Mutagenetix > Incidental Mutation

Incidental Mutation 'R0399:Atp5f1a'

38088

Institutional Source

Beutler Lab

Gene Symbol

Atp5f1a

Ensembl Gene

ENSMUSG00000025428

Gene Name

ATP synthase F1 subunit alpha

Synonyms

Atp5a1, Atpm, D18Ertd206e, Mom2

MMRRC Submission

038604-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0399 (G1)

Quality Score

179

Status

Validated

Chromosome

Chromosomal Location

77861468-77870569 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 77869536 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 439 (Y439*)

Ref Sequence

ENSEMBL: ENSMUSP00000110396 (fasta)

Gene Model

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

AlphaFold

Q03265

Predicted Effect

probably null
Transcript: ENSMUST00000026495
AA Change: Y489*

SMART Domains

Protein: ENSMUSP00000026495
Gene: ENSMUSG00000025428
AA Change: Y489*

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 null
Transcript: ENSMUST00000114748
AA Change: Y439*

SMART Domains

Protein: ENSMUSP00000110396
Gene: ENSMUSG00000025428
AA Change: Y439*

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

unknown
Transcript: ENSMUST00000135678
AA Change: C83S

SMART Domains

Protein: ENSMUSP00000120436
Gene: ENSMUSG00000025428
AA Change: C83S

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

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.4%

Validation Efficiency

99% (71/72)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6030452D12Rik	T	C	8: 107,231,174 (GRCm39)	M120T	unknown	Het
Actr1a	A	T	19: 46,373,450 (GRCm39)		probably null	Het
Anapc5	A	T	5: 122,929,816 (GRCm39)	V555D	probably damaging	Het
Aox1	A	G	1: 58,108,008 (GRCm39)		probably null	Het
Arhgap30	A	G	1: 171,232,384 (GRCm39)	E343G	probably damaging	Het
Asap2	C	T	12: 21,267,998 (GRCm39)	T291I	possibly damaging	Het
Auts2	A	T	5: 131,469,362 (GRCm39)	S428T	probably benign	Het
B3gnt7	T	A	1: 86,233,433 (GRCm39)	C109*	probably null	Het
C4b	C	A	17: 34,947,843 (GRCm39)	Q1657H	probably damaging	Het
Cadm2	A	T	16: 66,544,225 (GRCm39)	L268*	probably null	Het
Cep290	G	A	10: 100,390,262 (GRCm39)		probably benign	Het
Cep68	T	G	11: 20,180,571 (GRCm39)	I687L	probably benign	Het
Chd6	T	A	2: 160,894,608 (GRCm39)	D84V	probably damaging	Het
Clpx	A	G	9: 65,230,051 (GRCm39)	T514A	probably benign	Het
Cox18	A	T	5: 90,362,887 (GRCm39)	C324S	probably benign	Het
Cryzl2	T	C	1: 157,289,586 (GRCm39)	Y75H	probably damaging	Het
Cxcr6	C	T	9: 123,640,016 (GRCm39)	A339V	possibly damaging	Het
Dock1	T	C	7: 134,765,171 (GRCm39)	L1721P	probably benign	Het
Dstyk	T	C	1: 132,380,818 (GRCm39)		probably benign	Het
Ecpas	T	C	4: 58,827,047 (GRCm39)	T1029A	possibly damaging	Het
Ehf	A	G	2: 103,097,215 (GRCm39)	Y246H	probably damaging	Het
Epas1	T	C	17: 87,112,621 (GRCm39)	V73A	probably benign	Het
Filip1	A	G	9: 79,725,592 (GRCm39)	I1009T	possibly damaging	Het
Glis3	A	T	19: 28,276,168 (GRCm39)		probably benign	Het
Gm17333	A	T	16: 77,649,678 (GRCm39)		noncoding transcript	Het
Gpc1	G	A	1: 92,785,031 (GRCm39)	R358H	possibly damaging	Het
Gpr155	A	T	2: 73,200,346 (GRCm39)	I387N	possibly damaging	Het
Gria1	A	G	11: 57,076,853 (GRCm39)	D83G	probably damaging	Het
Grid2	A	G	6: 64,643,036 (GRCm39)	I933V	probably benign	Het
Hhatl	C	T	9: 121,617,828 (GRCm39)	A254T	probably benign	Het
Hook2	A	G	8: 85,720,196 (GRCm39)		probably benign	Het
Ift140	T	A	17: 25,269,314 (GRCm39)	S656R	possibly damaging	Het
Il11ra1	A	T	4: 41,766,185 (GRCm39)	T241S	probably benign	Het
Kank1	A	G	19: 25,388,606 (GRCm39)	I760V	probably benign	Het
Kansl1	T	C	11: 104,314,958 (GRCm39)	E360G	possibly damaging	Het
Klf9	A	T	19: 23,119,446 (GRCm39)	S110C	probably damaging	Het
Klhl31	A	G	9: 77,557,935 (GRCm39)	N217S	probably benign	Het
Lct	T	C	1: 128,228,262 (GRCm39)	Y1077C	probably damaging	Het
Lrrc49	A	T	9: 60,517,529 (GRCm39)		probably benign	Het
Lrrn1	T	A	6: 107,546,081 (GRCm39)	H626Q	probably benign	Het
Mmp28	A	T	11: 83,342,558 (GRCm39)	L40Q	probably damaging	Het
Mroh1	C	T	15: 76,336,299 (GRCm39)	A1530V	probably benign	Het
Myo1e	A	G	9: 70,209,075 (GRCm39)		probably benign	Het
Naa25	A	T	5: 121,573,553 (GRCm39)	M761L	probably benign	Het
Ncln	G	A	10: 81,324,131 (GRCm39)	A465V	probably damaging	Het
Nktr	A	G	9: 121,560,550 (GRCm39)	N98S	probably damaging	Het
Or52h9	T	A	7: 104,202,576 (GRCm39)	V150E	probably benign	Het
Or5a1	G	C	19: 12,097,734 (GRCm39)	A114G	possibly damaging	Het
Or6d15	C	A	6: 116,559,742 (GRCm39)	S55I	probably benign	Het
Or8b4	G	T	9: 37,830,849 (GRCm39)	A304S	possibly damaging	Het
Or9g3	T	C	2: 85,590,248 (GRCm39)	I157M	possibly damaging	Het
Pacsin2	T	C	15: 83,270,983 (GRCm39)	Y222C	probably damaging	Het
Pcdhb15	C	T	18: 37,607,221 (GRCm39)	T151M	possibly damaging	Het
Plcz1	C	A	6: 139,968,956 (GRCm39)	V161L	possibly damaging	Het
Ppp6c	G	A	2: 39,090,136 (GRCm39)		probably benign	Het
Relch	A	G	1: 105,678,684 (GRCm39)		probably benign	Het
Rhbdf2	T	A	11: 116,494,818 (GRCm39)	Y286F	probably benign	Het
Rtn3	A	T	19: 7,435,241 (GRCm39)	D231E	probably damaging	Het
Slc35c2	A	C	2: 165,122,815 (GRCm39)	Y156*	probably null	Het
Spata46	A	G	1: 170,139,106 (GRCm39)	D35G	probably damaging	Het
Tmed3	A	G	9: 89,584,926 (GRCm39)	F110L	possibly damaging	Het
Tmem104	T	G	11: 115,092,134 (GRCm39)		probably benign	Het
Tpbg	T	A	9: 85,726,991 (GRCm39)	V320E	possibly damaging	Het
Trib2	T	C	12: 15,843,664 (GRCm39)	D190G	probably damaging	Het
Tspan2	A	G	3: 102,666,701 (GRCm39)	T26A	probably damaging	Het
Usp17lb	A	C	7: 104,490,358 (GRCm39)	Y190D	possibly damaging	Het
Utp18	C	T	11: 93,770,973 (GRCm39)		probably benign	Het
Utp20	A	T	10: 88,656,841 (GRCm39)	D121E	probably damaging	Het
Vmn1r80	T	A	7: 11,927,244 (GRCm39)	M118K	possibly damaging	Het
Vmn1r84	T	C	7: 12,095,794 (GRCm39)	S300G	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
R0344:Atp5f1a	UTSW	18	77,867,895 (GRCm39)	missense	probably damaging	0.96
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'- TGTGTAACACTGCCAGGGCATAAG -3'
(R):5'- ACTCGTGCAAATGACCCGAGTAAAG -3'

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

Posted On

2013-05-23