Incidental Mutation 'R1894:Mtus1'
| ID |
211805 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mtus1
|
| Ensembl Gene |
ENSMUSG00000045636 |
| Gene Name |
mitochondrial tumor suppressor 1 |
| Synonyms |
MTSG1, B430305I03Rik, MD44, Atip1 |
| MMRRC Submission |
039914-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.232)
|
| Stock # |
R1894 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
41443951-41586763 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 41537362 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Asparagine
at position 118
(S118N)
|
| 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: S118N
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000059503
Gene: ENSMUSG00000045636
AA Change: S118N
| 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: S118N
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000112626
Gene: ENSMUSG00000045636
AA Change: S118N
| 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 damaging
Transcript: ENSMUST00000145860
AA Change: S118N
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000119440
Gene: ENSMUSG00000045636
AA Change: S118N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
524 |
539 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155055
|
| Coding Region Coverage |
- 1x: 97.3%
- 3x: 96.8%
- 10x: 95.4%
- 20x: 93.0%
|
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb2 |
T |
C |
4: 129,907,419 (GRCm39) |
F977S |
probably damaging |
Het |
| Ago4 |
A |
G |
4: 126,406,393 (GRCm39) |
Y306H |
probably benign |
Het |
| Cblc |
T |
C |
7: 19,526,502 (GRCm39) |
T196A |
probably damaging |
Het |
| Cfap52 |
T |
A |
11: 67,844,445 (GRCm39) |
|
probably null |
Het |
| Cops3 |
T |
C |
11: 59,710,844 (GRCm39) |
N375S |
probably benign |
Het |
| Crb1 |
T |
C |
1: 139,170,931 (GRCm39) |
T759A |
probably benign |
Het |
| Dnah3 |
T |
C |
7: 119,685,557 (GRCm39) |
K153E |
probably benign |
Het |
| Elovl1 |
C |
T |
4: 118,287,945 (GRCm39) |
S27F |
probably damaging |
Het |
| Erc2 |
A |
G |
14: 27,863,185 (GRCm39) |
E804G |
probably damaging |
Het |
| Fam110b |
G |
T |
4: 5,798,840 (GRCm39) |
C86F |
probably damaging |
Het |
| Fbn1 |
T |
A |
2: 125,236,541 (GRCm39) |
R380W |
probably damaging |
Het |
| Gatad2a |
C |
T |
8: 70,369,301 (GRCm39) |
R221Q |
probably damaging |
Het |
| Gcn1 |
C |
T |
5: 115,727,174 (GRCm39) |
P677L |
probably damaging |
Het |
| Gm6020 |
C |
T |
19: 61,172,391 (GRCm39) |
H22Y |
possibly damaging |
Het |
| Gm9817 |
T |
C |
13: 45,232,605 (GRCm39) |
V136A |
unknown |
Het |
| Gmip |
T |
A |
8: 70,273,622 (GRCm39) |
L971H |
probably damaging |
Het |
| Gnptab |
G |
A |
10: 88,254,989 (GRCm39) |
E192K |
possibly damaging |
Het |
| Grm7 |
G |
A |
6: 111,335,568 (GRCm39) |
V660I |
probably benign |
Het |
| Helz2 |
G |
A |
2: 180,876,082 (GRCm39) |
P1471S |
probably damaging |
Het |
| Herc1 |
G |
A |
9: 66,386,743 (GRCm39) |
G3786S |
probably damaging |
Het |
| Isg20 |
T |
C |
7: 78,569,647 (GRCm39) |
V206A |
probably benign |
Het |
| Jund |
T |
A |
8: 71,152,470 (GRCm39) |
I255N |
probably damaging |
Het |
| Kcnt2 |
A |
T |
1: 140,353,079 (GRCm39) |
I263F |
probably damaging |
Het |
| Kif2c |
A |
T |
4: 117,019,420 (GRCm39) |
L561Q |
probably benign |
Het |
| Klhl3 |
T |
C |
13: 58,157,189 (GRCm39) |
D546G |
probably damaging |
Het |
| Klk1b4 |
A |
T |
7: 43,859,054 (GRCm39) |
Q24L |
probably benign |
Het |
| Ltbp2 |
A |
T |
12: 84,834,735 (GRCm39) |
C225S |
probably damaging |
Het |
| Mcub |
T |
C |
3: 129,728,312 (GRCm39) |
H55R |
probably benign |
Het |
| Mecp2 |
C |
T |
X: 73,080,781 (GRCm39) |
A79T |
probably damaging |
Het |
| Med18 |
G |
A |
4: 132,187,242 (GRCm39) |
R86* |
probably null |
Het |
| Mfsd2b |
T |
C |
12: 4,919,155 (GRCm39) |
E63G |
probably damaging |
Het |
| Mybbp1a |
C |
T |
11: 72,336,863 (GRCm39) |
T565I |
probably benign |
Het |
| Myo15b |
G |
A |
11: 115,777,899 (GRCm39) |
G1049S |
probably damaging |
Het |
| Nfrkb |
T |
A |
9: 31,326,064 (GRCm39) |
V1169E |
probably benign |
Het |
| Nr2f2 |
T |
A |
7: 70,004,419 (GRCm39) |
M411L |
probably benign |
Het |
| Nup155 |
A |
T |
15: 8,187,244 (GRCm39) |
H1391L |
probably damaging |
Het |
| Nup214 |
A |
T |
2: 31,886,392 (GRCm39) |
T585S |
possibly damaging |
Het |
| Or5m13 |
C |
T |
2: 85,748,599 (GRCm39) |
T110I |
probably benign |
Het |
| Or6c214 |
A |
T |
10: 129,590,943 (GRCm39) |
C125* |
probably null |
Het |
| Or7e177 |
T |
C |
9: 20,211,633 (GRCm39) |
S47P |
probably benign |
Het |
| Or8b12b |
T |
A |
9: 37,684,163 (GRCm39) |
D69E |
possibly damaging |
Het |
| Pih1d1 |
T |
A |
7: 44,807,165 (GRCm39) |
I166N |
probably damaging |
Het |
| Prl2c5 |
T |
C |
13: 13,366,263 (GRCm39) |
F181L |
probably benign |
Het |
| Prx |
C |
T |
7: 27,218,535 (GRCm39) |
T1012I |
possibly damaging |
Het |
| Rassf8 |
T |
A |
6: 145,754,199 (GRCm39) |
V5E |
probably damaging |
Het |
| Rassf9 |
C |
A |
10: 102,380,755 (GRCm39) |
R44S |
possibly damaging |
Het |
| Relch |
A |
T |
1: 105,592,301 (GRCm39) |
I157F |
probably benign |
Het |
| Sde2 |
G |
A |
1: 180,687,573 (GRCm39) |
S153N |
probably benign |
Het |
| Sec16b |
T |
A |
1: 157,380,545 (GRCm39) |
M372K |
possibly damaging |
Het |
| Sgcd |
A |
T |
11: 47,085,937 (GRCm39) |
I71N |
probably damaging |
Het |
| Slco5a1 |
C |
T |
1: 12,942,483 (GRCm39) |
C721Y |
probably damaging |
Het |
| Slx4ip |
A |
T |
2: 136,910,038 (GRCm39) |
K344N |
probably benign |
Het |
| Sorcs3 |
A |
T |
19: 48,782,713 (GRCm39) |
Q1076L |
probably benign |
Het |
| Spata21 |
A |
T |
4: 140,838,692 (GRCm39) |
N581I |
possibly damaging |
Het |
| Spata31d1d |
G |
T |
13: 59,875,936 (GRCm39) |
P533H |
probably benign |
Het |
| Spice1 |
T |
G |
16: 44,185,989 (GRCm39) |
S111A |
probably damaging |
Het |
| Tex14 |
T |
G |
11: 87,365,274 (GRCm39) |
F61V |
probably damaging |
Het |
| Timp3 |
C |
T |
10: 86,181,716 (GRCm39) |
R196* |
probably null |
Het |
| Tll2 |
A |
G |
19: 41,077,110 (GRCm39) |
|
probably null |
Het |
| Tppp |
A |
G |
13: 74,169,326 (GRCm39) |
D22G |
possibly damaging |
Het |
| Trim24 |
G |
T |
6: 37,934,013 (GRCm39) |
R652L |
probably damaging |
Het |
| Uaca |
T |
C |
9: 60,777,718 (GRCm39) |
S702P |
possibly damaging |
Het |
| Uggt2 |
T |
C |
14: 119,287,130 (GRCm39) |
E146G |
probably damaging |
Het |
| Vmn1r233 |
T |
C |
17: 21,213,994 (GRCm39) |
S319G |
probably benign |
Het |
| Wdr47 |
A |
T |
3: 108,530,692 (GRCm39) |
Q395L |
possibly damaging |
Het |
| Wrnip1 |
A |
G |
13: 32,989,319 (GRCm39) |
|
probably null |
Het |
| Zfp420 |
A |
T |
7: 29,573,933 (GRCm39) |
H51L |
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 |
|
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 |
|
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'- TGCAAACCTCCAGGAGCATG -3'
(R):5'- ATGAAATGGATCCTGCGGTG -3'
Sequencing Primer
(F):5'- AGGCTGACCCTGTTCAATATCATGG -3'
(R):5'- ATCCTGCGGTGGACAGTAG -3'
|
| Posted On |
2014-06-30 |
Incidental Mutation