Mutagenetix > Incidental Mutation

Incidental Mutation 'R0357:Mtus1'

29885

Institutional Source

Beutler Lab

Gene Symbol

Mtus1

Ensembl Gene

ENSMUSG00000045636

Gene Name

mitochondrial tumor suppressor 1

Synonyms

B430305I03Rik, MD44, MTSG1, Atip1

MMRRC Submission

038563-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.371) question?

Stock #

R0357 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

40990914-41133726 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 41083526 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 384 (S384R)

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

possibly damaging
Transcript: ENSMUST00000059115
AA Change: S384R

PolyPhen 2 Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000059503
Gene: ENSMUSG00000045636
AA Change: S384R

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: ENSMUST00000118835
AA Change: S384R

PolyPhen 2 Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000112626
Gene: ENSMUSG00000045636
AA Change: S384R

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: S384R

PolyPhen 2 Score 0.361 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000119440
Gene: ENSMUSG00000045636
AA Change: S384R

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

Predicted Effect

probably benign
Transcript: ENSMUST00000155055

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.0%
3x: 97.9%
10x: 95.3%
20x: 89.3%

Validation Efficiency

99% (74/75)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110002H16Rik	T	C	18: 12,179,209	S169P	possibly damaging	Het
4930402H24Rik	A	T	2: 130,712,946		probably benign	Het
4931428F04Rik	A	T	8: 105,285,067	V222E	probably damaging	Het
4932431P20Rik	A	T	7: 29,535,582		noncoding transcript	Het
9230019H11Rik	A	T	10: 3,120,307		noncoding transcript	Het
9230019H11Rik	A	G	10: 3,125,788		noncoding transcript	Het
Abcf2	T	C	5: 24,573,465	K232E	probably benign	Het
AI837181	C	T	19: 5,426,703	T298I	possibly damaging	Het
Alox12	T	C	11: 70,242,536	Y614C	probably damaging	Het
Amn	A	T	12: 111,274,141		probably null	Het
Ankrd33b	A	G	15: 31,305,126	S121P	probably benign	Het
Aox1	A	G	1: 58,092,516	Y1028C	probably damaging	Het
Asph	C	A	4: 9,453,314	R736L	probably benign	Het
Atp2a3	G	A	11: 72,970,931		probably null	Het
Cables2	T	C	2: 180,262,232		probably benign	Het
Catsperg2	A	T	7: 29,714,901	Y360N	possibly damaging	Het
Ccdc129	T	A	6: 55,968,034	M580K	probably benign	Het
Cd163l1	T	G	7: 140,227,895	C660G	probably damaging	Het
Cdh4	T	C	2: 179,847,340	S282P	probably damaging	Het
Col5a3	C	T	9: 20,807,768		probably benign	Het
Ctso	A	T	3: 81,951,543		probably benign	Het
Cyp4f13	A	T	17: 32,932,651	Y125*	probably null	Het
Dapk1	T	A	13: 60,729,558	L537*	probably null	Het
Ddit4l	G	A	3: 137,626,185	R104Q	probably benign	Het
Def6	C	T	17: 28,223,935	H322Y	probably damaging	Het
Dnah6	T	C	6: 73,188,359	N588D	probably benign	Het
Dzip1	T	A	14: 118,909,538	I320F	probably damaging	Het
Epb41l5	T	C	1: 119,609,204	H319R	probably damaging	Het
Erc2	A	G	14: 27,777,022	E285G	probably damaging	Het
Fam109b	C	T	15: 82,343,316	A12V	probably damaging	Het
Fat4	G	A	3: 38,891,227	G1423E	probably damaging	Het
Foxp2	C	T	6: 15,409,840	P480S	probably damaging	Het
Gadd45gip1	G	A	8: 84,834,133	A126T	probably damaging	Het
Gbp5	G	A	3: 142,505,411	D301N	probably benign	Het
Gm10360	T	C	6: 70,424,313		noncoding transcript	Het
Gm6471	T	A	7: 142,833,867		noncoding transcript	Het
Gm8674	T	A	13: 49,902,113		noncoding transcript	Het
Hist2h2bb	A	C	3: 96,269,788	K13Q	probably null	Het
Ift172	A	G	5: 31,257,900	S1322P	possibly damaging	Het
Ift80	A	T	3: 68,914,653	Y686*	probably null	Het
Insrr	A	C	3: 87,808,646		probably null	Het
Krt83	C	T	15: 101,487,019	V399M	probably benign	Het
Macf1	T	C	4: 123,457,983	N3708S	probably damaging	Het
Mogat1	T	C	1: 78,512,040	S27P	probably benign	Het
Mrgpra4	A	T	7: 47,981,826	M9K	probably benign	Het
Myo1a	T	A	10: 127,710,902	M306K	probably benign	Het
Noxa1	G	T	2: 25,085,850	D403E	probably damaging	Het
Ogdhl	T	C	14: 32,346,458	V884A	possibly damaging	Het
Olfr1335	A	C	4: 118,809,417	L149R	probably damaging	Het
Olfr1392	A	G	11: 49,293,786	N155S	probably damaging	Het
Olfr424	T	A	1: 174,137,299	L185*	probably null	Het
Olfr429	T	C	1: 174,089,109	V23A	possibly damaging	Het
Paxip1	G	A	5: 27,758,623		probably benign	Het
Paxx	T	A	2: 25,460,067	E145D	probably damaging	Het
Pde4d	T	C	13: 109,951,268	V560A	possibly damaging	Het
Plxnd1	C	T	6: 115,969,460	V847M	probably benign	Het
Polk	T	A	13: 96,504,597	M151L	probably damaging	Het
Ptprq	C	T	10: 107,686,199		probably benign	Het
Pum2	A	G	12: 8,721,785	Q371R	possibly damaging	Het
Reln	G	A	5: 21,950,822	A2224V	probably damaging	Het
Shroom1	A	G	11: 53,465,208	T362A	probably damaging	Het
Smarcd2	A	G	11: 106,267,332		probably null	Het
Spg11	A	C	2: 122,066,232		probably benign	Het
Tcaf3	T	A	6: 42,589,827	Y776F	probably damaging	Het
Thada	A	G	17: 84,230,936	V1548A	probably damaging	Het
Trpv2	C	T	11: 62,590,304	P410S	probably damaging	Het
Ube2u	G	T	4: 100,481,654	E39*	probably null	Het
Vmn2r2	C	T	3: 64,133,899		probably null	Het
Vmn2r24	TCC	TC	6: 123,815,410		probably null	Het
Zfp110	A	G	7: 12,836,375	Y43C	probably damaging	Het
Zfp605	A	G	5: 110,124,379	T55A	probably benign	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
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
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
R8724:Mtus1	UTSW	8	40998463	missense	probably damaging	0.99
R9047:Mtus1	UTSW	8	41083723	missense	possibly damaging	0.94
R9092:Mtus1	UTSW	8	41002438	missense	probably damaging	1.00
R9283:Mtus1	UTSW	8	41083482	missense	probably benign	0.02
R9313:Mtus1	UTSW	8	41082886	missense	probably damaging	0.99
R9329:Mtus1	UTSW	8	41084202	missense	probably damaging	1.00
R9603:Mtus1	UTSW	8	41083758	missense	probably benign	0.04
R9711:Mtus1	UTSW	8	41083185	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TTCAGCAGGTTCAAGTCTGAAGCTC -3'
(R):5'- TGATGCAAACTGACAGTCCAGACG -3'

Sequencing Primer
(F):5'- CTGAAGCTCAGATTGGGGG -3'
(R):5'- ACAAGCTGTGACACTGGTTTC -3'

Posted On

2013-04-24