Mutagenetix > Incidental Mutation

Incidental Mutation 'R6545:Mpv17'

521089

Institutional Source

Beutler Lab

Gene Symbol

Mpv17

Ensembl Gene

ENSMUSG00000107283

Gene Name

MpV17 mitochondrial inner membrane protein

Synonyms

Tg.Mpv17

MMRRC Submission

044671-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6545 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

31298007-31311595 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 31302041 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000144119 (fasta)

Gene Model

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

AlphaFold

P19258

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136581

Predicted Effect

probably benign
Transcript: ENSMUST00000154241

SMART Domains

Protein: ENSMUSP00000115292
Gene: ENSMUSG00000107283

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 benign
Transcript: ENSMUST00000200744

SMART Domains

Protein: ENSMUSP00000143843
Gene: ENSMUSG00000107283

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 benign
Transcript: ENSMUST00000200833

SMART Domains

Protein: ENSMUSP00000144324
Gene: ENSMUSG00000107283

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 benign
Transcript: ENSMUST00000200864

SMART Domains

Protein: ENSMUSP00000144331
Gene: ENSMUSG00000107283

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 benign
Transcript: ENSMUST00000201171

Predicted Effect

probably benign
Transcript: ENSMUST00000201353

SMART Domains

Protein: ENSMUSP00000144198
Gene: ENSMUSG00000107283

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

Predicted Effect

unknown
Transcript: ENSMUST00000201491
AA Change: Y155F

SMART Domains

Protein: ENSMUSP00000144593
Gene: ENSMUSG00000107283
AA Change: Y155F

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

Predicted Effect

probably benign
Transcript: ENSMUST00000202241

SMART Domains

Protein: ENSMUSP00000144119
Gene: ENSMUSG00000107283

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: ENSMUST00000202203

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202836

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202614

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202375

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.6%

Validation Efficiency

95% (42/44)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ago1	C	T	4: 126,348,145 (GRCm39)	A58T	possibly damaging	Het
Ago4	T	A	4: 126,405,811 (GRCm39)	Q366L	probably benign	Het
Card10	C	A	15: 78,661,010 (GRCm39)	G950V	probably damaging	Het
Ceacam1	A	T	7: 25,173,279 (GRCm39)	V303D	probably damaging	Het
Cfap54	C	T	10: 92,672,319 (GRCm39)	R2917H	probably benign	Het
Cit	A	G	5: 115,984,493 (GRCm39)	S22G	probably null	Het
Cog4	A	G	8: 111,607,577 (GRCm39)	E666G	probably damaging	Het
Crocc2	A	G	1: 93,140,659 (GRCm39)	D1103G	probably benign	Het
Cttnbp2	A	T	6: 18,405,278 (GRCm39)		probably null	Het
Dctn3	T	C	4: 41,723,084 (GRCm39)	E16G	probably damaging	Het
Dnah6	A	G	6: 73,021,715 (GRCm39)	S3536P	probably damaging	Het
Eef2	T	A	10: 81,016,948 (GRCm39)	I675N	probably damaging	Het
Gga3	A	G	11: 115,477,995 (GRCm39)	F531S	possibly damaging	Het
Gm19410	A	G	8: 36,257,652 (GRCm39)	R697G	possibly damaging	Het
Gm3173	T	A	14: 15,728,395 (GRCm39)	M18K	possibly damaging	Het
Gm5800	A	T	14: 51,949,419 (GRCm39)	S175R	possibly damaging	Het
Gria2	T	C	3: 80,648,451 (GRCm39)	K95R	probably damaging	Het
Gstm6	A	G	3: 107,849,681 (GRCm39)	I76T	probably damaging	Het
Harbi1	T	G	2: 91,542,640 (GRCm39)	Y34D	probably damaging	Het
Hectd2	C	A	19: 36,564,778 (GRCm39)	Q20K	probably benign	Het
Inpp5f	C	A	7: 128,296,280 (GRCm39)	A250D	possibly damaging	Het
Irf9	T	C	14: 55,842,684 (GRCm39)	F59L	probably damaging	Het
Itgam	T	A	7: 127,707,044 (GRCm39)	M625K	probably damaging	Het
Kcnh5	C	T	12: 75,054,432 (GRCm39)	R504Q	probably damaging	Het
Lama2	T	C	10: 27,052,793 (GRCm39)	T1389A	probably benign	Het
Lin54	T	A	5: 100,632,996 (GRCm39)		probably null	Het
Mettl23	A	G	11: 116,740,042 (GRCm39)	D171G	possibly damaging	Het
Mgll	A	G	6: 88,802,685 (GRCm39)	N296S	probably benign	Het
Myof	A	T	19: 37,930,745 (GRCm39)	M1001K	possibly damaging	Het
Myom1	A	T	17: 71,389,300 (GRCm39)	Q850L	probably benign	Het
Or10ab5	A	T	7: 108,245,662 (GRCm39)	N40K	probably damaging	Het
Pias2	A	G	18: 77,217,781 (GRCm39)	I328V	possibly damaging	Het
Polh	G	A	17: 46,493,685 (GRCm39)	P311S	possibly damaging	Het
Prss34	A	T	17: 25,517,809 (GRCm39)	R61S	probably benign	Het
Rassf2	A	T	2: 131,840,237 (GRCm39)	M280K	probably damaging	Het
Rpsa	A	G	9: 119,959,323 (GRCm39)	H47R	probably benign	Het
Rtp3	A	G	9: 110,815,894 (GRCm39)	V219A	possibly damaging	Het
Smarcc2	T	C	10: 128,319,997 (GRCm39)	I790T	probably benign	Het
Stag3	A	G	5: 138,296,614 (GRCm39)	T491A	possibly damaging	Het
Svil	C	T	18: 5,108,621 (GRCm39)	H2007Y	probably benign	Het
Togaram1	T	G	12: 65,024,981 (GRCm39)	C750G	possibly damaging	Het
Vmn2r13	A	T	5: 109,304,806 (GRCm39)		probably null	Het
Vmn2r4	A	T	3: 64,313,777 (GRCm39)	D401E	possibly damaging	Het
Wdr97	C	T	15: 76,247,578 (GRCm39)	R1585C	probably damaging	Het
Wsb1	A	T	11: 79,141,881 (GRCm39)	D45E	probably damaging	Het
Zfp808	T	A	13: 62,319,709 (GRCm39)	Y313N	probably benign	Het

Other mutations in Mpv17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1672:Mpv17	UTSW	5	31,311,063 (GRCm39)	missense	probably damaging	1.00
R2144:Mpv17	UTSW	5	31,311,533 (GRCm39)	critical splice donor site	probably null
R4755:Mpv17	UTSW	5	31,303,326 (GRCm39)	nonsense	probably null
R8341:Mpv17	UTSW	5	31,311,447 (GRCm39)	start gained	probably null

Predicted Primers

PCR Primer
(F):5'- TTTGTGGGAGCAGAAGCCTC -3'
(R):5'- ACTTTCTCATTGCCTGCAGGG -3'

Sequencing Primer
(F):5'- CAGTGACACTCTAAGATGGTGTCC -3'
(R):5'- TTGCCTGCAGGGAAGCAC -3'

Posted On

2018-06-06