Incidental Mutation 'R6019:Mtus1'
ID |
478797 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mtus1
|
Ensembl Gene |
ENSMUSG00000045636 |
Gene Name |
mitochondrial tumor suppressor 1 |
Synonyms |
MTSG1, B430305I03Rik, MD44, Atip1 |
MMRRC Submission |
044193-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.241)
|
Stock # |
R6019 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
41443951-41586763 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 41536077 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 546
(N546K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112626
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059115]
[ENSMUST00000118835]
[ENSMUST00000145860]
[ENSMUST00000155055]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000059115
AA Change: N546K
PolyPhen 2
Score 0.333 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000059503 Gene: ENSMUSG00000045636 AA Change: N546K
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: ENSMUST00000118835
AA Change: N546K
PolyPhen 2
Score 0.333 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000112626 Gene: ENSMUSG00000045636 AA Change: N546K
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: ENSMUST00000143853
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000145860
AA Change: N546K
PolyPhen 2
Score 0.189 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000119440 Gene: ENSMUSG00000045636 AA Change: N546K
Domain | Start | End | E-Value | Type |
low complexity region
|
524 |
539 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000155055
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.2%
- 20x: 91.1%
|
Validation Efficiency |
96% (81/84) |
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: 83 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcf3 |
C |
T |
16: 20,371,201 (GRCm39) |
H436Y |
possibly damaging |
Het |
Acad10 |
A |
T |
5: 121,772,864 (GRCm39) |
H472Q |
possibly damaging |
Het |
Ano8 |
G |
A |
8: 71,935,024 (GRCm39) |
R393C |
probably damaging |
Het |
Arhgap18 |
T |
A |
10: 26,736,646 (GRCm39) |
V163E |
probably damaging |
Het |
AW209491 |
C |
T |
13: 14,812,365 (GRCm39) |
A406V |
probably benign |
Het |
Brix1 |
C |
T |
15: 10,476,675 (GRCm39) |
R267H |
probably benign |
Het |
Cacng5 |
T |
C |
11: 107,775,214 (GRCm39) |
M52V |
probably benign |
Het |
Casz1 |
T |
C |
4: 149,031,495 (GRCm39) |
C1249R |
probably damaging |
Het |
Cenpj |
C |
T |
14: 56,772,272 (GRCm39) |
S1086N |
probably benign |
Het |
Chi3l1 |
T |
C |
1: 134,117,310 (GRCm39) |
F367S |
probably benign |
Het |
Copg2 |
A |
T |
6: 30,787,868 (GRCm39) |
I610N |
possibly damaging |
Het |
Cpa6 |
T |
C |
1: 10,665,868 (GRCm39) |
K57E |
possibly damaging |
Het |
D5Ertd579e |
C |
T |
5: 36,787,036 (GRCm39) |
A111T |
possibly damaging |
Het |
Dgat2 |
A |
G |
7: 98,803,838 (GRCm39) |
M361T |
probably benign |
Het |
Dnm3 |
G |
T |
1: 161,962,070 (GRCm39) |
F46L |
probably damaging |
Het |
Dph7 |
T |
A |
2: 24,853,552 (GRCm39) |
C122* |
probably null |
Het |
Dspp |
A |
T |
5: 104,325,905 (GRCm39) |
D756V |
unknown |
Het |
Efcab3 |
T |
C |
11: 104,933,728 (GRCm39) |
|
probably null |
Het |
Ep300 |
T |
A |
15: 81,525,583 (GRCm39) |
M1469K |
unknown |
Het |
Fsip2 |
T |
C |
2: 82,818,283 (GRCm39) |
I4672T |
possibly damaging |
Het |
Gapdh |
A |
T |
6: 125,139,996 (GRCm39) |
L67* |
probably null |
Het |
Gpr75 |
A |
G |
11: 30,841,640 (GRCm39) |
R182G |
probably benign |
Het |
Gsr |
G |
T |
8: 34,183,835 (GRCm39) |
A366S |
probably damaging |
Het |
Gypc |
A |
G |
18: 32,663,248 (GRCm39) |
I33T |
probably damaging |
Het |
Hapln1 |
A |
G |
13: 89,756,219 (GRCm39) |
D341G |
probably benign |
Het |
Hnrnpd |
A |
G |
5: 100,115,095 (GRCm39) |
S148P |
probably benign |
Het |
Hydin |
A |
T |
8: 111,293,252 (GRCm39) |
T3450S |
probably benign |
Het |
Kif20b |
T |
C |
19: 34,927,864 (GRCm39) |
V1002A |
probably benign |
Het |
Kif5c |
T |
C |
2: 49,625,521 (GRCm39) |
V597A |
probably benign |
Het |
Kntc1 |
A |
G |
5: 123,900,579 (GRCm39) |
T226A |
probably benign |
Het |
Krt75 |
C |
A |
15: 101,482,158 (GRCm39) |
V37L |
probably benign |
Het |
L3mbtl2 |
A |
G |
15: 81,571,143 (GRCm39) |
I668V |
probably benign |
Het |
Lrp1b |
G |
A |
2: 41,192,982 (GRCm39) |
A480V |
probably damaging |
Het |
Lrp1b |
T |
A |
2: 41,366,821 (GRCm39) |
D485V |
probably damaging |
Het |
Lrrc37a |
T |
C |
11: 103,347,422 (GRCm39) |
H3091R |
unknown |
Het |
Msi1 |
A |
G |
5: 115,589,550 (GRCm39) |
Y361C |
probably damaging |
Het |
Mup17 |
T |
A |
4: 61,511,936 (GRCm39) |
T113S |
probably benign |
Het |
Myh11 |
T |
A |
16: 14,023,938 (GRCm39) |
D1479V |
probably damaging |
Het |
Ncor1 |
C |
T |
11: 62,263,987 (GRCm39) |
E198K |
probably benign |
Het |
Nrde2 |
A |
G |
12: 100,098,501 (GRCm39) |
V722A |
probably benign |
Het |
Or13a28 |
T |
C |
7: 140,217,925 (GRCm39) |
F104L |
probably benign |
Het |
Or51f23 |
C |
T |
7: 102,453,491 (GRCm39) |
R269* |
probably null |
Het |
Or5ac24 |
C |
T |
16: 59,165,798 (GRCm39) |
D89N |
possibly damaging |
Het |
Otog |
A |
G |
7: 45,938,374 (GRCm39) |
M2028V |
probably benign |
Het |
Paox |
T |
A |
7: 139,711,655 (GRCm39) |
V169E |
probably damaging |
Het |
Pcsk9 |
T |
G |
4: 106,314,073 (GRCm39) |
D174A |
probably benign |
Het |
Pde4b |
A |
G |
4: 102,427,966 (GRCm39) |
E41G |
possibly damaging |
Het |
Pip4k2c |
A |
G |
10: 127,034,943 (GRCm39) |
I419T |
probably damaging |
Het |
Plekhg3 |
G |
T |
12: 76,624,715 (GRCm39) |
E1186* |
probably null |
Het |
Pole |
C |
A |
5: 110,472,380 (GRCm39) |
P1548T |
probably benign |
Het |
Pole |
C |
T |
5: 110,472,381 (GRCm39) |
P1548L |
probably benign |
Het |
Polq |
A |
G |
16: 36,882,126 (GRCm39) |
E1430G |
probably damaging |
Het |
Potefam3c |
A |
T |
8: 69,881,966 (GRCm39) |
C337S |
probably benign |
Het |
Pramel47 |
G |
A |
5: 95,488,072 (GRCm39) |
S2N |
probably damaging |
Het |
Ptgr2 |
T |
C |
12: 84,344,920 (GRCm39) |
S98P |
probably damaging |
Het |
Ralgapa1 |
A |
G |
12: 55,730,827 (GRCm39) |
Y1903H |
possibly damaging |
Het |
Rasgrp1 |
T |
C |
2: 117,122,376 (GRCm39) |
D338G |
probably damaging |
Het |
Rif1 |
C |
G |
2: 51,985,856 (GRCm39) |
L614V |
probably damaging |
Het |
Rnase13 |
C |
T |
14: 52,159,860 (GRCm39) |
C93Y |
probably damaging |
Het |
Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
S100z |
T |
A |
13: 95,613,934 (GRCm39) |
M59L |
probably benign |
Het |
Ska1 |
T |
A |
18: 74,332,992 (GRCm39) |
D142V |
probably benign |
Het |
Slc16a3 |
T |
C |
11: 120,847,931 (GRCm39) |
|
probably null |
Het |
Snd1 |
T |
C |
6: 28,880,233 (GRCm39) |
V669A |
probably benign |
Het |
Snrpd3 |
A |
T |
10: 75,368,029 (GRCm39) |
T49S |
probably damaging |
Het |
Sort1 |
T |
C |
3: 108,264,549 (GRCm39) |
L856P |
possibly damaging |
Het |
Srek1ip1 |
T |
A |
13: 104,970,830 (GRCm39) |
|
probably null |
Het |
Ssrp1 |
T |
C |
2: 84,875,796 (GRCm39) |
S552P |
probably damaging |
Het |
Stab2 |
A |
G |
10: 86,838,886 (GRCm39) |
V60A |
probably benign |
Het |
Stard9 |
GCCC |
GCC |
2: 120,524,196 (GRCm39) |
|
probably null |
Het |
Tll1 |
A |
C |
8: 64,494,525 (GRCm39) |
H743Q |
possibly damaging |
Het |
Tpo |
G |
T |
12: 30,144,980 (GRCm39) |
R590S |
possibly damaging |
Het |
Trbv12-1 |
A |
T |
6: 41,090,780 (GRCm39) |
T51S |
probably benign |
Het |
Trbv30 |
C |
T |
6: 41,258,708 (GRCm39) |
A40V |
probably benign |
Het |
Tulp4 |
T |
A |
17: 6,283,490 (GRCm39) |
V1173E |
possibly damaging |
Het |
Upk1a |
A |
T |
7: 30,311,810 (GRCm39) |
|
probably null |
Het |
Vinac1 |
T |
C |
2: 128,879,610 (GRCm39) |
Q772R |
probably benign |
Het |
Vmn1r199 |
A |
G |
13: 22,566,769 (GRCm39) |
D21G |
possibly damaging |
Het |
Vmn2r7 |
T |
C |
3: 64,623,643 (GRCm39) |
T317A |
probably damaging |
Het |
Wdfy3 |
A |
G |
5: 101,997,289 (GRCm39) |
V3112A |
probably damaging |
Het |
Zbtb8os |
T |
C |
4: 129,234,542 (GRCm39) |
V40A |
possibly damaging |
Het |
Zfp1002 |
T |
A |
2: 150,097,132 (GRCm39) |
H99L |
probably damaging |
Het |
Zwint |
A |
G |
10: 72,492,685 (GRCm39) |
K108E |
possibly 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 |
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 |
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'- CTGATTCGATTTCGTGGCAG -3'
(R):5'- TGCACCAAACTTGAAAGGGG -3'
Sequencing Primer
(F):5'- CAGATGTTGTTCTTGGAACCCCG -3'
(R):5'- CCTAATTTGGGAAAATCAGCTACC -3'
|
Posted On |
2017-06-26 |