Incidental Mutation 'R7213:Mtus1'
| ID |
561214 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mtus1
|
| Ensembl Gene |
ENSMUSG00000045636 |
| Gene Name |
mitochondrial tumor suppressor 1 |
| Synonyms |
MTSG1, B430305I03Rik, MD44, Atip1 |
| MMRRC Submission |
045341-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.232)
|
| Stock # |
R7213 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
41443951-41586763 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 41537524 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 64
(D64G)
|
| 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 damaging
Transcript: ENSMUST00000059115
AA Change: D64G
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000059503
Gene: ENSMUSG00000045636
AA Change: D64G
| 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: ENSMUST00000118835
AA Change: D64G
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000112626
Gene: ENSMUSG00000045636
AA Change: D64G
| 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 damaging
Transcript: ENSMUST00000145860
AA Change: D64G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000119440
Gene: ENSMUSG00000045636
AA Change: D64G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
524 |
539 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155055
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
99% (80/81) |
| 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: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2010315B03Rik |
G |
T |
9: 124,056,530 (GRCm39) |
Y131* |
probably null |
Het |
| 2310009B15Rik |
A |
T |
1: 138,781,367 (GRCm39) |
V94D |
probably damaging |
Het |
| Actr1b |
T |
A |
1: 36,741,221 (GRCm39) |
N120I |
probably damaging |
Het |
| Adam17 |
A |
T |
12: 21,386,679 (GRCm39) |
Y452* |
probably null |
Het |
| Adam19 |
A |
T |
11: 46,012,298 (GRCm39) |
T265S |
probably benign |
Het |
| Adgrb1 |
A |
G |
15: 74,441,733 (GRCm39) |
T945A |
probably benign |
Het |
| Bpifa5 |
G |
A |
2: 154,007,903 (GRCm39) |
V182M |
possibly damaging |
Het |
| Celsr3 |
C |
T |
9: 108,726,239 (GRCm39) |
T3156I |
probably damaging |
Het |
| Cntrl |
A |
G |
2: 35,025,692 (GRCm39) |
M674V |
possibly damaging |
Het |
| Cry2 |
C |
T |
2: 92,244,004 (GRCm39) |
V390I |
probably benign |
Het |
| Cspg4b |
T |
A |
13: 113,454,475 (GRCm39) |
F174I |
|
Het |
| Cwc25 |
G |
T |
11: 97,644,855 (GRCm39) |
Q168K |
probably benign |
Het |
| Dcbld2 |
C |
T |
16: 58,271,126 (GRCm39) |
A301V |
probably benign |
Het |
| Dclre1a |
T |
C |
19: 56,518,067 (GRCm39) |
Y1004C |
probably damaging |
Het |
| Ddhd1 |
A |
C |
14: 45,895,210 (GRCm39) |
S87A |
probably benign |
Het |
| Ear1 |
A |
G |
14: 44,056,611 (GRCm39) |
C86R |
probably damaging |
Het |
| Epha5 |
T |
C |
5: 84,381,782 (GRCm39) |
|
probably null |
Het |
| Fat2 |
A |
T |
11: 55,171,871 (GRCm39) |
Y2947* |
probably null |
Het |
| Fat4 |
G |
A |
3: 39,053,236 (GRCm39) |
V4077M |
possibly damaging |
Het |
| Fbxl12 |
A |
T |
9: 20,550,304 (GRCm39) |
V140E |
probably damaging |
Het |
| Fbxo16 |
A |
G |
14: 65,536,868 (GRCm39) |
|
probably null |
Het |
| Fto |
A |
T |
8: 92,118,135 (GRCm39) |
Q29L |
probably benign |
Het |
| Gk5 |
C |
T |
9: 96,027,765 (GRCm39) |
T200M |
probably damaging |
Het |
| Gm5916 |
C |
T |
9: 36,039,946 (GRCm39) |
G14E |
possibly damaging |
Het |
| Gm9972 |
A |
T |
11: 42,927,235 (GRCm39) |
|
probably benign |
Het |
| Gpr139 |
T |
A |
7: 118,744,322 (GRCm39) |
M88L |
probably benign |
Het |
| Gpr26 |
T |
C |
7: 131,569,219 (GRCm39) |
L188P |
probably damaging |
Het |
| H2ac4 |
G |
T |
13: 23,935,146 (GRCm39) |
A11S |
unknown |
Het |
| Hbp1 |
A |
T |
12: 31,987,196 (GRCm39) |
S219T |
probably benign |
Het |
| Hr |
A |
T |
14: 70,795,790 (GRCm39) |
E445V |
probably damaging |
Het |
| Il12rb1 |
A |
G |
8: 71,269,097 (GRCm39) |
K426E |
probably benign |
Het |
| Itgbl1 |
G |
A |
14: 124,210,709 (GRCm39) |
C469Y |
probably damaging |
Het |
| Kdm2b |
A |
T |
5: 123,059,532 (GRCm39) |
N523K |
probably damaging |
Het |
| Kptn |
A |
G |
7: 15,854,704 (GRCm39) |
N125S |
possibly damaging |
Het |
| Krt17 |
T |
C |
11: 100,149,356 (GRCm39) |
N238S |
probably benign |
Het |
| Lemd3 |
G |
A |
10: 120,814,145 (GRCm39) |
R363* |
probably null |
Het |
| Mmrn1 |
G |
A |
6: 60,921,527 (GRCm39) |
|
probably benign |
Het |
| Muc16 |
A |
G |
9: 18,552,712 (GRCm39) |
V4527A |
probably benign |
Het |
| Naip2 |
T |
A |
13: 100,323,991 (GRCm39) |
D193V |
probably damaging |
Het |
| Nbeal1 |
G |
C |
1: 60,276,310 (GRCm39) |
V684L |
probably benign |
Het |
| Nf1 |
A |
G |
11: 79,360,645 (GRCm39) |
H1462R |
probably benign |
Het |
| Or2n1b |
T |
C |
17: 38,459,965 (GRCm39) |
V162A |
probably benign |
Het |
| Or5ak20 |
A |
T |
2: 85,183,900 (GRCm39) |
Y123* |
probably null |
Het |
| Pappa2 |
T |
A |
1: 158,764,456 (GRCm39) |
T352S |
possibly damaging |
Het |
| Pcnt |
A |
G |
10: 76,244,738 (GRCm39) |
L1114P |
probably damaging |
Het |
| Pde6b |
T |
C |
5: 108,551,956 (GRCm39) |
Y212H |
probably damaging |
Het |
| Pik3c2g |
A |
T |
6: 139,805,990 (GRCm39) |
I604F |
|
Het |
| Pld2 |
A |
G |
11: 70,444,198 (GRCm39) |
D498G |
probably benign |
Het |
| Prag1 |
A |
T |
8: 36,613,769 (GRCm39) |
Q1107L |
probably damaging |
Het |
| Pwp1 |
A |
T |
10: 85,712,173 (GRCm39) |
I110F |
probably benign |
Het |
| Rims4 |
C |
T |
2: 163,705,981 (GRCm39) |
V218I |
probably benign |
Het |
| Rnf10 |
C |
T |
5: 115,380,532 (GRCm39) |
S754N |
probably damaging |
Het |
| Rnf10 |
T |
C |
5: 115,380,533 (GRCm39) |
S754G |
probably damaging |
Het |
| Sel1l2 |
A |
T |
2: 140,086,055 (GRCm39) |
V512E |
probably damaging |
Het |
| Shank2 |
T |
A |
7: 143,585,146 (GRCm39) |
M49K |
probably benign |
Het |
| Sipa1 |
T |
C |
19: 5,710,551 (GRCm39) |
D153G |
probably damaging |
Het |
| Slc46a2 |
C |
T |
4: 59,914,279 (GRCm39) |
V215I |
possibly damaging |
Het |
| Slco6c1 |
G |
A |
1: 97,055,671 (GRCm39) |
L77F |
probably benign |
Het |
| Smarca2 |
T |
C |
19: 26,624,531 (GRCm39) |
L397P |
possibly damaging |
Het |
| Spg7 |
C |
T |
8: 123,816,971 (GRCm39) |
A554V |
probably damaging |
Het |
| Stab1 |
T |
A |
14: 30,865,630 (GRCm39) |
M1753L |
probably benign |
Het |
| Stk11 |
A |
G |
10: 79,952,452 (GRCm39) |
M1V |
probably null |
Het |
| Supt6 |
C |
A |
11: 78,122,976 (GRCm39) |
G136C |
probably damaging |
Het |
| Svil |
G |
T |
18: 5,094,574 (GRCm39) |
R1418L |
probably damaging |
Het |
| Tfg |
A |
G |
16: 56,521,516 (GRCm39) |
S167P |
probably benign |
Het |
| Timeless |
T |
C |
10: 128,079,158 (GRCm39) |
V335A |
probably benign |
Het |
| Tll2 |
C |
A |
19: 41,108,666 (GRCm39) |
R328L |
probably damaging |
Het |
| Tomm7 |
T |
C |
5: 24,049,059 (GRCm39) |
S5G |
possibly damaging |
Het |
| Ttc39c |
G |
A |
18: 12,820,138 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
C |
2: 76,556,105 (GRCm39) |
E30300G |
probably benign |
Het |
| Tuba4a |
A |
T |
1: 75,192,341 (GRCm39) |
D452E |
possibly damaging |
Het |
| Tubgcp2 |
T |
C |
7: 139,587,927 (GRCm39) |
I233V |
probably benign |
Het |
| Tubgcp5 |
T |
A |
7: 55,455,860 (GRCm39) |
V296E |
probably damaging |
Het |
| Vmn2r53 |
T |
C |
7: 12,334,983 (GRCm39) |
S226G |
probably benign |
Het |
| Xrcc6 |
T |
C |
15: 81,901,027 (GRCm39) |
|
probably benign |
Het |
| Zfhx4 |
C |
A |
3: 5,461,704 (GRCm39) |
D1192E |
probably benign |
Het |
| Zfp180 |
G |
T |
7: 23,803,938 (GRCm39) |
W119L |
possibly damaging |
Het |
| Zfp3 |
A |
G |
11: 70,663,351 (GRCm39) |
I437V |
probably benign |
Het |
| Zfp616 |
A |
T |
11: 73,976,689 (GRCm39) |
Q986L |
probably benign |
Het |
| Zfp937 |
T |
A |
2: 150,081,385 (GRCm39) |
C472S |
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 |
|
|
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 |
|
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'- ACAGTTACTGTGCAGGTCTTG -3'
(R):5'- TTGTGGAAGCCGGCTGAAAG -3'
Sequencing Primer
(F):5'- GCAGGTCTTGGGGCTTCC -3'
(R):5'- GAGGAGCTGGACCATTTTTCATTTAC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation