Incidental Mutation 'R7660:Mtus1'
ID |
591514 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mtus1
|
Ensembl Gene |
ENSMUSG00000045636 |
Gene Name |
mitochondrial tumor suppressor 1 |
Synonyms |
MTSG1, B430305I03Rik, MD44, Atip1 |
MMRRC Submission |
045735-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.241)
|
Stock # |
R7660 (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 T
at 41469248 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Lysine
at position 8
(T8K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000121605
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051379]
[ENSMUST00000059115]
[ENSMUST00000093534]
[ENSMUST00000117735]
[ENSMUST00000118835]
[ENSMUST00000131965]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000051379
|
SMART Domains |
Protein: ENSMUSP00000053554 Gene: ENSMUSG00000045636
Domain | Start | End | E-Value | Type |
coiled coil region
|
106 |
168 |
N/A |
INTRINSIC |
coiled coil region
|
193 |
375 |
N/A |
INTRINSIC |
low complexity region
|
425 |
439 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000059115
|
SMART Domains |
Protein: ENSMUSP00000059503 Gene: ENSMUSG00000045636
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: ENSMUST00000093534
|
SMART Domains |
Protein: ENSMUSP00000091252 Gene: ENSMUSG00000045636
Domain | Start | End | E-Value | Type |
coiled coil region
|
186 |
248 |
N/A |
INTRINSIC |
coiled coil region
|
273 |
455 |
N/A |
INTRINSIC |
low complexity region
|
505 |
519 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000117735
|
SMART Domains |
Protein: ENSMUSP00000113082 Gene: ENSMUSG00000045636
Domain | Start | End | E-Value | Type |
coiled coil region
|
16 |
74 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000118835
|
SMART Domains |
Protein: ENSMUSP00000112626 Gene: ENSMUSG00000045636
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: ENSMUST00000131965
AA Change: T8K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000121605 Gene: ENSMUSG00000045636 AA Change: T8K
Domain | Start | End | E-Value | Type |
coiled coil region
|
9 |
67 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.3%
|
Validation Efficiency |
100% (70/70) |
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: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933427I04Rik |
A |
T |
4: 123,754,512 (GRCm39) |
H142L |
possibly damaging |
Het |
Aadacl2fm3 |
A |
G |
3: 59,772,689 (GRCm39) |
I64M |
probably benign |
Het |
Abca13 |
A |
G |
11: 9,240,678 (GRCm39) |
E847G |
probably benign |
Het |
Abca9 |
T |
A |
11: 110,006,278 (GRCm39) |
T1276S |
probably benign |
Het |
Abcb11 |
C |
T |
2: 69,117,938 (GRCm39) |
|
probably null |
Het |
Alpk1 |
G |
C |
3: 127,474,616 (GRCm39) |
H462Q |
probably damaging |
Het |
Armh1 |
C |
A |
4: 117,070,938 (GRCm39) |
A396S |
probably benign |
Het |
Atm |
C |
T |
9: 53,356,807 (GRCm39) |
V2815M |
probably benign |
Het |
Braf |
T |
C |
6: 39,600,575 (GRCm39) |
I681V |
possibly damaging |
Het |
Casc3 |
C |
G |
11: 98,700,699 (GRCm39) |
R4G |
unknown |
Het |
Cilk1 |
G |
C |
9: 78,074,902 (GRCm39) |
V586L |
probably benign |
Het |
Crybg1 |
T |
C |
10: 43,874,831 (GRCm39) |
D759G |
probably damaging |
Het |
Csrp2 |
A |
G |
10: 110,773,624 (GRCm39) |
N103S |
probably benign |
Het |
Faf1 |
A |
T |
4: 109,719,034 (GRCm39) |
H380L |
probably damaging |
Het |
Farp1 |
G |
A |
14: 121,514,334 (GRCm39) |
A888T |
probably benign |
Het |
Fat4 |
A |
T |
3: 39,035,309 (GRCm39) |
Q2987L |
probably benign |
Het |
Fkbp15 |
T |
A |
4: 62,232,578 (GRCm39) |
T665S |
probably benign |
Het |
Gigyf1 |
T |
C |
5: 137,519,231 (GRCm39) |
S343P |
probably benign |
Het |
Glrx3 |
A |
G |
7: 137,060,954 (GRCm39) |
Y196C |
probably damaging |
Het |
Gm3278 |
T |
G |
14: 16,080,387 (GRCm39) |
L66R |
probably damaging |
Het |
Ifi205 |
A |
G |
1: 173,855,814 (GRCm39) |
V72A |
probably benign |
Het |
Ift140 |
T |
G |
17: 25,270,798 (GRCm39) |
L708R |
probably damaging |
Het |
Ints13 |
A |
T |
6: 146,458,836 (GRCm39) |
L328M |
probably benign |
Het |
Itfg2 |
A |
G |
6: 128,401,709 (GRCm39) |
I23T |
probably damaging |
Het |
Ldha |
C |
T |
7: 46,499,681 (GRCm39) |
P100S |
unknown |
Het |
Lmtk2 |
T |
A |
5: 144,085,158 (GRCm39) |
L210H |
probably damaging |
Het |
Lrrc4 |
T |
A |
6: 28,829,816 (GRCm39) |
I600L |
probably benign |
Het |
Map2 |
C |
A |
1: 66,453,536 (GRCm39) |
P809T |
probably damaging |
Het |
Matn2 |
T |
A |
15: 34,423,874 (GRCm39) |
C577* |
probably null |
Het |
Matn2 |
A |
G |
15: 34,403,092 (GRCm39) |
K439R |
probably benign |
Het |
Mep1a |
C |
T |
17: 43,789,868 (GRCm39) |
G494S |
probably benign |
Het |
Mtmr4 |
T |
C |
11: 87,495,406 (GRCm39) |
F488L |
probably damaging |
Het |
Mug1 |
C |
A |
6: 121,838,179 (GRCm39) |
H470N |
possibly damaging |
Het |
Mybpc1 |
T |
C |
10: 88,384,716 (GRCm39) |
T523A |
possibly damaging |
Het |
Ncoa3 |
C |
T |
2: 165,911,241 (GRCm39) |
P1334S |
probably benign |
Het |
Neb |
T |
G |
2: 52,139,451 (GRCm39) |
M119L |
|
Het |
Nox4 |
T |
C |
7: 87,019,230 (GRCm39) |
Y408H |
probably damaging |
Het |
Nxpe3 |
C |
T |
16: 55,664,690 (GRCm39) |
R510Q |
probably damaging |
Het |
Or4c58 |
T |
C |
2: 89,674,787 (GRCm39) |
T177A |
probably benign |
Het |
Or4f52 |
C |
T |
2: 111,061,960 (GRCm39) |
M59I |
probably damaging |
Het |
Or5p60 |
A |
G |
7: 107,724,041 (GRCm39) |
V143A |
probably benign |
Het |
Or6c214 |
C |
A |
10: 129,590,432 (GRCm39) |
E296* |
probably null |
Het |
Or7g23 |
T |
C |
9: 19,086,804 (GRCm39) |
H56R |
probably benign |
Het |
Or8k31-ps1 |
A |
T |
2: 86,356,174 (GRCm39) |
S116T |
possibly damaging |
Het |
Paip1 |
C |
T |
13: 119,587,306 (GRCm39) |
T390I |
possibly damaging |
Het |
Pax8 |
T |
C |
2: 24,326,573 (GRCm39) |
Y263C |
probably benign |
Het |
Pcdha11 |
T |
A |
18: 37,138,904 (GRCm39) |
Y178N |
probably benign |
Het |
Pcdhga11 |
C |
T |
18: 37,890,183 (GRCm39) |
T397M |
possibly damaging |
Het |
Pdlim5 |
G |
T |
3: 141,964,946 (GRCm39) |
H428N |
probably damaging |
Het |
Pigg |
G |
A |
5: 108,486,485 (GRCm39) |
V713I |
probably benign |
Het |
Rgs3 |
A |
G |
4: 62,619,349 (GRCm39) |
D478G |
possibly damaging |
Het |
Scgb2b11 |
C |
T |
7: 31,909,883 (GRCm39) |
E68K |
probably damaging |
Het |
Sema4b |
C |
A |
7: 79,869,995 (GRCm39) |
Q428K |
probably benign |
Het |
Semp2l2a |
A |
T |
8: 13,887,995 (GRCm39) |
I32K |
probably benign |
Het |
Serpine2 |
T |
C |
1: 79,780,622 (GRCm39) |
T276A |
probably benign |
Het |
Sgo2b |
G |
A |
8: 64,393,108 (GRCm39) |
H110Y |
probably benign |
Het |
Slc12a7 |
T |
C |
13: 73,954,208 (GRCm39) |
L833S |
probably benign |
Het |
Slc6a15 |
T |
A |
10: 103,229,241 (GRCm39) |
|
probably null |
Het |
Srfbp1 |
G |
A |
18: 52,608,671 (GRCm39) |
V24I |
probably damaging |
Het |
Stpg2 |
A |
T |
3: 139,407,458 (GRCm39) |
N537Y |
probably damaging |
Het |
Svep1 |
A |
T |
4: 58,087,782 (GRCm39) |
S1766T |
probably benign |
Het |
Tiam2 |
T |
A |
17: 3,532,880 (GRCm39) |
M1K |
probably null |
Het |
Tmem245 |
A |
T |
4: 56,899,170 (GRCm39) |
I661K |
possibly damaging |
Het |
Trim5 |
T |
C |
7: 103,928,569 (GRCm39) |
H124R |
probably damaging |
Het |
Trim67 |
T |
A |
8: 125,547,024 (GRCm39) |
L478Q |
probably damaging |
Het |
Triml2 |
A |
G |
8: 43,646,357 (GRCm39) |
D282G |
probably damaging |
Het |
Txndc11 |
T |
C |
16: 10,905,793 (GRCm39) |
Y579C |
probably damaging |
Het |
Ube3c |
T |
A |
5: 29,824,629 (GRCm39) |
D551E |
probably damaging |
Het |
Vmn1r194 |
T |
C |
13: 22,428,767 (GRCm39) |
V128A |
not run |
Het |
Vmn2r130 |
T |
A |
17: 23,296,006 (GRCm39) |
D725E |
probably damaging |
Het |
Vmn2r70 |
T |
G |
7: 85,218,130 (GRCm39) |
N56T |
probably damaging |
Het |
Wdr95 |
T |
C |
5: 149,517,945 (GRCm39) |
V501A |
possibly damaging |
Het |
Zc3h8 |
T |
C |
2: 128,772,742 (GRCm39) |
T249A |
probably damaging |
Het |
Zfp54 |
T |
C |
17: 21,654,501 (GRCm39) |
C332R |
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 |
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'- GTTGATTTCACCCAGCTACACAG -3'
(R):5'- GCAAGTCTAGACTGCAGAGAC -3'
Sequencing Primer
(F):5'- AGCAGTTTCCAAGGACTCTTAC -3'
(R):5'- GAGACCAGTCTCGTGCTCTCTG -3'
|
Posted On |
2019-11-12 |