Incidental Mutation 'R8463:Mtus1'
| ID |
656664 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mtus1
|
| Ensembl Gene |
ENSMUSG00000045636 |
| Gene Name |
mitochondrial tumor suppressor 1 |
| Synonyms |
MTSG1, B430305I03Rik, MD44, Atip1 |
| MMRRC Submission |
067907-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.232)
|
| Stock # |
R8463 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
41443951-41586763 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 41536271 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 482
(V482L)
|
| 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 benign
Transcript: ENSMUST00000059115
AA Change: V482L
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000059503
Gene: ENSMUSG00000045636
AA Change: V482L
| 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: V482L
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000112626
Gene: ENSMUSG00000045636
AA Change: V482L
| 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: V482L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000119440
Gene: ENSMUSG00000045636
AA Change: V482L
| 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 |
98% (64/65) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg4 |
T |
A |
9: 44,192,909 (GRCm39) |
I146F |
probably damaging |
Het |
| Adcy8 |
G |
T |
15: 64,792,874 (GRCm39) |
D27E |
probably benign |
Het |
| Ahnak |
A |
G |
19: 8,986,113 (GRCm39) |
I2466V |
probably benign |
Het |
| BC005624 |
T |
A |
2: 30,871,817 (GRCm39) |
E19V |
possibly damaging |
Het |
| Bnc2 |
A |
T |
4: 84,211,608 (GRCm39) |
F279I |
probably damaging |
Het |
| Bub1 |
A |
T |
2: 127,659,353 (GRCm39) |
L335M |
probably benign |
Het |
| Cdkn1c |
G |
A |
7: 143,014,324 (GRCm39) |
H41Y |
possibly damaging |
Het |
| Celsr1 |
G |
A |
15: 85,914,415 (GRCm39) |
P1186L |
probably damaging |
Het |
| Cnot2 |
A |
G |
10: 116,353,236 (GRCm39) |
L75S |
probably benign |
Het |
| Cntn6 |
A |
T |
6: 104,749,580 (GRCm39) |
E338D |
possibly damaging |
Het |
| Cracd |
GCGCGAGGCCGAGAGGCAGGAGGAGGAAGCAAGACAACGCGAGGCCGAGAGGCAGG |
GCGCGAGGCCGAGAGGCAGG |
5: 77,004,801 (GRCm39) |
|
probably benign |
Het |
| Dlg2 |
G |
T |
7: 91,617,441 (GRCm39) |
M289I |
probably benign |
Het |
| Dzip1l |
A |
T |
9: 99,519,875 (GRCm39) |
D134V |
possibly damaging |
Het |
| Fam171b |
A |
G |
2: 83,683,801 (GRCm39) |
Y106C |
probably damaging |
Het |
| Fgd3 |
T |
C |
13: 49,420,081 (GRCm39) |
K599E |
possibly damaging |
Het |
| Gabrr2 |
A |
T |
4: 33,084,375 (GRCm39) |
I154F |
probably damaging |
Het |
| Gjd2 |
T |
A |
2: 113,842,053 (GRCm39) |
E141D |
probably benign |
Het |
| Gmds |
T |
C |
13: 32,003,906 (GRCm39) |
N371S |
probably benign |
Het |
| Gp2 |
C |
T |
7: 119,053,554 (GRCm39) |
A136T |
probably damaging |
Het |
| Gstm2 |
A |
G |
3: 107,893,672 (GRCm39) |
|
probably null |
Het |
| Hnmt |
T |
C |
2: 23,938,836 (GRCm39) |
M1V |
probably null |
Het |
| Hydin |
T |
C |
8: 111,237,553 (GRCm39) |
V1942A |
probably benign |
Het |
| Krt87 |
C |
A |
15: 101,332,506 (GRCm39) |
A236S |
probably benign |
Het |
| Lama3 |
A |
T |
18: 12,582,896 (GRCm39) |
H654L |
probably damaging |
Het |
| Lrp2 |
G |
A |
2: 69,322,250 (GRCm39) |
T1893M |
probably damaging |
Het |
| Lyg1 |
A |
T |
1: 37,988,922 (GRCm39) |
Y99* |
probably null |
Het |
| Mdga1 |
T |
C |
17: 30,068,703 (GRCm39) |
D208G |
probably damaging |
Het |
| Mgarp |
T |
C |
3: 51,296,348 (GRCm39) |
E218G |
probably damaging |
Het |
| Mif4gd |
T |
A |
11: 115,499,324 (GRCm39) |
D186V |
probably benign |
Het |
| Mlec |
T |
C |
5: 115,288,283 (GRCm39) |
Y191C |
probably damaging |
Het |
| Muc16 |
T |
A |
9: 18,570,435 (GRCm39) |
T695S |
unknown |
Het |
| Muc4 |
A |
T |
16: 32,574,201 (GRCm39) |
M760L |
probably benign |
Het |
| Mybl2 |
A |
T |
2: 162,916,638 (GRCm39) |
S430C |
probably damaging |
Het |
| Nepn |
A |
G |
10: 52,276,896 (GRCm39) |
N211D |
probably benign |
Het |
| Nuggc |
A |
G |
14: 65,851,011 (GRCm39) |
T294A |
probably damaging |
Het |
| Or51k2 |
G |
A |
7: 103,595,834 (GRCm39) |
|
probably null |
Het |
| Or5w16 |
A |
T |
2: 87,577,437 (GRCm39) |
E299V |
probably benign |
Het |
| Pcca |
A |
G |
14: 122,922,526 (GRCm39) |
|
probably null |
Het |
| Pcdhb13 |
T |
G |
18: 37,576,287 (GRCm39) |
S222A |
possibly damaging |
Het |
| Peg10 |
C |
CTCA |
6: 4,756,453 (GRCm39) |
|
probably benign |
Het |
| Plppr3 |
A |
T |
10: 79,703,397 (GRCm39) |
V29E |
probably damaging |
Het |
| Plxna2 |
C |
T |
1: 194,326,354 (GRCm39) |
P96L |
probably damaging |
Het |
| Pop4 |
A |
T |
7: 37,962,599 (GRCm39) |
*222R |
probably null |
Het |
| Prss2 |
T |
A |
6: 41,498,739 (GRCm39) |
M1K |
probably null |
Het |
| Prss3 |
C |
A |
6: 41,352,059 (GRCm39) |
R68L |
probably benign |
Het |
| Recql5 |
G |
A |
11: 115,787,619 (GRCm39) |
Q512* |
probably null |
Het |
| Rnf148 |
A |
G |
6: 23,654,801 (GRCm39) |
I65T |
probably benign |
Het |
| Scgb1b19 |
G |
A |
7: 32,987,082 (GRCm39) |
A78T |
probably benign |
Het |
| Sftpd |
A |
G |
14: 40,897,583 (GRCm39) |
|
probably null |
Het |
| Shank1 |
A |
G |
7: 44,003,605 (GRCm39) |
R1766G |
possibly damaging |
Het |
| Slc35e2 |
T |
C |
4: 155,694,615 (GRCm39) |
L54P |
probably damaging |
Het |
| Smg6 |
A |
G |
11: 74,820,886 (GRCm39) |
K386E |
probably benign |
Het |
| Sorcs1 |
A |
G |
19: 50,248,248 (GRCm39) |
S393P |
probably damaging |
Het |
| Spen |
A |
G |
4: 141,249,590 (GRCm39) |
V66A |
unknown |
Het |
| Tpm1 |
G |
T |
9: 66,955,512 (GRCm39) |
A45E |
probably benign |
Het |
| Trmt2a |
T |
C |
16: 18,069,039 (GRCm39) |
Y294H |
probably damaging |
Het |
| Txnl4b |
T |
C |
8: 110,299,430 (GRCm39) |
V130A |
possibly damaging |
Het |
| Vmn2r14 |
C |
A |
5: 109,369,340 (GRCm39) |
V78L |
probably benign |
Het |
| Vmn2r27 |
A |
G |
6: 124,169,168 (GRCm39) |
V654A |
probably damaging |
Het |
| Wee2 |
G |
T |
6: 40,420,914 (GRCm39) |
M1I |
probably null |
Het |
| Xpnpep3 |
A |
G |
15: 81,332,672 (GRCm39) |
K403R |
probably benign |
Het |
| Zranb1 |
A |
G |
7: 132,551,810 (GRCm39) |
T154A |
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 |
|
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 |
|
|
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'- TGTCAAGTGTTTAGAAGGCCC -3'
(R):5'- CGGAGCCATTTGCACAGATAAAG -3'
Sequencing Primer
(F):5'- CTGGTGATGGTGAAGAGCCC -3'
(R):5'- CCATTTGCACAGATAAAGCAGGTTG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation