Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02626:Atp5po'

301102

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Atp5po

Ensembl Gene

ENSMUSG00000022956

Gene Name

ATP synthase peripheral stalk subunit OSCP

Synonyms

D12Wsu28e, Atp5o

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02626

Quality Score

Status

Chromosome

Chromosomal Location

91722111-91728518 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 91483201 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 47 (P47S)

Ref Sequence

ENSEMBL: ENSMUSP00000122506 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023682] [ENSMUST00000073466] [ENSMUST00000114031] [ENSMUST00000117159] [ENSMUST00000117644] [ENSMUST00000122254] [ENSMUST00000159295] [ENSMUST00000145833] [ENSMUST00000136699] [ENSMUST00000138560] [ENSMUST00000139324] [ENSMUST00000144461] [ENSMUST00000133942]

AlphaFold

Q9DB20

Predicted Effect

probably damaging
Transcript: ENSMUST00000023682
AA Change: P149S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000023682
Gene: ENSMUSG00000022960
AA Change: P149S

Domain	Start	End	E-Value	Type
low complexity region	34	55	N/A	INTRINSIC
low complexity region	58	72	N/A	INTRINSIC
low complexity region	340	361	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000073466

SMART Domains

Protein: ENSMUSP00000073171
Gene: ENSMUSG00000058240

Domain	Start	End	E-Value	Type
Pfam:ADH_N	30	142	3.7e-7	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000114031
AA Change: P149S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000109665
Gene: ENSMUSG00000022960
AA Change: P149S

Domain	Start	End	E-Value	Type
low complexity region	34	55	N/A	INTRINSIC
low complexity region	58	72	N/A	INTRINSIC
low complexity region	340	361	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000117159
AA Change: P149S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113220
Gene: ENSMUSG00000022960
AA Change: P149S

Domain	Start	End	E-Value	Type
low complexity region	34	55	N/A	INTRINSIC
low complexity region	58	72	N/A	INTRINSIC
low complexity region	340	361	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000117644

SMART Domains

Protein: ENSMUSP00000113227
Gene: ENSMUSG00000058240

Domain	Start	End	E-Value	Type
Pfam:ADH_zinc_N	141	212	1.3e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000122254

SMART Domains

Protein: ENSMUSP00000112734
Gene: ENSMUSG00000058240

Domain	Start	End	E-Value	Type
Blast:PKS_ER	71	150	1e-9	BLAST
SCOP:d1heta1	73	137	4e-12	SMART
low complexity region	172	190	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123893

Predicted Effect

probably damaging
Transcript: ENSMUST00000159295
AA Change: P101S

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000125172
Gene: ENSMUSG00000116933
AA Change: P101S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000145833
AA Change: P47S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000136699
AA Change: P47S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000138560
AA Change: P119S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000121591
Gene: ENSMUSG00000022960
AA Change: P119S

Domain	Start	End	E-Value	Type
low complexity region	31	52	N/A	INTRINSIC
low complexity region	55	69	N/A	INTRINSIC
low complexity region	310	331	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000139324
AA Change: P149S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000120957
Gene: ENSMUSG00000022960
AA Change: P149S

Domain	Start	End	E-Value	Type
low complexity region	34	55	N/A	INTRINSIC
low complexity region	58	72	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140199

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156242

Predicted Effect

probably benign
Transcript: ENSMUST00000144461

SMART Domains

Protein: ENSMUSP00000123648
Gene: ENSMUSG00000022960

Domain	Start	End	E-Value	Type
low complexity region	34	55	N/A	INTRINSIC
low complexity region	58	72	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231425

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232491

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232177

Predicted Effect

probably benign
Transcript: ENSMUST00000133942

SMART Domains

Protein: ENSMUSP00000121386
Gene: ENSMUSG00000022960

Domain	Start	End	E-Value	Type
low complexity region	128	149	N/A	INTRINSIC

Coding Region Coverage

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	A	G	15: 81,949,810 (GRCm39)	K1236E	probably damaging	Het
Actl7a	A	T	4: 56,744,353 (GRCm39)	E293D	possibly damaging	Het
Adamts2	T	C	11: 50,667,082 (GRCm39)	Y460H	probably damaging	Het
Aoc1	G	A	6: 48,883,044 (GRCm39)	V307I	probably benign	Het
Ar	C	T	X: 97,358,492 (GRCm39)	H756Y	probably damaging	Het
Atg3	C	T	16: 45,004,048 (GRCm39)	R224W	probably benign	Het
Bicd1	A	G	6: 149,311,054 (GRCm39)	E43G	probably damaging	Het
Ccdc88c	A	G	12: 100,934,059 (GRCm39)		probably benign	Het
Cd33	A	G	7: 43,179,736 (GRCm39)		probably benign	Het
Cd36	T	A	5: 18,002,126 (GRCm39)	R292*	probably null	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Cdh23	T	C	10: 60,227,580 (GRCm39)	D1167G	probably damaging	Het
Cdk5rap1	A	G	2: 154,207,880 (GRCm39)		probably null	Het
Chd6	A	G	2: 160,881,270 (GRCm39)		probably benign	Het
Chd7	A	T	4: 8,826,519 (GRCm39)	Y961F	probably damaging	Het
Cpe	T	C	8: 65,145,829 (GRCm39)	E52G	probably benign	Het
Cpne5	C	T	17: 29,379,311 (GRCm39)	G491S	probably damaging	Het
Csmd3	A	T	15: 47,567,503 (GRCm39)		probably benign	Het
Ctbp2	T	A	7: 132,600,940 (GRCm39)	T608S	probably benign	Het
Cybb	A	G	X: 9,335,439 (GRCm39)		probably null	Het
Daam2	T	C	17: 49,797,282 (GRCm39)	T168A	possibly damaging	Het
Dnah5	G	T	15: 28,307,422 (GRCm39)	V1717F	possibly damaging	Het
Dse	G	A	10: 34,029,158 (GRCm39)	T644I	probably damaging	Het
Dtd2	A	C	12: 52,051,708 (GRCm39)	Y45*	probably null	Het
Fgfr1op2	T	A	6: 146,491,509 (GRCm39)	M124K	probably benign	Het
Flii	T	C	11: 60,610,685 (GRCm39)	D537G	probably benign	Het
Fntb	T	A	12: 76,944,145 (GRCm39)	I217N	probably benign	Het
Foxi1	A	G	11: 34,155,860 (GRCm39)	S257P	probably benign	Het
Fyn	G	A	10: 39,402,798 (GRCm39)	R190H	probably damaging	Het
Gm28557	T	A	13: 67,223,008 (GRCm39)	T8S	probably benign	Het
Gramd1b	T	C	9: 40,209,306 (GRCm39)	K873E	probably damaging	Het
Grb10	T	C	11: 11,895,503 (GRCm39)	T329A	probably benign	Het
Haus5	A	G	7: 30,356,675 (GRCm39)	L477P	probably damaging	Het
Hectd4	A	T	5: 121,491,944 (GRCm39)	E3761V	possibly damaging	Het
Ift172	T	C	5: 31,421,840 (GRCm39)	I930V	probably benign	Het
Itprid1	T	A	6: 55,945,631 (GRCm39)	V784D	probably benign	Het
Izumo2	A	G	7: 44,358,560 (GRCm39)		probably benign	Het
Map4k4	A	G	1: 40,053,257 (GRCm39)		probably benign	Het
Morc1	A	G	16: 48,436,123 (GRCm39)	S753G	probably damaging	Het
Mpzl2	C	T	9: 44,955,590 (GRCm39)	T167I	probably damaging	Het
Mta2	T	A	19: 8,926,532 (GRCm39)	I491N	probably damaging	Het
Myo18b	A	T	5: 113,025,951 (GRCm39)	I33N	unknown	Het
Nub1	C	T	5: 24,908,462 (GRCm39)	H404Y	possibly damaging	Het
Or10ak13	T	C	4: 118,639,531 (GRCm39)	M84V	probably damaging	Het
Or4f58	A	T	2: 111,851,458 (GRCm39)	V247E	probably damaging	Het
Or5d47	T	C	2: 87,804,068 (GRCm39)	N314D	probably benign	Het
Or8d2b	T	C	9: 38,788,784 (GRCm39)	L104S	probably benign	Het
Ralyl	A	T	3: 13,842,094 (GRCm39)	M77L	probably benign	Het
Rap1gap	T	A	4: 137,454,364 (GRCm39)	V649E	probably benign	Het
Rnf40	C	A	7: 127,195,744 (GRCm39)	Q663K	probably damaging	Het
Slc22a18	T	C	7: 143,052,837 (GRCm39)	L354P	probably damaging	Het
Slc9a8	T	C	2: 167,309,597 (GRCm39)		probably benign	Het
Surf4	C	T	2: 26,815,619 (GRCm39)		probably null	Het
T	A	T	17: 8,654,069 (GRCm39)	N85Y	probably damaging	Het
Tanc1	A	G	2: 59,630,216 (GRCm39)	E732G	probably damaging	Het
Tas2r138	A	G	6: 40,589,649 (GRCm39)	V199A	possibly damaging	Het
Trim43b	T	C	9: 88,967,541 (GRCm39)	Y365C	possibly damaging	Het
Ubd	T	C	17: 37,506,573 (GRCm39)	L153P	probably damaging	Het
Xpnpep2	A	C	X: 47,215,786 (GRCm39)	M513L	probably benign	Het
Zar1l	C	T	5: 150,441,210 (GRCm39)	G139R	probably damaging	Het
Zc3hav1	T	G	6: 38,309,926 (GRCm39)	T299P	probably damaging	Het
Zfp236	C	A	18: 82,676,120 (GRCm39)		probably benign	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
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
R5543:Atp5po	UTSW	16	91,723,418 (GRCm39)	missense	probably benign	0.00
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

Posted On

2015-04-16