Incidental Mutation 'IGL01472:Mtus1'
| ID |
88291 |
| 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 # |
IGL01472
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
41443951-41586763 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 41455449 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 941
(T941A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112626
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051379]
[ENSMUST00000059115]
[ENSMUST00000093534]
[ENSMUST00000117735]
[ENSMUST00000118835]
[ENSMUST00000131965]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000051379
AA Change: T171A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000053554
Gene: ENSMUSG00000045636
AA Change: T171A
| 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 benign
Transcript: ENSMUST00000059115
AA Change: T941A
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000059503
Gene: ENSMUSG00000045636
AA Change: T941A
| 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: ENSMUST00000093534
AA Change: T251A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000091252
Gene: ENSMUSG00000045636
AA Change: T251A
| 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 benign
Transcript: ENSMUST00000117735
AA Change: T77A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000113082
Gene: ENSMUSG00000045636
AA Change: T77A
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
16 |
74 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000118835
AA Change: T941A
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000112626
Gene: ENSMUSG00000045636
AA Change: T941A
| 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: ENSMUST00000131965
AA Change: T70A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000121605
Gene: ENSMUSG00000045636
AA Change: T70A
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
9 |
67 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135194
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155626
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm2 |
G |
A |
7: 119,153,759 (GRCm39) |
|
probably null |
Het |
| Adamts4 |
T |
C |
1: 171,080,419 (GRCm39) |
F324S |
probably damaging |
Het |
| Alg10b |
T |
A |
15: 90,111,900 (GRCm39) |
L248Q |
possibly damaging |
Het |
| Antxr2 |
T |
A |
5: 98,175,358 (GRCm39) |
T90S |
probably benign |
Het |
| Arhgap21 |
C |
T |
2: 20,854,392 (GRCm39) |
E1657K |
probably damaging |
Het |
| Atp13a5 |
T |
G |
16: 29,094,175 (GRCm39) |
D803A |
probably damaging |
Het |
| Bzw2 |
T |
C |
12: 36,159,795 (GRCm39) |
D185G |
probably damaging |
Het |
| Camta2 |
A |
G |
11: 70,574,950 (GRCm39) |
S62P |
probably damaging |
Het |
| Cep85 |
T |
C |
4: 133,861,477 (GRCm39) |
Q599R |
possibly damaging |
Het |
| Chsy3 |
G |
A |
18: 59,309,439 (GRCm39) |
V231I |
probably damaging |
Het |
| Cnbd2 |
C |
T |
2: 156,217,268 (GRCm39) |
R457W |
probably damaging |
Het |
| Col20a1 |
A |
G |
2: 180,649,625 (GRCm39) |
T1036A |
probably benign |
Het |
| Colgalt2 |
T |
C |
1: 152,382,629 (GRCm39) |
Y494H |
probably damaging |
Het |
| Cox15 |
G |
T |
19: 43,732,104 (GRCm39) |
Y237* |
probably null |
Het |
| Cpne9 |
C |
A |
6: 113,269,983 (GRCm39) |
S281Y |
possibly damaging |
Het |
| D830013O20Rik |
G |
A |
12: 73,411,090 (GRCm39) |
|
noncoding transcript |
Het |
| Dnah5 |
C |
T |
15: 28,331,872 (GRCm39) |
R2153C |
probably damaging |
Het |
| Fam228a |
A |
G |
12: 4,765,610 (GRCm39) |
I267T |
possibly damaging |
Het |
| Fat4 |
G |
A |
3: 38,942,219 (GRCm39) |
A371T |
probably damaging |
Het |
| Gm1818 |
T |
C |
12: 48,603,072 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5592 |
T |
C |
7: 40,935,498 (GRCm39) |
|
probably benign |
Het |
| Golga4 |
C |
A |
9: 118,361,642 (GRCm39) |
L207I |
probably damaging |
Het |
| Gtf3c1 |
A |
G |
7: 125,250,226 (GRCm39) |
|
probably benign |
Het |
| Hao1 |
C |
T |
2: 134,396,150 (GRCm39) |
E35K |
probably benign |
Het |
| Iqch |
T |
C |
9: 63,455,216 (GRCm39) |
I194V |
probably benign |
Het |
| Ism1 |
A |
T |
2: 139,599,223 (GRCm39) |
T392S |
probably damaging |
Het |
| Lcmt1 |
A |
G |
7: 123,027,376 (GRCm39) |
Y313C |
probably damaging |
Het |
| Loxl4 |
A |
G |
19: 42,585,988 (GRCm39) |
C718R |
probably damaging |
Het |
| Lyar |
T |
G |
5: 38,382,066 (GRCm39) |
I16R |
possibly damaging |
Het |
| Map3k20 |
T |
C |
2: 72,185,897 (GRCm39) |
|
probably benign |
Het |
| Myh8 |
A |
G |
11: 67,179,205 (GRCm39) |
|
probably benign |
Het |
| Myof |
T |
C |
19: 37,911,524 (GRCm39) |
D1482G |
probably benign |
Het |
| Nr4a3 |
C |
A |
4: 48,071,133 (GRCm39) |
A534D |
probably damaging |
Het |
| Oas1c |
A |
G |
5: 120,940,986 (GRCm39) |
V269A |
probably damaging |
Het |
| Odf2 |
T |
A |
2: 29,783,071 (GRCm39) |
S5T |
probably damaging |
Het |
| Or5d36 |
T |
A |
2: 87,901,322 (GRCm39) |
T135S |
possibly damaging |
Het |
| Or5p4 |
T |
C |
7: 107,680,411 (GRCm39) |
S137P |
probably benign |
Het |
| Or9s27 |
T |
A |
1: 92,516,694 (GRCm39) |
M214K |
possibly damaging |
Het |
| Pbk |
A |
G |
14: 66,054,159 (GRCm39) |
T235A |
probably benign |
Het |
| Phrf1 |
T |
C |
7: 140,836,403 (GRCm39) |
|
probably benign |
Het |
| Prkci |
A |
G |
3: 31,104,341 (GRCm39) |
D568G |
probably damaging |
Het |
| Prom2 |
T |
A |
2: 127,374,802 (GRCm39) |
Y578F |
probably benign |
Het |
| Prph |
T |
C |
15: 98,956,474 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
A |
G |
2: 112,502,593 (GRCm39) |
V3527A |
probably benign |
Het |
| Scn10a |
C |
T |
9: 119,446,829 (GRCm39) |
V1400I |
probably damaging |
Het |
| Slc10a2 |
A |
G |
8: 5,141,652 (GRCm39) |
L244P |
probably damaging |
Het |
| Tardbp |
A |
G |
4: 148,706,521 (GRCm39) |
V96A |
probably benign |
Het |
| Tbc1d4 |
C |
A |
14: 101,727,300 (GRCm39) |
E504* |
probably null |
Het |
| Tmed3 |
T |
C |
9: 89,584,928 (GRCm39) |
E109G |
probably benign |
Het |
| Tnc |
C |
T |
4: 63,924,656 (GRCm39) |
R1014H |
probably benign |
Het |
| Tpcn2 |
C |
T |
7: 144,821,115 (GRCm39) |
R313Q |
probably damaging |
Het |
| Trim45 |
A |
G |
3: 100,835,381 (GRCm39) |
T455A |
probably benign |
Het |
| Txlna |
A |
G |
4: 129,525,908 (GRCm39) |
I313T |
probably damaging |
Het |
| Vmn1r202 |
A |
T |
13: 22,686,159 (GRCm39) |
I86K |
possibly damaging |
Het |
| Vmn2r14 |
C |
A |
5: 109,364,180 (GRCm39) |
E579* |
probably null |
Het |
| Wrn |
T |
A |
8: 33,819,200 (GRCm39) |
I8F |
possibly damaging |
Het |
| Zc3h18 |
A |
G |
8: 123,143,396 (GRCm39) |
|
probably benign |
Het |
| Zfyve26 |
A |
T |
12: 79,323,117 (GRCm39) |
H876Q |
probably benign |
Het |
| Znrf2 |
C |
T |
6: 54,840,957 (GRCm39) |
T177I |
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 |
|
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 |
|
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 |
2013-11-18 |
Incidental Mutation