Incidental Mutation 'R9329:Mtus1'
| ID |
706727 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mtus1
|
| Ensembl Gene |
ENSMUSG00000045636 |
| Gene Name |
mitochondrial tumor suppressor 1 |
| Synonyms |
MTSG1, B430305I03Rik, MD44, Atip1 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.232)
|
| Stock # |
R9329 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
41443951-41586763 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 41537239 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 159
(T159I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112626
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059115]
[ENSMUST00000118835]
[ENSMUST00000145860]
[ENSMUST00000155055]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000059115
AA Change: T159I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000059503
Gene: ENSMUSG00000045636
AA Change: T159I
| 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 damaging
Transcript: ENSMUST00000118835
AA Change: T159I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112626
Gene: ENSMUSG00000045636
AA Change: T159I
| 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 damaging
Transcript: ENSMUST00000145860
AA Change: T159I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000119440
Gene: ENSMUSG00000045636
AA Change: T159I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
524 |
539 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155055
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
99% (73/74) |
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700003E16Rik |
T |
G |
6: 83,133,556 (GRCm39) |
M1R |
probably null |
Het |
| Acap2 |
T |
C |
16: 30,946,238 (GRCm39) |
D235G |
probably damaging |
Het |
| Adgrv1 |
C |
A |
13: 81,647,241 (GRCm39) |
V3100F |
probably damaging |
Het |
| Aff4 |
A |
G |
11: 53,288,686 (GRCm39) |
T401A |
probably damaging |
Het |
| Apcs |
T |
C |
1: 172,722,391 (GRCm39) |
T22A |
probably benign |
Het |
| Atf7ip2 |
T |
C |
16: 10,059,738 (GRCm39) |
V426A |
possibly damaging |
Het |
| Bach2 |
A |
G |
4: 32,562,175 (GRCm39) |
D214G |
possibly damaging |
Het |
| Baz2a |
C |
T |
10: 127,960,925 (GRCm39) |
A1578V |
possibly damaging |
Het |
| Camk1d |
T |
C |
2: 5,449,954 (GRCm39) |
I76V |
probably benign |
Het |
| Ccdc182 |
A |
T |
11: 88,185,324 (GRCm39) |
M135L |
probably benign |
Het |
| Cd47 |
C |
T |
16: 49,716,731 (GRCm39) |
T201I |
|
Het |
| Chodl |
T |
C |
16: 78,746,030 (GRCm39) |
S290P |
possibly damaging |
Het |
| Chst15 |
A |
G |
7: 131,868,520 (GRCm39) |
L300P |
possibly damaging |
Het |
| Ciita |
T |
C |
16: 10,324,571 (GRCm39) |
S168P |
probably damaging |
Het |
| Cntn2 |
C |
T |
1: 132,456,678 (GRCm39) |
V123I |
probably benign |
Het |
| Cyld |
T |
A |
8: 89,457,348 (GRCm39) |
L527Q |
probably benign |
Het |
| Dbn1 |
T |
A |
13: 55,631,241 (GRCm39) |
Y34F |
probably damaging |
Het |
| Enc1 |
C |
A |
13: 97,383,018 (GRCm39) |
Y509* |
probably null |
Het |
| Ermard |
A |
T |
17: 15,273,643 (GRCm39) |
E409D |
probably benign |
Het |
| Extl3 |
T |
C |
14: 65,314,765 (GRCm39) |
E139G |
possibly damaging |
Het |
| Fa2h |
A |
T |
8: 112,082,115 (GRCm39) |
V177E |
possibly damaging |
Het |
| Flot2 |
T |
C |
11: 77,949,772 (GRCm39) |
I367T |
probably damaging |
Het |
| Fras1 |
T |
C |
5: 96,884,813 (GRCm39) |
Y2564H |
probably damaging |
Het |
| Fxyd3 |
A |
G |
7: 30,773,018 (GRCm39) |
V10A |
probably benign |
Het |
| Gfra3 |
A |
G |
18: 34,837,560 (GRCm39) |
L146P |
probably damaging |
Het |
| Gm49359 |
T |
C |
13: 62,602,448 (GRCm39) |
N251D |
probably benign |
Het |
| Hps6 |
A |
G |
19: 45,992,542 (GRCm39) |
S160G |
probably benign |
Het |
| Hsd17b7 |
C |
A |
1: 169,794,875 (GRCm39) |
A55S |
probably damaging |
Het |
| Hspa12a |
T |
C |
19: 58,789,298 (GRCm39) |
D446G |
probably benign |
Het |
| Htt |
G |
A |
5: 34,989,957 (GRCm39) |
R1163Q |
possibly damaging |
Het |
| Ift81 |
T |
C |
5: 122,697,833 (GRCm39) |
|
probably null |
Het |
| Ighv5-15 |
T |
G |
12: 113,790,395 (GRCm39) |
Y75S |
probably benign |
Het |
| Kcnd2 |
T |
A |
6: 21,725,981 (GRCm39) |
H491Q |
probably damaging |
Het |
| Lamb3 |
C |
A |
1: 193,014,665 (GRCm39) |
T608K |
probably benign |
Het |
| Lrtm2 |
T |
A |
6: 119,297,412 (GRCm39) |
K210* |
probably null |
Het |
| Med13 |
G |
T |
11: 86,189,283 (GRCm39) |
P1209T |
probably benign |
Het |
| Myt1l |
A |
G |
12: 29,901,659 (GRCm39) |
M805V |
unknown |
Het |
| Neb |
G |
T |
2: 52,160,231 (GRCm39) |
L2261I |
probably benign |
Het |
| Nlrp4c |
G |
A |
7: 6,068,498 (GRCm39) |
R133H |
probably benign |
Het |
| Nol11 |
A |
T |
11: 107,071,765 (GRCm39) |
L276Q |
probably damaging |
Het |
| Nrap |
A |
G |
19: 56,350,277 (GRCm39) |
Y614H |
probably damaging |
Het |
| Or13c9 |
G |
A |
4: 52,936,211 (GRCm39) |
T24M |
probably damaging |
Het |
| Or52p1 |
A |
G |
7: 104,267,705 (GRCm39) |
H273R |
probably damaging |
Het |
| Pou2f3 |
A |
G |
9: 43,040,224 (GRCm39) |
S355P |
probably damaging |
Het |
| Ppm1l |
C |
A |
3: 69,460,453 (GRCm39) |
N343K |
probably damaging |
Het |
| Prh1 |
A |
T |
6: 132,548,573 (GRCm39) |
I27F |
unknown |
Het |
| Prkrip1 |
A |
T |
5: 136,223,203 (GRCm39) |
L85Q |
probably damaging |
Het |
| Pycr3 |
C |
T |
15: 75,790,563 (GRCm39) |
V99I |
probably benign |
Het |
| R3hdm4 |
T |
A |
10: 79,749,393 (GRCm39) |
N72I |
probably damaging |
Het |
| Rab11fip3 |
G |
T |
17: 26,231,032 (GRCm39) |
H738N |
probably benign |
Het |
| Rtl1 |
G |
A |
12: 109,556,673 (GRCm39) |
A1722V |
possibly damaging |
Het |
| Sell |
A |
G |
1: 163,893,122 (GRCm39) |
N113D |
probably damaging |
Het |
| Smarcal1 |
T |
C |
1: 72,665,697 (GRCm39) |
S732P |
probably damaging |
Het |
| Smurf2 |
A |
T |
11: 106,743,424 (GRCm39) |
D207E |
probably benign |
Het |
| Spata31h1 |
G |
A |
10: 82,121,439 (GRCm39) |
S3857L |
probably benign |
Het |
| Tat |
C |
T |
8: 110,723,510 (GRCm39) |
R333C |
probably benign |
Het |
| Tmem121b |
A |
T |
6: 120,469,234 (GRCm39) |
F494L |
probably damaging |
Het |
| Tmem198 |
C |
A |
1: 75,456,522 (GRCm39) |
P89Q |
probably damaging |
Het |
| Tnks2 |
T |
G |
19: 36,835,284 (GRCm39) |
C2G |
probably damaging |
Het |
| Trappc9 |
T |
C |
15: 72,673,202 (GRCm39) |
E869G |
unknown |
Het |
| Trim42 |
T |
A |
9: 97,251,584 (GRCm39) |
K105M |
probably benign |
Het |
| Ttll3 |
T |
C |
6: 113,369,635 (GRCm39) |
S60P |
probably benign |
Het |
| Ttll4 |
T |
A |
1: 74,725,121 (GRCm39) |
I625N |
possibly damaging |
Het |
| Tubgcp5 |
T |
A |
7: 55,479,181 (GRCm39) |
|
probably null |
Het |
| Txlnb |
A |
T |
10: 17,682,594 (GRCm39) |
Y172F |
probably damaging |
Het |
| Ube2e3 |
A |
T |
2: 78,744,035 (GRCm39) |
D88V |
possibly damaging |
Het |
| Vmn1r189 |
T |
A |
13: 22,286,430 (GRCm39) |
I136L |
probably benign |
Het |
| Vmn2r71 |
A |
G |
7: 85,267,950 (GRCm39) |
I135V |
probably benign |
Het |
| Vmn2r73 |
T |
A |
7: 85,519,073 (GRCm39) |
R516S |
probably benign |
Het |
| Wrn |
C |
T |
8: 33,731,006 (GRCm39) |
E1352K |
probably benign |
Het |
| Zfp318 |
T |
C |
17: 46,722,139 (GRCm39) |
S1381P |
probably damaging |
Het |
| Zfp747 |
A |
T |
7: 126,973,655 (GRCm39) |
Y172N |
probably 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 |
|
R3899:Mtus1
|
UTSW |
8 |
41,536,166 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
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'- GACTGTCAGTTTGCATCAGC -3'
(R):5'- GTCTCCTGCACTTGTGAACAC -3'
Sequencing Primer
(F):5'- CATCAGAGATCACTGTAAAGGTTGTG -3'
(R):5'- CTTGTGAACACAGGGAAGCCC -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation