Incidental Mutation 'R3899:Mtus1'
ID |
308870 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mtus1
|
Ensembl Gene |
ENSMUSG00000045636 |
Gene Name |
mitochondrial tumor suppressor 1 |
Synonyms |
MTSG1, B430305I03Rik, MD44, Atip1 |
MMRRC Submission |
040809-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.241)
|
Stock # |
R3899 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
41443951-41586763 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 41536166 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 517
(T517A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000119440
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059115]
[ENSMUST00000118835]
[ENSMUST00000145860]
[ENSMUST00000155055]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000059115
AA Change: T517A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000059503 Gene: ENSMUSG00000045636 AA Change: T517A
Domain | Start | End | E-Value | Type |
low complexity region
|
524 |
539 |
N/A |
INTRINSIC |
coiled coil region
|
876 |
938 |
N/A |
INTRINSIC |
SCOP:d1eq1a_
|
1021 |
1156 |
3e-7 |
SMART |
low complexity region
|
1195 |
1209 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000118835
AA Change: T517A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000112626 Gene: ENSMUSG00000045636 AA Change: T517A
Domain | Start | End | E-Value | Type |
low complexity region
|
524 |
539 |
N/A |
INTRINSIC |
coiled coil region
|
876 |
938 |
N/A |
INTRINSIC |
SCOP:d1eq1a_
|
1021 |
1156 |
3e-7 |
SMART |
low complexity region
|
1195 |
1209 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000143853
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000145860
AA Change: T517A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000119440 Gene: ENSMUSG00000045636 AA Change: T517A
Domain | Start | End | E-Value | Type |
low complexity region
|
524 |
539 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000155055
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
Validation Efficiency |
98% (62/63) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which contains a C-terminal domain able to interact with the angiotension II (AT2) receptor and a large coiled-coil region allowing dimerization. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. One of the transcript variants has been shown to encode a mitochondrial protein that acts as a tumor suppressor and partcipates in AT2 signaling pathways. Other variants may encode nuclear or transmembrane proteins but it has not been determined whether they also participate in AT2 signaling pathways. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for a gene trap allele exhibit spontaneous heart hypertrophy and SLE-like lymphoproliferative disease. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acss2 |
A |
G |
2: 155,399,157 (GRCm39) |
|
probably benign |
Het |
Ahctf1 |
A |
G |
1: 179,605,345 (GRCm39) |
S730P |
possibly damaging |
Het |
Ankrd26 |
T |
A |
6: 118,526,389 (GRCm39) |
R327S |
probably benign |
Het |
Anpep |
A |
G |
7: 79,488,973 (GRCm39) |
S372P |
probably benign |
Het |
Apob |
A |
T |
12: 8,065,849 (GRCm39) |
I4273F |
possibly damaging |
Het |
Ascl1 |
G |
T |
10: 87,328,435 (GRCm39) |
H172Q |
probably benign |
Het |
Azi2 |
A |
G |
9: 117,876,571 (GRCm39) |
Y29C |
probably damaging |
Het |
Baz1a |
A |
G |
12: 54,981,589 (GRCm39) |
M355T |
probably benign |
Het |
Brs3 |
G |
A |
X: 56,092,616 (GRCm39) |
V367M |
possibly damaging |
Het |
Ccdc33 |
T |
C |
9: 57,940,200 (GRCm39) |
D524G |
probably damaging |
Het |
Cd300lf |
T |
C |
11: 115,015,177 (GRCm39) |
T138A |
probably damaging |
Het |
Cemip2 |
A |
G |
19: 21,829,598 (GRCm39) |
T1236A |
probably benign |
Het |
Ces1g |
T |
C |
8: 94,029,678 (GRCm39) |
Y518C |
probably damaging |
Het |
Chek2 |
C |
T |
5: 111,013,479 (GRCm39) |
|
probably benign |
Het |
Cherp |
A |
G |
8: 73,223,780 (GRCm39) |
I201T |
possibly damaging |
Het |
Cntnap2 |
A |
T |
6: 45,968,837 (GRCm39) |
H193L |
probably benign |
Het |
Crim1 |
C |
A |
17: 78,588,783 (GRCm39) |
T286N |
probably benign |
Het |
Cwc27 |
T |
A |
13: 104,929,023 (GRCm39) |
K307* |
probably null |
Het |
Dbx2 |
T |
C |
15: 95,530,313 (GRCm39) |
D218G |
possibly damaging |
Het |
Dclk1 |
G |
A |
3: 55,154,750 (GRCm39) |
R60Q |
probably damaging |
Het |
Dnah17 |
A |
T |
11: 117,985,634 (GRCm39) |
I1481N |
possibly damaging |
Het |
Dnah8 |
G |
A |
17: 31,073,872 (GRCm39) |
R4514H |
probably damaging |
Het |
Dpp10 |
A |
T |
1: 123,281,286 (GRCm39) |
W588R |
probably damaging |
Het |
Epg5 |
G |
A |
18: 78,000,725 (GRCm39) |
E554K |
probably damaging |
Het |
Eya1 |
T |
C |
1: 14,340,971 (GRCm39) |
T139A |
probably benign |
Het |
Fchsd2 |
A |
G |
7: 100,841,006 (GRCm39) |
K172E |
possibly damaging |
Het |
Foxd3 |
A |
G |
4: 99,545,736 (GRCm39) |
Y292C |
unknown |
Het |
Gli1 |
C |
T |
10: 127,172,535 (GRCm39) |
M202I |
possibly damaging |
Het |
Gm973 |
T |
C |
1: 59,664,299 (GRCm39) |
Y634H |
probably benign |
Het |
Gpr132 |
G |
T |
12: 112,815,728 (GRCm39) |
A366E |
probably benign |
Het |
Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
Kcnq3 |
C |
T |
15: 65,902,372 (GRCm39) |
M201I |
probably benign |
Het |
Khdc3 |
T |
C |
9: 73,011,628 (GRCm39) |
|
probably benign |
Het |
Lrrc37a |
A |
G |
11: 103,388,372 (GRCm39) |
V2351A |
unknown |
Het |
Mmrn2 |
G |
T |
14: 34,121,517 (GRCm39) |
|
probably null |
Het |
Mtr |
A |
T |
13: 12,231,735 (GRCm39) |
N656K |
probably benign |
Het |
Osgep |
G |
C |
14: 51,162,200 (GRCm39) |
N12K |
probably damaging |
Het |
Pcare |
A |
T |
17: 72,057,155 (GRCm39) |
C841S |
probably benign |
Het |
Prdx3 |
T |
A |
19: 60,853,621 (GRCm39) |
T235S |
probably benign |
Het |
Rasa3 |
G |
A |
8: 13,628,635 (GRCm39) |
H608Y |
probably benign |
Het |
Rd3 |
T |
C |
1: 191,717,217 (GRCm39) |
V114A |
probably damaging |
Het |
Setd2 |
C |
T |
9: 110,421,586 (GRCm39) |
R273W |
probably damaging |
Het |
Slc24a1 |
A |
T |
9: 64,835,426 (GRCm39) |
S900R |
probably damaging |
Het |
Slc30a5 |
T |
C |
13: 100,954,655 (GRCm39) |
M170V |
probably benign |
Het |
Slc4a9 |
T |
C |
18: 36,668,616 (GRCm39) |
V732A |
probably benign |
Het |
Slc7a2 |
C |
T |
8: 41,358,590 (GRCm39) |
T311M |
possibly damaging |
Het |
Smarcc1 |
T |
C |
9: 109,947,586 (GRCm39) |
|
probably benign |
Het |
Stk32b |
A |
G |
5: 37,614,498 (GRCm39) |
S337P |
probably damaging |
Het |
Thop1 |
G |
A |
10: 80,916,278 (GRCm39) |
G429S |
probably damaging |
Het |
Timp2 |
C |
T |
11: 118,194,542 (GRCm39) |
D139N |
probably damaging |
Het |
Tmem45a |
T |
C |
16: 56,627,101 (GRCm39) |
E256G |
probably damaging |
Het |
Tox4 |
T |
A |
14: 52,517,299 (GRCm39) |
Y10N |
probably damaging |
Het |
Trpm3 |
A |
G |
19: 22,878,524 (GRCm39) |
M642V |
possibly damaging |
Het |
Ttll10 |
T |
C |
4: 156,120,257 (GRCm39) |
T508A |
probably damaging |
Het |
Tut7 |
T |
A |
13: 59,937,069 (GRCm39) |
K791* |
probably null |
Het |
Ubash3b |
C |
T |
9: 40,942,860 (GRCm39) |
D211N |
probably benign |
Het |
Usp36 |
T |
A |
11: 118,170,650 (GRCm39) |
D28V |
possibly damaging |
Het |
Vmn2r97 |
T |
C |
17: 19,167,873 (GRCm39) |
I709T |
probably damaging |
Het |
Zfp936 |
T |
A |
7: 42,839,158 (GRCm39) |
N207K |
possibly damaging |
Het |
Zfp946 |
T |
G |
17: 22,673,531 (GRCm39) |
I95S |
probably benign |
Het |
Zhx3 |
A |
T |
2: 160,622,371 (GRCm39) |
S599T |
possibly damaging |
Het |
|
Other mutations in Mtus1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00708:Mtus1
|
APN |
8 |
41,537,386 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01377:Mtus1
|
APN |
8 |
41,536,172 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL01472:Mtus1
|
APN |
8 |
41,455,449 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01995:Mtus1
|
APN |
8 |
41,537,457 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02027:Mtus1
|
APN |
8 |
41,446,638 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02381:Mtus1
|
APN |
8 |
41,536,156 (GRCm39) |
missense |
probably benign |
0.05 |
IGL02571:Mtus1
|
APN |
8 |
41,536,519 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL02936:Mtus1
|
APN |
8 |
41,452,554 (GRCm39) |
missense |
possibly damaging |
0.79 |
R0116:Mtus1
|
UTSW |
8 |
41,451,514 (GRCm39) |
unclassified |
probably benign |
|
R0139:Mtus1
|
UTSW |
8 |
41,469,233 (GRCm39) |
splice site |
probably benign |
|
R0178:Mtus1
|
UTSW |
8 |
41,455,398 (GRCm39) |
missense |
possibly damaging |
0.94 |
R0179:Mtus1
|
UTSW |
8 |
41,455,398 (GRCm39) |
missense |
possibly damaging |
0.94 |
R0220:Mtus1
|
UTSW |
8 |
41,447,609 (GRCm39) |
missense |
probably damaging |
1.00 |
R0324:Mtus1
|
UTSW |
8 |
41,537,432 (GRCm39) |
missense |
probably benign |
|
R0355:Mtus1
|
UTSW |
8 |
41,535,965 (GRCm39) |
missense |
probably benign |
0.02 |
R0357:Mtus1
|
UTSW |
8 |
41,536,563 (GRCm39) |
missense |
possibly damaging |
0.71 |
R0464:Mtus1
|
UTSW |
8 |
41,455,511 (GRCm39) |
missense |
probably damaging |
0.96 |
R0681:Mtus1
|
UTSW |
8 |
41,446,554 (GRCm39) |
missense |
probably damaging |
1.00 |
R1016:Mtus1
|
UTSW |
8 |
41,503,063 (GRCm39) |
missense |
probably benign |
0.43 |
R1570:Mtus1
|
UTSW |
8 |
41,529,278 (GRCm39) |
missense |
probably damaging |
1.00 |
R1579:Mtus1
|
UTSW |
8 |
41,535,895 (GRCm39) |
missense |
probably damaging |
1.00 |
R1607:Mtus1
|
UTSW |
8 |
41,468,446 (GRCm39) |
missense |
possibly damaging |
0.58 |
R1869:Mtus1
|
UTSW |
8 |
41,529,267 (GRCm39) |
critical splice donor site |
probably null |
|
R1888:Mtus1
|
UTSW |
8 |
41,537,362 (GRCm39) |
missense |
probably damaging |
0.96 |
R1888:Mtus1
|
UTSW |
8 |
41,537,362 (GRCm39) |
missense |
probably damaging |
0.96 |
R1891:Mtus1
|
UTSW |
8 |
41,537,362 (GRCm39) |
missense |
probably damaging |
0.96 |
R1894:Mtus1
|
UTSW |
8 |
41,537,362 (GRCm39) |
missense |
probably damaging |
0.96 |
R2063:Mtus1
|
UTSW |
8 |
41,535,745 (GRCm39) |
missense |
probably damaging |
1.00 |
R2111:Mtus1
|
UTSW |
8 |
41,475,608 (GRCm39) |
missense |
probably damaging |
1.00 |
R2112:Mtus1
|
UTSW |
8 |
41,475,608 (GRCm39) |
missense |
probably damaging |
1.00 |
R2224:Mtus1
|
UTSW |
8 |
41,535,812 (GRCm39) |
missense |
probably damaging |
1.00 |
R2226:Mtus1
|
UTSW |
8 |
41,535,812 (GRCm39) |
missense |
probably damaging |
1.00 |
R2227:Mtus1
|
UTSW |
8 |
41,535,812 (GRCm39) |
missense |
probably damaging |
1.00 |
R2516:Mtus1
|
UTSW |
8 |
41,535,776 (GRCm39) |
missense |
probably damaging |
1.00 |
R3414:Mtus1
|
UTSW |
8 |
41,501,100 (GRCm39) |
missense |
probably damaging |
1.00 |
R4096:Mtus1
|
UTSW |
8 |
41,537,284 (GRCm39) |
missense |
probably damaging |
0.99 |
R4831:Mtus1
|
UTSW |
8 |
41,536,189 (GRCm39) |
missense |
probably damaging |
1.00 |
R4850:Mtus1
|
UTSW |
8 |
41,537,507 (GRCm39) |
missense |
possibly damaging |
0.81 |
R4916:Mtus1
|
UTSW |
8 |
41,453,838 (GRCm39) |
missense |
probably damaging |
1.00 |
R4940:Mtus1
|
UTSW |
8 |
41,494,515 (GRCm39) |
missense |
possibly damaging |
0.52 |
R4988:Mtus1
|
UTSW |
8 |
41,537,578 (GRCm39) |
missense |
probably benign |
0.05 |
R5133:Mtus1
|
UTSW |
8 |
41,536,229 (GRCm39) |
missense |
probably benign |
0.00 |
R5468:Mtus1
|
UTSW |
8 |
41,537,615 (GRCm39) |
missense |
probably benign |
0.00 |
R5598:Mtus1
|
UTSW |
8 |
41,475,592 (GRCm39) |
missense |
probably damaging |
1.00 |
R5782:Mtus1
|
UTSW |
8 |
41,535,764 (GRCm39) |
missense |
probably damaging |
1.00 |
R5860:Mtus1
|
UTSW |
8 |
41,529,303 (GRCm39) |
missense |
probably damaging |
0.99 |
R5900:Mtus1
|
UTSW |
8 |
41,536,534 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5943:Mtus1
|
UTSW |
8 |
41,537,302 (GRCm39) |
missense |
probably benign |
0.00 |
R6019:Mtus1
|
UTSW |
8 |
41,536,077 (GRCm39) |
missense |
probably benign |
0.33 |
R6125:Mtus1
|
UTSW |
8 |
41,537,576 (GRCm39) |
missense |
probably damaging |
0.99 |
R6197:Mtus1
|
UTSW |
8 |
41,537,074 (GRCm39) |
missense |
possibly damaging |
0.90 |
R6488:Mtus1
|
UTSW |
8 |
41,494,545 (GRCm39) |
missense |
possibly damaging |
0.52 |
R6869:Mtus1
|
UTSW |
8 |
41,535,691 (GRCm39) |
missense |
possibly damaging |
0.71 |
R7117:Mtus1
|
UTSW |
8 |
41,536,621 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7126:Mtus1
|
UTSW |
8 |
41,468,439 (GRCm39) |
missense |
probably damaging |
0.98 |
R7213:Mtus1
|
UTSW |
8 |
41,537,524 (GRCm39) |
missense |
probably damaging |
0.99 |
R7308:Mtus1
|
UTSW |
8 |
41,535,965 (GRCm39) |
missense |
probably benign |
0.02 |
R7424:Mtus1
|
UTSW |
8 |
41,475,443 (GRCm39) |
missense |
probably damaging |
1.00 |
R7481:Mtus1
|
UTSW |
8 |
41,537,652 (GRCm39) |
missense |
probably damaging |
0.99 |
R7485:Mtus1
|
UTSW |
8 |
41,537,590 (GRCm39) |
missense |
probably benign |
0.37 |
R7660:Mtus1
|
UTSW |
8 |
41,469,248 (GRCm39) |
missense |
probably benign |
|
R7699:Mtus1
|
UTSW |
8 |
41,537,006 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7700:Mtus1
|
UTSW |
8 |
41,537,006 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7709:Mtus1
|
UTSW |
8 |
41,507,687 (GRCm39) |
missense |
possibly damaging |
0.81 |
R7791:Mtus1
|
UTSW |
8 |
41,536,417 (GRCm39) |
missense |
possibly damaging |
0.88 |
R8196:Mtus1
|
UTSW |
8 |
41,509,689 (GRCm39) |
missense |
probably benign |
|
R8463:Mtus1
|
UTSW |
8 |
41,536,271 (GRCm39) |
missense |
probably benign |
0.01 |
R8724:Mtus1
|
UTSW |
8 |
41,451,500 (GRCm39) |
missense |
probably damaging |
0.99 |
R9047:Mtus1
|
UTSW |
8 |
41,536,760 (GRCm39) |
missense |
possibly damaging |
0.94 |
R9092:Mtus1
|
UTSW |
8 |
41,455,475 (GRCm39) |
missense |
probably damaging |
1.00 |
R9283:Mtus1
|
UTSW |
8 |
41,536,519 (GRCm39) |
missense |
probably benign |
0.02 |
R9313:Mtus1
|
UTSW |
8 |
41,535,923 (GRCm39) |
missense |
probably damaging |
0.99 |
R9329:Mtus1
|
UTSW |
8 |
41,537,239 (GRCm39) |
missense |
probably damaging |
1.00 |
R9603:Mtus1
|
UTSW |
8 |
41,536,795 (GRCm39) |
missense |
probably benign |
0.04 |
R9711:Mtus1
|
UTSW |
8 |
41,536,222 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- GAATGAGTTGTAACTTGCGCAG -3'
(R):5'- GCTAAACGTGCACCAAACTTG -3'
Sequencing Primer
(F):5'- CCTGGCTGGTAATGAGTTTATTAAAC -3'
(R):5'- CGTGCACCAAACTTGAAAGG -3'
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Posted On |
2015-04-17 |