Mutagenetix > Incidental Mutation

Incidental Mutation 'R4916:Mtus1'

380072

Institutional Source

Beutler Lab

Gene Symbol

Mtus1

Ensembl Gene

ENSMUSG00000045636

Gene Name

mitochondrial tumor suppressor 1

Synonyms

MTSG1, B430305I03Rik, MD44, Atip1

MMRRC Submission

042518-MU

Accession Numbers

Essential gene?

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

Stock #

R4916 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

41443951-41586763 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 41453838 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 998 (K998N)

Ref Sequence

ENSEMBL: ENSMUSP00000112626 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051379] [ENSMUST00000059115] [ENSMUST00000093534] [ENSMUST00000117735] [ENSMUST00000118835] [ENSMUST00000131965]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000051379
AA Change: K228N

PolyPhen 2 Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000053554
Gene: ENSMUSG00000045636
AA Change: K228N

Domain	Start	End	E-Value	Type
coiled coil region	106	168	N/A	INTRINSIC
coiled coil region	193	375	N/A	INTRINSIC
low complexity region	425	439	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000059115
AA Change: K998N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000059503
Gene: ENSMUSG00000045636
AA Change: K998N

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: ENSMUST00000093534
AA Change: K308N

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000091252
Gene: ENSMUSG00000045636
AA Change: K308N

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: ENSMUST00000117735

SMART Domains

Protein: ENSMUSP00000113082
Gene: ENSMUSG00000045636

Domain	Start	End	E-Value	Type
coiled coil region	16	74	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000118835
AA Change: K998N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000112626
Gene: ENSMUSG00000045636
AA Change: K998N

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: ENSMUST00000131965

SMART Domains

Protein: ENSMUSP00000121605
Gene: ENSMUSG00000045636

Domain	Start	End	E-Value	Type
coiled coil region	9	67	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135194

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155626

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.9%
20x: 91.0%

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: 106 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930595D18Rik	G	A	12: 111,141,369 (GRCm39)	Q19*	probably null	Het
6030468B19Rik	T	A	11: 117,697,092 (GRCm39)	C230*	probably null	Het
Adcy10	A	G	1: 165,345,815 (GRCm39)	E288G	probably damaging	Het
Adnp	T	A	2: 168,029,537 (GRCm39)	T51S	possibly damaging	Het
Agap3	C	A	5: 24,683,011 (GRCm39)	A464D	probably damaging	Het
Ago4	A	C	4: 126,400,635 (GRCm39)	C693G	probably damaging	Het
Ahi1	A	G	10: 20,860,303 (GRCm39)	R675G	probably damaging	Het
Amigo1	T	A	3: 108,094,981 (GRCm39)	L160Q	probably damaging	Het
Ankrd35	T	C	3: 96,591,438 (GRCm39)	S575P	probably benign	Het
Ano3	T	A	2: 110,601,365 (GRCm39)	T298S	possibly damaging	Het
Ap2b1	T	G	11: 83,281,532 (GRCm39)	F813V	probably damaging	Het
Aplnr	T	G	2: 84,967,261 (GRCm39)	F95L	probably damaging	Het
Apobec2	T	C	17: 48,730,153 (GRCm39)	E171G	probably benign	Het
Ascc1	A	G	10: 59,840,684 (GRCm39)	N15S	probably benign	Het
AY358078	T	A	14: 52,040,108 (GRCm39)	Y73N	unknown	Het
B3gnt8	C	A	7: 25,328,308 (GRCm39)	P246Q	probably damaging	Het
C2cd2l	T	C	9: 44,227,857 (GRCm39)	Q250R	probably damaging	Het
Camk2d	T	C	3: 126,577,624 (GRCm39)	Y180H	probably damaging	Het
Ccdc170	A	G	10: 4,468,971 (GRCm39)	E167G	probably damaging	Het
Cdcp3	T	A	7: 130,776,206 (GRCm39)		probably null	Het
Cdyl2	A	G	8: 117,305,926 (GRCm39)	M445T	probably damaging	Het
Clca3a1	T	C	3: 144,721,605 (GRCm39)	D322G	probably benign	Het
Cnot10	C	T	9: 114,458,202 (GRCm39)	M101I	possibly damaging	Het
Cntrl	C	T	2: 35,055,694 (GRCm39)	T1196M	probably benign	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Dcaf6	T	C	1: 165,247,774 (GRCm39)	D153G	probably damaging	Het
Dennd2c	G	A	3: 103,039,140 (GRCm39)	G96E	probably benign	Het
Dhrs9	T	C	2: 69,231,752 (GRCm39)	F304S	probably damaging	Het
Dmxl1	T	C	18: 50,010,764 (GRCm39)	S974P	probably damaging	Het
Dnah6	T	C	6: 73,169,659 (GRCm39)		probably benign	Het
Dnah7c	T	C	1: 46,634,168 (GRCm39)	L1049P	probably damaging	Het
Dnajc2	T	C	5: 21,962,338 (GRCm39)	K621E	probably damaging	Het
Ehbp1	T	C	11: 22,096,592 (GRCm39)	D299G	probably benign	Het
Erap1	A	G	13: 74,794,647 (GRCm39)	E102G	probably benign	Het
Fasn	T	G	11: 120,707,472 (GRCm39)	N799T	probably benign	Het
Fbxl20	T	C	11: 98,019,186 (GRCm39)	D22G	probably damaging	Het
Fgfr1	T	C	8: 26,053,542 (GRCm39)		probably null	Het
Frzb	A	T	2: 80,276,871 (GRCm39)	I105N	probably damaging	Het
Gabrb1	T	A	5: 72,026,764 (GRCm39)	F55Y	probably damaging	Het
Gatd1	G	T	7: 140,989,010 (GRCm39)	C216*	probably null	Het
Gnl2	A	C	4: 124,937,485 (GRCm39)	N255T	probably damaging	Het
Golgb1	A	T	16: 36,736,480 (GRCm39)	Q1909L	probably benign	Het
Gpnmb	T	C	6: 49,028,904 (GRCm39)	L474P	probably damaging	Het
H60b	T	C	10: 22,163,115 (GRCm39)	V230A	possibly damaging	Het
Hmcn2	T	A	2: 31,250,992 (GRCm39)	V818D	probably damaging	Het
Irag2	C	A	6: 145,111,027 (GRCm39)	S277R	probably damaging	Het
Itprid1	C	T	6: 55,955,175 (GRCm39)	P928S	possibly damaging	Het
Jade2	G	T	11: 51,707,909 (GRCm39)	T768K	probably benign	Het
Kif28	T	C	1: 179,530,085 (GRCm39)	H692R	probably benign	Het
Kmt2b	T	C	7: 30,277,942 (GRCm39)	N1634S	probably damaging	Het
Knop1	A	G	7: 118,445,299 (GRCm39)	W222R	probably damaging	Het
Map1b	T	C	13: 99,569,808 (GRCm39)	D971G	unknown	Het
Mapk7	G	T	11: 61,384,475 (GRCm39)	T77K	probably damaging	Het
Mcm6	A	G	1: 128,276,714 (GRCm39)	L292P	probably damaging	Het
Megf8	T	C	7: 25,039,089 (GRCm39)	L900P	probably benign	Het
Meis1	G	A	11: 18,831,776 (GRCm39)	H421Y	possibly damaging	Het
Minar2	A	T	18: 59,205,277 (GRCm39)	I22F	probably damaging	Het
Mllt1	T	C	17: 57,206,813 (GRCm39)	T344A	probably benign	Het
Mta1	T	A	12: 113,100,160 (GRCm39)	S657T	probably benign	Het
Ncdn	G	A	4: 126,643,731 (GRCm39)	L364F	possibly damaging	Het
Ndufb7	T	C	8: 84,297,534 (GRCm39)	L63P	probably damaging	Het
Nfix	T	C	8: 85,498,458 (GRCm39)	I172V	probably benign	Het
Nos1	T	C	5: 118,085,635 (GRCm39)		probably null	Het
Nrp1	C	A	8: 129,229,285 (GRCm39)	S921*	probably null	Het
Oma1	T	C	4: 103,176,727 (GRCm39)		probably null	Het
Or3a1b	A	T	11: 74,012,705 (GRCm39)	I197F	probably benign	Het
Or5b106	T	A	19: 13,123,355 (GRCm39)	I223L	possibly damaging	Het
Pcp2	T	A	8: 3,675,534 (GRCm39)		probably benign	Het
Pdk4	T	A	6: 5,489,157 (GRCm39)	H250L	possibly damaging	Het
Phldb3	A	G	7: 24,323,716 (GRCm39)	H449R	probably benign	Het
Pip4k2c	T	C	10: 127,035,196 (GRCm39)	T391A	possibly damaging	Het
Polrmt	A	G	10: 79,582,385 (GRCm39)	M1T	probably null	Het
Ppfia2	G	C	10: 106,597,978 (GRCm39)	L180F	probably damaging	Het
Prkcg	T	G	7: 3,378,781 (GRCm39)	Y624*	probably null	Het
Psmg2	A	G	18: 67,781,926 (GRCm39)	E164G	probably damaging	Het
Rb1	A	T	14: 73,454,131 (GRCm39)	L589H	probably damaging	Het
Rcvrn	A	T	11: 67,586,591 (GRCm39)	I117F	probably damaging	Het
Rere	T	A	4: 150,703,601 (GRCm39)	W1528R	probably damaging	Het
Robo2	A	G	16: 73,695,803 (GRCm39)	S1447P	possibly damaging	Het
Scfd2	C	A	5: 74,623,319 (GRCm39)	G405W	probably damaging	Het
Scin	T	A	12: 40,119,373 (GRCm39)	I552F	possibly damaging	Het
Serpina3k	G	A	12: 104,309,269 (GRCm39)	V238M	probably damaging	Het
Slc1a6	G	A	10: 78,632,085 (GRCm39)	V304M	probably damaging	Het
Slc20a2	C	T	8: 23,051,020 (GRCm39)	S351L	probably damaging	Het
Slc31a2	T	C	4: 62,215,325 (GRCm39)	V124A	probably damaging	Het
Slc38a3	T	C	9: 107,533,426 (GRCm39)	N244S	probably benign	Het
Slc4a1	A	G	11: 102,243,279 (GRCm39)	V784A	probably damaging	Het
Slc6a5	T	C	7: 49,598,004 (GRCm39)	F623L	probably benign	Het
Slf2	T	G	19: 44,960,100 (GRCm39)	D1022E	probably damaging	Het
Slfn8	G	A	11: 82,907,704 (GRCm39)	H280Y	probably damaging	Het
Smpdl3a	A	T	10: 57,677,127 (GRCm39)	D45V	probably damaging	Het
Ssh3	T	C	19: 4,315,170 (GRCm39)	E342G	probably damaging	Het
Tacr1	A	T	6: 82,531,922 (GRCm39)	I273F	probably benign	Het
Tfg	T	A	16: 56,514,759 (GRCm39)		probably null	Het
Tmem179	A	G	12: 112,468,268 (GRCm39)	L71P	probably damaging	Het
Tmem63a	T	A	1: 180,794,086 (GRCm39)	I541N	probably benign	Het
Traj20	G	A	14: 54,436,924 (GRCm39)		probably benign	Het
Trappc13	A	T	13: 104,290,802 (GRCm39)		probably null	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Tulp1	A	G	17: 28,578,109 (GRCm39)	L310P	probably damaging	Het
Ube3d	A	G	9: 86,304,925 (GRCm39)	Y306H	probably damaging	Het
Urb1	A	T	16: 90,580,216 (GRCm39)	V649E	probably damaging	Het
Vps13d	A	G	4: 144,709,963 (GRCm39)	L4211P	probably damaging	Het
Vwa5b1	T	A	4: 138,321,573 (GRCm39)	I407F	possibly damaging	Het
Vwce	G	T	19: 10,624,243 (GRCm39)	C378F	probably damaging	Het
Zfp791	T	A	8: 85,837,580 (GRCm39)	I95L	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
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'- AGGGCATCCACTGACAATGAAC -3'
(R):5'- GCCAGAGTGGGTTGTTCTACAC -3'

Sequencing Primer
(F):5'- TCCACTGACAATGAACAATGC -3'
(R):5'- CACATGTGTTAGGTGGCTGCAAC -3'

Posted On

2016-04-15