Incidental Mutation 'R0178:Mtus1'
ID |
60653 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mtus1
|
Ensembl Gene |
ENSMUSG00000045636 |
Gene Name |
mitochondrial tumor suppressor 1 |
Synonyms |
MTSG1, B430305I03Rik, MD44, Atip1 |
MMRRC Submission |
038446-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.241)
|
Stock # |
R0178 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
41443951-41586763 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 41455398 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Isoleucine
at position 87
(L87I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000121605
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051379]
[ENSMUST00000059115]
[ENSMUST00000093534]
[ENSMUST00000117735]
[ENSMUST00000118835]
[ENSMUST00000131965]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000051379
AA Change: L188I
PolyPhen 2
Score 0.662 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000053554 Gene: ENSMUSG00000045636 AA Change: L188I
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 |
possibly damaging
Transcript: ENSMUST00000059115
AA Change: L958I
PolyPhen 2
Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000059503 Gene: ENSMUSG00000045636 AA Change: L958I
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: L268I
PolyPhen 2
Score 0.662 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000091252 Gene: ENSMUSG00000045636 AA Change: L268I
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 |
possibly damaging
Transcript: ENSMUST00000117735
AA Change: L94I
PolyPhen 2
Score 0.866 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000113082 Gene: ENSMUSG00000045636 AA Change: L94I
Domain | Start | End | E-Value | Type |
coiled coil region
|
16 |
74 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000118835
AA Change: L958I
PolyPhen 2
Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000112626 Gene: ENSMUSG00000045636 AA Change: L958I
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: ENSMUST00000131965
AA Change: L87I
PolyPhen 2
Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000121605 Gene: ENSMUSG00000045636 AA Change: L87I
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
|
Meta Mutation Damage Score |
0.0750 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.1%
- 10x: 95.5%
- 20x: 88.8%
|
Validation Efficiency |
95% (69/73) |
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930596D02Rik |
T |
G |
14: 35,533,435 (GRCm39) |
N111T |
probably benign |
Het |
Abca1 |
T |
C |
4: 53,081,953 (GRCm39) |
D769G |
possibly damaging |
Het |
Adcy6 |
G |
T |
15: 98,502,096 (GRCm39) |
Q173K |
probably benign |
Het |
Amotl1 |
G |
A |
9: 14,460,069 (GRCm39) |
A890V |
probably benign |
Het |
Arfgap2 |
C |
T |
2: 91,097,706 (GRCm39) |
A141V |
probably benign |
Het |
Asb2 |
G |
A |
12: 103,291,811 (GRCm39) |
P324L |
probably damaging |
Het |
Brd10 |
A |
G |
19: 29,732,188 (GRCm39) |
S342P |
probably damaging |
Het |
Cacna1g |
G |
A |
11: 94,354,309 (GRCm39) |
T202I |
probably damaging |
Het |
Capn5 |
A |
G |
7: 97,782,098 (GRCm39) |
L214P |
probably damaging |
Het |
Cdh20 |
A |
T |
1: 104,902,776 (GRCm39) |
D489V |
possibly damaging |
Het |
Cers5 |
C |
A |
15: 99,644,905 (GRCm39) |
|
probably benign |
Het |
Chct1 |
A |
G |
11: 85,069,264 (GRCm39) |
H94R |
probably benign |
Het |
Chrnb3 |
T |
A |
8: 27,883,392 (GRCm39) |
V111D |
probably damaging |
Het |
Clec2m |
T |
C |
6: 129,303,786 (GRCm39) |
R60G |
probably benign |
Het |
Colec12 |
C |
T |
18: 9,858,921 (GRCm39) |
P568L |
unknown |
Het |
Cyp2r1 |
T |
C |
7: 114,149,643 (GRCm39) |
E248G |
probably damaging |
Het |
Dnaaf11 |
A |
C |
15: 66,325,950 (GRCm39) |
D208E |
probably benign |
Het |
Dnmt3b |
A |
G |
2: 153,516,938 (GRCm39) |
T536A |
probably benign |
Het |
Eef2 |
G |
A |
10: 81,016,126 (GRCm39) |
V496M |
possibly damaging |
Het |
Fam118a |
T |
C |
15: 84,930,081 (GRCm39) |
|
probably benign |
Het |
Fer1l6 |
T |
A |
15: 58,509,763 (GRCm39) |
|
probably null |
Het |
Fhad1 |
A |
C |
4: 141,682,651 (GRCm39) |
F497V |
probably benign |
Het |
Gbe1 |
G |
A |
16: 70,275,274 (GRCm39) |
G358D |
probably damaging |
Het |
Gdf10 |
A |
G |
14: 33,646,058 (GRCm39) |
D69G |
probably damaging |
Het |
Ggt6 |
A |
G |
11: 72,327,644 (GRCm39) |
H150R |
possibly damaging |
Het |
Gm45713 |
A |
T |
7: 44,783,882 (GRCm39) |
L110Q |
probably damaging |
Het |
Gm9847 |
T |
C |
12: 14,544,649 (GRCm39) |
|
noncoding transcript |
Het |
Grwd1 |
T |
C |
7: 45,480,054 (GRCm39) |
E51G |
probably damaging |
Het |
Gvin3 |
A |
T |
7: 106,201,028 (GRCm39) |
Y739N |
probably damaging |
Het |
H13 |
A |
G |
2: 152,522,987 (GRCm39) |
Y100C |
probably damaging |
Het |
Kcne1 |
A |
C |
16: 92,145,697 (GRCm39) |
M49R |
probably damaging |
Het |
Kcnma1 |
C |
T |
14: 23,576,835 (GRCm39) |
R236H |
probably damaging |
Het |
Knl1 |
T |
A |
2: 118,888,886 (GRCm39) |
|
probably benign |
Het |
Krt40 |
T |
C |
11: 99,432,565 (GRCm39) |
I150M |
probably damaging |
Het |
Ldb2 |
A |
T |
5: 44,630,841 (GRCm39) |
V300E |
probably damaging |
Het |
Lrp1b |
A |
T |
2: 40,615,919 (GRCm39) |
C3606S |
probably damaging |
Het |
Lrrc42 |
A |
G |
4: 107,104,917 (GRCm39) |
I16T |
probably damaging |
Het |
Myot |
T |
C |
18: 44,470,053 (GRCm39) |
F10S |
probably damaging |
Het |
Nrg3 |
A |
T |
14: 38,098,413 (GRCm39) |
H480Q |
probably damaging |
Het |
Or52b2 |
G |
A |
7: 104,986,129 (GRCm39) |
R265C |
probably benign |
Het |
Or5ac23 |
A |
T |
16: 59,149,783 (GRCm39) |
F30I |
probably damaging |
Het |
Prl2c5 |
A |
T |
13: 13,366,390 (GRCm39) |
D220V |
probably damaging |
Het |
Rbm17 |
G |
A |
2: 11,592,590 (GRCm39) |
S295L |
probably benign |
Het |
Serpina6 |
A |
G |
12: 103,613,172 (GRCm39) |
I376T |
probably damaging |
Het |
Sh2d2a |
A |
T |
3: 87,756,730 (GRCm39) |
T192S |
probably benign |
Het |
Slc27a1 |
T |
C |
8: 72,037,106 (GRCm39) |
Y417H |
possibly damaging |
Het |
Slc6a1 |
T |
G |
6: 114,281,813 (GRCm39) |
I32S |
possibly damaging |
Het |
Sntb1 |
T |
C |
15: 55,769,540 (GRCm39) |
T150A |
probably damaging |
Het |
Tanc1 |
T |
A |
2: 59,665,791 (GRCm39) |
C1183* |
probably null |
Het |
Tmprss7 |
C |
A |
16: 45,511,206 (GRCm39) |
W57C |
probably damaging |
Het |
Ubac1 |
A |
T |
2: 25,911,440 (GRCm39) |
V36E |
possibly damaging |
Het |
Zfc3h1 |
T |
C |
10: 115,242,630 (GRCm39) |
|
probably benign |
Het |
Zfp644 |
C |
T |
5: 106,784,771 (GRCm39) |
C592Y |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TAGAGCTGGTGGGATCACAGAGCTTG -3'
(R):5'- GCAAATGTAAAAGGCCCTCTCCTCTTC -3'
Sequencing Primer
(F):5'- ctgtctatctgtctgtctgcc -3'
(R):5'- CTTTCTGCCCATTTCAGTTGC -3'
|
Posted On |
2013-07-24 |