Incidental Mutation 'R5468:Mtus1'
ID |
433346 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mtus1
|
Ensembl Gene |
ENSMUSG00000045636 |
Gene Name |
mitochondrial tumor suppressor 1 |
Synonyms |
MTSG1, B430305I03Rik, MD44, Atip1 |
MMRRC Submission |
043029-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.241)
|
Stock # |
R5468 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
41443951-41586763 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 41537615 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 34
(S34P)
|
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: S34P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000059503 Gene: ENSMUSG00000045636 AA Change: S34P
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: S34P
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000112626 Gene: ENSMUSG00000045636 AA Change: S34P
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 |
probably benign
Transcript: ENSMUST00000145860
AA Change: S34P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000119440 Gene: ENSMUSG00000045636 AA Change: S34P
Domain | Start | End | E-Value | Type |
low complexity region
|
524 |
539 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000155055
AA Change: S34P
|
Coding Region Coverage |
- 1x: 98.2%
- 3x: 97.3%
- 10x: 95.2%
- 20x: 91.0%
|
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: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700008O03Rik |
C |
T |
7: 44,009,659 (GRCm39) |
R181Q |
probably damaging |
Het |
Abca13 |
T |
A |
11: 9,244,062 (GRCm39) |
L1975Q |
probably damaging |
Het |
Acp2 |
T |
A |
2: 91,036,443 (GRCm39) |
I180N |
probably benign |
Het |
Adam12 |
T |
C |
7: 133,577,202 (GRCm39) |
D221G |
probably damaging |
Het |
Adamts4 |
A |
G |
1: 171,080,178 (GRCm39) |
T244A |
probably benign |
Het |
Adrb2 |
A |
T |
18: 62,312,696 (GRCm39) |
I43N |
probably damaging |
Het |
Anxa1 |
A |
T |
19: 20,355,847 (GRCm39) |
Y207N |
probably damaging |
Het |
Apba2 |
T |
C |
7: 64,395,510 (GRCm39) |
L662P |
probably damaging |
Het |
Arhgap18 |
T |
A |
10: 26,788,667 (GRCm39) |
I593K |
probably damaging |
Het |
Arsj |
T |
C |
3: 126,232,037 (GRCm39) |
V261A |
possibly damaging |
Het |
Atp7b |
A |
T |
8: 22,549,986 (GRCm39) |
|
probably null |
Het |
C2cd2 |
C |
T |
16: 97,669,791 (GRCm39) |
|
probably null |
Het |
Cenpf |
A |
T |
1: 189,384,568 (GRCm39) |
S2571T |
probably damaging |
Het |
Cep162 |
A |
C |
9: 87,109,290 (GRCm39) |
L438V |
probably benign |
Het |
Cfap74 |
A |
T |
4: 155,510,498 (GRCm39) |
N361I |
probably benign |
Het |
Cntn5 |
A |
G |
9: 9,743,633 (GRCm39) |
I548T |
probably damaging |
Het |
Cracd |
A |
T |
5: 76,988,610 (GRCm39) |
|
probably benign |
Het |
Dglucy |
A |
G |
12: 100,816,594 (GRCm39) |
N382S |
probably benign |
Het |
Dnah10 |
C |
A |
5: 124,907,557 (GRCm39) |
N4306K |
probably damaging |
Het |
Fam181a |
A |
T |
12: 103,282,937 (GRCm39) |
M281L |
probably benign |
Het |
Fam186b |
A |
G |
15: 99,176,751 (GRCm39) |
I713T |
possibly damaging |
Het |
Fetub |
C |
T |
16: 22,751,081 (GRCm39) |
R143C |
probably damaging |
Het |
Fry |
A |
T |
5: 150,323,053 (GRCm39) |
Y1068F |
probably benign |
Het |
Fubp3 |
A |
G |
2: 31,493,247 (GRCm39) |
I231V |
probably benign |
Het |
Gbf1 |
A |
G |
19: 46,272,735 (GRCm39) |
D1681G |
possibly damaging |
Het |
Gm10999 |
G |
A |
8: 129,858,130 (GRCm39) |
P5S |
probably damaging |
Het |
Gm12689 |
T |
C |
4: 99,184,402 (GRCm39) |
I85T |
unknown |
Het |
Impg1 |
T |
C |
9: 80,347,318 (GRCm39) |
I9V |
probably benign |
Het |
Lama4 |
A |
G |
10: 38,948,678 (GRCm39) |
|
probably null |
Het |
Lamc1 |
A |
G |
1: 153,109,310 (GRCm39) |
S1161P |
probably damaging |
Het |
Lipm |
T |
A |
19: 34,086,954 (GRCm39) |
|
probably null |
Het |
Lrrc7 |
G |
T |
3: 158,024,073 (GRCm39) |
N107K |
probably damaging |
Het |
Lypd8 |
T |
C |
11: 58,277,586 (GRCm39) |
S123P |
probably damaging |
Het |
Man2a2 |
T |
C |
7: 80,002,729 (GRCm39) |
D1084G |
probably damaging |
Het |
Man2b2 |
A |
G |
5: 36,964,519 (GRCm39) |
S1000P |
probably benign |
Het |
Ms4a7 |
C |
T |
19: 11,299,778 (GRCm39) |
C71Y |
probably benign |
Het |
Myo3b |
A |
G |
2: 70,064,785 (GRCm39) |
N406S |
probably benign |
Het |
Nbr1 |
A |
T |
11: 101,463,290 (GRCm39) |
M586L |
probably benign |
Het |
Nfatc1 |
C |
T |
18: 80,693,070 (GRCm39) |
R677H |
probably benign |
Het |
Nlrc3 |
A |
C |
16: 3,781,899 (GRCm39) |
S503R |
probably damaging |
Het |
Nlrp9c |
A |
T |
7: 26,064,425 (GRCm39) |
F968I |
probably benign |
Het |
Onecut1 |
A |
T |
9: 74,770,614 (GRCm39) |
T346S |
probably damaging |
Het |
Or1j12 |
A |
T |
2: 36,343,455 (GRCm39) |
N286I |
probably damaging |
Het |
Or8b35 |
G |
A |
9: 37,904,307 (GRCm39) |
C168Y |
probably damaging |
Het |
Or8g32 |
A |
G |
9: 39,305,257 (GRCm39) |
N57D |
probably benign |
Het |
Pclo |
A |
T |
5: 14,730,966 (GRCm39) |
K3156M |
unknown |
Het |
Pigo |
C |
T |
4: 43,024,562 (GRCm39) |
|
probably null |
Het |
Plcb4 |
T |
C |
2: 135,809,072 (GRCm39) |
F580S |
probably damaging |
Het |
Plekhm2 |
G |
T |
4: 141,355,411 (GRCm39) |
P879H |
probably damaging |
Het |
Ppm1e |
T |
A |
11: 87,121,716 (GRCm39) |
Y747F |
probably benign |
Het |
Ppwd1 |
A |
G |
13: 104,361,952 (GRCm39) |
F69L |
possibly damaging |
Het |
Prss27 |
C |
A |
17: 24,257,287 (GRCm39) |
Q3K |
possibly damaging |
Het |
Prss29 |
T |
A |
17: 25,540,020 (GRCm39) |
N139K |
possibly damaging |
Het |
Qrich2 |
T |
A |
11: 116,339,191 (GRCm39) |
T1777S |
probably damaging |
Het |
Rbp3 |
A |
T |
14: 33,678,584 (GRCm39) |
H844L |
possibly damaging |
Het |
Rubcnl |
G |
A |
14: 75,269,471 (GRCm39) |
C43Y |
possibly damaging |
Het |
Sec14l5 |
A |
G |
16: 4,985,004 (GRCm39) |
|
probably null |
Het |
Sepsecs |
A |
T |
5: 52,801,356 (GRCm39) |
N435K |
probably damaging |
Het |
Sfrp1 |
A |
G |
8: 23,936,226 (GRCm39) |
K223E |
probably benign |
Het |
Sh3tc2 |
G |
A |
18: 62,106,502 (GRCm39) |
|
probably null |
Het |
Slc35e2 |
C |
T |
4: 155,694,483 (GRCm39) |
P10L |
probably benign |
Het |
Tmprss7 |
A |
G |
16: 45,476,811 (GRCm39) |
F817S |
probably damaging |
Het |
Tril |
T |
C |
6: 53,796,632 (GRCm39) |
N197D |
probably damaging |
Het |
Tspan18 |
T |
C |
2: 93,040,207 (GRCm39) |
T183A |
probably benign |
Het |
Uroc1 |
A |
T |
6: 90,315,586 (GRCm39) |
M156L |
probably benign |
Het |
Wnt16 |
T |
C |
6: 22,291,160 (GRCm39) |
V196A |
probably benign |
Het |
Xpnpep1 |
A |
G |
19: 52,983,950 (GRCm39) |
Y592H |
probably benign |
Het |
Zfp553 |
T |
C |
7: 126,836,202 (GRCm39) |
S586P |
probably benign |
Het |
Zfp619 |
C |
T |
7: 39,185,152 (GRCm39) |
A394V |
unknown |
Het |
Zfp985 |
A |
G |
4: 147,667,702 (GRCm39) |
Y190C |
probably benign |
Het |
Zmynd10 |
T |
A |
9: 107,427,536 (GRCm39) |
D309E |
probably benign |
Het |
Zmynd15 |
T |
C |
11: 70,352,646 (GRCm39) |
L73P |
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 |
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'- CCCATGAAATCACTTGAAGGC -3'
(R):5'- TCAGACTACAGTTGTGGAAGCC -3'
Sequencing Primer
(F):5'- CCATGAAATCACTTGAAGGCTCTGG -3'
(R):5'- GAGGAGCTGGACCATTTTTCATTTAC -3'
|
Posted On |
2016-10-06 |