Incidental Mutation 'R5598:Mtus1'
| ID |
437921 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mtus1
|
| Ensembl Gene |
ENSMUSG00000045636 |
| Gene Name |
mitochondrial tumor suppressor 1 |
| Synonyms |
MTSG1, B430305I03Rik, MD44, Atip1 |
| MMRRC Submission |
043150-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.241)
|
| Stock # |
R5598 (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 T
at 41475592 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 824
(I824N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112626
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051379]
[ENSMUST00000059115]
[ENSMUST00000093534]
[ENSMUST00000118835]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000051379
AA Change: I54N
PolyPhen 2
Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000053554
Gene: ENSMUSG00000045636
AA Change: I54N
| 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 damaging
Transcript: ENSMUST00000059115
AA Change: I824N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000059503
Gene: ENSMUSG00000045636
AA Change: I824N
| 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: ENSMUST00000093534
AA Change: I134N
PolyPhen 2
Score 0.784 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000091252
Gene: ENSMUSG00000045636
AA Change: I134N
| 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 damaging
Transcript: ENSMUST00000118835
AA Change: I824N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112626
Gene: ENSMUSG00000045636
AA Change: I824N
| 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: ENSMUST00000123703
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127665
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142936
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155174
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152188
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.8%
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adnp |
T |
C |
2: 168,025,645 (GRCm39) |
D550G |
probably damaging |
Het |
| Ano6 |
A |
G |
15: 95,839,228 (GRCm39) |
T457A |
probably damaging |
Het |
| Ano8 |
A |
G |
8: 71,935,221 (GRCm39) |
V359A |
probably damaging |
Het |
| Aqp2 |
G |
T |
15: 99,476,993 (GRCm39) |
|
probably benign |
Het |
| Atp13a5 |
C |
T |
16: 29,075,829 (GRCm39) |
|
probably benign |
Het |
| Carmil3 |
ACCCCC |
ACCCCCCCCCCCC |
14: 55,741,456 (GRCm39) |
|
probably null |
Het |
| Ccr1l1 |
A |
G |
9: 123,778,030 (GRCm39) |
V139A |
probably benign |
Het |
| Cecr2 |
A |
G |
6: 120,708,407 (GRCm39) |
|
probably null |
Het |
| Celsr2 |
A |
G |
3: 108,310,119 (GRCm39) |
V1537A |
possibly damaging |
Het |
| Chd6 |
T |
A |
2: 160,856,032 (GRCm39) |
K741N |
probably damaging |
Het |
| Chrna1 |
T |
A |
2: 73,397,075 (GRCm39) |
T405S |
probably benign |
Het |
| Cish |
T |
C |
9: 107,174,227 (GRCm39) |
V5A |
possibly damaging |
Het |
| Cmss1 |
C |
A |
16: 57,131,649 (GRCm39) |
C159F |
probably damaging |
Het |
| Col1a2 |
A |
G |
6: 4,516,916 (GRCm39) |
|
probably benign |
Het |
| Cradd |
G |
T |
10: 95,011,666 (GRCm39) |
S158* |
probably null |
Het |
| Dmxl1 |
G |
A |
18: 49,997,545 (GRCm39) |
A578T |
probably benign |
Het |
| Drd2 |
A |
G |
9: 49,318,315 (GRCm39) |
N419S |
possibly damaging |
Het |
| E4f1 |
T |
C |
17: 24,666,103 (GRCm39) |
T232A |
probably damaging |
Het |
| Fat2 |
T |
A |
11: 55,171,956 (GRCm39) |
E2919V |
probably damaging |
Het |
| Gc |
T |
C |
5: 89,586,309 (GRCm39) |
|
probably null |
Het |
| Gprc5c |
G |
T |
11: 114,755,093 (GRCm39) |
V257L |
possibly damaging |
Het |
| Hsd11b2 |
G |
A |
8: 106,249,143 (GRCm39) |
V173I |
probably benign |
Het |
| Kdm6b |
C |
T |
11: 69,296,900 (GRCm39) |
A456T |
probably damaging |
Het |
| Kif18b |
G |
A |
11: 102,799,015 (GRCm39) |
P729S |
possibly damaging |
Het |
| Lgi1 |
A |
G |
19: 38,294,629 (GRCm39) |
D467G |
possibly damaging |
Het |
| Loxl1 |
A |
G |
9: 58,219,650 (GRCm39) |
Y174H |
possibly damaging |
Het |
| Myrf |
C |
T |
19: 10,192,654 (GRCm39) |
E622K |
probably benign |
Het |
| Ncam1 |
A |
G |
9: 49,457,051 (GRCm39) |
Y416H |
probably damaging |
Het |
| Nceh1 |
A |
G |
3: 27,280,248 (GRCm39) |
T132A |
probably benign |
Het |
| Nhlrc4 |
G |
A |
17: 26,162,466 (GRCm39) |
P94S |
probably damaging |
Het |
| Or2v1 |
C |
G |
11: 49,025,941 (GRCm39) |
D307E |
probably benign |
Het |
| Or52s1b |
A |
T |
7: 102,822,841 (GRCm39) |
M1K |
probably null |
Het |
| Or8b1 |
A |
T |
9: 38,399,821 (GRCm39) |
R165S |
possibly damaging |
Het |
| Pcdhac2 |
A |
G |
18: 37,277,476 (GRCm39) |
Y152C |
probably damaging |
Het |
| Pdia3 |
C |
A |
2: 121,244,611 (GRCm39) |
T8K |
possibly damaging |
Het |
| Pogz |
T |
A |
3: 94,771,820 (GRCm39) |
V304E |
probably damaging |
Het |
| Snrnp200 |
A |
G |
2: 127,068,007 (GRCm39) |
S835G |
possibly damaging |
Het |
| Susd4 |
T |
C |
1: 182,719,635 (GRCm39) |
S417P |
probably benign |
Het |
| Thsd7b |
G |
A |
1: 129,523,578 (GRCm39) |
R127H |
probably damaging |
Het |
| Tmco4 |
A |
G |
4: 138,781,216 (GRCm39) |
D460G |
probably damaging |
Het |
| Ttll9 |
T |
A |
2: 152,826,234 (GRCm39) |
M148K |
probably damaging |
Het |
| Ubn2 |
G |
A |
6: 38,467,323 (GRCm39) |
C677Y |
probably benign |
Het |
| Vmn2r98 |
T |
C |
17: 19,301,161 (GRCm39) |
I721T |
probably benign |
Het |
| Wdfy4 |
C |
A |
14: 32,855,454 (GRCm39) |
C720F |
probably damaging |
Het |
| Zzef1 |
G |
A |
11: 72,807,347 (GRCm39) |
D2742N |
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 |
|
R5468:Mtus1
|
UTSW |
8 |
41,537,615 (GRCm39) |
missense |
probably benign |
0.00 |
|
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'- TTGTAGGACAAGCATCCCCG -3'
(R):5'- TAAAACATGGTTCAGATGCTCTGG -3'
Sequencing Primer
(F):5'- TTGATAGACGTCCTTACCTCAGACAG -3'
(R):5'- CAGATGCTCTGGTGTGGC -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation