Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02381:Mtus1'

291386

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mtus1

Ensembl Gene

ENSMUSG00000045636

Gene Name

mitochondrial tumor suppressor 1

Synonyms

MTSG1, B430305I03Rik, MD44, Atip1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.241) question?

Stock #

IGL02381

Quality Score

Status

Chromosome

Chromosomal Location

41443951-41586763 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 41536156 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 520 (M520K)

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: M520K

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000059503
Gene: ENSMUSG00000045636
AA Change: M520K

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: M520K

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000112626
Gene: ENSMUSG00000045636
AA Change: M520K

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: M520K

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000119440
Gene: ENSMUSG00000045636
AA Change: M520K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000155055

Coding Region Coverage

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	T	A	12: 118,904,413 (GRCm39)	I126F	probably damaging	Het
Antxrl	T	G	14: 33,778,568 (GRCm39)		probably null	Het
Arsa	A	T	15: 89,359,740 (GRCm39)	Y62*	probably null	Het
Atg2b	C	A	12: 105,614,607 (GRCm39)	C1108F	probably damaging	Het
Atp8a1	T	C	5: 67,863,338 (GRCm39)	Q651R	probably benign	Het
Atxn7l2	A	G	3: 108,111,811 (GRCm39)		probably benign	Het
Cacna1f	A	G	X: 7,482,307 (GRCm39)	D597G	probably damaging	Het
Capn12	T	C	7: 28,585,880 (GRCm39)		probably benign	Het
Ctnna2	A	T	6: 76,931,766 (GRCm39)	D624E	probably benign	Het
Dnah2	T	C	11: 69,337,118 (GRCm39)	E3274G	probably benign	Het
Dnah7b	A	T	1: 46,316,280 (GRCm39)	N3131I	probably damaging	Het
Fam3a	C	T	X: 73,430,690 (GRCm39)	G112E	probably damaging	Het
Focad	T	G	4: 88,192,327 (GRCm39)		probably benign	Het
Fyb2	G	A	4: 104,805,863 (GRCm39)		probably benign	Het
Htt	C	T	5: 34,987,104 (GRCm39)	P1108S	probably benign	Het
Ift80	A	T	3: 68,869,653 (GRCm39)		probably null	Het
Insc	T	C	7: 114,449,177 (GRCm39)	*533Q	probably null	Het
Itga2	A	G	13: 114,993,258 (GRCm39)	C786R	probably damaging	Het
Lman2	A	G	13: 55,499,282 (GRCm39)	W198R	possibly damaging	Het
Med23	A	G	10: 24,776,626 (GRCm39)	T713A	possibly damaging	Het
Mvd	C	A	8: 123,163,894 (GRCm39)	G252V	probably benign	Het
Ncoa3	T	A	2: 165,894,737 (GRCm39)	V340E	probably damaging	Het
Necab1	A	G	4: 15,148,812 (GRCm39)		probably null	Het
Noxred1	T	C	12: 87,271,776 (GRCm39)	D131G	probably damaging	Het
P2ry4	C	A	X: 99,637,807 (GRCm39)	K30N	probably damaging	Het
Pcdhac2	T	A	18: 37,277,320 (GRCm39)	V100D	possibly damaging	Het
Piezo1	C	A	8: 123,225,283 (GRCm39)	R571L	probably benign	Het
Pkd1l2	C	T	8: 117,762,539 (GRCm39)		probably benign	Het
Plekhm2	T	C	4: 141,370,034 (GRCm39)	T32A	possibly damaging	Het
Rev3l	T	C	10: 39,697,342 (GRCm39)	V613A	possibly damaging	Het
Rp1	A	G	1: 4,422,613 (GRCm39)	S156P	probably benign	Het
Sema3f	A	T	9: 107,569,594 (GRCm39)	D48E	probably damaging	Het
Shisal1	A	G	15: 84,290,654 (GRCm39)	S218P	probably damaging	Het
Slc29a4	T	C	5: 142,705,854 (GRCm39)	V446A	probably benign	Het
Sppl3	C	T	5: 115,212,969 (GRCm39)		probably null	Het
Ttn	T	C	2: 76,599,982 (GRCm39)	E19064G	probably damaging	Het
Vps35l	A	G	7: 118,374,598 (GRCm39)	Y342C	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
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
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

Posted On

2015-04-16