Incidental Mutation 'R7481:Mtus1'
ID |
579811 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mtus1
|
Ensembl Gene |
ENSMUSG00000045636 |
Gene Name |
mitochondrial tumor suppressor 1 |
Synonyms |
MTSG1, B430305I03Rik, MD44, Atip1 |
MMRRC Submission |
045555-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.241)
|
Stock # |
R7481 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
41443951-41586763 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 41537652 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Asparagine
at position 21
(K21N)
|
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: K21N
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000059503 Gene: ENSMUSG00000045636 AA Change: K21N
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: K21N
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000112626 Gene: ENSMUSG00000045636 AA Change: K21N
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: K21N
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000119440 Gene: ENSMUSG00000045636 AA Change: K21N
Domain | Start | End | E-Value | Type |
low complexity region
|
524 |
539 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000155055
AA Change: K21N
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
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: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4932414N04Rik |
T |
C |
2: 68,494,575 (GRCm39) |
F68S |
unknown |
Het |
Abcb6 |
A |
G |
1: 75,150,248 (GRCm39) |
F637L |
probably damaging |
Het |
Aldh3b3 |
A |
G |
19: 4,014,549 (GRCm39) |
M95V |
probably benign |
Het |
Arhgap45 |
A |
T |
10: 79,858,134 (GRCm39) |
H387L |
possibly damaging |
Het |
Avil |
C |
T |
10: 126,843,460 (GRCm39) |
T130I |
probably benign |
Het |
Bmal2 |
G |
A |
6: 146,720,369 (GRCm39) |
A178T |
not run |
Het |
C1ra |
G |
A |
6: 124,494,684 (GRCm39) |
E316K |
probably benign |
Het |
C3 |
C |
A |
17: 57,527,136 (GRCm39) |
W771L |
probably damaging |
Het |
C6 |
A |
G |
15: 4,844,357 (GRCm39) |
I926M |
|
Het |
Cacna1b |
G |
A |
2: 24,506,874 (GRCm39) |
L1903F |
probably damaging |
Het |
Car3 |
A |
T |
3: 14,928,632 (GRCm39) |
M1L |
probably benign |
Het |
Ccdc175 |
A |
G |
12: 72,202,398 (GRCm39) |
I299T |
probably benign |
Het |
Chd9 |
C |
T |
8: 91,683,066 (GRCm39) |
T502I |
unknown |
Het |
Clec4a1 |
G |
A |
6: 122,904,998 (GRCm39) |
C99Y |
probably damaging |
Het |
Col19a1 |
C |
T |
1: 24,356,788 (GRCm39) |
G632R |
probably damaging |
Het |
Dmbt1 |
A |
T |
7: 130,681,241 (GRCm39) |
|
probably null |
Het |
Dop1a |
A |
T |
9: 86,417,985 (GRCm39) |
K1951N |
probably damaging |
Het |
Dpf3 |
A |
C |
12: 83,378,701 (GRCm39) |
L122R |
probably damaging |
Het |
Edem3 |
A |
T |
1: 151,683,973 (GRCm39) |
S687C |
probably damaging |
Het |
Edem3 |
G |
A |
1: 151,683,974 (GRCm39) |
S687N |
possibly damaging |
Het |
Fig4 |
A |
G |
10: 41,106,001 (GRCm39) |
|
probably null |
Het |
Fmnl2 |
A |
G |
2: 52,998,443 (GRCm39) |
T603A |
unknown |
Het |
Frmd6 |
T |
A |
12: 70,933,829 (GRCm39) |
L249Q |
probably damaging |
Het |
Glrx3 |
T |
C |
7: 137,046,751 (GRCm39) |
C48R |
probably damaging |
Het |
Gm40460 |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 141,794,554 (GRCm39) |
|
probably benign |
Het |
Gm6133 |
A |
T |
18: 78,393,008 (GRCm39) |
M1L |
probably benign |
Het |
Gm9195 |
G |
A |
14: 72,720,116 (GRCm39) |
T105I |
probably benign |
Het |
Hk2 |
G |
A |
6: 82,737,150 (GRCm39) |
T54I |
probably benign |
Het |
Jade1 |
G |
A |
3: 41,559,125 (GRCm39) |
G402D |
probably benign |
Het |
Kmt2a |
T |
C |
9: 44,720,368 (GRCm39) |
D3873G |
unknown |
Het |
Map6 |
A |
T |
7: 98,918,345 (GRCm39) |
T373S |
possibly damaging |
Het |
Megf9 |
T |
C |
4: 70,351,679 (GRCm39) |
T481A |
probably damaging |
Het |
Mtcl3 |
G |
T |
10: 29,072,519 (GRCm39) |
V604L |
probably damaging |
Het |
Muc5b |
C |
T |
7: 141,414,908 (GRCm39) |
T2618I |
unknown |
Het |
Nbas |
A |
G |
12: 13,406,960 (GRCm39) |
I852M |
probably damaging |
Het |
Or14j1 |
T |
A |
17: 38,146,289 (GRCm39) |
M133K |
probably damaging |
Het |
Or4a70 |
C |
T |
2: 89,324,636 (GRCm39) |
V7I |
probably benign |
Het |
Or5b121 |
A |
T |
19: 13,507,817 (GRCm39) |
Q304L |
probably damaging |
Het |
Or5d39 |
A |
G |
2: 87,980,105 (GRCm39) |
I86T |
probably benign |
Het |
Pank4 |
A |
G |
4: 155,054,495 (GRCm39) |
N156S |
probably damaging |
Het |
Pcdhga8 |
A |
G |
18: 37,860,990 (GRCm39) |
E682G |
probably benign |
Het |
Pde10a |
C |
A |
17: 9,168,262 (GRCm39) |
D312E |
possibly damaging |
Het |
Pkhd1l1 |
A |
G |
15: 44,376,307 (GRCm39) |
T990A |
probably benign |
Het |
Rab11fip1 |
T |
C |
8: 27,646,609 (GRCm39) |
T156A |
probably damaging |
Het |
Rhbdd2 |
T |
A |
5: 135,665,031 (GRCm39) |
S121T |
possibly damaging |
Het |
Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,124 (GRCm39) |
|
probably benign |
Het |
Ryr3 |
C |
A |
2: 112,508,438 (GRCm39) |
R3418S |
probably benign |
Het |
Ryr3 |
C |
A |
2: 112,508,439 (GRCm39) |
R3418M |
possibly damaging |
Het |
Sbno2 |
G |
A |
10: 79,893,333 (GRCm39) |
P1323S |
probably benign |
Het |
Sec24d |
T |
C |
3: 123,144,412 (GRCm39) |
C630R |
probably damaging |
Het |
Selplg |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
5: 113,957,756 (GRCm39) |
|
probably benign |
Het |
Skp2 |
A |
T |
15: 9,113,905 (GRCm39) |
V371E |
probably damaging |
Het |
Strbp |
A |
T |
2: 37,490,766 (GRCm39) |
S496R |
probably benign |
Het |
Stxbp4 |
G |
A |
11: 90,485,639 (GRCm39) |
T236I |
possibly damaging |
Het |
Terf2 |
C |
T |
8: 107,799,353 (GRCm39) |
|
probably null |
Het |
Thnsl1 |
A |
T |
2: 21,216,599 (GRCm39) |
T118S |
probably benign |
Het |
Tlnrd1 |
A |
T |
7: 83,531,546 (GRCm39) |
V295E |
probably damaging |
Het |
Ttll6 |
A |
G |
11: 96,045,672 (GRCm39) |
T630A |
probably benign |
Het |
Usp9y |
G |
T |
Y: 1,432,180 (GRCm39) |
A435E |
probably benign |
Het |
Vil1 |
A |
C |
1: 74,459,058 (GRCm39) |
R187S |
probably damaging |
Het |
Vmn2r31 |
A |
T |
7: 7,387,579 (GRCm39) |
V664E |
possibly damaging |
Het |
Wdr17 |
T |
C |
8: 55,114,371 (GRCm39) |
I693M |
probably benign |
Het |
Wdr82 |
C |
T |
9: 106,053,865 (GRCm39) |
T72I |
probably damaging |
Het |
Zbtb5 |
A |
G |
4: 44,994,905 (GRCm39) |
S160P |
probably benign |
Het |
Zfat |
G |
A |
15: 68,050,715 (GRCm39) |
Q769* |
probably null |
Het |
Zfp764l1 |
C |
T |
7: 126,992,496 (GRCm39) |
C38Y |
probably null |
Het |
Zfp937 |
T |
A |
2: 150,081,266 (GRCm39) |
I432K |
probably benign |
Het |
Zglp1 |
C |
T |
9: 20,973,903 (GRCm39) |
S261N |
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 |
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 |
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'- CCCCATGAAATCACTTGAAGGC -3'
(R):5'- CAGACTACAGTTGTGGAAGCCG -3'
Sequencing Primer
(F):5'- CCATGAAATCACTTGAAGGCTCTGG -3'
(R):5'- TTGTGGAAGCCGGCTGAAAG -3'
|
Posted On |
2019-10-07 |