Incidental Mutation 'R4850:Mtus1'
ID |
373470 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mtus1
|
Ensembl Gene |
ENSMUSG00000045636 |
Gene Name |
mitochondrial tumor suppressor 1 |
Synonyms |
MTSG1, B430305I03Rik, MD44, Atip1 |
MMRRC Submission |
042462-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.232)
|
Stock # |
R4850 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
41443951-41586763 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 41537507 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Alanine
at position 70
(S70A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000119440
(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: S70A
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000059503 Gene: ENSMUSG00000045636 AA Change: S70A
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: S70A
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000112626 Gene: ENSMUSG00000045636 AA Change: S70A
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: S70A
PolyPhen 2
Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000119440 Gene: ENSMUSG00000045636 AA Change: S70A
Domain | Start | End | E-Value | Type |
low complexity region
|
524 |
539 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000155055
|
Meta Mutation Damage Score |
0.1014 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.8%
|
Validation Efficiency |
99% (79/80) |
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: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb10 |
C |
T |
8: 124,709,429 (GRCm39) |
A42T |
probably benign |
Het |
Acsf3 |
T |
C |
8: 123,544,175 (GRCm39) |
V551A |
probably damaging |
Het |
Adgrl2 |
G |
A |
3: 148,564,656 (GRCm39) |
T304I |
probably damaging |
Het |
Akr1d1 |
A |
G |
6: 37,531,522 (GRCm39) |
|
probably null |
Het |
Ankrd17 |
A |
T |
5: 90,412,645 (GRCm39) |
H1226Q |
probably damaging |
Het |
Arap1 |
T |
C |
7: 101,047,998 (GRCm39) |
I847T |
probably damaging |
Het |
Atad2b |
G |
A |
12: 4,993,251 (GRCm39) |
G257S |
probably benign |
Het |
Cand2 |
A |
T |
6: 115,778,909 (GRCm39) |
T1158S |
probably benign |
Het |
Cic |
G |
A |
7: 24,972,327 (GRCm39) |
R686H |
probably damaging |
Het |
Cldn1 |
T |
A |
16: 26,181,913 (GRCm39) |
T99S |
probably benign |
Het |
Cnga3 |
G |
T |
1: 37,297,087 (GRCm39) |
E173* |
probably null |
Het |
Cplane1 |
T |
C |
15: 8,292,422 (GRCm39) |
S3012P |
unknown |
Het |
Cryge |
G |
T |
1: 65,090,211 (GRCm39) |
|
probably benign |
Het |
Dsp |
T |
A |
13: 38,376,445 (GRCm39) |
L1410H |
probably damaging |
Het |
Dync2h1 |
T |
C |
9: 7,134,364 (GRCm39) |
T1548A |
probably benign |
Het |
Dysf |
C |
A |
6: 84,074,697 (GRCm39) |
D499E |
probably damaging |
Het |
Eml5 |
T |
C |
12: 98,756,878 (GRCm39) |
D1917G |
probably damaging |
Het |
Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
Fn3krp |
A |
T |
11: 121,315,879 (GRCm39) |
H90L |
possibly damaging |
Het |
Garin2 |
A |
G |
12: 78,761,927 (GRCm39) |
D197G |
probably damaging |
Het |
Gm10718 |
A |
T |
9: 3,023,716 (GRCm39) |
T56S |
probably benign |
Het |
Gm4847 |
A |
T |
1: 166,469,908 (GRCm39) |
I55K |
probably damaging |
Het |
Gsn |
T |
A |
2: 35,173,912 (GRCm39) |
|
probably null |
Het |
H2bc11 |
G |
T |
13: 22,227,421 (GRCm39) |
|
probably benign |
Het |
Haghl |
T |
C |
17: 26,001,980 (GRCm39) |
|
probably benign |
Het |
Hmg20b |
T |
A |
10: 81,182,761 (GRCm39) |
E139V |
probably damaging |
Het |
Hsd3b6 |
G |
A |
3: 98,715,221 (GRCm39) |
T57I |
probably benign |
Het |
Igkv5-48 |
A |
G |
6: 69,703,780 (GRCm39) |
S42P |
probably damaging |
Het |
Igsf23 |
T |
C |
7: 19,687,859 (GRCm39) |
|
probably benign |
Het |
Kcnt1 |
T |
C |
2: 25,798,112 (GRCm39) |
F874L |
probably damaging |
Het |
Maf1 |
T |
C |
15: 76,237,162 (GRCm39) |
F110L |
possibly damaging |
Het |
Mtpap |
C |
T |
18: 4,387,044 (GRCm39) |
R365W |
probably damaging |
Het |
Nfatc1 |
T |
A |
18: 80,741,080 (GRCm39) |
T307S |
probably benign |
Het |
Nphs1 |
T |
G |
7: 30,162,657 (GRCm39) |
S379A |
possibly damaging |
Het |
Nup205 |
A |
G |
6: 35,207,465 (GRCm39) |
T1506A |
probably benign |
Het |
Or13f5 |
T |
C |
4: 52,825,450 (GRCm39) |
S18P |
possibly damaging |
Het |
Or8u9 |
T |
A |
2: 86,002,015 (GRCm39) |
I49F |
probably damaging |
Het |
Pcdhga8 |
A |
T |
18: 37,860,762 (GRCm39) |
Y606F |
probably damaging |
Het |
Pde7a |
A |
G |
3: 19,297,281 (GRCm39) |
V123A |
probably benign |
Het |
Pex1 |
C |
T |
5: 3,674,426 (GRCm39) |
T809I |
probably benign |
Het |
Prdm13 |
C |
A |
4: 21,678,243 (GRCm39) |
R749L |
possibly damaging |
Het |
Prkcd |
A |
G |
14: 30,321,700 (GRCm39) |
L498P |
probably damaging |
Het |
Pros1 |
A |
T |
16: 62,705,887 (GRCm39) |
E67V |
probably damaging |
Het |
Rab44 |
A |
G |
17: 29,359,063 (GRCm39) |
E417G |
possibly damaging |
Het |
Rangrf |
A |
G |
11: 68,864,466 (GRCm39) |
|
probably null |
Het |
Rp1 |
T |
A |
1: 4,418,898 (GRCm39) |
K738M |
probably damaging |
Het |
Ryr2 |
A |
T |
13: 11,683,706 (GRCm39) |
D3119E |
probably damaging |
Het |
Ryr2 |
G |
A |
13: 11,760,638 (GRCm39) |
R1482C |
probably damaging |
Het |
Sbspon |
T |
A |
1: 15,929,192 (GRCm39) |
T200S |
probably damaging |
Het |
Sfxn5 |
T |
C |
6: 85,309,358 (GRCm39) |
|
probably benign |
Het |
Slc26a8 |
T |
A |
17: 28,873,857 (GRCm39) |
I377F |
probably benign |
Het |
Slc30a7 |
A |
G |
3: 115,786,657 (GRCm39) |
F72L |
probably damaging |
Het |
Slc32a1 |
T |
C |
2: 158,456,112 (GRCm39) |
F256L |
possibly damaging |
Het |
Slco6b1 |
T |
C |
1: 96,839,558 (GRCm39) |
|
noncoding transcript |
Het |
Smpd1 |
A |
G |
7: 105,205,192 (GRCm39) |
H357R |
probably benign |
Het |
Sncaip |
A |
T |
18: 53,004,456 (GRCm39) |
H361L |
probably damaging |
Het |
Tenm2 |
A |
C |
11: 35,914,315 (GRCm39) |
Y2406* |
probably null |
Het |
Terb1 |
T |
A |
8: 105,212,057 (GRCm39) |
H308L |
probably benign |
Het |
Trim61 |
A |
T |
8: 65,466,070 (GRCm39) |
L397H |
probably damaging |
Het |
Trp53bp1 |
T |
A |
2: 121,035,594 (GRCm39) |
|
probably null |
Het |
Ttn |
T |
G |
2: 76,611,899 (GRCm39) |
E9007D |
possibly damaging |
Het |
Urb1 |
A |
T |
16: 90,592,302 (GRCm39) |
C319* |
probably null |
Het |
Vmn2r95 |
T |
C |
17: 18,671,915 (GRCm39) |
Y551H |
probably damaging |
Het |
Vwde |
A |
T |
6: 13,196,047 (GRCm39) |
V326D |
possibly damaging |
Het |
Xdh |
A |
G |
17: 74,205,330 (GRCm39) |
L1045P |
probably damaging |
Het |
Zfp638 |
T |
C |
6: 83,956,457 (GRCm39) |
I1688T |
possibly damaging |
Het |
Zwint |
T |
A |
10: 72,491,788 (GRCm39) |
|
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 |
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 |
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'- TCGTCATCAGACCTGCACTC -3'
(R):5'- ATGGATCGCGTTATGTATTTATCCG -3'
Sequencing Primer
(F):5'- AGGGGATCAAACTTCTCATCCTGG -3'
(R):5'- TGGAACTCTGACAACCCA -3'
|
Posted On |
2016-03-01 |