Incidental Mutation 'R7700:Mtus1'
ID |
593946 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mtus1
|
Ensembl Gene |
ENSMUSG00000045636 |
Gene Name |
mitochondrial tumor suppressor 1 |
Synonyms |
MTSG1, B430305I03Rik, MD44, Atip1 |
MMRRC Submission |
045761-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.241)
|
Stock # |
R7700 (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 A
at 41537006 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 237
(T237S)
|
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: T237S
PolyPhen 2
Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000059503 Gene: ENSMUSG00000045636 AA Change: T237S
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: T237S
PolyPhen 2
Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000112626 Gene: ENSMUSG00000045636 AA Change: T237S
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 |
possibly damaging
Transcript: ENSMUST00000145860
AA Change: T237S
PolyPhen 2
Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000119440 Gene: ENSMUSG00000045636 AA Change: T237S
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: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
100% (85/85) |
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: 85 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1810009A15Rik |
T |
C |
19: 8,867,417 (GRCm39) |
L72P |
probably benign |
Het |
4930407I10Rik |
C |
A |
15: 81,948,306 (GRCm39) |
H734Q |
probably benign |
Het |
Acadl |
A |
G |
1: 66,877,522 (GRCm39) |
V343A |
possibly damaging |
Het |
Acot4 |
A |
T |
12: 84,090,011 (GRCm39) |
D236V |
probably damaging |
Het |
App |
T |
A |
16: 84,837,197 (GRCm39) |
|
probably null |
Het |
Arfgef1 |
G |
A |
1: 10,264,636 (GRCm39) |
T470I |
possibly damaging |
Het |
Arhgef5 |
T |
C |
6: 43,251,691 (GRCm39) |
I814T |
probably benign |
Het |
Atr |
A |
T |
9: 95,757,743 (GRCm39) |
R968* |
probably null |
Het |
Bltp1 |
T |
A |
3: 37,028,321 (GRCm39) |
N2329K |
possibly damaging |
Het |
Bltp1 |
C |
T |
3: 37,080,303 (GRCm39) |
S267L |
probably benign |
Het |
Capn7 |
C |
T |
14: 31,074,401 (GRCm39) |
T268I |
probably benign |
Het |
Ccdc192 |
A |
G |
18: 57,696,388 (GRCm39) |
|
probably null |
Het |
Ccn1 |
C |
T |
3: 145,354,447 (GRCm39) |
G155R |
probably damaging |
Het |
Csmd2 |
G |
T |
4: 128,439,549 (GRCm39) |
|
probably null |
Het |
Cubn |
A |
T |
2: 13,352,989 (GRCm39) |
F1916L |
probably benign |
Het |
Cubn |
A |
G |
2: 13,494,728 (GRCm39) |
V107A |
possibly damaging |
Het |
Cyp11b1 |
T |
A |
15: 74,707,691 (GRCm39) |
T473S |
probably damaging |
Het |
Dip2c |
T |
G |
13: 9,709,347 (GRCm39) |
S1396A |
probably benign |
Het |
Dop1b |
T |
G |
16: 93,595,649 (GRCm39) |
|
probably null |
Het |
Dyrk1b |
T |
C |
7: 27,883,737 (GRCm39) |
Y198H |
probably damaging |
Het |
Echdc2 |
G |
T |
4: 108,031,274 (GRCm39) |
R206L |
probably benign |
Het |
Ep400 |
C |
T |
5: 110,843,898 (GRCm39) |
R1594Q |
unknown |
Het |
Esyt1 |
T |
A |
10: 128,351,723 (GRCm39) |
|
probably benign |
Het |
Fmnl2 |
G |
A |
2: 52,926,520 (GRCm39) |
R69Q |
|
Het |
Fry |
T |
A |
5: 150,328,792 (GRCm39) |
H1308Q |
probably damaging |
Het |
Fyb2 |
T |
A |
4: 104,867,651 (GRCm39) |
D667E |
probably benign |
Het |
Gimap7 |
T |
A |
6: 48,700,791 (GRCm39) |
Y126N |
possibly damaging |
Het |
Gm1979 |
A |
T |
5: 26,205,178 (GRCm39) |
W266R |
probably damaging |
Het |
Gm28042 |
T |
A |
2: 119,870,197 (GRCm39) |
M712K |
possibly damaging |
Het |
Gm3238 |
A |
G |
10: 77,606,469 (GRCm39) |
*231R |
probably null |
Het |
Gm5592 |
C |
A |
7: 40,935,831 (GRCm39) |
A111E |
probably damaging |
Het |
Gm7694 |
A |
G |
1: 170,128,717 (GRCm39) |
*271Q |
probably null |
Het |
Gm9195 |
A |
C |
14: 72,693,342 (GRCm39) |
|
probably null |
Het |
Ift81 |
T |
C |
5: 122,732,623 (GRCm39) |
M304V |
possibly damaging |
Het |
Igfals |
T |
C |
17: 25,099,548 (GRCm39) |
L213P |
probably damaging |
Het |
Ints3 |
G |
A |
3: 90,329,111 (GRCm39) |
P83S |
probably benign |
Het |
Kcna10 |
T |
G |
3: 107,102,856 (GRCm39) |
S496A |
probably damaging |
Het |
Kmt2d |
G |
A |
15: 98,741,600 (GRCm39) |
A4520V |
unknown |
Het |
Lemd3 |
A |
T |
10: 120,813,995 (GRCm39) |
Y413N |
probably damaging |
Het |
Lgr6 |
T |
C |
1: 134,923,770 (GRCm39) |
N453S |
probably damaging |
Het |
Lmtk3 |
A |
C |
7: 45,441,998 (GRCm39) |
D352A |
probably damaging |
Het |
Lrrc4c |
T |
C |
2: 97,461,024 (GRCm39) |
M550T |
possibly damaging |
Het |
Maml2 |
A |
T |
9: 13,532,385 (GRCm39) |
Q533L |
|
Het |
Mdn1 |
T |
A |
4: 32,741,344 (GRCm39) |
D3815E |
probably damaging |
Het |
Megf8 |
C |
T |
7: 25,029,353 (GRCm39) |
A299V |
possibly damaging |
Het |
Meis3 |
G |
T |
7: 15,911,481 (GRCm39) |
E59D |
probably benign |
Het |
Mppe1 |
A |
G |
18: 67,358,775 (GRCm39) |
*398R |
probably null |
Het |
Mtmr7 |
G |
A |
8: 41,059,927 (GRCm39) |
A62V |
possibly damaging |
Het |
Ndfip2 |
T |
A |
14: 105,525,193 (GRCm39) |
V158E |
possibly damaging |
Het |
Nrbp2 |
T |
G |
15: 75,962,746 (GRCm39) |
T53P |
probably damaging |
Het |
Nrde2 |
G |
A |
12: 100,097,094 (GRCm39) |
P902L |
probably benign |
Het |
Or10ab5 |
T |
A |
7: 108,244,879 (GRCm39) |
K301N |
probably damaging |
Het |
Or11g24 |
T |
A |
14: 50,662,792 (GRCm39) |
M272K |
probably benign |
Het |
Or2y13 |
A |
G |
11: 49,415,381 (GRCm39) |
Y277C |
probably damaging |
Het |
Or6c202 |
T |
C |
10: 128,995,924 (GRCm39) |
M310V |
probably benign |
Het |
Pcdha1 |
A |
G |
18: 37,064,115 (GRCm39) |
T260A |
probably damaging |
Het |
Pdlim1 |
T |
G |
19: 40,238,102 (GRCm39) |
K98N |
probably damaging |
Het |
Pdxk |
A |
T |
10: 78,279,764 (GRCm39) |
|
probably null |
Het |
Phrf1 |
G |
A |
7: 140,834,842 (GRCm39) |
G207R |
unknown |
Het |
Pik3r6 |
A |
G |
11: 68,419,389 (GRCm39) |
K124R |
probably damaging |
Het |
Polr2b |
T |
A |
5: 77,488,268 (GRCm39) |
F823I |
probably benign |
Het |
Prss58 |
T |
C |
6: 40,872,322 (GRCm39) |
I234V |
probably damaging |
Het |
Ptpn14 |
A |
T |
1: 189,597,608 (GRCm39) |
N766I |
probably benign |
Het |
Qrfprl |
T |
A |
6: 65,429,940 (GRCm39) |
I212N |
probably benign |
Het |
Repin1 |
T |
A |
6: 48,574,756 (GRCm39) |
S562T |
probably damaging |
Het |
Rgr |
C |
T |
14: 36,766,552 (GRCm39) |
D165N |
probably damaging |
Het |
Rho |
T |
C |
6: 115,912,200 (GRCm39) |
F221L |
probably damaging |
Het |
Rictor |
C |
T |
15: 6,801,635 (GRCm39) |
S441L |
probably benign |
Het |
Rnase2a |
A |
G |
14: 51,493,248 (GRCm39) |
I39T |
probably damaging |
Het |
Rpl13a |
T |
G |
7: 44,776,660 (GRCm39) |
I43L |
probably benign |
Het |
Rpp30 |
T |
C |
19: 36,066,558 (GRCm39) |
V97A |
probably benign |
Het |
Scube3 |
T |
C |
17: 28,386,023 (GRCm39) |
Y755H |
probably damaging |
Het |
Sec24a |
A |
T |
11: 51,603,084 (GRCm39) |
V788E |
probably damaging |
Het |
Spns2 |
A |
T |
11: 72,380,443 (GRCm39) |
L60* |
probably null |
Het |
Strc |
T |
C |
2: 121,202,229 (GRCm39) |
N1213S |
possibly damaging |
Het |
Tec |
A |
T |
5: 72,943,367 (GRCm39) |
I116N |
possibly damaging |
Het |
Tll1 |
A |
T |
8: 64,546,988 (GRCm39) |
D319E |
probably benign |
Het |
Tmem121b |
T |
C |
6: 120,470,388 (GRCm39) |
T110A |
unknown |
Het |
Tmem232 |
T |
A |
17: 65,572,213 (GRCm39) |
I593F |
probably damaging |
Het |
Tpp2 |
A |
G |
1: 44,009,626 (GRCm39) |
I487V |
probably benign |
Het |
Ubr4 |
C |
A |
4: 139,136,178 (GRCm39) |
C934* |
probably null |
Het |
Vmn1r68 |
A |
G |
7: 10,261,559 (GRCm39) |
Y180H |
probably benign |
Het |
Vmn2r25 |
T |
C |
6: 123,816,882 (GRCm39) |
D233G |
possibly damaging |
Het |
Wdr6 |
A |
G |
9: 108,453,560 (GRCm39) |
W108R |
possibly damaging |
Het |
Zng1 |
A |
G |
19: 24,920,045 (GRCm39) |
|
probably null |
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 |
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'- CCGTGTGAATGTGTCTCACTG -3'
(R):5'- TGAACAGGGTCAGCCTTTGC -3'
Sequencing Primer
(F):5'- ACAATAGAACTCCTGTGATGCAG -3'
(R):5'- CCTTTGCATGCTCCTGGAGG -3'
|
Posted On |
2019-11-12 |