Mutagenetix > Incidental Mutation

Incidental Mutation 'R0344:Atp5f1a'

26476

Institutional Source

Beutler Lab

Gene Symbol

Atp5f1a

Ensembl Gene

ENSMUSG00000025428

Gene Name

ATP synthase F1 subunit alpha

Synonyms

Atp5a1, Atpm, D18Ertd206e, Mom2

MMRRC Submission

038551-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0344 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

77861468-77870569 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 77867895 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 356 (N356K)

Ref Sequence

ENSEMBL: ENSMUSP00000026495 (fasta)

Gene Model

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

AlphaFold

Q03265

Predicted Effect

probably damaging
Transcript: ENSMUST00000026495
AA Change: N356K

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000026495
Gene: ENSMUSG00000025428
AA Change: N356K

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

possibly damaging
Transcript: ENSMUST00000114748
AA Change: N306K

PolyPhen 2 Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000110396
Gene: ENSMUSG00000025428
AA Change: N306K

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

0.2464

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.3%
20x: 93.6%

Validation Efficiency

99% (81/82)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930553J12Rik	T	A	16: 88,617,189 (GRCm39)	C29*	probably null	Het
Abca4	G	A	3: 121,877,613 (GRCm39)	C324Y	probably damaging	Het
Ablim2	T	G	5: 35,994,277 (GRCm39)		probably benign	Het
Abr	A	T	11: 76,369,870 (GRCm39)	V115E	probably damaging	Het
Adgrl2	C	T	3: 148,571,231 (GRCm39)		probably null	Het
Aff3	A	T	1: 38,243,013 (GRCm39)	S936T	probably benign	Het
Agap3	T	C	5: 24,656,200 (GRCm39)		probably benign	Het
Ahrr	T	A	13: 74,362,705 (GRCm39)	S393C	probably damaging	Het
Amfr	T	C	8: 94,713,998 (GRCm39)		probably null	Het
Ankrd26	C	A	6: 118,484,598 (GRCm39)		probably null	Het
Asxl3	G	A	18: 22,650,668 (GRCm39)	V886I	probably benign	Het
AU021092	A	T	16: 5,040,031 (GRCm39)	M31K	possibly damaging	Het
Bicral	A	G	17: 47,124,978 (GRCm39)		probably benign	Het
Btbd9	C	T	17: 30,493,916 (GRCm39)	D492N	possibly damaging	Het
C3ar1	T	C	6: 122,827,731 (GRCm39)	D162G	probably benign	Het
Camkk2	C	T	5: 122,901,940 (GRCm39)	C123Y	probably benign	Het
Casp8ap2	A	T	4: 32,644,079 (GRCm39)	I1051F	probably damaging	Het
Catsperg1	A	T	7: 28,894,965 (GRCm39)	V544E	probably damaging	Het
Cdc27	G	A	11: 104,417,817 (GRCm39)		probably benign	Het
Colec12	C	T	18: 9,858,921 (GRCm39)	P568L	unknown	Het
Dennd6b	T	C	15: 89,080,432 (GRCm39)	Q56R	probably benign	Het
Dmac2l	T	C	12: 69,787,663 (GRCm39)		probably benign	Het
Fbxl17	G	A	17: 63,692,062 (GRCm39)		probably benign	Het
Fubp1	T	C	3: 151,925,350 (GRCm39)	V164A	probably damaging	Het
Gdap2	G	A	3: 100,085,572 (GRCm39)	G165S	probably damaging	Het
Gns	A	G	10: 121,219,328 (GRCm39)	K352E	probably benign	Het
Gtf2ird2	C	T	5: 134,220,088 (GRCm39)	T22M	probably damaging	Het
Herc3	A	G	6: 58,845,613 (GRCm39)		probably benign	Het
Hp1bp3	C	T	4: 137,964,520 (GRCm39)	S348F	probably damaging	Het
Inpp1	A	T	1: 52,838,513 (GRCm39)	F45L	probably damaging	Het
Ipo4	T	C	14: 55,863,399 (GRCm39)	Q1073R	possibly damaging	Het
Itgae	A	G	11: 73,008,973 (GRCm39)	K485E	probably benign	Het
Jak2	G	A	19: 29,261,029 (GRCm39)	V342I	probably damaging	Het
Kptn	C	A	7: 15,859,666 (GRCm39)	Q297K	probably damaging	Het
Lims2	A	G	18: 32,077,573 (GRCm39)	E103G	probably benign	Het
Mthfr	C	G	4: 148,139,885 (GRCm39)	S618W	probably damaging	Het
Nanos3	C	T	8: 84,902,763 (GRCm39)	R133Q	probably damaging	Het
Nup133	A	G	8: 124,644,185 (GRCm39)	V727A	possibly damaging	Het
Oas2	T	G	5: 120,881,152 (GRCm39)	E313A	probably damaging	Het
Or10d4c	G	A	9: 39,558,646 (GRCm39)	C208Y	probably damaging	Het
Or52b2	C	A	7: 104,986,814 (GRCm39)	M36I	probably benign	Het
Or5b105	G	A	19: 13,080,642 (GRCm39)	R3C	possibly damaging	Het
Or5m8	T	A	2: 85,822,726 (GRCm39)	C188*	probably null	Het
Or5p63	A	T	7: 107,810,949 (GRCm39)	Y262*	probably null	Het
Park7	A	G	4: 150,992,806 (GRCm39)	V20A	possibly damaging	Het
Pgap4	T	C	4: 49,586,566 (GRCm39)	T201A	probably benign	Het
Phldb1	C	A	9: 44,612,964 (GRCm39)	V919L	probably benign	Het
Pkhd1l1	C	A	15: 44,460,407 (GRCm39)	H4205Q	probably benign	Het
Plekhg3	G	T	12: 76,613,040 (GRCm39)	E449*	probably null	Het
Pramel26	A	T	4: 143,537,338 (GRCm39)	I331N	probably damaging	Het
Pstpip1	T	C	9: 56,033,929 (GRCm39)	V301A	probably benign	Het
Ptdss1	G	A	13: 67,081,636 (GRCm39)	R22H	probably damaging	Het
Ptprq	A	G	10: 107,541,443 (GRCm39)	V361A	probably benign	Het
Ralgapa2	A	T	2: 146,188,714 (GRCm39)	V1309E	possibly damaging	Het
Rere	T	C	4: 150,695,438 (GRCm39)		probably benign	Het
Sbk3	T	A	7: 4,970,404 (GRCm39)	T322S	possibly damaging	Het
Scn9a	T	A	2: 66,335,354 (GRCm39)	I1203L	probably damaging	Het
Setdb1	A	T	3: 95,233,442 (GRCm39)		probably benign	Het
Sik3	C	A	9: 46,120,109 (GRCm39)	Q683K	probably damaging	Het
Slc24a5	A	G	2: 124,927,621 (GRCm39)	I307V	probably benign	Het
Smg6	A	G	11: 74,820,647 (GRCm39)	D306G	probably damaging	Het
Snx13	G	A	12: 35,136,899 (GRCm39)	W120*	probably null	Het
Snx5	A	G	2: 144,099,128 (GRCm39)		probably benign	Het
Srsf5	T	C	12: 80,994,298 (GRCm39)	S76P	probably benign	Het
Stard6	A	G	18: 70,629,186 (GRCm39)	D31G	probably damaging	Het
Taf3	A	G	2: 9,956,709 (GRCm39)	M333T	probably benign	Het
Taf6	T	G	5: 138,179,409 (GRCm39)	I377L	probably benign	Het
Taf8	G	T	17: 47,804,505 (GRCm39)	N252K	probably benign	Het
Tfap2c	A	G	2: 172,393,423 (GRCm39)	T113A	probably benign	Het
Tmtc4	C	T	14: 123,215,572 (GRCm39)	V25M	probably damaging	Het
Topbp1	T	A	9: 103,205,886 (GRCm39)	D841E	probably damaging	Het
Topbp1	T	A	9: 103,185,932 (GRCm39)		probably benign	Het
Ttn	A	T	2: 76,542,833 (GRCm39)	D33384E	probably damaging	Het
Unc13c	T	C	9: 73,838,067 (GRCm39)	E928G	probably benign	Het
Vav1	T	C	17: 57,603,090 (GRCm39)	F81L	probably damaging	Het
Vmn2r63	A	G	7: 42,553,042 (GRCm39)	I738T	probably damaging	Het
Vmn2r87	C	T	10: 130,315,806 (GRCm39)	E87K	probably damaging	Het
Zfp229	A	T	17: 21,964,822 (GRCm39)	M351L	probably benign	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
R0399:Atp5f1a	UTSW	18	77,869,536 (GRCm39)	nonsense	probably null
R0464:Atp5f1a	UTSW	18	77,867,622 (GRCm39)	missense	probably benign	0.04
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'- CTCAGATGCCATGAAGTACACCATCG -3'
(R):5'- TCATGCTTGTTAGTCTCAACTAGTGCC -3'

Sequencing Primer
(F):5'- TCTATGACGATCTATCCAAGCAGG -3'
(R):5'- GTCTCAACTAGTGCCTTAGAATAATC -3'

Posted On

2013-04-16