Mutagenetix > Incidental Mutation

Incidental Mutation 'R1476:Atp5f1a'

164103

Institutional Source

Beutler Lab

Gene Symbol

Atp5f1a

Ensembl Gene

ENSMUSG00000025428

Gene Name

ATP synthase F1 subunit alpha

Synonyms

Atp5a1, Atpm, D18Ertd206e, Mom2

MMRRC Submission

039529-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1476 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

77861468-77870569 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 77869625 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 519 (H519R)

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: H519R

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000026495
Gene: ENSMUSG00000025428
AA Change: H519R

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: H469R

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

SMART Domains

Protein: ENSMUSP00000110396
Gene: ENSMUSG00000025428
AA Change: H469R

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

0.3157

Coding Region Coverage

1x: 99.3%
3x: 98.4%
10x: 96.5%
20x: 93.1%

Validation Efficiency

95% (80/84)

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
2310033P09Rik	A	G	11: 59,099,528 (GRCm39)		probably benign	Het
A730015C16Rik	G	A	4: 108,705,205 (GRCm39)	V40M	probably damaging	Het
Abcg2	A	G	6: 58,655,322 (GRCm39)	D419G	probably benign	Het
Adamts17	A	C	7: 66,725,091 (GRCm39)	E777A	probably damaging	Het
Ak1	A	G	2: 32,523,478 (GRCm39)	K166R	probably benign	Het
Ankrd12	T	C	17: 66,293,300 (GRCm39)	K711R	probably damaging	Het
Ate1	A	T	7: 130,020,301 (GRCm39)		probably null	Het
Best1	G	T	19: 9,967,853 (GRCm39)	Y284*	probably null	Het
C2cd6	A	G	1: 59,115,887 (GRCm39)		probably benign	Het
Casz1	G	T	4: 149,030,628 (GRCm39)	V1216L	probably benign	Het
Cdc42bpg	A	G	19: 6,363,812 (GRCm39)	D493G	probably damaging	Het
Ces2f	A	G	8: 105,679,134 (GRCm39)	D317G	possibly damaging	Het
Chst15	A	T	7: 131,872,002 (GRCm39)	M93K	possibly damaging	Het
Cntnap5a	T	C	1: 115,828,750 (GRCm39)	L58P	probably damaging	Het
Crip3	T	C	17: 46,741,702 (GRCm39)		probably benign	Het
Csmd2	G	A	4: 128,380,794 (GRCm39)	E2117K	probably benign	Het
Cstf3	A	G	2: 104,478,564 (GRCm39)	D212G	possibly damaging	Het
Cttnbp2	T	C	6: 18,434,220 (GRCm39)	K546R	probably damaging	Het
Cubn	A	G	2: 13,480,931 (GRCm39)	I308T	probably benign	Het
Cxcl9	T	A	5: 92,472,972 (GRCm39)	D75V	probably damaging	Het
Dcdc5	C	T	2: 106,188,977 (GRCm39)		noncoding transcript	Het
Defa30	C	A	8: 21,624,752 (GRCm39)	T25K	possibly damaging	Het
Dock7	A	T	4: 98,967,672 (GRCm39)	H239Q	possibly damaging	Het
Dpp4	A	G	2: 62,178,245 (GRCm39)	V629A	possibly damaging	Het
Fam83a	T	C	15: 57,873,341 (GRCm39)	M390T	probably benign	Het
Fem1c	A	G	18: 46,657,552 (GRCm39)	L54P	probably damaging	Het
Fntb	T	A	12: 76,957,007 (GRCm39)	M282K	probably benign	Het
Galnt2l	A	G	8: 122,996,323 (GRCm39)		probably benign	Het
Gm11099	G	A	2: 58,749,482 (GRCm39)		probably benign	Het
Gm1527	T	C	3: 28,980,705 (GRCm39)	S602P	probably benign	Het
Gm5478	T	A	15: 101,553,080 (GRCm39)	I331F	probably damaging	Het
Gm7853	C	A	14: 35,811,540 (GRCm39)		noncoding transcript	Het
Gsta2	A	T	9: 78,249,147 (GRCm39)	C18S	probably benign	Het
H1f8	T	C	6: 115,924,701 (GRCm39)	V69A	possibly damaging	Het
Hecw1	T	C	13: 14,480,671 (GRCm39)	E465G	probably damaging	Het
Herc1	A	G	9: 66,415,548 (GRCm39)	D4841G	probably damaging	Het
Hus1b	A	G	13: 31,130,984 (GRCm39)	V225A	probably benign	Het
Keg1	A	T	19: 12,693,387 (GRCm39)	M137L	probably benign	Het
Kmt2a	C	T	9: 44,735,932 (GRCm39)		probably benign	Het
Megf6	G	T	4: 154,261,578 (GRCm39)	V68L	probably benign	Het
Mga	T	A	2: 119,772,156 (GRCm39)	V1672E	probably damaging	Het
Mios	T	C	6: 8,234,237 (GRCm39)	S803P	probably benign	Het
Mrtfa	T	C	15: 80,902,409 (GRCm39)		probably benign	Het
Msh4	A	T	3: 153,569,021 (GRCm39)	Y851N	probably damaging	Het
Mybl1	A	C	1: 9,742,886 (GRCm39)		probably null	Het
Myo5c	A	G	9: 75,183,221 (GRCm39)	Y865C	probably damaging	Het
Naip1	T	C	13: 100,563,378 (GRCm39)	S596G	probably benign	Het
Nek5	G	T	8: 22,586,747 (GRCm39)	Q355K	possibly damaging	Het
Nphp3	G	T	9: 103,903,126 (GRCm39)	R701L	possibly damaging	Het
Or52n2	A	T	7: 104,542,444 (GRCm39)	Y130*	probably null	Het
Or5j3	T	C	2: 86,128,823 (GRCm39)	I221T	probably damaging	Het
Or5m10	T	A	2: 85,717,592 (GRCm39)	Y149*	probably null	Het
Or5t9	T	C	2: 86,659,542 (GRCm39)	S149P	probably benign	Het
Or9g4	T	A	2: 85,505,262 (GRCm39)	T78S	possibly damaging	Het
Palm	A	G	10: 79,651,021 (GRCm39)	N149D	possibly damaging	Het
Pot1b	T	C	17: 55,960,451 (GRCm39)	I626M	possibly damaging	Het
Ptprt	T	A	2: 161,769,404 (GRCm39)	D487V	probably damaging	Het
Qpct	A	G	17: 79,378,201 (GRCm39)	I124V	probably benign	Het
Rbm12b1	T	A	4: 12,145,817 (GRCm39)	D596E	possibly damaging	Het
Rnf157	A	G	11: 116,245,585 (GRCm39)	C277R	probably damaging	Het
Rnf169	A	G	7: 99,574,535 (GRCm39)	S687P	possibly damaging	Het
Sfxn1	T	A	13: 54,246,469 (GRCm39)		probably null	Het
Slc6a21	T	C	7: 44,922,052 (GRCm39)	V649A	probably benign	Het
Slit3	A	T	11: 35,577,126 (GRCm39)	T1120S	probably damaging	Het
Spem2	A	T	11: 69,708,896 (GRCm39)	M58K	probably benign	Het
Sprr2k	T	A	3: 92,340,703 (GRCm39)		probably benign	Het
Sspo	T	C	6: 48,440,334 (GRCm39)		probably null	Het
Sv2b	A	T	7: 74,769,791 (GRCm39)	F584I	possibly damaging	Het
Tkfc	A	T	19: 10,572,690 (GRCm39)	M317K	probably null	Het
Tnni3k	C	T	3: 154,735,942 (GRCm39)	G134S	probably benign	Het
Ttn	C	T	2: 76,570,124 (GRCm39)	R26923H	probably damaging	Het
Tuba3b	T	C	6: 145,564,179 (GRCm39)	V75A	possibly damaging	Het
Unc79	T	C	12: 103,149,784 (GRCm39)	L2626P	probably damaging	Het
Usp24	A	T	4: 106,219,130 (GRCm39)	I491F	probably damaging	Het
V1ra8	A	T	6: 90,180,132 (GRCm39)	I112F	probably damaging	Het
Vmn1r29	T	G	6: 58,284,663 (GRCm39)	F128V	probably benign	Het
Wdr87-ps	A	G	7: 29,234,315 (GRCm39)		noncoding transcript	Het
Zfp157	T	A	5: 138,453,357 (GRCm39)		probably null	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
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
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'- TGTGTAACACTGCCAGGGCATAAG -3'
(R):5'- ACTCGTGCAAATGACCCGAGTAAAG -3'

Sequencing Primer
(F):5'- TTATAGGCTGTACCCAAAGGTCAC -3'
(R):5'- aggactgccaaatactgagaac -3'

Posted On

2014-03-28