Incidental Mutation 'R6488:Mtus1'
ID |
522524 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mtus1
|
Ensembl Gene |
ENSMUSG00000045636 |
Gene Name |
mitochondrial tumor suppressor 1 |
Synonyms |
MTSG1, B430305I03Rik, MD44, Atip1 |
MMRRC Submission |
044620-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.241)
|
Stock # |
R6488 (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 A
at 41494545 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Leucine
at position 29
(S29L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000053554
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051379]
[ENSMUST00000059115]
[ENSMUST00000093534]
[ENSMUST00000118835]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000051379
AA Change: S29L
PolyPhen 2
Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000053554 Gene: ENSMUSG00000045636 AA Change: S29L
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
|
SMART Domains |
Protein: ENSMUSP00000059503 Gene: ENSMUSG00000045636
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
|
SMART Domains |
Protein: ENSMUSP00000091252 Gene: ENSMUSG00000045636
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: ENSMUST00000118835
|
SMART Domains |
Protein: ENSMUSP00000112626 Gene: ENSMUSG00000045636
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: ENSMUST00000142936
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148357
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155174
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.7%
|
Validation Efficiency |
96% (65/68) |
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: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610021A01Rik |
C |
T |
7: 41,275,298 (GRCm39) |
Q334* |
probably null |
Het |
Abhd15 |
T |
C |
11: 77,406,848 (GRCm39) |
F275S |
possibly damaging |
Het |
Adamts7 |
A |
G |
9: 90,053,535 (GRCm39) |
T27A |
probably benign |
Het |
Ankar |
A |
G |
1: 72,720,967 (GRCm39) |
|
probably null |
Het |
Ap2a2 |
T |
C |
7: 141,182,220 (GRCm39) |
V183A |
probably benign |
Het |
Arhgef37 |
G |
A |
18: 61,651,123 (GRCm39) |
A134V |
probably benign |
Het |
Col3a1 |
C |
A |
1: 45,370,694 (GRCm39) |
|
probably benign |
Het |
Cplx3 |
A |
G |
9: 57,527,926 (GRCm39) |
S10P |
possibly damaging |
Het |
Cxcr5 |
A |
G |
9: 44,425,276 (GRCm39) |
V127A |
probably damaging |
Het |
Eif4b |
T |
A |
15: 102,001,422 (GRCm39) |
|
probably benign |
Het |
Ext2 |
A |
G |
2: 93,636,430 (GRCm39) |
V228A |
probably damaging |
Het |
Fam83h |
T |
C |
15: 75,873,902 (GRCm39) |
E1145G |
possibly damaging |
Het |
Fcgbp |
A |
G |
7: 27,792,963 (GRCm39) |
D989G |
probably damaging |
Het |
Fchsd1 |
T |
C |
18: 38,100,321 (GRCm39) |
|
probably null |
Het |
Fcnb |
T |
C |
2: 27,968,301 (GRCm39) |
K219E |
probably damaging |
Het |
Fndc7 |
T |
C |
3: 108,777,891 (GRCm39) |
E355G |
probably damaging |
Het |
Glis3 |
T |
C |
19: 28,276,253 (GRCm39) |
H746R |
probably benign |
Het |
Glod4 |
A |
G |
11: 76,128,611 (GRCm39) |
V74A |
probably damaging |
Het |
Gpc6 |
T |
C |
14: 118,202,125 (GRCm39) |
I445T |
possibly damaging |
Het |
Hdlbp |
T |
C |
1: 93,355,946 (GRCm39) |
D337G |
probably damaging |
Het |
Hnf1a |
T |
C |
5: 115,094,020 (GRCm39) |
T190A |
probably benign |
Het |
Iqgap1 |
G |
C |
7: 80,380,074 (GRCm39) |
T1129R |
probably benign |
Het |
Kcnc3 |
T |
C |
7: 44,244,606 (GRCm39) |
F299L |
possibly damaging |
Het |
Kif26b |
T |
C |
1: 178,357,138 (GRCm39) |
V4A |
unknown |
Het |
Kifbp |
C |
A |
10: 62,395,437 (GRCm39) |
|
probably null |
Het |
Klra9 |
G |
T |
6: 130,155,995 (GRCm39) |
Y253* |
probably null |
Het |
Krtap4-1 |
G |
T |
11: 99,518,903 (GRCm39) |
R36S |
unknown |
Het |
Lrpprc |
T |
C |
17: 85,058,781 (GRCm39) |
N693S |
probably damaging |
Het |
Lrrc49 |
A |
T |
9: 60,509,916 (GRCm39) |
F157L |
probably damaging |
Het |
Mettl22 |
T |
C |
16: 8,305,225 (GRCm39) |
F293L |
probably damaging |
Het |
Mga |
T |
A |
2: 119,791,388 (GRCm39) |
N2424K |
probably damaging |
Het |
Mgat4f |
T |
A |
1: 134,318,626 (GRCm39) |
V466D |
probably damaging |
Het |
Mpdz |
G |
T |
4: 81,205,970 (GRCm39) |
A1784E |
probably benign |
Het |
Mpv17l |
G |
A |
16: 13,764,452 (GRCm39) |
|
probably null |
Het |
Myo15a |
A |
T |
11: 60,369,313 (GRCm39) |
H691L |
possibly damaging |
Het |
Nbea |
T |
C |
3: 55,625,264 (GRCm39) |
T2276A |
probably damaging |
Het |
Npas4 |
A |
G |
19: 5,036,011 (GRCm39) |
S718P |
probably damaging |
Het |
Ntrk2 |
T |
A |
13: 59,009,170 (GRCm39) |
N320K |
possibly damaging |
Het |
Nup214 |
T |
A |
2: 31,881,384 (GRCm39) |
I414N |
possibly damaging |
Het |
Oas2 |
A |
G |
5: 120,876,428 (GRCm39) |
F15S |
probably damaging |
Het |
Or52z15 |
T |
C |
7: 103,332,285 (GRCm39) |
I110T |
probably damaging |
Het |
Or5b118 |
T |
C |
19: 13,448,981 (GRCm39) |
Y216H |
probably damaging |
Het |
Pabpc6 |
A |
G |
17: 9,888,528 (GRCm39) |
Y8H |
probably damaging |
Het |
Pbx1 |
T |
A |
1: 168,018,964 (GRCm39) |
N294Y |
probably damaging |
Het |
Pcyt1a |
T |
C |
16: 32,285,899 (GRCm39) |
M190T |
probably damaging |
Het |
Pogk |
T |
C |
1: 166,226,991 (GRCm39) |
I387V |
possibly damaging |
Het |
Ppp6r2 |
T |
C |
15: 89,152,741 (GRCm39) |
L294P |
probably benign |
Het |
Pramel51 |
T |
C |
12: 88,144,357 (GRCm39) |
H152R |
possibly damaging |
Het |
Ptprn2 |
T |
A |
12: 116,835,658 (GRCm39) |
I331K |
probably benign |
Het |
Ptpro |
T |
G |
6: 137,370,673 (GRCm39) |
Y591* |
probably null |
Het |
Ptprz1 |
T |
A |
6: 23,001,516 (GRCm39) |
L1202* |
probably null |
Het |
Rab37 |
A |
G |
11: 115,048,789 (GRCm39) |
T73A |
probably benign |
Het |
Rad51ap2 |
T |
G |
12: 11,508,161 (GRCm39) |
S694R |
possibly damaging |
Het |
Rb1cc1 |
T |
A |
1: 6,340,951 (GRCm39) |
D148E |
probably damaging |
Het |
Rraga |
G |
A |
4: 86,494,565 (GRCm39) |
R137H |
probably damaging |
Het |
Serpinf2 |
A |
G |
11: 75,328,329 (GRCm39) |
V73A |
probably benign |
Het |
Siglec1 |
T |
C |
2: 130,923,227 (GRCm39) |
N506S |
probably damaging |
Het |
Slc35e4 |
T |
C |
11: 3,862,602 (GRCm39) |
T196A |
possibly damaging |
Het |
St6galnac3 |
C |
T |
3: 153,117,394 (GRCm39) |
A110T |
probably damaging |
Het |
Thsd1 |
T |
C |
8: 22,733,733 (GRCm39) |
V260A |
probably benign |
Het |
Tpbg |
T |
A |
9: 85,726,538 (GRCm39) |
V169D |
possibly damaging |
Het |
Trav16n |
A |
G |
14: 53,589,042 (GRCm39) |
E106G |
probably benign |
Het |
Vmn1r219 |
T |
C |
13: 23,347,135 (GRCm39) |
I108T |
probably benign |
Het |
Vmn2r50 |
T |
C |
7: 9,771,644 (GRCm39) |
I686V |
probably damaging |
Het |
Zdhhc20 |
C |
T |
14: 58,078,289 (GRCm39) |
R329K |
probably benign |
Het |
Zfp64 |
A |
G |
2: 168,777,129 (GRCm39) |
|
probably null |
Het |
Zfp941 |
C |
T |
7: 140,392,663 (GRCm39) |
R232H |
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 |
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 |
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'- CAGTCAAGCCTCTCCTTAAAGAG -3'
(R):5'- GCCTGGCATTAGCATGTAAGC -3'
Sequencing Primer
(F):5'- CTCTCCTTAAAGAGGGCTTTAGTGC -3'
(R):5'- ATCTCTTGGCCTGGAAGAAC -3'
|
Posted On |
2018-06-06 |