Mutagenetix > Incidental Mutations

Incidental Mutation 'R0179:Mtus1'

43477

Institutional Source

Beutler Lab

Gene Symbol

Mtus1

Ensembl Gene

ENSMUSG00000045636

Gene Name

mitochondrial tumor suppressor 1

Synonyms

B430305I03Rik, MD44, MTSG1, Atip1

MMRRC Submission

038447-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.260) question?

Stock #

R0179 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

40990914-41133726 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 41002361 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Isoleucine at position 87 (L87I)

Ref Sequence

ENSEMBL: ENSMUSP00000121605 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000051379
AA Change: L188I

PolyPhen 2 Score 0.662 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000053554
Gene: ENSMUSG00000045636
AA Change: L188I

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

possibly damaging
Transcript: ENSMUST00000059115
AA Change: L958I

PolyPhen 2 Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000059503
Gene: ENSMUSG00000045636
AA Change: L958I

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: ENSMUST00000093534
AA Change: L268I

PolyPhen 2 Score 0.662 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000091252
Gene: ENSMUSG00000045636
AA Change: L268I

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

possibly damaging
Transcript: ENSMUST00000117735
AA Change: L94I

PolyPhen 2 Score 0.866 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000113082
Gene: ENSMUSG00000045636
AA Change: L94I

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000118835
AA Change: L958I

PolyPhen 2 Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000112626
Gene: ENSMUSG00000045636
AA Change: L958I

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: ENSMUST00000131965
AA Change: L87I

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000121605
Gene: ENSMUSG00000045636
AA Change: L87I

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

Meta Mutation Damage Score

0.0750

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 94.1%

Validation Efficiency

98% (81/83)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700022I11Rik	T	C	4: 42,972,214	S516P	probably benign	Het
4932431P20Rik	A	G	7: 29,535,940		noncoding transcript	Het
Adamts1	C	T	16: 85,795,465	S948N	probably benign	Het
Adck1	A	T	12: 88,459,172	M457L	possibly damaging	Het
Adprm	A	T	11: 67,038,225	H313Q	possibly damaging	Het
Adssl1	T	C	12: 112,632,269	I104T	probably benign	Het
Agxt2	A	C	15: 10,399,048	Q435P	possibly damaging	Het
Amotl1	G	A	9: 14,548,773	A890V	probably benign	Het
Ankrd50	A	G	3: 38,455,314	V968A	possibly damaging	Het
Brf2	T	C	8: 27,125,868	D163G	possibly damaging	Het
Cd226	C	A	18: 89,207,139	N53K	probably benign	Het
Cdc42ep2	T	C	19: 5,918,608	D23G	probably benign	Het
Cdc7	T	C	5: 106,965,039	S8P	probably benign	Het
Cdh8	C	T	8: 99,111,712	E499K	possibly damaging	Het
Chd7	T	A	4: 8,862,516	F2534L	probably benign	Het
Ckb	T	C	12: 111,670,176	T255A	probably benign	Het
Cntnap5c	G	T	17: 57,769,625	W19L	probably benign	Het
Cntrl	A	G	2: 35,167,859	E1854G	probably benign	Het
Colec12	C	T	18: 9,858,921	P568L	unknown	Het
Cop1	A	G	1: 159,250,066	D157G	probably benign	Het
Csf2rb	A	C	15: 78,336,372	Q38P	possibly damaging	Het
Ctla2b	T	C	13: 60,896,293	D52G	possibly damaging	Het
Dcaf7	A	T	11: 106,051,797	D190V	probably damaging	Het
Depdc5	T	A	5: 32,901,574		probably benign	Het
Dgkq	A	G	5: 108,658,200		probably benign	Het
Dhrs2	A	G	14: 55,240,476	T222A	probably damaging	Het
Dock1	G	A	7: 135,098,837	D1109N	probably damaging	Het
E4f1	G	C	17: 24,451,437	T92S	possibly damaging	Het
Ep400	A	T	5: 110,668,649	S2669T	probably damaging	Het
Eprs	T	G	1: 185,413,547	D1184E	probably benign	Het
Fpr-rs4	A	T	17: 18,022,027	K99*	probably null	Het
Fzr1	A	T	10: 81,369,070		probably benign	Het
Gcc2	C	T	10: 58,276,650	R1001C	probably benign	Het
Gm4884	A	G	7: 41,043,828	D407G	probably benign	Het
Golga4	A	T	9: 118,560,740		probably null	Het
Gp2	T	G	7: 119,452,317	D225A	possibly damaging	Het
Gramd1a	T	A	7: 31,142,418	T120S	probably damaging	Het
Hbb-bh2	T	A	7: 103,839,227	N121I	probably benign	Het
Htr6	A	T	4: 139,062,126	L276Q	probably damaging	Het
Itga9	A	T	9: 118,661,386	I262F	probably benign	Het
Lamc3	A	G	2: 31,915,084		probably benign	Het
Large1	T	C	8: 73,098,846	N200S	probably benign	Het
Lct	C	T	1: 128,327,685	V207I	probably benign	Het
Marf1	C	A	16: 14,151,176	L144F	probably damaging	Het
Morc2b	A	T	17: 33,136,982	Y605*	probably null	Het
Muc2	A	G	7: 141,748,971	Y17C	probably damaging	Het
Myf5	T	C	10: 107,485,918	D5G	possibly damaging	Het
Nasp	C	T	4: 116,602,157	V375M	probably damaging	Het
Nr1h2	A	T	7: 44,552,265		probably null	Het
Nrg2	T	C	18: 36,022,415	Q447R	probably benign	Het
Ntn5	G	A	7: 45,686,313	G56D	probably damaging	Het
Oasl2	A	G	5: 114,910,912	R138G	probably benign	Het
Olfr1209	A	T	2: 88,909,893	C167S	possibly damaging	Het
Olfr1489	T	A	19: 13,633,140	F10I	probably damaging	Het
Olfr827	T	C	10: 130,210,338	Y264C	probably damaging	Het
Pcdhb5	G	A	18: 37,322,559	G664D	probably damaging	Het
Ppp1r15a	T	C	7: 45,525,000	E128G	probably damaging	Het
Prpf19	T	C	19: 10,897,808		probably benign	Het
Ptpn3	T	A	4: 57,270,118	T15S	probably benign	Het
R3hdm2	G	A	10: 127,495,106	C818Y	probably damaging	Het
Rad51d	A	G	11: 82,889,998	V39A	possibly damaging	Het
Rptor	A	T	11: 119,872,367	T926S	probably benign	Het
Rwdd4a	G	A	8: 47,542,707	D41N	probably damaging	Het
Sephs1	A	G	2: 4,899,560	T250A	probably benign	Het
Ssbp3	T	C	4: 107,046,388	S334P	probably damaging	Het
Suco	A	G	1: 161,876,305		probably benign	Het
Synj1	T	C	16: 90,964,631	K649R	possibly damaging	Het
Tdp2	C	T	13: 24,840,448	H243Y	possibly damaging	Het
Tinag	A	G	9: 76,996,882		probably benign	Het
Trerf1	T	C	17: 47,316,662		noncoding transcript	Het
Trip10	T	C	17: 57,262,349		probably benign	Het
Tsen54	A	T	11: 115,822,030	S131C	probably damaging	Het
Unc5c	A	T	3: 141,818,067	R794*	probably null	Het
Vmn2r59	A	T	7: 42,047,008	Y103*	probably null	Het
Washc5	A	G	15: 59,352,530	V460A	probably benign	Het
Whamm	A	G	7: 81,594,015	T358A	probably benign	Het
Xlr4b	C	T	X: 73,218,671		probably benign	Het
Zbbx	C	T	3: 75,085,562		probably benign	Het
Zdhhc23	G	A	16: 43,973,703	P203S	probably benign	Het
Zfp27	T	A	7: 29,896,425	E38D	possibly damaging	Het

Other mutations in Mtus1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00708:Mtus1	APN	8	41084349	missense	probably damaging	1.00
IGL01377:Mtus1	APN	8	41083135	missense	possibly damaging	0.94
IGL01472:Mtus1	APN	8	41002412	missense	probably benign	0.01
IGL01995:Mtus1	APN	8	41084420	missense	probably damaging	1.00
IGL02027:Mtus1	APN	8	40993601	missense	probably damaging	1.00
IGL02381:Mtus1	APN	8	41083119	missense	probably benign	0.05
IGL02571:Mtus1	APN	8	41083482	missense	possibly damaging	0.90
IGL02936:Mtus1	APN	8	40999517	missense	possibly damaging	0.79
R0116:Mtus1	UTSW	8	40998477	unclassified	probably benign
R0139:Mtus1	UTSW	8	41016196	splice site	probably benign
R0178:Mtus1	UTSW	8	41002361	missense	possibly damaging	0.94
R0220:Mtus1	UTSW	8	40994572	missense	probably damaging	1.00
R0324:Mtus1	UTSW	8	41084395	missense	probably benign
R0355:Mtus1	UTSW	8	41082928	missense	probably benign	0.02
R0357:Mtus1	UTSW	8	41083526	missense	possibly damaging	0.71
R0464:Mtus1	UTSW	8	41002474	missense	probably damaging	0.96
R0681:Mtus1	UTSW	8	40993517	missense	probably damaging	1.00
R1016:Mtus1	UTSW	8	41050026	missense	probably benign	0.43
R1570:Mtus1	UTSW	8	41076241	missense	probably damaging	1.00
R1579:Mtus1	UTSW	8	41082858	missense	probably damaging	1.00
R1607:Mtus1	UTSW	8	41015409	missense	possibly damaging	0.58
R1869:Mtus1	UTSW	8	41076230	critical splice donor site	probably null
R1888:Mtus1	UTSW	8	41084325	missense	probably damaging	0.96
R1888:Mtus1	UTSW	8	41084325	missense	probably damaging	0.96
R1891:Mtus1	UTSW	8	41084325	missense	probably damaging	0.96
R1894:Mtus1	UTSW	8	41084325	missense	probably damaging	0.96
R2063:Mtus1	UTSW	8	41082708	missense	probably damaging	1.00
R2111:Mtus1	UTSW	8	41022571	missense	probably damaging	1.00
R2112:Mtus1	UTSW	8	41022571	missense	probably damaging	1.00
R2224:Mtus1	UTSW	8	41082775	missense	probably damaging	1.00
R2226:Mtus1	UTSW	8	41082775	missense	probably damaging	1.00
R2227:Mtus1	UTSW	8	41082775	missense	probably damaging	1.00
R2516:Mtus1	UTSW	8	41082739	missense	probably damaging	1.00
R3414:Mtus1	UTSW	8	41048063	missense	probably damaging	1.00
R3899:Mtus1	UTSW	8	41083129	missense	probably benign
R4096:Mtus1	UTSW	8	41084247	missense	probably damaging	0.99
R4831:Mtus1	UTSW	8	41083152	missense	probably damaging	1.00
R4850:Mtus1	UTSW	8	41084470	missense	possibly damaging	0.81
R4916:Mtus1	UTSW	8	41000801	missense	probably damaging	1.00
R4940:Mtus1	UTSW	8	41041478	missense	possibly damaging	0.52
R4988:Mtus1	UTSW	8	41084541	missense	probably benign	0.05
R5133:Mtus1	UTSW	8	41083192	missense	probably benign	0.00
R5468:Mtus1	UTSW	8	41084578	missense	probably benign	0.00
R5598:Mtus1	UTSW	8	41022555	missense	probably damaging	1.00
R5782:Mtus1	UTSW	8	41082727	missense	probably damaging	1.00
R5860:Mtus1	UTSW	8	41076266	missense	probably damaging	0.99
R5900:Mtus1	UTSW	8	41083497	missense	possibly damaging	0.92
R5943:Mtus1	UTSW	8	41084265	missense	probably benign	0.00
R6019:Mtus1	UTSW	8	41083040	missense	probably benign	0.33
R6125:Mtus1	UTSW	8	41084539	missense	probably damaging	0.99
R6197:Mtus1	UTSW	8	41084037	missense	possibly damaging	0.90
R6488:Mtus1	UTSW	8	41041508	missense	possibly damaging	0.52
R6869:Mtus1	UTSW	8	41082654	missense	possibly damaging	0.71
R7117:Mtus1	UTSW	8	41083584	missense	possibly damaging	0.95
R7126:Mtus1	UTSW	8	41015402	missense	probably damaging	0.98
R7213:Mtus1	UTSW	8	41084487	missense	probably damaging	0.99
R7308:Mtus1	UTSW	8	41082928	missense	probably benign	0.02
R7424:Mtus1	UTSW	8	41022406	missense	probably damaging	1.00
R7481:Mtus1	UTSW	8	41084615	missense	probably damaging	0.99
R7485:Mtus1	UTSW	8	41084553	missense	probably benign	0.37
R7660:Mtus1	UTSW	8	41016211	missense	probably benign
R7699:Mtus1	UTSW	8	41083969	missense	possibly damaging	0.94
R7700:Mtus1	UTSW	8	41083969	missense	possibly damaging	0.94
R7709:Mtus1	UTSW	8	41054650	missense	possibly damaging	0.81
R7791:Mtus1	UTSW	8	41083380	missense	possibly damaging	0.88
R8196:Mtus1	UTSW	8	41056652	missense	probably benign
R8463:Mtus1	UTSW	8	41083234	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TAGAGCTGGTGGGATCACAGAGCTTG -3'
(R):5'- GCAAATGTAAAAGGCCCTCTCCTCTTC -3'

Sequencing Primer
(F):5'- ctgtctatctgtctgtctgcc -3'
(R):5'- CTTTCTGCCCATTTCAGTTGC -3'

Posted On

2013-05-24