Incidental Mutation 'R6869:Mtus1'
ID |
536087 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mtus1
|
Ensembl Gene |
ENSMUSG00000045636 |
Gene Name |
mitochondrial tumor suppressor 1 |
Synonyms |
MTSG1, B430305I03Rik, MD44, Atip1 |
MMRRC Submission |
044966-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.232)
|
Stock # |
R6869 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
41443951-41586763 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 41535691 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Arginine
at position 675
(Q675R)
|
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 |
possibly damaging
Transcript: ENSMUST00000059115
AA Change: Q675R
PolyPhen 2
Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000059503 Gene: ENSMUSG00000045636 AA Change: Q675R
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 |
possibly damaging
Transcript: ENSMUST00000118835
AA Change: Q675R
PolyPhen 2
Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000112626 Gene: ENSMUSG00000045636 AA Change: Q675R
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000145860
AA Change: Q675R
PolyPhen 2
Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000119440 Gene: ENSMUSG00000045636 AA Change: Q675R
Domain | Start | End | E-Value | Type |
low complexity region
|
524 |
539 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000155055
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.2%
|
Validation Efficiency |
97% (61/63) |
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl4fm5 |
A |
T |
4: 144,507,042 (GRCm39) |
|
probably null |
Het |
Ankdd1b |
A |
T |
13: 96,580,799 (GRCm39) |
N166K |
possibly damaging |
Het |
Arhgap30 |
G |
T |
1: 171,236,623 (GRCm39) |
R999L |
probably damaging |
Het |
Bnc2 |
T |
A |
4: 84,211,733 (GRCm39) |
D212V |
probably damaging |
Het |
Bpifb5 |
T |
C |
2: 154,075,143 (GRCm39) |
I357T |
probably benign |
Het |
Catsperb |
T |
C |
12: 101,446,996 (GRCm39) |
F208S |
probably benign |
Het |
Cc2d2b |
T |
A |
19: 40,797,898 (GRCm39) |
H1105Q |
probably benign |
Het |
Chchd6 |
T |
C |
6: 89,572,478 (GRCm39) |
D17G |
probably damaging |
Het |
Chd6 |
T |
C |
2: 160,807,650 (GRCm39) |
S1855G |
probably benign |
Het |
Cpe |
A |
G |
8: 65,072,461 (GRCm39) |
V143A |
probably benign |
Het |
Cyfip1 |
T |
A |
7: 55,557,113 (GRCm39) |
V770D |
possibly damaging |
Het |
Cyp1a1 |
A |
T |
9: 57,610,067 (GRCm39) |
M494L |
probably benign |
Het |
Dcstamp |
T |
C |
15: 39,617,854 (GRCm39) |
S88P |
probably damaging |
Het |
Dnah2 |
T |
A |
11: 69,320,297 (GRCm39) |
N3924I |
probably damaging |
Het |
F830045P16Rik |
T |
C |
2: 129,316,481 (GRCm39) |
E76G |
probably damaging |
Het |
Fam91a1 |
T |
A |
15: 58,303,117 (GRCm39) |
V342E |
probably benign |
Het |
Fastkd1 |
G |
A |
2: 69,533,104 (GRCm39) |
A421V |
probably benign |
Het |
Fgf20 |
T |
C |
8: 40,734,189 (GRCm39) |
Y64C |
probably damaging |
Het |
Gen1 |
A |
T |
12: 11,291,442 (GRCm39) |
N847K |
probably benign |
Het |
Gm4922 |
A |
T |
10: 18,660,263 (GRCm39) |
I153K |
probably damaging |
Het |
Gm6619 |
T |
C |
6: 131,463,401 (GRCm39) |
I6T |
unknown |
Het |
H2-Ab1 |
T |
C |
17: 34,486,537 (GRCm39) |
Y199H |
probably damaging |
Het |
Hdac7 |
C |
A |
15: 97,694,057 (GRCm39) |
L737F |
probably damaging |
Het |
Hells |
A |
G |
19: 38,929,079 (GRCm39) |
N121D |
probably benign |
Het |
Itga2 |
G |
A |
13: 115,012,073 (GRCm39) |
|
probably null |
Het |
Itgb1 |
A |
G |
8: 129,446,516 (GRCm39) |
D391G |
probably benign |
Het |
Lama5 |
G |
A |
2: 179,833,455 (GRCm39) |
P1519L |
probably damaging |
Het |
Lbx1 |
T |
A |
19: 45,223,390 (GRCm39) |
S93C |
probably damaging |
Het |
Lmod2 |
T |
C |
6: 24,604,126 (GRCm39) |
M367T |
probably benign |
Het |
Lrrc43 |
G |
A |
5: 123,642,339 (GRCm39) |
|
probably null |
Het |
Man2a2 |
C |
T |
7: 80,012,693 (GRCm39) |
G574D |
probably benign |
Het |
Mier2 |
T |
G |
10: 79,378,503 (GRCm39) |
K343T |
probably damaging |
Het |
Msh5 |
A |
T |
17: 35,260,810 (GRCm39) |
|
probably null |
Het |
Ncan |
A |
T |
8: 70,560,557 (GRCm39) |
H803Q |
probably benign |
Het |
Nckap5l |
A |
G |
15: 99,324,334 (GRCm39) |
V723A |
probably damaging |
Het |
Nectin3 |
G |
A |
16: 46,215,506 (GRCm39) |
R79C |
probably damaging |
Het |
Nlrc5 |
A |
G |
8: 95,248,583 (GRCm39) |
E1735G |
probably benign |
Het |
Nrros |
A |
G |
16: 31,963,249 (GRCm39) |
L220S |
probably damaging |
Het |
Or52r1c |
G |
A |
7: 102,735,075 (GRCm39) |
V112M |
possibly damaging |
Het |
Or5aq1b |
T |
A |
2: 86,902,017 (GRCm39) |
I154F |
probably benign |
Het |
Oxa1l |
C |
T |
14: 54,604,195 (GRCm39) |
P152S |
probably damaging |
Het |
Pdcd6ip |
A |
G |
9: 113,484,174 (GRCm39) |
Y818H |
unknown |
Het |
Pik3cb |
A |
T |
9: 98,942,312 (GRCm39) |
S682T |
probably benign |
Het |
Ppp1r3a |
A |
C |
6: 14,754,825 (GRCm39) |
S141A |
probably benign |
Het |
Prrc2c |
TTGCTGCTGCTGCTGCTGCTGCTGCTGC |
TTGCTGCTGCTGCTGCTGCTGCTGC |
1: 162,536,630 (GRCm39) |
|
probably benign |
Het |
Ptprk |
T |
C |
10: 28,349,055 (GRCm39) |
|
probably null |
Het |
Ranbp17 |
T |
C |
11: 33,463,074 (GRCm39) |
|
probably benign |
Het |
Rcbtb1 |
T |
C |
14: 59,455,051 (GRCm39) |
V95A |
probably benign |
Het |
Retreg3 |
G |
A |
11: 101,010,644 (GRCm39) |
|
probably benign |
Het |
Rhobtb1 |
T |
C |
10: 69,106,056 (GRCm39) |
L207P |
probably damaging |
Het |
Rsf1 |
GGCG |
GGCGACGGCTGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
Sh3bgr |
A |
G |
16: 96,007,860 (GRCm39) |
Y75C |
probably damaging |
Het |
Strip1 |
T |
C |
3: 107,520,761 (GRCm39) |
D763G |
probably damaging |
Het |
Stxbp5l |
A |
T |
16: 37,024,810 (GRCm39) |
V596E |
possibly damaging |
Het |
Tas2r138 |
A |
G |
6: 40,589,355 (GRCm39) |
I297T |
probably damaging |
Het |
Topors |
A |
C |
4: 40,261,201 (GRCm39) |
N694K |
unknown |
Het |
Tymp |
T |
C |
15: 89,260,894 (GRCm39) |
R20G |
probably benign |
Het |
Ubr4 |
A |
G |
4: 139,194,538 (GRCm39) |
T1144A |
possibly damaging |
Het |
Unc79 |
A |
T |
12: 103,079,331 (GRCm39) |
Q1636L |
probably benign |
Het |
Vmn1r78 |
A |
G |
7: 11,886,676 (GRCm39) |
M96V |
probably benign |
Het |
Wfdc8 |
C |
T |
2: 164,441,012 (GRCm39) |
D244N |
possibly damaging |
Het |
Zbtb49 |
G |
T |
5: 38,371,694 (GRCm39) |
N62K |
probably damaging |
Het |
Zfp579 |
G |
T |
7: 4,997,460 (GRCm39) |
D150E |
probably benign |
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 |
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'- TGCCTGGCAGAACAAAGAAC -3'
(R):5'- TGCCACGAAATCGAATCAGGAG -3'
Sequencing Primer
(F):5'- CCTGGCAGAACAAAGAACAGCTG -3'
(R):5'- GTTGACAAGACAGGTTCTCCTCATG -3'
|
Posted On |
2018-10-18 |