Incidental Mutation 'IGL02027:Mtus1'
| ID |
184211 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mtus1
|
| Ensembl Gene |
ENSMUSG00000045636 |
| Gene Name |
mitochondrial tumor suppressor 1 |
| Synonyms |
MTSG1, B430305I03Rik, MD44, Atip1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.241)
|
| Stock # |
IGL02027
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
41443951-41586763 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 41446638 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 1151
(E1151G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112626
(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: E381G
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000053554
Gene: ENSMUSG00000045636
AA Change: E381G
| 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: E1151G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000059503
Gene: ENSMUSG00000045636
AA Change: E1151G
| 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: E461G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000091252
Gene: ENSMUSG00000045636
AA Change: E461G
| 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: E1151G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112626
Gene: ENSMUSG00000045636
AA Change: E1151G
| 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 |
|
| Coding Region Coverage |
|
| 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 |
|---|
| Adipor1 |
A |
G |
1: 134,358,923 (GRCm39) |
T312A |
probably benign |
Het |
| Begain |
T |
G |
12: 109,000,235 (GRCm39) |
K384Q |
possibly damaging |
Het |
| C2cd6 |
T |
C |
1: 59,099,763 (GRCm39) |
I393V |
probably benign |
Het |
| Catsperz |
A |
G |
19: 6,902,664 (GRCm39) |
V5A |
probably benign |
Het |
| Cbx1 |
T |
A |
11: 96,692,315 (GRCm39) |
F67L |
probably damaging |
Het |
| Ccn2 |
A |
G |
10: 24,472,307 (GRCm39) |
S117G |
probably damaging |
Het |
| Ccn3 |
T |
C |
15: 54,611,330 (GRCm39) |
V155A |
probably damaging |
Het |
| Cerkl |
T |
C |
2: 79,171,630 (GRCm39) |
|
probably benign |
Het |
| Cubn |
G |
T |
2: 13,292,405 (GRCm39) |
D3259E |
probably damaging |
Het |
| Cyp2u1 |
A |
G |
3: 131,091,600 (GRCm39) |
Y307H |
probably damaging |
Het |
| Dcaf6 |
A |
C |
1: 165,251,910 (GRCm39) |
D71E |
probably damaging |
Het |
| Dclk3 |
A |
T |
9: 111,296,911 (GRCm39) |
K152* |
probably null |
Het |
| Fcgbp |
G |
A |
7: 27,774,629 (GRCm39) |
D68N |
probably damaging |
Het |
| Gm6576 |
A |
G |
15: 27,025,952 (GRCm39) |
|
noncoding transcript |
Het |
| Has2 |
T |
C |
15: 56,531,567 (GRCm39) |
T383A |
probably damaging |
Het |
| Htr1f |
T |
A |
16: 64,746,684 (GRCm39) |
K203* |
probably null |
Het |
| Il36g |
A |
T |
2: 24,082,797 (GRCm39) |
I191L |
probably benign |
Het |
| Iqgap3 |
T |
C |
3: 87,994,649 (GRCm39) |
I116T |
possibly damaging |
Het |
| Itga1 |
C |
T |
13: 115,126,591 (GRCm39) |
|
probably null |
Het |
| Kif5b |
T |
C |
18: 6,209,089 (GRCm39) |
D891G |
possibly damaging |
Het |
| Krt74 |
T |
C |
15: 101,665,229 (GRCm39) |
|
noncoding transcript |
Het |
| Lama3 |
A |
G |
18: 12,649,570 (GRCm39) |
K1776E |
probably damaging |
Het |
| Lats1 |
T |
C |
10: 7,588,712 (GRCm39) |
S1110P |
probably benign |
Het |
| Lipo3 |
T |
A |
19: 33,557,919 (GRCm39) |
K158* |
probably null |
Het |
| Lrrc9 |
T |
A |
12: 72,517,108 (GRCm39) |
|
probably benign |
Het |
| Met |
A |
G |
6: 17,563,726 (GRCm39) |
|
probably benign |
Het |
| Mmp13 |
A |
G |
9: 7,272,955 (GRCm39) |
Y105C |
probably damaging |
Het |
| Nptx1 |
T |
C |
11: 119,435,422 (GRCm39) |
D298G |
possibly damaging |
Het |
| Odad4 |
C |
T |
11: 100,460,728 (GRCm39) |
T495M |
probably damaging |
Het |
| Pdlim1 |
T |
C |
19: 40,231,910 (GRCm39) |
N156S |
probably benign |
Het |
| Pdzk1 |
A |
G |
3: 96,761,989 (GRCm39) |
|
probably benign |
Het |
| Pex5 |
A |
G |
6: 124,375,847 (GRCm39) |
S448P |
probably benign |
Het |
| Polr3e |
G |
T |
7: 120,530,186 (GRCm39) |
R124L |
probably damaging |
Het |
| Ppp2r2c |
C |
T |
5: 37,109,816 (GRCm39) |
R392C |
probably damaging |
Het |
| Prpf4b |
T |
C |
13: 35,073,554 (GRCm39) |
I543T |
probably benign |
Het |
| Prr27 |
A |
G |
5: 87,991,302 (GRCm39) |
S305G |
possibly damaging |
Het |
| Repin1 |
A |
G |
6: 48,573,407 (GRCm39) |
H56R |
probably damaging |
Het |
| Ryr2 |
A |
T |
13: 11,611,998 (GRCm39) |
L408H |
probably damaging |
Het |
| Sbf2 |
T |
A |
7: 110,060,348 (GRCm39) |
Q205H |
probably damaging |
Het |
| Sgo2b |
G |
A |
8: 64,379,863 (GRCm39) |
P990S |
probably benign |
Het |
| Slc33a1 |
G |
T |
3: 63,855,562 (GRCm39) |
P361Q |
probably damaging |
Het |
| Tmem98 |
T |
C |
11: 80,706,483 (GRCm39) |
|
probably benign |
Het |
| Vmn1r16 |
T |
C |
6: 57,300,044 (GRCm39) |
T193A |
possibly damaging |
Het |
| Vmn1r5 |
T |
A |
6: 56,962,640 (GRCm39) |
I105K |
probably damaging |
Het |
| Zfp473 |
A |
T |
7: 44,387,462 (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 |
|
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 |
|
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 |
|
| Posted On |
2014-05-07 |
Incidental Mutation