Incidental Mutation 'R1807:Tsc1'
| ID |
203506 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tsc1
|
| Ensembl Gene |
ENSMUSG00000026812 |
| Gene Name |
TSC complex subunit 1 |
| Synonyms |
tuberous sclerosis 1, hamartin |
| MMRRC Submission |
039836-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1807 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
28531240-28581179 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 28576125 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 978
(D978G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109500
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028155]
[ENSMUST00000113867]
[ENSMUST00000113869]
[ENSMUST00000113870]
[ENSMUST00000133565]
|
| AlphaFold |
Q9EP53 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028155
AA Change: D977G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000028155
Gene: ENSMUSG00000026812
AA Change: D977G
| 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: D972G
PolyPhen 2
Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000109498
Gene: ENSMUSG00000026812
AA Change: D972G
| 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: D978G
PolyPhen 2
Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000109500
Gene: ENSMUSG00000026812
AA Change: D978G
| 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: D977G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000109501
Gene: ENSMUSG00000026812
AA Change: D977G
| 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: ENSMUST00000133565
|
| SMART Domains |
Protein: ENSMUSP00000120888
Gene: ENSMUSG00000026812
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hamartin
|
2 |
455 |
1.3e-198 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.7%
- 10x: 94.7%
- 20x: 90.7%
|
| Validation Efficiency |
97% (77/79) |
| 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 |
|---|
| 2310061I04Rik |
C |
T |
17: 36,205,961 (GRCm39) |
W27* |
probably null |
Het |
| 4933430I17Rik |
T |
A |
4: 62,460,993 (GRCm39) |
Y289* |
probably null |
Het |
| A3galt2 |
A |
G |
4: 128,661,394 (GRCm39) |
I348V |
probably benign |
Het |
| Abca13 |
A |
G |
11: 9,241,755 (GRCm39) |
Y1206C |
probably damaging |
Het |
| Adar |
T |
C |
3: 89,642,172 (GRCm39) |
S18P |
probably benign |
Het |
| Akr1cl |
T |
C |
1: 65,061,106 (GRCm39) |
D139G |
possibly damaging |
Het |
| Aldh1b1 |
A |
G |
4: 45,802,873 (GRCm39) |
Y137C |
possibly damaging |
Het |
| Arsa |
T |
C |
15: 89,359,525 (GRCm39) |
M86V |
possibly damaging |
Het |
| Atg9b |
C |
A |
5: 24,592,055 (GRCm39) |
R648L |
probably damaging |
Het |
| Atrn |
A |
G |
2: 130,824,692 (GRCm39) |
N1042S |
possibly damaging |
Het |
| Ccdc6 |
T |
A |
10: 70,010,989 (GRCm39) |
D325E |
possibly damaging |
Het |
| Cdk12 |
T |
C |
11: 98,101,203 (GRCm39) |
S354P |
unknown |
Het |
| Chst3 |
T |
A |
10: 60,022,130 (GRCm39) |
Y239F |
probably benign |
Het |
| Cilp2 |
C |
A |
8: 70,334,844 (GRCm39) |
R718L |
probably damaging |
Het |
| Col27a1 |
A |
G |
4: 63,249,586 (GRCm39) |
|
probably benign |
Het |
| Ctbp2 |
T |
C |
7: 132,616,137 (GRCm39) |
N266S |
probably benign |
Het |
| Ctnnd2 |
T |
C |
15: 30,620,017 (GRCm39) |
V123A |
probably damaging |
Het |
| Cyria |
G |
A |
12: 12,411,505 (GRCm39) |
R123Q |
probably benign |
Het |
| D7Ertd443e |
T |
A |
7: 133,895,034 (GRCm39) |
E552V |
probably null |
Het |
| Dcst1 |
T |
A |
3: 89,260,848 (GRCm39) |
H516L |
probably damaging |
Het |
| Depp1 |
G |
A |
6: 116,628,683 (GRCm39) |
V9M |
possibly damaging |
Het |
| Drd2 |
C |
T |
9: 49,316,367 (GRCm39) |
L376F |
probably damaging |
Het |
| Edn1 |
A |
G |
13: 42,460,270 (GRCm39) |
N175S |
probably damaging |
Het |
| Eipr1 |
G |
T |
12: 28,816,838 (GRCm39) |
G65V |
probably damaging |
Het |
| Epha4 |
G |
A |
1: 77,351,541 (GRCm39) |
P905S |
probably benign |
Het |
| Erbb2 |
T |
C |
11: 98,319,680 (GRCm39) |
Y591H |
probably damaging |
Het |
| Fam135b |
G |
A |
15: 71,335,761 (GRCm39) |
R478C |
probably benign |
Het |
| Fat2 |
T |
C |
11: 55,180,085 (GRCm39) |
T1419A |
probably damaging |
Het |
| Flnb |
C |
T |
14: 7,934,645 (GRCm38) |
T2239I |
probably benign |
Het |
| Gm7713 |
T |
C |
15: 59,866,320 (GRCm39) |
|
noncoding transcript |
Het |
| Hsf5 |
C |
T |
11: 87,548,168 (GRCm39) |
P617L |
probably benign |
Het |
| Kcnk12 |
C |
A |
17: 88,053,468 (GRCm39) |
R398L |
probably benign |
Het |
| Kif21b |
T |
A |
1: 136,075,531 (GRCm39) |
N219K |
possibly damaging |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Klra5 |
A |
T |
6: 129,876,383 (GRCm39) |
F141L |
probably benign |
Het |
| Lmtk3 |
C |
T |
7: 45,442,702 (GRCm39) |
P462S |
probably benign |
Het |
| Mast2 |
A |
G |
4: 116,167,938 (GRCm39) |
|
probably benign |
Het |
| Me1 |
T |
A |
9: 86,532,932 (GRCm39) |
T197S |
probably damaging |
Het |
| Msr1 |
T |
A |
8: 40,072,948 (GRCm39) |
Q267L |
probably benign |
Het |
| Nfic |
T |
C |
10: 81,240,819 (GRCm39) |
T328A |
probably benign |
Het |
| Nphp3 |
G |
A |
9: 103,897,940 (GRCm39) |
D390N |
probably benign |
Het |
| Nr2e1 |
T |
A |
10: 42,458,905 (GRCm39) |
|
probably null |
Het |
| Nt5el |
A |
T |
13: 105,218,744 (GRCm39) |
Q26L |
probably benign |
Het |
| Or52e19b |
T |
A |
7: 103,032,790 (GRCm39) |
N140Y |
probably benign |
Het |
| Or5t9 |
T |
A |
2: 86,659,445 (GRCm39) |
F116L |
probably benign |
Het |
| Pard6b |
T |
C |
2: 167,929,332 (GRCm39) |
L46P |
probably damaging |
Het |
| Prkaa1 |
T |
A |
15: 5,173,436 (GRCm39) |
L20Q |
probably damaging |
Het |
| Rapgefl1 |
T |
C |
11: 98,736,815 (GRCm39) |
|
probably null |
Het |
| Recql5 |
T |
C |
11: 115,785,941 (GRCm39) |
K611E |
possibly damaging |
Het |
| Rexo1 |
A |
T |
10: 80,378,413 (GRCm39) |
I1180N |
possibly damaging |
Het |
| Rnf26rt |
A |
G |
6: 76,474,397 (GRCm39) |
V73A |
probably benign |
Het |
| Rph3a |
T |
C |
5: 121,083,456 (GRCm39) |
N605D |
probably damaging |
Het |
| Sema6a |
A |
G |
18: 47,409,491 (GRCm39) |
V592A |
possibly damaging |
Het |
| Skint11 |
A |
T |
4: 114,051,893 (GRCm39) |
R80S |
probably benign |
Het |
| Smpdl3a |
C |
A |
10: 57,677,118 (GRCm39) |
P72H |
probably damaging |
Het |
| Sobp |
T |
G |
10: 43,036,822 (GRCm39) |
M39L |
possibly damaging |
Het |
| Sparcl1 |
T |
A |
5: 104,233,627 (GRCm39) |
Y574F |
probably damaging |
Het |
| Spns3 |
C |
T |
11: 72,429,166 (GRCm39) |
W206* |
probably null |
Het |
| Srf |
A |
G |
17: 46,864,685 (GRCm39) |
V190A |
possibly damaging |
Het |
| Stag1 |
T |
G |
9: 100,790,719 (GRCm39) |
H742Q |
probably benign |
Het |
| Strn3 |
A |
T |
12: 51,673,986 (GRCm39) |
S542T |
probably benign |
Het |
| Synpo2 |
T |
C |
3: 122,873,906 (GRCm39) |
E1020G |
possibly damaging |
Het |
| Tcerg1l |
T |
A |
7: 137,996,826 (GRCm39) |
H137L |
probably benign |
Het |
| Tlr12 |
A |
T |
4: 128,511,229 (GRCm39) |
D340E |
probably benign |
Het |
| Tmem130 |
T |
A |
5: 144,692,174 (GRCm39) |
T77S |
probably benign |
Het |
| Tmem143 |
C |
A |
7: 45,547,037 (GRCm39) |
R68S |
probably damaging |
Het |
| Tnrc6a |
CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT |
CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT |
7: 122,761,669 (GRCm39) |
|
probably benign |
Het |
| Trem1 |
G |
T |
17: 48,548,663 (GRCm39) |
G67* |
probably null |
Het |
| Txndc9 |
A |
T |
1: 38,033,096 (GRCm39) |
H95Q |
probably damaging |
Het |
| Yju2b |
C |
T |
8: 84,986,936 (GRCm39) |
R187Q |
probably damaging |
Het |
| Zfp35 |
T |
A |
18: 24,136,986 (GRCm39) |
N443K |
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 |
|
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 |
|
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'- ACTCACTGGAAAGGTGTGGG -3'
(R):5'- GCAGCTACATGTAAGAGTTTCAC -3'
Sequencing Primer
(F):5'- CACTGGAAAGGTGTGGGTGTTG -3'
(R):5'- ACACCTGGAGCTATGCTGGATG -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation