Mutagenetix > Incidental Mutation

Incidental Mutation 'R5133:Mtus1'

395936

Institutional Source

Beutler Lab

Gene Symbol

Mtus1

Ensembl Gene

ENSMUSG00000045636

Gene Name

mitochondrial tumor suppressor 1

Synonyms

MTSG1, B430305I03Rik, MD44, Atip1

MMRRC Submission

042721-MU

Accession Numbers

Essential gene?

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

Stock #

R5133 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

41443951-41586763 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 41536229 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 496 (T496A)

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: T496A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000059503
Gene: ENSMUSG00000045636
AA Change: T496A

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: T496A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000112626
Gene: ENSMUSG00000045636
AA Change: T496A

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: T496A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000119440
Gene: ENSMUSG00000045636
AA Change: T496A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000155055

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 96.9%
20x: 94.0%

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: 101 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A3galt2	A	T	4: 128,655,934 (GRCm39)	T101S	probably damaging	Het
Abraxas2	C	T	7: 132,484,875 (GRCm39)	A306V	probably benign	Het
Acvr1c	T	A	2: 58,173,518 (GRCm39)	N248I	probably damaging	Het
Adgrv1	C	T	13: 81,587,560 (GRCm39)	R4537Q	probably damaging	Het
Adrb3	A	C	8: 27,717,798 (GRCm39)	M217R	probably damaging	Het
Afg3l1	T	C	8: 124,216,532 (GRCm39)	V257A	probably benign	Het
Agbl1	C	A	7: 76,071,904 (GRCm39)	Q334K	probably benign	Het
Aox4	A	T	1: 58,275,835 (GRCm39)	D389V	probably benign	Het
Apob	A	T	12: 8,058,898 (GRCm39)	Q2427L	probably damaging	Het
Asxl3	T	C	18: 22,649,765 (GRCm39)	C585R	probably damaging	Het
Baz2a	G	A	10: 127,951,995 (GRCm39)	G571D	probably damaging	Het
Baz2b	A	T	2: 59,792,368 (GRCm39)	S587T	probably benign	Het
Bicdl2	T	C	17: 23,880,795 (GRCm39)	L14P	unknown	Het
Cachd1	G	A	4: 100,851,935 (GRCm39)	S1177N	probably damaging	Het
Cacna2d3	A	G	14: 29,015,135 (GRCm39)	F86L	possibly damaging	Het
Ccdc192	C	T	18: 57,697,041 (GRCm39)	T65I	possibly damaging	Het
Cd3d	A	T	9: 44,896,296 (GRCm39)	E28D	probably damaging	Het
Cmya5	T	C	13: 93,229,880 (GRCm39)	K1736R	possibly damaging	Het
Col12a1	A	G	9: 79,512,456 (GRCm39)	V2913A	probably damaging	Het
Cops8	A	G	1: 90,538,724 (GRCm39)	D51G	probably damaging	Het
Csgalnact1	T	C	8: 68,913,623 (GRCm39)	E194G	probably benign	Het
Csn1s1	A	G	5: 87,828,737 (GRCm39)	D267G	possibly damaging	Het
Cyp2c40	T	C	19: 39,795,663 (GRCm39)	N172S	probably benign	Het
Dhtkd1	T	A	2: 5,908,813 (GRCm39)	K760N	probably damaging	Het
Dnah17	T	C	11: 118,007,939 (GRCm39)	K691E	probably benign	Het
Dppa4	G	A	16: 48,113,334 (GRCm39)	R189Q	probably benign	Het
Dsp	G	A	13: 38,381,678 (GRCm39)	D2808N	possibly damaging	Het
Egr2	A	G	10: 67,375,605 (GRCm39)	E17G	probably damaging	Het
Ehmt1	G	T	2: 24,767,509 (GRCm39)	P135T	probably damaging	Het
Epas1	A	G	17: 87,116,882 (GRCm39)	N184S	probably damaging	Het
Ezh2	C	T	6: 47,517,684 (GRCm39)	C584Y	probably damaging	Het
F10	T	C	8: 13,105,698 (GRCm39)	V421A	probably damaging	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fam186a	T	G	15: 99,853,374 (GRCm39)	D122A	unknown	Het
Fam227b	G	A	2: 125,958,043 (GRCm39)	P241S	probably damaging	Het
Fam234b	T	C	6: 135,186,193 (GRCm39)	V67A	probably benign	Het
Fbn2	T	C	18: 58,172,412 (GRCm39)	D2131G	probably damaging	Het
Fgfr4	T	C	13: 55,307,828 (GRCm39)	Y271H	probably damaging	Het
Gnmt	A	T	17: 47,036,860 (GRCm39)	S250T	probably benign	Het
Golgb1	C	A	16: 36,711,819 (GRCm39)	Q208K	possibly damaging	Het
Grn	C	A	11: 102,321,380 (GRCm39)		probably benign	Het
Grwd1	T	C	7: 45,475,298 (GRCm39)	T415A	probably benign	Het
Gsk3b	G	A	16: 38,060,882 (GRCm39)	R418H	probably damaging	Het
Hap1	T	G	11: 100,242,357 (GRCm39)	M382L	probably benign	Het
Hspa12b	A	G	2: 130,981,428 (GRCm39)	E221G	possibly damaging	Het
Hspa4l	T	A	3: 40,741,179 (GRCm39)	D709E	possibly damaging	Het
Il17ra	A	G	6: 120,458,514 (GRCm39)	E555G	possibly damaging	Het
Il27ra	T	C	8: 84,760,688 (GRCm39)	T426A	possibly damaging	Het
Jup	T	C	11: 100,273,941 (GRCm39)	D200G	probably benign	Het
Kcnq1	T	C	7: 142,748,083 (GRCm39)		probably null	Het
Kctd9	C	T	14: 67,966,805 (GRCm39)	T106I	probably damaging	Het
Kmt5b	T	A	19: 3,852,240 (GRCm39)	H159Q	probably damaging	Het
Kprp	C	T	3: 92,731,829 (GRCm39)	R407Q	unknown	Het
Kras	T	C	6: 145,177,879 (GRCm39)	Q131R	probably benign	Het
Krt16	T	A	11: 100,138,457 (GRCm39)	R230S	probably damaging	Het
Lpar6	G	A	14: 73,476,147 (GRCm39)	C36Y	probably damaging	Het
Lrp10	T	C	14: 54,707,067 (GRCm39)	S635P	probably benign	Het
Mapre2	C	A	18: 23,991,190 (GRCm39)	H153N	possibly damaging	Het
Mark3	C	A	12: 111,621,762 (GRCm39)	R703S	probably damaging	Het
Mboat2	A	G	12: 25,009,065 (GRCm39)	D457G	probably benign	Het
Med13	T	C	11: 86,210,675 (GRCm39)	D489G	probably benign	Het
Msh2	C	A	17: 88,030,841 (GRCm39)	A906E	probably benign	Het
Nckap5	T	C	1: 125,961,697 (GRCm39)	H204R	probably benign	Het
Nlrc4	G	T	17: 74,753,712 (GRCm39)	P224T	possibly damaging	Het
Oprl1	T	A	2: 181,360,403 (GRCm39)	I153N	probably damaging	Het
Or13a27	A	T	7: 139,925,236 (GRCm39)	I222N	probably damaging	Het
Or4c116	A	T	2: 88,942,140 (GRCm39)		probably null	Het
Or5an1	T	C	19: 12,260,670 (GRCm39)	L86P	possibly damaging	Het
Or5b121	T	A	19: 13,507,442 (GRCm39)	M135K	probably damaging	Het
Otud4	G	A	8: 80,382,318 (GRCm39)	V176I	probably damaging	Het
Pcdhb5	T	C	18: 37,453,943 (GRCm39)	F108L	probably benign	Het
Pde8b	T	C	13: 95,223,250 (GRCm39)	I335V	probably benign	Het
Pdzd7	T	A	19: 45,016,868 (GRCm39)	I886L	possibly damaging	Het
Prune2	C	T	19: 16,980,995 (GRCm39)	P51S	probably damaging	Het
Ptpre	C	T	7: 135,270,861 (GRCm39)	H346Y	probably benign	Het
Pwwp3a	T	C	10: 80,068,702 (GRCm39)	L282P	probably benign	Het
Rab27b	T	C	18: 70,122,659 (GRCm39)	D100G	probably damaging	Het
Rpf1	A	G	3: 146,212,293 (GRCm39)	L349S	probably damaging	Het
Samd14	T	C	11: 94,912,409 (GRCm39)	S233P	probably damaging	Het
Sema6a	C	A	18: 47,433,195 (GRCm39)	V79F	probably damaging	Het
Setbp1	A	G	18: 78,900,697 (GRCm39)	I990T	probably damaging	Het
Setx	A	G	2: 29,070,093 (GRCm39)	R2633G	probably benign	Het
Siae	T	G	9: 37,557,816 (GRCm39)	I541S	possibly damaging	Het
Slc13a1	A	G	6: 24,103,428 (GRCm39)	S372P	possibly damaging	Het
Smarcc2	T	C	10: 128,297,342 (GRCm39)		probably null	Het
Snrpf	T	C	10: 93,423,985 (GRCm39)	S2G	probably benign	Het
Speer2	C	A	16: 69,655,708 (GRCm39)	K39N	probably null	Het
Spink5	T	G	18: 44,119,490 (GRCm39)	F267C	probably damaging	Het
Tgfbrap1	G	T	1: 43,114,666 (GRCm39)	R145S	probably damaging	Het
Tmem161b	C	A	13: 84,442,887 (GRCm39)	T269K	possibly damaging	Het
Tmem64	T	C	4: 15,281,119 (GRCm39)	I304T	probably damaging	Het
Tomm7	A	G	5: 24,049,004 (GRCm39)	I23T	probably benign	Het
Top6bl	T	A	19: 4,708,449 (GRCm39)	S194C	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Ttr	C	T	18: 20,803,167 (GRCm39)	A111V	possibly damaging	Het
Usp47	T	A	7: 111,683,089 (GRCm39)	Y561N	probably damaging	Het
Vmn1r17	A	G	6: 57,337,828 (GRCm39)	V130A	probably benign	Het
Wdr45b	A	G	11: 121,219,621 (GRCm39)	I309T	probably benign	Het
Wnt6	T	C	1: 74,823,755 (GRCm39)	L364P	probably damaging	Het
Zc3h13	T	C	14: 75,573,449 (GRCm39)	L1530P	probably damaging	Het
Zfp933	A	G	4: 147,911,321 (GRCm39)	W60R	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
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

Predicted Primers

PCR Primer
(F):5'- AAAGTCAGATCTTGGTGCTTTG -3'
(R):5'- GCACAGATAAAGCAGGTTGC -3'

Sequencing Primer
(F):5'- CAGATCTTGGTGCTTTGTTCATC -3'
(R):5'- GCTTCAGACTTGAACCTGCTGAAG -3'

Posted On

2016-06-21