Mutagenetix > Incidental Mutation

Incidental Mutation 'R1016:Mtus1'

96322

Institutional Source

Beutler Lab

Gene Symbol

Mtus1

Ensembl Gene

ENSMUSG00000045636

Gene Name

mitochondrial tumor suppressor 1

Synonyms

MTSG1, B430305I03Rik, MD44, Atip1

MMRRC Submission

039120-MU

Accession Numbers

Essential gene?

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

Stock #

R1016 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

41443951-41586763 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 41503063 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 784 (V784A)

Ref Sequence

ENSEMBL: ENSMUSP00000112626 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059115] [ENSMUST00000093534] [ENSMUST00000118835] [ENSMUST00000145860]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000059115
AA Change: V784A

PolyPhen 2 Score 0.426 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000059503
Gene: ENSMUSG00000045636
AA Change: V784A

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: ENSMUST00000093534
AA Change: V94A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000091252
Gene: ENSMUSG00000045636
AA Change: V94A

Domain	Start	End	E-Value	Type
coiled coil region	186	248	N/A	INTRINSIC
coiled coil region	273	455	N/A	INTRINSIC
low complexity region	505	519	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000118835
AA Change: V784A

PolyPhen 2 Score 0.426 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000112626
Gene: ENSMUSG00000045636
AA Change: V784A

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

noncoding transcript
Transcript: ENSMUST00000125903

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142936

Predicted Effect

unknown
Transcript: ENSMUST00000143853
AA Change: V200A

Predicted Effect

probably benign
Transcript: ENSMUST00000145860

SMART Domains

Protein: ENSMUSP00000119440
Gene: ENSMUSG00000045636

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

Coding Region Coverage

1x: 98.7%
3x: 97.5%
10x: 93.6%
20x: 84.3%

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ceacam20	T	A	7: 19,710,227 (GRCm39)	H6Q	probably null	Het
Clstn1	T	C	4: 149,731,286 (GRCm39)	I866T	probably benign	Het
Cntnap1	T	C	11: 101,068,333 (GRCm39)	V86A	probably damaging	Het
Crtc1	A	T	8: 70,844,769 (GRCm39)	Y351*	probably null	Het
Cul7	T	A	17: 46,974,116 (GRCm39)	L1467H	probably damaging	Het
Cyp2j12	C	T	4: 96,001,102 (GRCm39)		probably null	Het
Dmrt2	A	T	19: 25,652,938 (GRCm39)	K183N	probably damaging	Het
Fancl	G	T	11: 26,337,195 (GRCm39)		probably benign	Het
Fbxo40	G	A	16: 36,789,539 (GRCm39)	Q524*	probably null	Het
Flcn	T	C	11: 59,686,691 (GRCm39)		probably null	Het
Gm19965	T	A	1: 116,749,031 (GRCm39)	C237*	probably null	Het
Hpf1	A	G	8: 61,348,678 (GRCm39)	Y131C	possibly damaging	Het
Mdh1	A	G	11: 21,509,769 (GRCm39)	L202P	probably benign	Het
Mpl	T	C	4: 118,306,110 (GRCm39)	Y310C	probably damaging	Het
Myg1	T	C	15: 102,242,786 (GRCm39)	I159T	possibly damaging	Het
Nans	T	C	4: 46,500,716 (GRCm39)	Y203H	probably benign	Het
Ncapg2	G	A	12: 116,402,295 (GRCm39)	C709Y	probably damaging	Het
Or8b36	T	C	9: 37,937,987 (GRCm39)	V295A	probably damaging	Het
Parp12	T	C	6: 39,088,660 (GRCm39)	Y192C	probably damaging	Het
Plekha6	A	G	1: 133,187,832 (GRCm39)	N118D	probably benign	Het
Prg4	T	C	1: 150,330,442 (GRCm39)		probably benign	Het
Psip1	T	C	4: 83,378,135 (GRCm39)	T454A	possibly damaging	Het
Ptprz1	T	C	6: 23,000,973 (GRCm39)	L1021P	probably damaging	Het
Pvr	T	C	7: 19,643,142 (GRCm39)	I364V	probably benign	Het
Serpina5	A	G	12: 104,071,582 (GRCm39)	I396M	probably damaging	Het
Sgcb	A	C	5: 73,797,183 (GRCm39)	H192Q	probably benign	Het
Slc4a9	C	A	18: 36,664,478 (GRCm39)	H379N	probably benign	Het
Tet1	T	C	10: 62,715,729 (GRCm39)	D22G	probably benign	Het
Trim34a	T	C	7: 103,897,167 (GRCm39)	V77A	probably benign	Het
Ttc7b	T	C	12: 100,369,617 (GRCm39)	E384G	probably null	Het
Vmn2r16	G	A	5: 109,487,754 (GRCm39)	G209D	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
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

Predicted Primers

PCR Primer
(F):5'- CGGACATCTCTGCTCTACCAGCTA -3'
(R):5'- GGCCAGTAACTGCCTCTGCATT -3'

Sequencing Primer
(F):5'- gtgtgtgtgtggggggg -3'
(R):5'- AGTAACTGCCTCTGCATTCTTGG -3'

Posted On

2014-01-05