Mutagenetix > Incidental Mutation

Incidental Mutation 'R7117:Mtus1'

551854

Institutional Source

Beutler Lab

Gene Symbol

Mtus1

Ensembl Gene

ENSMUSG00000045636

Gene Name

mitochondrial tumor suppressor 1

Synonyms

MTSG1, B430305I03Rik, MD44, Atip1

MMRRC Submission

045208-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.232) question?

Stock #

R7117 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

41443951-41586763 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 41536621 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 365 (V365A)

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

possibly damaging
Transcript: ENSMUST00000059115
AA Change: V365A

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000059503
Gene: ENSMUSG00000045636
AA Change: V365A

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: ENSMUST00000118835
AA Change: V365A

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000112626
Gene: ENSMUSG00000045636
AA Change: V365A

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: V365A

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000119440
Gene: ENSMUSG00000045636
AA Change: V365A

Domain	Start	End	E-Value	Type
low complexity region	524	539	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000155055

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

97% (95/98)

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: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	T	C	5: 113,339,250 (GRCm39)	Y254C	probably benign	Het
4930480E11Rik	G	T	X: 77,414,311 (GRCm39)	M345I	probably benign	Het
Adam12	T	C	7: 133,518,191 (GRCm39)	I650V	probably benign	Het
Adam39	G	T	8: 41,279,279 (GRCm39)	G557C	probably damaging	Het
Ak5	A	G	3: 152,321,493 (GRCm39)		probably null	Het
Arhgef10l	C	T	4: 140,291,497 (GRCm39)		probably null	Het
Arhgef37	C	T	18: 61,637,481 (GRCm39)	E394K	probably benign	Het
Baz2b	A	G	2: 59,742,841 (GRCm39)	V13A		Het
Bnc1	G	T	7: 81,623,109 (GRCm39)	A706E	possibly damaging	Het
Bscl2	G	A	19: 8,825,878 (GRCm39)	A421T	possibly damaging	Het
Btn1a1	A	C	13: 23,643,415 (GRCm39)	W345G	possibly damaging	Het
C3	A	T	17: 57,519,655 (GRCm39)	M1199K	probably benign	Het
Ccdc18	T	G	5: 108,296,835 (GRCm39)	L213V	possibly damaging	Het
Cers2	T	C	3: 95,228,072 (GRCm39)		probably null	Het
Chpt1	T	A	10: 88,316,711 (GRCm39)	H249L	probably damaging	Het
Cited2	A	G	10: 17,600,364 (GRCm39)	E224G	possibly damaging	Het
Cntn5	T	A	9: 10,904,704 (GRCm39)		probably benign	Het
Col28a1	A	G	6: 8,013,122 (GRCm39)	S977P	possibly damaging	Het
Col6a1	T	C	10: 76,560,843 (GRCm39)	K52E	probably damaging	Het
Cpne2	T	A	8: 95,282,172 (GRCm39)	H239Q	probably damaging	Het
Cr2	A	T	1: 194,842,909 (GRCm39)	N244K	possibly damaging	Het
Csf2rb2	T	C	15: 78,169,385 (GRCm39)	D590G	probably damaging	Het
Defb25	A	C	2: 152,464,380 (GRCm39)	C55G	probably damaging	Het
Dnah7b	A	T	1: 46,391,973 (GRCm39)		probably null	Het
Dvl3	T	A	16: 20,346,072 (GRCm39)	Y467*	probably null	Het
Elapor2	T	A	5: 9,495,384 (GRCm39)	C729*	probably null	Het
Extl2	T	C	3: 115,821,088 (GRCm39)	S312P	probably damaging	Het
Fam178b	T	C	1: 36,639,548 (GRCm39)	T313A	probably benign	Het
Fam186b	A	G	15: 99,183,471 (GRCm39)	Y58H	probably damaging	Het
Fat1	A	T	8: 45,484,505 (GRCm39)	I3248L	probably damaging	Het
Fat2	A	G	11: 55,172,088 (GRCm39)	F2875S	probably damaging	Het
Flnb	T	A	14: 7,894,214 (GRCm38)	N760K	probably benign	Het
Galnt14	T	C	17: 73,801,190 (GRCm39)	H544R	probably benign	Het
Gpr137c	A	C	14: 45,516,484 (GRCm39)	R357S	probably damaging	Het
Grk2	A	G	19: 4,340,630 (GRCm39)		probably null	Het
Hectd2	A	T	19: 36,577,055 (GRCm39)	T342S	probably benign	Het
Hjv	G	T	3: 96,435,542 (GRCm39)	V267L	possibly damaging	Het
Ildr2	G	T	1: 166,123,380 (GRCm39)	G270C	probably damaging	Het
Insm2	C	A	12: 55,647,357 (GRCm39)	A367D	probably damaging	Het
Kcnh5	T	A	12: 75,161,219 (GRCm39)	I230F	possibly damaging	Het
Keg1	T	A	19: 12,687,042 (GRCm39)	S24T	probably damaging	Het
Kera	A	T	10: 97,448,714 (GRCm39)	E311D	probably benign	Het
Kit	T	A	5: 75,767,758 (GRCm39)	I47K	probably benign	Het
Megf6	A	G	4: 154,343,379 (GRCm39)	T663A	possibly damaging	Het
Mettl21c	G	A	1: 44,049,808 (GRCm39)	A79V	probably damaging	Het
Mfsd1	T	A	3: 67,507,391 (GRCm39)		probably null	Het
Mob3b	A	G	4: 34,985,914 (GRCm39)		probably null	Het
Morc2b	T	A	17: 33,356,926 (GRCm39)	H282L	probably benign	Het
Mtpap	T	C	18: 4,380,889 (GRCm39)		probably null	Het
Muc5ac	T	A	7: 141,367,559 (GRCm39)	Y2993*	probably null	Het
Mycbp2	A	C	14: 103,391,513 (GRCm39)	F3422V	probably benign	Het
Ndufb7	T	A	8: 84,297,490 (GRCm39)	D48E	probably benign	Het
Nxpe5	A	G	5: 138,237,704 (GRCm39)	Y88C	probably damaging	Het
Or51a6	T	A	7: 102,604,185 (GRCm39)	M208L	probably benign	Het
Or5d3	A	G	2: 88,174,905 (GRCm39)	L64P	probably damaging	Het
Osbpl5	T	A	7: 143,263,520 (GRCm39)	D121V	probably benign	Het
Oxnad1	A	T	14: 31,813,608 (GRCm39)	H3L	probably benign	Het
Pam	C	A	1: 97,904,841 (GRCm39)		probably benign	Het
Papolg	T	C	11: 23,845,207 (GRCm39)		probably benign	Het
Pax1	G	A	2: 147,208,190 (GRCm39)	G266D	probably damaging	Het
Pde11a	A	T	2: 75,906,348 (GRCm39)	M623K	probably damaging	Het
Peg3	GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC	GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC	7: 6,712,167 (GRCm39)		probably benign	Het
Phf21a	A	T	2: 92,189,502 (GRCm39)	Q587L	probably benign	Het
Plcb3	A	G	19: 6,941,746 (GRCm39)	L336P	probably damaging	Het
Pnp2	T	C	14: 51,201,931 (GRCm39)	*306Q	probably null	Het
Pou5f2	A	G	13: 78,173,392 (GRCm39)	I111M	probably benign	Het
Pramel32	T	A	4: 88,547,195 (GRCm39)	M246L	probably damaging	Het
Prmt3	G	T	7: 49,467,843 (GRCm39)	A350S	probably benign	Het
Rac3	A	T	11: 120,614,343 (GRCm39)	R163*	probably null	Het
Raly	G	T	2: 154,699,432 (GRCm39)	V79L	probably benign	Het
Rbm20	A	T	19: 53,839,989 (GRCm39)	T993S	possibly damaging	Het
Rwdd3	A	G	3: 120,964,987 (GRCm39)	L56P	probably benign	Het
Serpina3a	C	T	12: 104,082,436 (GRCm39)	H70Y	possibly damaging	Het
Sez6l2	A	C	7: 126,552,915 (GRCm39)	E227A	possibly damaging	Het
Shank1	C	T	7: 43,976,585 (GRCm39)	A561V	unknown	Het
Sidt2	C	T	9: 45,864,517 (GRCm39)	V71I	probably benign	Het
Slc35f6	T	C	5: 30,815,051 (GRCm39)	L326P	probably damaging	Het
Sox2	G	A	3: 34,705,075 (GRCm39)	G171S	possibly damaging	Het
Spef2	G	A	15: 9,729,924 (GRCm39)	R65C	probably damaging	Het
Spmap2	A	T	10: 79,420,741 (GRCm39)		probably null	Het
Stip1	C	T	19: 6,999,178 (GRCm39)	G467S	possibly damaging	Het
Tada2a	T	A	11: 83,976,514 (GRCm39)	I327F	probably damaging	Het
Tex2	A	G	11: 106,435,071 (GRCm39)	V785A	unknown	Het
Thada	C	A	17: 84,538,214 (GRCm39)		probably null	Het
Tmed1	G	A	9: 21,420,550 (GRCm39)	T94M	possibly damaging	Het
Tsr1	G	T	11: 74,790,360 (GRCm39)	M149I	probably benign	Het
Ttc8	T	C	12: 98,942,761 (GRCm39)	Y434H	possibly damaging	Het
Ttn	A	G	2: 76,578,519 (GRCm39)	Y24125H	probably damaging	Het
Ttn	G	T	2: 76,552,253 (GRCm39)		probably null	Het
Ttn	A	G	2: 76,773,235 (GRCm39)	I2435T	unknown	Het
Uggt2	T	C	14: 119,251,938 (GRCm39)	I1174M	probably benign	Het
Unc13b	T	C	4: 43,216,544 (GRCm39)	I281T	probably benign	Het
Usp1	G	T	4: 98,817,127 (GRCm39)	K106N	possibly damaging	Het
Vwa3b	A	G	1: 37,174,634 (GRCm39)	D15G		Het
Zfp28	G	A	7: 6,397,461 (GRCm39)	C632Y	probably damaging	Het
Zfp68	T	C	5: 138,604,580 (GRCm39)	D581G	probably benign	Het
Zmynd10	A	C	9: 107,424,716 (GRCm39)	S21R	probably benign	Het
Zswim4	C	T	8: 84,940,681 (GRCm39)	R806H	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
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'- CTTCACTTCAGCAGGTTCAAGTC -3'
(R):5'- TCTGAAGATGACCCAAACAGTG -3'

Sequencing Primer
(F):5'- CACTTCAGCAGGTTCAAGTCTGAAG -3'
(R):5'- GTGAGACACATTCACACGGC -3'

Posted On

2019-05-15