Incidental Mutation 'R4940:Mtus1'
| ID |
383009 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mtus1
|
| Ensembl Gene |
ENSMUSG00000045636 |
| Gene Name |
mitochondrial tumor suppressor 1 |
| Synonyms |
MTSG1, B430305I03Rik, MD44, Atip1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.241)
|
| Stock # |
R4940 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
41443951-41586763 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 41494515 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 39
(H39L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000053554
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051379]
[ENSMUST00000059115]
[ENSMUST00000093534]
[ENSMUST00000118835]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000051379
AA Change: H39L
PolyPhen 2
Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000053554
Gene: ENSMUSG00000045636
AA Change: H39L
| 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: 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 |
noncoding transcript
Transcript: ENSMUST00000142936
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148357
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155174
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.5%
- 20x: 93.3%
|
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931414P19Rik |
T |
C |
14: 54,828,782 (GRCm39) |
T240A |
probably benign |
Het |
| Abca15 |
T |
C |
7: 119,931,917 (GRCm39) |
Y57H |
probably benign |
Het |
| Adgrf4 |
A |
G |
17: 42,977,420 (GRCm39) |
I641T |
possibly damaging |
Het |
| Ankrd11 |
A |
G |
8: 123,616,560 (GRCm39) |
Y2410H |
probably damaging |
Het |
| Apbb2 |
C |
A |
5: 66,609,604 (GRCm39) |
L14F |
probably null |
Het |
| Arhgdia |
T |
C |
11: 120,470,061 (GRCm39) |
D204G |
probably damaging |
Het |
| Armh4 |
A |
T |
14: 50,010,939 (GRCm39) |
M256K |
probably benign |
Het |
| Catsperd |
A |
T |
17: 56,969,736 (GRCm39) |
Y610F |
possibly damaging |
Het |
| Cblb |
T |
A |
16: 51,853,466 (GRCm39) |
D27E |
probably damaging |
Het |
| Ccdc180 |
A |
T |
4: 45,917,453 (GRCm39) |
I893F |
probably damaging |
Het |
| Ccdc180 |
A |
G |
4: 45,917,508 (GRCm39) |
H911R |
probably damaging |
Het |
| Cdh23 |
T |
A |
10: 60,143,714 (GRCm39) |
I2966F |
probably damaging |
Het |
| Cfap299 |
A |
G |
5: 98,885,495 (GRCm39) |
H134R |
possibly damaging |
Het |
| Chat |
G |
A |
14: 32,141,062 (GRCm39) |
P445L |
probably damaging |
Het |
| Chdh |
G |
T |
14: 29,754,809 (GRCm39) |
R273L |
possibly damaging |
Het |
| Clic3 |
T |
C |
2: 25,347,929 (GRCm39) |
V72A |
probably benign |
Het |
| Cyp2d12 |
T |
A |
15: 82,442,251 (GRCm39) |
D244E |
probably benign |
Het |
| Ddr1 |
T |
A |
17: 36,001,022 (GRCm39) |
D241V |
probably damaging |
Het |
| Dock7 |
T |
A |
4: 98,908,314 (GRCm39) |
K605N |
probably damaging |
Het |
| Dsg2 |
T |
A |
18: 20,712,487 (GRCm39) |
F164I |
probably damaging |
Het |
| Dstyk |
T |
A |
1: 132,380,844 (GRCm39) |
N446K |
probably damaging |
Het |
| Epb42 |
A |
T |
2: 120,864,932 (GRCm39) |
L53Q |
probably damaging |
Het |
| Extl2 |
G |
C |
3: 115,820,841 (GRCm39) |
K229N |
probably benign |
Het |
| Frmd4b |
T |
A |
6: 97,275,051 (GRCm39) |
S617C |
probably damaging |
Het |
| Fscb |
C |
T |
12: 64,520,588 (GRCm39) |
V293I |
probably benign |
Het |
| Glp2r |
G |
T |
11: 67,648,419 (GRCm39) |
Y94* |
probably null |
Het |
| Gm4978 |
A |
C |
9: 69,358,154 (GRCm39) |
|
probably benign |
Het |
| Gm6729 |
A |
G |
10: 86,376,252 (GRCm39) |
|
noncoding transcript |
Het |
| Gnat2 |
A |
C |
3: 108,007,932 (GRCm39) |
N293T |
probably benign |
Het |
| Herpud1 |
T |
C |
8: 95,117,470 (GRCm39) |
I142T |
probably benign |
Het |
| Irak2 |
G |
A |
6: 113,670,691 (GRCm39) |
V536I |
probably benign |
Het |
| Kcnu1 |
A |
T |
8: 26,387,890 (GRCm39) |
|
probably null |
Het |
| Kdm4a |
A |
G |
4: 118,018,951 (GRCm39) |
S422P |
probably benign |
Het |
| Lair1 |
T |
A |
7: 4,031,948 (GRCm39) |
D53V |
probably benign |
Het |
| Lhx1 |
G |
T |
11: 84,410,735 (GRCm39) |
Y196* |
probably null |
Het |
| Lrrc37a |
G |
A |
11: 103,388,438 (GRCm39) |
T2329I |
unknown |
Het |
| Mag |
T |
C |
7: 30,608,625 (GRCm39) |
D163G |
probably damaging |
Het |
| Magi3 |
A |
G |
3: 103,958,708 (GRCm39) |
V459A |
probably damaging |
Het |
| Med13 |
A |
G |
11: 86,178,944 (GRCm39) |
Y1451H |
probably damaging |
Het |
| Megf8 |
T |
A |
7: 25,060,131 (GRCm39) |
C2341S |
probably damaging |
Het |
| Mppe1 |
A |
G |
18: 67,361,095 (GRCm39) |
C221R |
probably damaging |
Het |
| Nkpd1 |
C |
T |
7: 19,257,498 (GRCm39) |
Q276* |
probably null |
Het |
| Nkx3-1 |
G |
A |
14: 69,428,367 (GRCm39) |
G72S |
probably benign |
Het |
| Nutm2 |
T |
C |
13: 50,628,909 (GRCm39) |
C658R |
possibly damaging |
Het |
| Olfm1 |
T |
C |
2: 28,112,602 (GRCm39) |
V239A |
possibly damaging |
Het |
| Pcnx1 |
C |
T |
12: 81,964,567 (GRCm39) |
H245Y |
possibly damaging |
Het |
| Pgm3 |
A |
G |
9: 86,441,529 (GRCm39) |
L356S |
probably damaging |
Het |
| Pik3r4 |
C |
G |
9: 105,546,193 (GRCm39) |
H207D |
probably benign |
Het |
| Pkd1l1 |
T |
C |
11: 8,794,585 (GRCm39) |
T1859A |
probably benign |
Het |
| Pon3 |
A |
T |
6: 5,221,625 (GRCm39) |
V335E |
possibly damaging |
Het |
| Ppp4r3b |
A |
G |
11: 29,161,740 (GRCm39) |
T705A |
probably benign |
Het |
| Prmt7 |
T |
C |
8: 106,963,910 (GRCm39) |
V268A |
probably benign |
Het |
| Psd |
C |
T |
19: 46,310,856 (GRCm39) |
G398R |
probably damaging |
Het |
| Pygl |
A |
G |
12: 70,253,155 (GRCm39) |
V188A |
probably damaging |
Het |
| Rnf13 |
T |
A |
3: 57,703,627 (GRCm39) |
N110K |
probably damaging |
Het |
| Rnf170 |
C |
T |
8: 26,615,939 (GRCm39) |
Q77* |
probably null |
Het |
| Rrp8 |
A |
T |
7: 105,383,284 (GRCm39) |
Y327* |
probably null |
Het |
| Ruvbl2 |
T |
C |
7: 45,074,150 (GRCm39) |
D228G |
probably damaging |
Het |
| Scgn |
T |
A |
13: 24,173,807 (GRCm39) |
T35S |
probably benign |
Het |
| Scyl3 |
C |
T |
1: 163,762,316 (GRCm39) |
P74S |
probably damaging |
Het |
| Sec61b |
T |
G |
4: 47,483,074 (GRCm39) |
S123A |
probably benign |
Het |
| Sertad2 |
T |
C |
11: 20,597,899 (GRCm39) |
S32P |
possibly damaging |
Het |
| Slc23a3 |
T |
C |
1: 75,110,447 (GRCm39) |
|
probably null |
Het |
| Sult2a2 |
T |
G |
7: 13,472,223 (GRCm39) |
V140G |
probably benign |
Het |
| Tbc1d4 |
A |
T |
14: 101,744,667 (GRCm39) |
S320T |
probably benign |
Het |
| Trabd2b |
T |
C |
4: 114,266,141 (GRCm39) |
Y52H |
probably damaging |
Het |
| Traf2 |
T |
C |
2: 25,420,300 (GRCm39) |
E183G |
probably null |
Het |
| Trip10 |
G |
T |
17: 57,570,017 (GRCm39) |
V561F |
possibly damaging |
Het |
| Ttc7 |
G |
T |
17: 87,614,386 (GRCm39) |
V184F |
probably benign |
Het |
| Ubc |
A |
G |
5: 125,463,293 (GRCm39) |
V678A |
probably benign |
Het |
| Unk |
A |
G |
11: 115,944,491 (GRCm39) |
E414G |
possibly damaging |
Het |
| Usp42 |
T |
C |
5: 143,705,517 (GRCm39) |
N365D |
probably damaging |
Het |
| Zbtb26 |
A |
T |
2: 37,326,781 (GRCm39) |
I85K |
probably damaging |
Het |
| Zfhx2 |
A |
T |
14: 55,303,891 (GRCm39) |
H1364Q |
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 |
|
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 |
|
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'- TGCATCGGTAAACACAGACAAG -3'
(R):5'- TCCCTGGAAAAGCTGCTTCC -3'
Sequencing Primer
(F):5'- TACAGCTGCCGGCACAC -3'
(R):5'- GAAAAGCTGCTTCCCCTGC -3'
|
| Posted On |
2016-04-27 |
Incidental Mutation