Incidental Mutation 'R9283:Mtus1'
| ID |
703752 |
| 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: 0.241)
|
| Stock # |
R9283 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
41443951-41586763 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 41536519 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Valine
at position 399
(G399V)
|
| 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: G399V
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000059503
Gene: ENSMUSG00000045636
AA Change: G399V
| 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: G399V
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000112626
Gene: ENSMUSG00000045636
AA Change: G399V
| 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: G399V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000119440
Gene: ENSMUSG00000045636
AA Change: G399V
| 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: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| 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 |
|---|
| Aaas |
A |
G |
15: 102,258,499 (GRCm39) |
V47A |
probably benign |
Het |
| Aamdc |
A |
G |
7: 97,199,842 (GRCm39) |
V140A |
probably benign |
Het |
| Acsm3 |
T |
A |
7: 119,373,115 (GRCm39) |
M206K |
possibly damaging |
Het |
| Adprhl1 |
T |
C |
8: 13,273,540 (GRCm39) |
T1073A |
probably benign |
Het |
| Aoc1 |
A |
G |
6: 48,882,261 (GRCm39) |
I46V |
probably benign |
Het |
| Ap4b1 |
A |
G |
3: 103,722,259 (GRCm39) |
S246G |
probably damaging |
Het |
| Bach1 |
A |
G |
16: 87,516,211 (GRCm39) |
T251A |
probably benign |
Het |
| Cry2 |
A |
G |
2: 92,244,249 (GRCm39) |
L308P |
probably damaging |
Het |
| Daam1 |
G |
T |
12: 72,035,696 (GRCm39) |
G964C |
probably damaging |
Het |
| Ddx10 |
T |
G |
9: 53,146,656 (GRCm39) |
N189H |
probably benign |
Het |
| Dlg4 |
T |
A |
11: 69,922,617 (GRCm39) |
C241* |
probably null |
Het |
| Dpy19l1 |
G |
T |
9: 24,332,412 (GRCm39) |
Y489* |
probably null |
Het |
| E2f4 |
C |
A |
8: 106,024,395 (GRCm39) |
A8E |
probably benign |
Het |
| Gm3486 |
T |
C |
14: 41,210,268 (GRCm39) |
N71S |
possibly damaging |
Het |
| Ighv1-23 |
A |
G |
12: 114,728,225 (GRCm39) |
W66R |
probably damaging |
Het |
| Kcnh5 |
A |
G |
12: 75,023,307 (GRCm39) |
L587P |
probably damaging |
Het |
| Kctd16 |
T |
C |
18: 40,392,233 (GRCm39) |
Y274H |
possibly damaging |
Het |
| Kif16b |
T |
A |
2: 142,554,900 (GRCm39) |
M633L |
probably benign |
Het |
| Kif23 |
T |
C |
9: 61,852,651 (GRCm39) |
N21S |
probably benign |
Het |
| Lamtor3 |
C |
T |
3: 137,633,123 (GRCm39) |
R85C |
probably benign |
Het |
| Lin9 |
A |
T |
1: 180,493,493 (GRCm39) |
T240S |
probably damaging |
Het |
| Mup8 |
C |
T |
4: 60,221,903 (GRCm39) |
V77I |
probably benign |
Het |
| Myo5b |
C |
T |
18: 74,777,149 (GRCm39) |
A403V |
probably benign |
Het |
| Naf1 |
C |
A |
8: 67,313,503 (GRCm39) |
A162E |
unknown |
Het |
| Nat10 |
G |
A |
2: 103,556,092 (GRCm39) |
Q910* |
probably null |
Het |
| Nos1 |
G |
C |
5: 118,017,402 (GRCm39) |
R255P |
probably benign |
Het |
| Npas2 |
A |
G |
1: 39,326,689 (GRCm39) |
K58R |
probably damaging |
Het |
| Nsd2 |
A |
T |
5: 34,001,058 (GRCm39) |
I192F |
probably benign |
Het |
| Nup98 |
C |
A |
7: 101,788,037 (GRCm39) |
R1011L |
probably benign |
Het |
| Ophn1 |
G |
A |
X: 97,622,145 (GRCm39) |
T668M |
probably benign |
Het |
| Or10a3 |
C |
T |
7: 108,480,289 (GRCm39) |
A175T |
probably benign |
Het |
| Or2d4 |
G |
A |
7: 106,543,806 (GRCm39) |
T134I |
probably benign |
Het |
| Or5b105 |
C |
A |
19: 13,079,821 (GRCm39) |
M282I |
probably damaging |
Het |
| Or5b12b |
T |
A |
19: 12,861,961 (GRCm39) |
C239S |
probably damaging |
Het |
| Or7e177 |
A |
G |
9: 20,212,419 (GRCm39) |
K309E |
possibly damaging |
Het |
| Pcdh17 |
C |
T |
14: 84,685,593 (GRCm39) |
P687S |
possibly damaging |
Het |
| Pdpr |
C |
T |
8: 111,856,268 (GRCm39) |
R664W |
possibly damaging |
Het |
| Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
| Pfas |
A |
T |
11: 68,884,708 (GRCm39) |
V498E |
probably damaging |
Het |
| Pfpl |
A |
T |
19: 12,406,220 (GRCm39) |
Y157F |
probably damaging |
Het |
| Piezo2 |
A |
T |
18: 63,157,637 (GRCm39) |
F2358I |
probably damaging |
Het |
| Pip5k1b |
T |
C |
19: 24,337,376 (GRCm39) |
Y304C |
probably damaging |
Het |
| Pls1 |
G |
A |
9: 95,655,642 (GRCm39) |
A370V |
probably benign |
Het |
| Polm |
A |
T |
11: 5,779,050 (GRCm39) |
L490H |
probably damaging |
Het |
| Prdm5 |
T |
C |
6: 65,858,060 (GRCm39) |
C375R |
probably damaging |
Het |
| Scmh1 |
A |
T |
4: 120,319,337 (GRCm39) |
M21L |
probably benign |
Het |
| Sec16a |
C |
A |
2: 26,313,904 (GRCm39) |
R449S |
|
Het |
| Sin3a |
C |
T |
9: 57,002,717 (GRCm39) |
T203I |
probably damaging |
Het |
| Six5 |
A |
G |
7: 18,829,148 (GRCm39) |
E196G |
probably damaging |
Het |
| Skint8 |
T |
C |
4: 111,785,644 (GRCm39) |
V30A |
probably damaging |
Het |
| Slc2a12 |
G |
A |
10: 22,540,511 (GRCm39) |
G122E |
probably damaging |
Het |
| Smim14 |
A |
G |
5: 65,625,780 (GRCm39) |
C11R |
probably damaging |
Het |
| Sorbs2 |
T |
G |
8: 46,248,774 (GRCm39) |
V675G |
probably benign |
Het |
| Tanc1 |
T |
C |
2: 59,630,174 (GRCm39) |
I718T |
probably damaging |
Het |
| Tead4 |
A |
G |
6: 128,205,592 (GRCm39) |
L370P |
probably damaging |
Het |
| Tnrc6c |
A |
G |
11: 117,591,630 (GRCm39) |
K15E |
unknown |
Het |
| Trim55 |
T |
G |
3: 19,699,612 (GRCm39) |
|
probably null |
Het |
| Trpm1 |
A |
T |
7: 63,873,623 (GRCm39) |
N510I |
probably benign |
Het |
| Trps1 |
A |
G |
15: 50,694,447 (GRCm39) |
V616A |
probably damaging |
Het |
| Usp42 |
A |
T |
5: 143,705,264 (GRCm39) |
V405E |
probably damaging |
Het |
| Zfp11 |
A |
T |
5: 129,734,748 (GRCm39) |
S238T |
probably damaging |
Het |
| Zfp608 |
T |
C |
18: 55,030,913 (GRCm39) |
H1009R |
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 |
|
|
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 |
|
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'- CCTTTCAAGTTTGGTGCACG -3'
(R):5'- GCCAAAATTTAAGAGGAACACTGC -3'
Sequencing Primer
(F):5'- CAAGTTTGGTGCACGTTTAGCATC -3'
(R):5'- CCCAACTGTCATGTCGATGGTG -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation