Incidental Mutation 'R0220:Mtus1'
| ID |
33786 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mtus1
|
| Ensembl Gene |
ENSMUSG00000045636 |
| Gene Name |
mitochondrial tumor suppressor 1 |
| Synonyms |
MTSG1, B430305I03Rik, MD44, Atip1 |
| MMRRC Submission |
038469-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.241)
|
| Stock # |
R0220 (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 41447609 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 442
(M442K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091252
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034004]
[ENSMUST00000051379]
[ENSMUST00000059115]
[ENSMUST00000093534]
[ENSMUST00000118835]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034004
|
| SMART Domains |
Protein: ENSMUSP00000034004
Gene: ENSMUSG00000031595
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
39 |
53 |
N/A |
INTRINSIC |
|
IG_like
|
81 |
168 |
5.41e0 |
SMART |
|
SCOP:d1fltx_
|
171 |
260 |
4e-23 |
SMART |
|
IG
|
278 |
375 |
2.75e-1 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000051379
AA Change: M362K
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000053554
Gene: ENSMUSG00000045636
AA Change: M362K
| 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: M1132K
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000059503
Gene: ENSMUSG00000045636
AA Change: M1132K
| 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 damaging
Transcript: ENSMUST00000093534
AA Change: M442K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000091252
Gene: ENSMUSG00000045636
AA Change: M442K
| 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: M1132K
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000112626
Gene: ENSMUSG00000045636
AA Change: M1132K
| 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: ENSMUST00000135194
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 96.9%
- 20x: 94.6%
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
T |
C |
12: 71,195,194 (GRCm39) |
|
probably null |
Het |
| Abcc5 |
A |
G |
16: 20,187,852 (GRCm39) |
V863A |
probably benign |
Het |
| Anxa6 |
A |
C |
11: 54,872,588 (GRCm39) |
|
probably null |
Het |
| Armc10 |
A |
G |
5: 21,866,582 (GRCm39) |
K296R |
probably benign |
Het |
| Arpc2 |
T |
A |
1: 74,287,293 (GRCm39) |
F38I |
probably damaging |
Het |
| Ass1 |
A |
T |
2: 31,404,831 (GRCm39) |
N371Y |
probably damaging |
Het |
| Bcl6 |
T |
A |
16: 23,784,969 (GRCm39) |
H677L |
possibly damaging |
Het |
| Bcl7a |
G |
A |
5: 123,489,982 (GRCm39) |
V49I |
probably damaging |
Het |
| Ccnj |
T |
C |
19: 40,833,254 (GRCm39) |
L144P |
probably damaging |
Het |
| Cdh8 |
G |
T |
8: 99,838,311 (GRCm39) |
P510T |
probably benign |
Het |
| Cgnl1 |
C |
A |
9: 71,632,225 (GRCm39) |
K375N |
possibly damaging |
Het |
| Cubn |
C |
A |
2: 13,361,520 (GRCm39) |
R1695L |
probably damaging |
Het |
| Cyp3a59 |
G |
A |
5: 146,035,080 (GRCm39) |
V253I |
probably benign |
Het |
| Cyp4f13 |
A |
G |
17: 33,148,476 (GRCm39) |
I208T |
probably damaging |
Het |
| Dennd4a |
A |
C |
9: 64,759,727 (GRCm39) |
E277D |
probably damaging |
Het |
| Depdc1a |
G |
A |
3: 159,229,542 (GRCm39) |
V625I |
probably benign |
Het |
| Dot1l |
A |
T |
10: 80,621,692 (GRCm39) |
D448V |
probably damaging |
Het |
| Efhc1 |
A |
G |
1: 21,037,582 (GRCm39) |
D253G |
probably damaging |
Het |
| Eme1 |
T |
A |
11: 94,541,084 (GRCm39) |
E246V |
probably null |
Het |
| Foxred1 |
A |
G |
9: 35,120,749 (GRCm39) |
L128P |
probably damaging |
Het |
| Gm4787 |
G |
T |
12: 81,425,422 (GRCm39) |
S245R |
probably damaging |
Het |
| Gm5141 |
T |
A |
13: 62,922,271 (GRCm39) |
K299N |
probably damaging |
Het |
| Greb1 |
C |
A |
12: 16,732,287 (GRCm39) |
R1558L |
probably damaging |
Het |
| Ip6k3 |
A |
T |
17: 27,364,203 (GRCm39) |
F282I |
probably damaging |
Het |
| Kdm2a |
T |
C |
19: 4,374,947 (GRCm39) |
D288G |
possibly damaging |
Het |
| Kdm4d |
A |
T |
9: 14,374,418 (GRCm39) |
V480E |
probably benign |
Het |
| Kif26a |
A |
T |
12: 112,123,824 (GRCm39) |
Q143L |
probably damaging |
Het |
| Klhl41 |
G |
A |
2: 69,500,829 (GRCm39) |
D97N |
probably benign |
Het |
| Krt34 |
C |
T |
11: 99,929,519 (GRCm39) |
|
probably benign |
Het |
| Lcn11 |
A |
T |
2: 25,667,843 (GRCm39) |
H77L |
probably benign |
Het |
| Megf6 |
G |
A |
4: 154,342,672 (GRCm39) |
R529H |
probably damaging |
Het |
| Mipol1 |
A |
G |
12: 57,503,936 (GRCm39) |
E368G |
probably damaging |
Het |
| Naca |
T |
C |
10: 127,879,255 (GRCm39) |
|
probably benign |
Het |
| Nbea |
G |
A |
3: 55,912,724 (GRCm39) |
T1021I |
probably benign |
Het |
| Nfib |
A |
T |
4: 82,215,013 (GRCm39) |
V530E |
probably damaging |
Het |
| Nptx1 |
A |
G |
11: 119,435,467 (GRCm39) |
V283A |
probably damaging |
Het |
| Opn5 |
A |
G |
17: 42,907,495 (GRCm39) |
V127A |
probably benign |
Het |
| Or4c126 |
G |
T |
2: 89,824,206 (GRCm39) |
L156F |
probably benign |
Het |
| Or5h22 |
A |
T |
16: 58,895,095 (GRCm39) |
M116K |
probably damaging |
Het |
| Pcgf6 |
A |
G |
19: 47,028,529 (GRCm39) |
V291A |
probably benign |
Het |
| Pilrb2 |
C |
A |
5: 137,869,459 (GRCm39) |
R47L |
probably benign |
Het |
| Prom2 |
A |
C |
2: 127,383,027 (GRCm39) |
S72A |
probably benign |
Het |
| Sema3e |
T |
C |
5: 14,214,167 (GRCm39) |
F144S |
possibly damaging |
Het |
| Sephs1 |
A |
G |
2: 4,904,371 (GRCm39) |
T250A |
probably benign |
Het |
| Smarcc2 |
A |
T |
10: 128,319,505 (GRCm39) |
D798V |
probably benign |
Het |
| Taf5 |
T |
C |
19: 47,068,999 (GRCm39) |
S563P |
probably damaging |
Het |
| Topaz1 |
A |
G |
9: 122,578,368 (GRCm39) |
H426R |
possibly damaging |
Het |
| Tpgs1 |
T |
A |
10: 79,511,271 (GRCm39) |
C138S |
possibly damaging |
Het |
| Traf1 |
A |
T |
2: 34,839,115 (GRCm39) |
V70D |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,641,737 (GRCm39) |
Y13453C |
probably damaging |
Het |
| Ubxn4 |
T |
A |
1: 128,183,931 (GRCm39) |
V97D |
possibly damaging |
Het |
| Ugt1a8 |
A |
T |
1: 88,016,057 (GRCm39) |
I157L |
probably benign |
Het |
| Vmn2r13 |
A |
T |
5: 109,304,332 (GRCm39) |
C700S |
probably damaging |
Het |
| Wee1 |
A |
T |
7: 109,723,733 (GRCm39) |
D216V |
probably benign |
Het |
| Zc3h4 |
T |
C |
7: 16,163,198 (GRCm39) |
Y533H |
unknown |
Het |
| Zfp1005 |
A |
T |
2: 150,110,595 (GRCm39) |
Q428H |
unknown |
Het |
| Zfp81 |
A |
G |
17: 33,555,698 (GRCm39) |
I43T |
possibly damaging |
Het |
| Zfp963 |
A |
T |
8: 70,196,145 (GRCm39) |
Y103N |
probably benign |
Het |
| Zfp963 |
A |
T |
8: 70,196,143 (GRCm39) |
Y103* |
probably null |
Het |
| Zzef1 |
G |
T |
11: 72,756,792 (GRCm39) |
D1126Y |
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 |
|
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 |
|
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'- TGACAGCGCCATTACAGTTAGTGAG -3'
(R):5'- ATCAGTGTGCCACTATGGCTCCTC -3'
Sequencing Primer
(F):5'- AGTGAGCTGCAGTTAGGTGA -3'
(R):5'- CCTGATCAACTTGTTGATGGTGC -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation