 (GRCm39) |
G96D |
probably damaging |
Het |
| Myh13 |
G |
A |
11: 67,242,885 (GRCm39) |
E933K |
probably damaging |
Het |
| Ncoa6 |
A |
G |
2: 155,249,726 (GRCm39) |
S1193P |
probably damaging |
Het |
| Nek10 |
T |
C |
14: 14,931,314 (GRCm38) |
I762T |
probably damaging |
Het |
| Nmur1 |
G |
T |
1: 86,315,252 (GRCm39) |
F204L |
probably benign |
Het |
| Or1ak2 |
A |
G |
2: 36,827,988 (GRCm39) |
N286D |
probably damaging |
Het |
| Or52e15 |
G |
T |
7: 104,645,301 (GRCm39) |
P270Q |
probably damaging |
Het |
| Or8a1 |
T |
A |
9: 37,641,806 (GRCm39) |
I158F |
probably damaging |
Het |
| Pappa2 |
T |
C |
1: 158,763,927 (GRCm39) |
Y528C |
probably damaging |
Het |
| Patl1 |
T |
C |
19: 11,920,289 (GRCm39) |
S748P |
possibly damaging |
Het |
| Peg10 |
C |
CTCA |
6: 4,756,453 (GRCm39) |
|
probably benign |
Het |
| Polr1a |
A |
G |
6: 71,908,767 (GRCm39) |
T531A |
probably benign |
Het |
| Slit3 |
C |
T |
11: 35,012,463 (GRCm39) |
S41F |
possibly damaging |
Het |
| Snap29 |
A |
G |
16: 17,246,058 (GRCm39) |
Q226R |
probably damaging |
Het |
| Spmip2 |
G |
A |
3: 79,337,429 (GRCm39) |
G185D |
probably damaging |
Het |
| Tmpo |
A |
G |
10: 90,989,138 (GRCm39) |
|
probably null |
Het |
| Tnfrsf21 |
G |
A |
17: 43,348,607 (GRCm39) |
G73E |
probably damaging |
Het |
| Uox |
A |
G |
3: 146,330,369 (GRCm39) |
Y199C |
probably damaging |
Het |
| Vav2 |
T |
C |
2: 27,187,708 (GRCm39) |
D231G |
possibly damaging |
Het |
| Vmn2r80 |
A |
T |
10: 79,005,378 (GRCm39) |
K338N |
probably benign |
Het |
| Xylt2 |
G |
A |
11: 94,561,229 (GRCm39) |
T178I |
probably benign |
Het |
| Zfp931 |
G |
T |
2: 177,709,594 (GRCm39) |
T264K |
probably damaging |
Het |
| Zgrf1 |
A |
G |
3: 127,377,326 (GRCm39) |
D857G |
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 |
|
|
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 |
|
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'- CAGACACTTCCAGGAAAATTTCTC -3'
(R):5'- AGAACATTGCACATTGAGAGCC -3'
Sequencing Primer
(F):5'- CACTTCCAGGAAAATTTCTCTTGATG -3'
(R):5'- GGTGGCTGATACCTGCAATTCTAAC -3'
|
| Posted On |
2021-12-30 |
Incidental Mutation