Mutagenetix > Incidental Mutation

Incidental Mutation 'R0464:Atp5f1a'

71459

Institutional Source

Beutler Lab

Gene Symbol

Atp5f1a

Ensembl Gene

ENSMUSG00000025428

Gene Name

ATP synthase F1 subunit alpha

Synonyms

Atp5a1, Atpm, D18Ertd206e, Mom2

MMRRC Submission

038664-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0464 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

77861468-77870569 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 77867622 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 299 (Y299H)

Ref Sequence

ENSEMBL: ENSMUSP00000026495 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026495] [ENSMUST00000114748] [ENSMUST00000135678]

AlphaFold

Q03265

Predicted Effect

probably benign
Transcript: ENSMUST00000026495
AA Change: Y299H

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000026495
Gene: ENSMUSG00000025428
AA Change: Y299H

Domain	Start	End	E-Value	Type
low complexity region	4	21	N/A	INTRINSIC
Pfam:ATP-synt_ab_N	67	135	3.4e-17	PFAM
Pfam:ATP-synt_ab	192	415	5.7e-76	PFAM
Pfam:ATP-synt_ab_C	427	528	1.3e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000114748
AA Change: Y249H

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

SMART Domains

Protein: ENSMUSP00000110396
Gene: ENSMUSG00000025428
AA Change: Y249H

Domain	Start	End	E-Value	Type
Pfam:ATP-synt_ab_N	17	85	1.1e-19	PFAM
Pfam:ATP-synt_ab	141	365	4.8e-75	PFAM
Pfam:ATP-synt_ab_C	377	479	2e-29	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128073

Predicted Effect

probably benign
Transcript: ENSMUST00000135678

SMART Domains

Protein: ENSMUSP00000120436
Gene: ENSMUSG00000025428

Domain	Start	End	E-Value	Type
low complexity region	4	21	N/A	INTRINSIC
PDB:2W6J\|C	22	78	5e-27	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146869

Meta Mutation Damage Score

0.1774

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 94.7%

Validation Efficiency

100% (80/80)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, using an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the alpha subunit of the catalytic core. Alternatively spliced transcript variants encoding the different isoforms have been identified. Pseudogenes of this gene are located on chromosomes 9, 2, and 16. [provided by RefSeq, Mar 2012]
PHENOTYPE: Mice carrying a targeted mutation of this gene display preweaning and embryonic lethality. Heterozygous mutants exhibit decreased body weight and lean body mass and reduced circulating insulin, serum albumin, and total protein levels. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ada	G	T	2: 163,574,884 (GRCm39)	Y84*	probably null	Het
Adar	T	A	3: 89,642,889 (GRCm39)	C257S	possibly damaging	Het
Adgrd1	G	T	5: 129,239,714 (GRCm39)	C507F	probably damaging	Het
Bok	G	T	1: 93,621,935 (GRCm39)	R77L	probably damaging	Het
Cdx2	C	A	5: 147,243,283 (GRCm39)	K170N	possibly damaging	Het
Ceacam1	A	G	7: 25,171,442 (GRCm39)	S341P	possibly damaging	Het
Cfhr3	A	T	1: 139,521,683 (GRCm39)		noncoding transcript	Het
Ckap5	A	G	2: 91,409,858 (GRCm39)	I947V	probably benign	Het
Clec2i	T	C	6: 128,872,386 (GRCm39)	Y173H	probably damaging	Het
Cttnbp2	T	C	6: 18,408,690 (GRCm39)	D977G	possibly damaging	Het
Cyp2f2	C	A	7: 26,831,962 (GRCm39)	Q406K	probably benign	Het
Ddx28	A	G	8: 106,736,685 (GRCm39)	S458P	probably damaging	Het
Dppa3	T	A	6: 122,605,492 (GRCm39)		probably null	Het
Dusp10	C	A	1: 183,801,273 (GRCm39)	L347I	probably benign	Het
Fads1	C	T	19: 10,160,429 (GRCm39)	P5L	probably benign	Het
Fbxl15	A	T	19: 46,316,951 (GRCm39)	E13D	probably benign	Het
Fhit	T	A	14: 10,991,567 (GRCm38)		probably benign	Het
Fras1	G	T	5: 96,784,662 (GRCm39)	V882F	probably damaging	Het
G3bp1	T	C	11: 55,389,452 (GRCm39)	F383L	probably damaging	Het
Gabbr1	C	T	17: 37,361,726 (GRCm39)		probably benign	Het
Ganc	T	A	2: 120,267,175 (GRCm39)	V497D	probably benign	Het
Glt8d2	T	G	10: 82,490,564 (GRCm39)	H242P	possibly damaging	Het
Gna15	T	C	10: 81,348,338 (GRCm39)	Y131C	probably benign	Het
Gpatch8	T	C	11: 102,371,712 (GRCm39)	K609E	unknown	Het
Gprc5a	A	T	6: 135,056,413 (GRCm39)	K287*	probably null	Het
Iqub	T	A	6: 24,479,262 (GRCm39)	K427*	probably null	Het
Itpr2	C	G	6: 146,277,387 (GRCm39)	D666H	probably damaging	Het
Kcnj5	T	C	9: 32,234,269 (GRCm39)	I15M	possibly damaging	Het
Kcnn2	A	G	18: 45,693,426 (GRCm39)	E334G	probably damaging	Het
Lypd6	T	A	2: 50,080,690 (GRCm39)	I126N	probably damaging	Het
Ms4a20	A	G	19: 11,089,801 (GRCm39)	L28P	probably damaging	Het
Mtus1	T	C	8: 41,455,511 (GRCm39)	D56G	probably damaging	Het
Myo1h	A	G	5: 114,498,571 (GRCm39)	D889G	probably damaging	Het
Myrf	G	C	19: 10,195,526 (GRCm39)	T428S	probably benign	Het
Nab1	T	C	1: 52,529,174 (GRCm39)	D241G	possibly damaging	Het
Naip2	A	C	13: 100,298,290 (GRCm39)	I582S	probably benign	Het
Ncbp3	C	T	11: 72,960,647 (GRCm39)		probably benign	Het
Nek1	T	A	8: 61,525,307 (GRCm39)		probably benign	Het
Nf1	T	C	11: 79,447,615 (GRCm39)	V2452A	probably benign	Het
Nlrp1b	A	C	11: 71,109,070 (GRCm39)	S144A	probably damaging	Het
Npr2	A	T	4: 43,640,597 (GRCm39)		probably null	Het
Pak3	TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	"TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC,TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC"	X: 142,526,889 (GRCm39)		probably benign	Het
Paox	T	A	7: 139,709,195 (GRCm39)		probably benign	Het
Pcdh15	T	A	10: 74,462,676 (GRCm39)		probably null	Het
Pde8b	G	A	13: 95,241,206 (GRCm39)	T202M	probably damaging	Het
Pigo	A	T	4: 43,019,814 (GRCm39)	V905D	probably benign	Het
Pik3cb	A	G	9: 98,926,796 (GRCm39)		probably null	Het
Rassf5	T	C	1: 131,139,998 (GRCm39)	N87S	probably benign	Het
Rbl1	C	A	2: 156,989,465 (GRCm39)	K1051N	probably damaging	Het
Rfx7	T	C	9: 72,525,486 (GRCm39)	V892A	probably damaging	Het
Ripply1	TTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT	TTCCTCCTCCTCCTCCTCCTCCTCCTCCT	X: 138,680,599 (GRCm39)		probably benign	Het
Rnf144b	T	A	13: 47,396,363 (GRCm39)	Y233*	probably null	Het
Safb	C	T	17: 56,913,025 (GRCm39)	R914C	probably damaging	Het
Sbf2	T	C	7: 110,063,783 (GRCm39)		probably benign	Het
Sgo2a	A	T	1: 58,039,253 (GRCm39)	K85N	probably damaging	Het
Siglec1	A	T	2: 130,921,279 (GRCm39)	C631S	probably damaging	Het
Simc1	C	T	13: 54,684,913 (GRCm39)	R50*	probably null	Het
Skint5	T	A	4: 113,392,928 (GRCm39)	M1235L	unknown	Het
Slc22a19	A	T	19: 7,660,278 (GRCm39)	N377K	probably benign	Het
Spata31d1a	A	G	13: 59,849,573 (GRCm39)	F852L	possibly damaging	Het
Spata31e3	A	G	13: 50,402,311 (GRCm39)		probably benign	Het
Srbd1	G	A	17: 86,427,430 (GRCm39)	S401F	probably damaging	Het
Stk36	C	A	1: 74,650,331 (GRCm39)	Q288K	probably damaging	Het
Styx	T	C	14: 45,609,908 (GRCm39)	S191P	probably benign	Het
Supt6	T	A	11: 78,107,164 (GRCm39)	N1214I	probably benign	Het
Tcim	T	A	8: 24,928,644 (GRCm39)	D90V	probably damaging	Het
Tdpoz1	T	A	3: 93,578,782 (GRCm39)	M1L	probably damaging	Het
Tep1	T	A	14: 51,085,141 (GRCm39)	T881S	probably benign	Het
Tlr5	C	T	1: 182,801,275 (GRCm39)	A193V	probably benign	Het
Tmem117	T	A	15: 94,612,800 (GRCm39)	F112Y	probably damaging	Het
Tnrc6c	C	T	11: 117,651,375 (GRCm39)	R1633W	probably damaging	Het
Trh	T	C	6: 92,220,649 (GRCm39)		probably null	Het
Triobp	A	G	15: 78,851,186 (GRCm39)	R447G	possibly damaging	Het
Trip6	A	G	5: 137,311,943 (GRCm39)	F46S	probably damaging	Het
Ubxn4	G	A	1: 128,190,641 (GRCm39)	E256K	probably benign	Het
Usp33	T	C	3: 152,081,872 (GRCm39)		probably benign	Het
Vmn2r60	A	T	7: 41,785,255 (GRCm39)	I156F	probably damaging	Het
Wdr17	T	C	8: 55,123,427 (GRCm39)		probably benign	Het
Wdr35	G	T	12: 9,077,472 (GRCm39)		probably benign	Het
Wwp1	C	T	4: 19,638,763 (GRCm39)		probably benign	Het
Zfp652	T	C	11: 95,654,475 (GRCm39)	C293R	probably damaging	Het

Other mutations in Atp5f1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01419:Atp5f1a	APN	18	77,865,233 (GRCm39)	missense	probably damaging	1.00
IGL01536:Atp5f1a	APN	18	77,868,012 (GRCm39)	intron	probably benign
IGL01585:Atp5f1a	APN	18	77,868,758 (GRCm39)	missense	possibly damaging	0.95
IGL02973:Atp5f1a	APN	18	77,867,849 (GRCm39)	missense	probably damaging	1.00
R0268:Atp5f1a	UTSW	18	77,867,895 (GRCm39)	missense	probably damaging	0.96
R0344:Atp5f1a	UTSW	18	77,867,895 (GRCm39)	missense	probably damaging	0.96
R0399:Atp5f1a	UTSW	18	77,869,536 (GRCm39)	nonsense	probably null
R1471:Atp5f1a	UTSW	18	77,868,969 (GRCm39)	missense	probably damaging	1.00
R1476:Atp5f1a	UTSW	18	77,869,625 (GRCm39)	missense	probably benign	0.00
R1630:Atp5f1a	UTSW	18	77,865,267 (GRCm39)	missense	possibly damaging	0.94
R2102:Atp5f1a	UTSW	18	77,870,017 (GRCm39)	missense	probably damaging	0.99
R4424:Atp5f1a	UTSW	18	77,867,766 (GRCm39)	intron	probably benign
R4746:Atp5f1a	UTSW	18	77,866,442 (GRCm39)	missense	probably benign	0.00
R4864:Atp5f1a	UTSW	18	77,869,015 (GRCm39)	missense	possibly damaging	0.84
R5191:Atp5f1a	UTSW	18	77,867,929 (GRCm39)	missense	probably damaging	1.00
R6217:Atp5f1a	UTSW	18	77,869,056 (GRCm39)	missense	probably benign
R6262:Atp5f1a	UTSW	18	77,868,912 (GRCm39)	missense	probably damaging	1.00
R6263:Atp5f1a	UTSW	18	77,866,930 (GRCm39)	splice site	probably null
R6284:Atp5f1a	UTSW	18	77,866,168 (GRCm39)	missense	probably benign	0.30
R6873:Atp5f1a	UTSW	18	77,863,540 (GRCm39)	nonsense	probably null
R7442:Atp5f1a	UTSW	18	77,866,820 (GRCm39)	missense	probably benign	0.04
R7661:Atp5f1a	UTSW	18	77,861,802 (GRCm39)	missense	possibly damaging	0.70
R7696:Atp5f1a	UTSW	18	77,868,686 (GRCm39)	missense	probably damaging	1.00
R7846:Atp5f1a	UTSW	18	77,869,015 (GRCm39)	missense	possibly damaging	0.84
R8473:Atp5f1a	UTSW	18	77,867,625 (GRCm39)	missense	probably damaging	1.00
R8785:Atp5f1a	UTSW	18	77,866,923 (GRCm39)	missense	probably benign	0.05
R9062:Atp5f1a	UTSW	18	77,866,459 (GRCm39)	nonsense	probably null
R9275:Atp5f1a	UTSW	18	77,868,997 (GRCm39)	missense	probably damaging	1.00
R9301:Atp5f1a	UTSW	18	77,868,938 (GRCm39)	missense	probably damaging	1.00
X0021:Atp5f1a	UTSW	18	77,868,973 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTTACATAGCAAGCTCCAGTACCC -3'
(R):5'- AGGAATCGTTCATCTTGGCTGCTC -3'

Sequencing Primer
(F):5'- tccagtaccccgaagcc -3'
(R):5'- TGTAGGTAGAACACATCACCAG -3'

Posted On

2013-09-30