Mutagenetix > Incidental Mutation

Incidental Mutation 'R5543:Atp5po'

436127

Institutional Source

Beutler Lab

Gene Symbol

Atp5po

Ensembl Gene

ENSMUSG00000022956

Gene Name

ATP synthase peripheral stalk subunit OSCP

Synonyms

D12Wsu28e, Atp5o

MMRRC Submission

043101-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5543 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

91722111-91728518 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 91723418 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 58 (I58V)

Ref Sequence

ENSEMBL: ENSMUSP00000125172 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023677] [ENSMUST00000139277] [ENSMUST00000154661] [ENSMUST00000159295] [ENSMUST00000155452]

AlphaFold

Q9DB20

Predicted Effect

probably benign
Transcript: ENSMUST00000023677
AA Change: I124V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000023677
Gene: ENSMUSG00000022956
AA Change: I124V

Domain	Start	End	E-Value	Type
Pfam:OSCP	37	209	2e-45	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129701

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132049

Predicted Effect

probably benign
Transcript: ENSMUST00000139277
AA Change: I16V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141344

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150642

Predicted Effect

probably benign
Transcript: ENSMUST00000154661

Predicted Effect

probably benign
Transcript: ENSMUST00000159295
AA Change: I58V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000125172
Gene: ENSMUSG00000116933
AA Change: I58V

Domain	Start	End	E-Value	Type
Pfam:OSCP	1	89	1.1e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000155452

SMART Domains

Protein: ENSMUSP00000118216
Gene: ENSMUSG00000022956

Domain	Start	End	E-Value	Type
Pfam:OSCP	34	67	1e-4	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a component of the F-type ATPase found in the mitochondrial matrix. F-type ATPases are composed of a catalytic core and a membrane proton channel. The encoded protein appears to be part of the connector linking these two components and may be involved in transmission of conformational changes or proton conductance. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130023H24Rik	C	A	7: 127,836,353 (GRCm39)	S80I	probably benign	Het
Aak1	T	C	6: 86,959,627 (GRCm39)		probably null	Het
Abcc6	A	G	7: 45,638,960 (GRCm39)		probably null	Het
Acvr1	A	G	2: 58,353,157 (GRCm39)	S268P	probably damaging	Het
Apod	T	C	16: 31,122,351 (GRCm39)		probably null	Het
AU040320	C	T	4: 126,735,017 (GRCm39)	T777M	probably damaging	Het
Ccne2	A	T	4: 11,194,026 (GRCm39)	N89I	probably benign	Het
Cspg4b	C	A	13: 113,457,407 (GRCm39)	T1151K	probably damaging	Het
Dnah7a	A	G	1: 53,543,228 (GRCm39)	V2314A	probably damaging	Het
Dop1b	T	C	16: 93,595,808 (GRCm39)	S1881P	probably damaging	Het
E4f1	A	G	17: 24,666,336 (GRCm39)	V24A	possibly damaging	Het
Esrrg	A	T	1: 187,882,451 (GRCm39)	D236V	probably damaging	Het
Fam240b	T	A	13: 64,633,736 (GRCm39)	I27F	possibly damaging	Het
Fat1	T	A	8: 45,476,516 (GRCm39)	I1854N	probably damaging	Het
Fchsd2	T	C	7: 100,920,906 (GRCm39)	Y480H	probably damaging	Het
Fras1	A	G	5: 96,676,394 (GRCm39)	N47S	probably benign	Het
Gabrr3	T	C	16: 59,253,870 (GRCm39)	S196P	probably damaging	Het
Gbp8	T	A	5: 105,165,696 (GRCm39)	D319V	possibly damaging	Het
Hrh3	G	T	2: 179,745,763 (GRCm39)	A61E	probably damaging	Het
Idua	T	C	5: 108,818,095 (GRCm39)	I89T	probably benign	Het
Ifitm3	T	A	7: 140,589,730 (GRCm39)	I108F	unknown	Het
Izumo4	T	C	10: 80,538,668 (GRCm39)	F40S	probably damaging	Het
Kifc2	A	G	15: 76,551,242 (GRCm39)	R679G	probably damaging	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Ldha	A	T	7: 46,500,314 (GRCm39)	I171F	possibly damaging	Het
Lrfn4	T	C	19: 4,662,191 (GRCm39)	S609G	probably benign	Het
Mmp15	T	C	8: 96,094,729 (GRCm39)	F201S	possibly damaging	Het
Myof	C	T	19: 37,969,778 (GRCm39)	V295I	probably benign	Het
Or1n2	C	T	2: 36,797,369 (GRCm39)	T137I	possibly damaging	Het
Or2z2	T	A	11: 58,345,993 (GRCm39)	M261L	probably damaging	Het
Or5m12	G	T	2: 85,734,672 (GRCm39)	A242D	probably damaging	Het
Parp14	T	C	16: 35,655,137 (GRCm39)	D1778G	probably benign	Het
Pcnt	A	T	10: 76,247,886 (GRCm39)	D969E	probably benign	Het
Pibf1	A	T	14: 99,350,428 (GRCm39)	N192I	probably benign	Het
Pitpnm3	A	G	11: 71,947,023 (GRCm39)	F792S	probably damaging	Het
Pkd2	T	A	5: 104,637,199 (GRCm39)	I604N	probably damaging	Het
Pla2g15	T	C	8: 106,887,775 (GRCm39)	Y188H	probably damaging	Het
Plxnc1	G	T	10: 94,700,636 (GRCm39)	D643E	probably benign	Het
Prrc2c	G	A	1: 162,501,080 (GRCm39)	P1241L	probably damaging	Het
Ptprd	T	C	4: 75,977,990 (GRCm39)	E173G	probably damaging	Het
Shank3	T	C	15: 89,416,557 (GRCm39)	V232A	probably damaging	Het
Shbg	A	G	11: 69,507,564 (GRCm39)	I171T	probably damaging	Het
Slc22a14	A	T	9: 119,002,674 (GRCm39)	F404L	probably benign	Het
Slc37a3	C	A	6: 39,331,960 (GRCm39)	G158C	probably damaging	Het
Slfn9	C	A	11: 82,873,207 (GRCm39)	L565F	probably damaging	Het
Spmip10	G	A	18: 56,727,760 (GRCm39)		probably benign	Het
Trank1	T	A	9: 111,195,180 (GRCm39)	M1068K	probably damaging	Het
Trbv15	A	T	6: 41,118,187 (GRCm39)	I15L	probably benign	Het
Ttn	C	T	2: 76,569,918 (GRCm39)	V26992M	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Ugt2b34	T	A	5: 87,054,560 (GRCm39)	I74F	probably damaging	Het
Vamp3	A	G	4: 151,135,477 (GRCm39)	L47P	probably damaging	Het
Zfp143	T	A	7: 109,682,522 (GRCm39)	C363*	probably null	Het
Zfp438	T	C	18: 5,213,761 (GRCm39)	E399G	probably damaging	Het

Other mutations in Atp5po

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02158:Atp5po	APN	16	91,727,289 (GRCm39)	missense	probably damaging	1.00
IGL02547:Atp5po	APN	16	91,725,849 (GRCm39)	missense	probably damaging	1.00
IGL02626:Atp5po	APN	16	91,483,201 (GRCm39)	missense	probably damaging	1.00
IGL02632:Atp5po	APN	16	91,725,830 (GRCm39)	missense	probably benign	0.15
R0644:Atp5po	UTSW	16	91,723,372 (GRCm39)	missense	probably damaging	0.99
R3410:Atp5po	UTSW	16	91,725,794 (GRCm39)	missense	probably damaging	1.00
R3411:Atp5po	UTSW	16	91,725,794 (GRCm39)	missense	probably damaging	1.00
R5550:Atp5po	UTSW	16	91,727,292 (GRCm39)	missense	probably damaging	0.99
R7257:Atp5po	UTSW	16	91,723,755 (GRCm39)	missense	probably damaging	1.00
R7781:Atp5po	UTSW	16	91,723,417 (GRCm39)	missense	possibly damaging	0.61
R9313:Atp5po	UTSW	16	91,723,805 (GRCm39)	frame shift	probably null
R9313:Atp5po	UTSW	16	91,723,804 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- TCGGATCCCCACGACTAATC -3'
(R):5'- TCCTTAAATACCTGTGTGGGGAGG -3'

Sequencing Primer
(F):5'- TCACTAATAGGCCTTTCGAGTGGAAG -3'
(R):5'- TGGATCCCCTGGAACTGAAGTTAC -3'

Posted On

2016-10-24