Mutagenetix > Incidental Mutation

Incidental Mutation 'R4755:Mpv17'

357892

Institutional Source

Beutler Lab

Gene Symbol

Mpv17

Ensembl Gene

ENSMUSG00000107283

Gene Name

MpV17 mitochondrial inner membrane protein

Synonyms

Tg.Mpv17

MMRRC Submission

042033-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4755 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

31140654-31154251 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 31145982 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 59 (C59*)

Ref Sequence

ENSEMBL: ENSMUSP00000144119 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000154241] [ENSMUST00000200744] [ENSMUST00000200833] [ENSMUST00000200864] [ENSMUST00000201353] [ENSMUST00000201491] [ENSMUST00000202241]

AlphaFold

P19258

Predicted Effect

probably null
Transcript: ENSMUST00000130452
AA Change: C70*

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136581

Predicted Effect

probably null
Transcript: ENSMUST00000154241
AA Change: C59*

SMART Domains

Protein: ENSMUSP00000115292
Gene: ENSMUSG00000107283
AA Change: C59*

Domain	Start	End	E-Value	Type
transmembrane domain	48	70	N/A	INTRINSIC
Pfam:Mpv17_PMP22	108	175	2.2e-28	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000200744
AA Change: C59*

SMART Domains

Protein: ENSMUSP00000143843
Gene: ENSMUSG00000107283
AA Change: C59*

Domain	Start	End	E-Value	Type
transmembrane domain	48	70	N/A	INTRINSIC
Pfam:Mpv17_PMP22	103	163	5.7e-18	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000200833
AA Change: C59*

SMART Domains

Protein: ENSMUSP00000144324
Gene: ENSMUSG00000107283
AA Change: C59*

Domain	Start	End	E-Value	Type
transmembrane domain	48	70	N/A	INTRINSIC
transmembrane domain	94	116	N/A	INTRINSIC
low complexity region	135	146	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000200864
AA Change: C59*

SMART Domains

Protein: ENSMUSP00000144331
Gene: ENSMUSG00000107283
AA Change: C59*

Domain	Start	End	E-Value	Type
transmembrane domain	48	70	N/A	INTRINSIC
Pfam:Mpv17_PMP22	109	174	1.7e-27	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000201171
AA Change: C19*

Predicted Effect

probably null
Transcript: ENSMUST00000201353
AA Change: C59*

SMART Domains

Protein: ENSMUSP00000144198
Gene: ENSMUSG00000107283
AA Change: C59*

Domain	Start	End	E-Value	Type
transmembrane domain	48	70	N/A	INTRINSIC
Pfam:Mpv17_PMP22	109	174	1.7e-27	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000201491
AA Change: C59*

SMART Domains

Protein: ENSMUSP00000144593
Gene: ENSMUSG00000107283
AA Change: C59*

Domain	Start	End	E-Value	Type
transmembrane domain	48	70	N/A	INTRINSIC
Pfam:Mpv17_PMP22	109	155	4.6e-18	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202203

Predicted Effect

probably null
Transcript: ENSMUST00000202241
AA Change: C59*

SMART Domains

Protein: ENSMUSP00000144119
Gene: ENSMUSG00000107283
AA Change: C59*

Domain	Start	End	E-Value	Type
transmembrane domain	48	70	N/A	INTRINSIC
Pfam:Mpv17_PMP22	109	176	4e-26	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202614

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202375

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202836

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.3%
20x: 95.3%

Validation Efficiency

96% (112/117)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a mitochondrial inner membrane protein that is implicated in the metabolism of reactive oxygen species. Mutations in this gene have been associated with the hepatocerebral form of mitochondrial DNA depletion syndrome (MDDS). [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for mutations in this gene develop symptoms of kidney failure similar to focal segmental glomerulosclerosis due to depletion of mitochondrial content. Inner ear degeneration is also seen. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 113 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930449A18Rik	T	A	3: 59,825,859 (GRCm38)		noncoding transcript	Het
Accs	T	C	2: 93,841,337 (GRCm38)	E236G	probably damaging	Het
Agrn	C	T	4: 156,173,522 (GRCm38)		probably benign	Het
Ahi1	A	G	10: 21,055,047 (GRCm38)	I929V	possibly damaging	Het
Akap5	C	A	12: 76,327,807 (GRCm38)	C4*	probably null	Het
Amotl2	A	T	9: 102,720,480 (GRCm38)	H146L	probably damaging	Het
Ank1	A	G	8: 23,104,974 (GRCm38)	N666S	probably damaging	Het
Atp10d	A	T	5: 72,246,166 (GRCm38)	T373S	probably benign	Het
Bpifb9b	T	A	2: 154,319,694 (GRCm38)	M582K	probably benign	Het
Brca2	T	A	5: 150,559,987 (GRCm38)		probably null	Het
C130079G13Rik	C	T	3: 59,936,314 (GRCm38)	A143V	probably benign	Het
C330021F23Rik	A	T	8: 3,583,922 (GRCm38)	S8C	probably damaging	Het
Ccdc149	A	G	5: 52,404,151 (GRCm38)	V229A	probably damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,712,500 (GRCm38)		probably benign	Het
Cdk5rap2	A	G	4: 70,238,425 (GRCm38)	S1617P	probably damaging	Het
Cenpk	A	T	13: 104,249,512 (GRCm38)	H305L	probably benign	Het
Cenpk	A	T	13: 104,230,871 (GRCm38)	M37L	probably benign	Het
Ces5a	C	A	8: 93,535,677 (GRCm38)	A11S	probably benign	Het
Cfap65	T	C	1: 74,928,361 (GRCm38)	E186G	probably damaging	Het
Cfh	T	A	1: 140,088,808 (GRCm38)	I593F	probably damaging	Het
Clstn2	C	T	9: 97,445,673 (GRCm38)	V961I	probably benign	Het
Cog5	T	A	12: 31,869,406 (GRCm38)		probably null	Het
Col4a4	T	C	1: 82,541,174 (GRCm38)	D100G	unknown	Het
Cyp3a41a	T	C	5: 145,715,506 (GRCm38)	D61G	probably damaging	Het
Dnah10	A	G	5: 124,747,745 (GRCm38)	N655S	probably benign	Het
Dnaic1	C	G	4: 41,610,269 (GRCm38)	T295R	probably damaging	Het
Dnajc6	C	T	4: 101,550,799 (GRCm38)	A44V	probably damaging	Het
Eif4enif1	A	T	11: 3,244,016 (GRCm38)	D960V	probably damaging	Het
Fam167b	C	T	4: 129,578,342 (GRCm38)	G12R	probably damaging	Het
Fam20b	A	T	1: 156,687,496 (GRCm38)	Y266*	probably null	Het
Fer1l6	T	A	15: 58,640,211 (GRCm38)	V1509D	probably benign	Het
Fhad1	A	T	4: 141,928,483 (GRCm38)	I105N	probably damaging	Het
Fmo2	T	C	1: 162,888,805 (GRCm38)	D71G	probably damaging	Het
Folr2	T	C	7: 101,843,799 (GRCm38)	T6A	possibly damaging	Het
Fry	A	C	5: 150,398,254 (GRCm38)	E1018A	probably damaging	Het
Gas2l2	A	G	11: 83,429,367 (GRCm38)	I21T	probably damaging	Het
Gfra1	T	C	19: 58,453,244 (GRCm38)	Y85C	probably damaging	Het
Gm9117	T	C	3: 93,938,786 (GRCm38)		probably null	Het
Gpld1	T	A	13: 24,979,692 (GRCm38)	Y44*	probably null	Het
Gpld1	A	T	13: 24,979,688 (GRCm38)	Y43F	probably benign	Het
Grid2	A	G	6: 63,908,988 (GRCm38)	T123A	probably benign	Het
Grina	T	C	15: 76,249,242 (GRCm38)	L305P	probably damaging	Het
Gucy1a1	G	A	3: 82,094,795 (GRCm38)	A659V	probably benign	Het
H2-T10	T	A	17: 36,118,945 (GRCm38)	K319*	probably null	Het
Hey2	A	T	10: 30,834,304 (GRCm38)	V151E	probably benign	Het
Ighv1-69	G	A	12: 115,623,558 (GRCm38)	T13I	probably benign	Het
Il1rap	C	A	16: 26,722,782 (GRCm38)	A591E	probably benign	Het
Ildr1	T	C	16: 36,722,021 (GRCm38)	L261P	probably benign	Het
Jak1	A	G	4: 101,174,157 (GRCm38)	Y463H	probably damaging	Het
Lrp1b	T	C	2: 41,269,273 (GRCm38)	I1666V	probably benign	Het
Lrp1b	T	A	2: 41,471,016 (GRCm38)	T592S	probably benign	Het
Lrrc36	A	G	8: 105,452,144 (GRCm38)	T445A	possibly damaging	Het
Ly9	G	A	1: 171,607,238 (GRCm38)	S29F	probably damaging	Het
Mapk7	A	C	11: 61,490,843 (GRCm38)	C32W	probably damaging	Het
March10	C	T	11: 105,364,476 (GRCm38)		probably benign	Het
Mier2	A	T	10: 79,549,197 (GRCm38)	M119K	probably damaging	Het
Mrpl27	G	A	11: 94,653,833 (GRCm38)		probably benign	Het
Myo18b	G	A	5: 112,874,474 (GRCm38)	Q351*	probably null	Het
Myo1a	A	G	10: 127,715,688 (GRCm38)	I704M	probably damaging	Het
Nadsyn1	A	G	7: 143,806,913 (GRCm38)	C373R	probably damaging	Het
Nckipsd	C	A	9: 108,814,739 (GRCm38)	A513E	probably benign	Het
Neb	T	C	2: 52,220,209 (GRCm38)	D209G	probably damaging	Het
Nkapl	T	A	13: 21,468,287 (GRCm38)	Q52L	unknown	Het
Nptx2	G	A	5: 144,546,440 (GRCm38)	S126N	probably benign	Het
Olfr13	G	A	6: 43,174,043 (GRCm38)	S19N	probably benign	Het
Olfr653	T	A	7: 104,580,061 (GRCm38)	Y138*	probably null	Het
Olfr829	A	T	9: 18,857,180 (GRCm38)	H185L	probably benign	Het
Olfr917	A	G	9: 38,665,832 (GRCm38)	V4A	probably benign	Het
Pclo	A	T	5: 14,714,348 (GRCm38)	R4278S	unknown	Het
Pcnx	T	G	12: 81,950,294 (GRCm38)	L988R	probably damaging	Het
Prl2c5	C	A	13: 13,189,385 (GRCm38)	N75K	probably benign	Het
Prpf19	T	G	19: 10,897,790 (GRCm38)		probably benign	Het
Ralgapa1	A	G	12: 55,712,748 (GRCm38)	S997P	probably damaging	Het
Rangap1	T	C	15: 81,712,917 (GRCm38)	T226A	probably benign	Het
Rimklb	G	A	6: 122,456,406 (GRCm38)	L262F	probably damaging	Het
Rnf169	A	G	7: 99,925,723 (GRCm38)	M555T	probably benign	Het
Rp1l1	A	T	14: 64,030,070 (GRCm38)	D1035V	probably benign	Het
Scd2	T	A	19: 44,301,352 (GRCm38)	L262Q	probably damaging	Het
Scgb2b12	T	A	7: 32,325,531 (GRCm38)	M84L	probably benign	Het
Shroom3	G	T	5: 92,943,086 (GRCm38)	V1151F	probably damaging	Het
Sipa1l1	G	A	12: 82,372,386 (GRCm38)	V613I	possibly damaging	Het
Slc25a23	T	A	17: 57,052,794 (GRCm38)	D67V	possibly damaging	Het
Slc25a39	C	T	11: 102,406,666 (GRCm38)		probably benign	Het
Slc4a10	T	A	2: 62,296,988 (GRCm38)	F895Y	probably damaging	Het
Slc5a4a	A	C	10: 76,186,564 (GRCm38)	K578Q	probably benign	Het
Slc6a13	G	A	6: 121,325,049 (GRCm38)	G197S	probably damaging	Het
Smarca2	A	T	19: 26,654,483 (GRCm38)	E566V	possibly damaging	Het
Sorbs3	A	T	14: 70,184,099 (GRCm38)	N594K	probably benign	Het
Spata22	A	T	11: 73,345,756 (GRCm38)	D296V	probably damaging	Het
Sphk2	G	A	7: 45,713,634 (GRCm38)	A11V	possibly damaging	Het
Spp1	A	T	5: 104,435,215 (GRCm38)		probably benign	Het
Strn3	T	A	12: 51,610,216 (GRCm38)	I760L	possibly damaging	Het
Syk	A	T	13: 52,641,986 (GRCm38)	Y539F	probably benign	Het
Thsd7b	T	A	1: 130,210,264 (GRCm38)	Y1560N	probably benign	Het
Tmod2	C	A	9: 75,597,212 (GRCm38)	E42*	probably null	Het
Tom1l1	T	C	11: 90,685,116 (GRCm38)	E30G	probably damaging	Het
Trav10	G	A	14: 53,506,061 (GRCm38)	A40T	probably benign	Het
Trav14-2	G	A	14: 53,640,780 (GRCm38)		probably benign	Het
Tril	T	A	6: 53,818,464 (GRCm38)	E591V	probably damaging	Het
Trp53bp1	T	A	2: 121,228,606 (GRCm38)	R179*	probably null	Het
Tspoap1	A	T	11: 87,771,663 (GRCm38)	D562V	possibly damaging	Het
Usp44	A	T	10: 93,846,906 (GRCm38)	H406L	probably damaging	Het
Vangl1	A	G	3: 102,158,292 (GRCm38)	I509T	probably benign	Het
Vax2	T	G	6: 83,711,397 (GRCm38)	L34W	probably damaging	Het
Vmn1r55	A	T	7: 5,147,026 (GRCm38)	C133S	probably damaging	Het
Vmn2r8	T	A	5: 108,801,700 (GRCm38)	D427V	probably benign	Het
Vwde	A	G	6: 13,205,852 (GRCm38)	I232T	possibly damaging	Het
Wnk1	C	A	6: 119,963,470 (GRCm38)	A769S	probably damaging	Het
Xpo4	A	C	14: 57,618,181 (GRCm38)	S264A	probably benign	Het
Zfp330	A	T	8: 82,769,386 (GRCm38)	C75*	probably null	Het
Zfp526	T	A	7: 25,225,639 (GRCm38)	L441Q	probably benign	Het
Zfp607b	T	G	7: 27,703,505 (GRCm38)	L462R	probably damaging	Het
Zfp719	T	A	7: 43,590,793 (GRCm38)	F602I	probably damaging	Het

Other mutations in Mpv17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1672:Mpv17	UTSW	5	31,153,719 (GRCm38)	missense	probably damaging	1.00
R2144:Mpv17	UTSW	5	31,154,189 (GRCm38)	critical splice donor site	probably null
R6545:Mpv17	UTSW	5	31,144,697 (GRCm38)	splice site	probably benign
R8341:Mpv17	UTSW	5	31,154,103 (GRCm38)	start gained	probably null

Predicted Primers

PCR Primer
(F):5'- CAGTGACAGACCCTTGGCTTTC -3'
(R):5'- AGAAGGGGCTGGTCATTTGC -3'

Sequencing Primer
(F):5'- GTGACAGACCCTTGGCTTTCATAAC -3'
(R):5'- GCTGGTCATTTGCCAGAAC -3'

Posted On

2015-11-11