Mutagenetix > Incidental Mutations

Incidental Mutation 'R0178:Mtus1'

60653

Institutional Source

Beutler Lab

Gene Symbol

Mtus1

Ensembl Gene

ENSMUSG00000045636

Gene Name

mitochondrial tumor suppressor 1

Synonyms

B430305I03Rik, MD44, MTSG1, Atip1

MMRRC Submission

038446-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.295) question?

Stock #

R0178 (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: 98.9%
3x: 98.1%
10x: 95.5%
20x: 88.8%

Validation Efficiency

95% (69/73)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700125H20Rik	A	G	11: 85,178,438	H94R	probably benign	Het
4922502D21Rik	T	C	6: 129,326,823	R60G	probably benign	Het
4930596D02Rik	T	G	14: 35,811,478	N111T	probably benign	Het
9930021J03Rik	A	G	19: 29,754,788	S342P	probably damaging	Het
Abca1	T	C	4: 53,081,953	D769G	possibly damaging	Het
Adcy6	G	T	15: 98,604,215	Q173K	probably benign	Het
Amotl1	G	A	9: 14,548,773	A890V	probably benign	Het
Arfgap2	C	T	2: 91,267,361	A141V	probably benign	Het
Asb2	G	A	12: 103,325,552	P324L	probably damaging	Het
Cacna1g	G	A	11: 94,463,483	T202I	probably damaging	Het
Capn5	A	G	7: 98,132,891	L214P	probably damaging	Het
Cdh20	A	T	1: 104,975,051	D489V	possibly damaging	Het
Cers5	C	A	15: 99,747,024		probably benign	Het
Chrnb3	T	A	8: 27,393,364	V111D	probably damaging	Het
Colec12	C	T	18: 9,858,921	P568L	unknown	Het
Cyp2r1	T	C	7: 114,550,408	E248G	probably damaging	Het
Dnmt3b	A	G	2: 153,675,018	T536A	probably benign	Het
Eef2	G	A	10: 81,180,292	V496M	possibly damaging	Het
Fam118a	T	C	15: 85,045,880		probably benign	Het
Fer1l6	T	A	15: 58,637,914		probably null	Het
Fhad1	A	C	4: 141,955,340	F497V	probably benign	Het
Gbe1	G	A	16: 70,478,386	G358D	probably damaging	Het
Gdf10	A	G	14: 33,924,101	D69G	probably damaging	Het
Ggt6	A	G	11: 72,436,818	H150R	possibly damaging	Het
Gm1966	A	T	7: 106,601,821	Y739N	probably damaging	Het
Gm45713	A	T	7: 45,134,458	L110Q	probably damaging	Het
Gm9847	T	C	12: 14,494,648		noncoding transcript	Het
Grwd1	T	C	7: 45,830,630	E51G	probably damaging	Het
H13	A	G	2: 152,681,067	Y100C	probably damaging	Het
Kcne1	A	C	16: 92,348,809	M49R	probably damaging	Het
Kcnma1	C	T	14: 23,526,767	R236H	probably damaging	Het
Knl1	T	A	2: 119,058,405		probably benign	Het
Krt40	T	C	11: 99,541,739	I150M	probably damaging	Het
Ldb2	A	T	5: 44,473,499	V300E	probably damaging	Het
Lrp1b	A	T	2: 40,725,907	C3606S	probably damaging	Het
Lrrc42	A	G	4: 107,247,720	I16T	probably damaging	Het
Lrrc6	A	C	15: 66,454,101	D208E	probably benign	Het
Myot	T	C	18: 44,336,986	F10S	probably damaging	Het
Nrg3	A	T	14: 38,376,456	H480Q	probably damaging	Het
Olfr205	A	T	16: 59,329,420	F30I	probably damaging	Het
Olfr691	G	A	7: 105,336,922	R265C	probably benign	Het
Prl2c5	A	T	13: 13,191,805	D220V	probably damaging	Het
Rbm17	G	A	2: 11,587,779	S295L	probably benign	Het
Serpina6	A	G	12: 103,646,913	I376T	probably damaging	Het
Sh2d2a	A	T	3: 87,849,423	T192S	probably benign	Het
Slc27a1	T	C	8: 71,584,462	Y417H	possibly damaging	Het
Slc6a1	T	G	6: 114,304,852	I32S	possibly damaging	Het
Sntb1	T	C	15: 55,906,144	T150A	probably damaging	Het
Tanc1	T	A	2: 59,835,447	C1183*	probably null	Het
Tmprss7	C	A	16: 45,690,843	W57C	probably damaging	Het
Ubac1	A	T	2: 26,021,428	V36E	possibly damaging	Het
Zfc3h1	T	C	10: 115,406,725		probably benign	Het
Zfp644	C	T	5: 106,636,905	C592Y	probably 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
R0179: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

Predicted Primers

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

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

Posted On

2013-07-24