Mutagenetix > Incidental Mutation

Incidental Mutation 'R2102:Atp5f1a'

230637

Institutional Source

Beutler Lab

Gene Symbol

Atp5f1a

Ensembl Gene

ENSMUSG00000025428

Gene Name

ATP synthase F1 subunit alpha

Synonyms

Atp5a1, Atpm, D18Ertd206e, Mom2

MMRRC Submission

040106-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2102 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

77861468-77870569 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 77870017 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 533 (S533P)

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: S533P

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000026495
Gene: ENSMUSG00000025428
AA Change: S533P

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 damaging
Transcript: ENSMUST00000114748
AA Change: S483P

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000110396
Gene: ENSMUSG00000025428
AA Change: S483P

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	C	3: 137,770,934 (GRCm39)	L41P	probably damaging	Het
Abca8a	G	T	11: 109,958,878 (GRCm39)	P749T	probably damaging	Het
Acad8	A	T	9: 26,896,861 (GRCm39)	Y199*	probably null	Het
Acot12	A	T	13: 91,908,096 (GRCm39)	I93L	probably benign	Het
Acsbg3	T	A	17: 57,191,949 (GRCm39)	Y542*	probably null	Het
Actn1	C	A	12: 80,230,291 (GRCm39)	R321L	probably benign	Het
Ap3s1	A	G	18: 46,887,469 (GRCm39)	E34G	possibly damaging	Het
Armh4	A	G	14: 50,011,459 (GRCm39)	Y83H	probably damaging	Het
Bcorl1	T	C	X: 47,458,081 (GRCm39)	V538A	probably benign	Het
Cdhr4	A	G	9: 107,875,206 (GRCm39)	T689A	probably damaging	Het
Cdk19	A	T	10: 40,355,726 (GRCm39)		probably benign	Het
Cobll1	G	T	2: 64,928,554 (GRCm39)	P923Q	probably damaging	Het
Cpt1a	T	C	19: 3,421,585 (GRCm39)	S456P	probably benign	Het
Cst11	T	C	2: 148,613,160 (GRCm39)	Y55C	probably damaging	Het
Ctif	T	G	18: 75,654,452 (GRCm39)	D358A	probably benign	Het
Cyp2d34	T	G	15: 82,500,974 (GRCm39)	E386A	probably benign	Het
Dcxr	A	G	11: 120,617,133 (GRCm39)	F104L	probably benign	Het
Dmbt1	G	T	7: 130,703,762 (GRCm39)	W1107C	probably damaging	Het
Dsg1a	A	T	18: 20,466,830 (GRCm39)	I567F	probably damaging	Het
Ednrb	T	A	14: 104,058,350 (GRCm39)	R318*	probably null	Het
Exd2	T	C	12: 80,527,377 (GRCm39)	I36T	possibly damaging	Het
Fam83b	A	T	9: 76,399,987 (GRCm39)	I372N	probably damaging	Het
Fbh1	A	G	2: 11,763,100 (GRCm39)	V518A	probably benign	Het
Fkbp5	T	C	17: 28,625,162 (GRCm39)	E308G	possibly damaging	Het
Foxl2	A	C	9: 98,838,282 (GRCm39)	Y190S	probably damaging	Het
Gab3	TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	X: 74,043,585 (GRCm39)		probably benign	Het
Galnt17	C	T	5: 131,114,831 (GRCm39)	R223Q	probably damaging	Het
Gm14496	G	A	2: 181,633,127 (GRCm39)	D37N	possibly damaging	Het
Gpr82	T	C	X: 13,532,274 (GRCm39)	V274A	probably benign	Het
Hsp90aa1	T	C	12: 110,660,566 (GRCm39)	N292S	probably damaging	Het
Ints1	C	T	5: 139,741,754 (GRCm39)	V1826M	possibly damaging	Het
Itgb4	A	G	11: 115,896,561 (GRCm39)	D1440G	probably benign	Het
Kdm3b	A	G	18: 34,963,200 (GRCm39)	D1552G	probably damaging	Het
Kel	G	A	6: 41,663,418 (GRCm39)	T702I	possibly damaging	Het
Klf3	T	C	5: 64,979,266 (GRCm39)	V36A	probably damaging	Het
Klhl23	A	T	2: 69,659,228 (GRCm39)	I418F	probably damaging	Het
Kndc1	A	T	7: 139,510,674 (GRCm39)	I1329L	probably benign	Het
Krtap2-4	T	C	11: 99,505,606 (GRCm39)		probably benign	Het
Krtap9-5	T	A	11: 99,840,270 (GRCm39)	C324S	unknown	Het
Lepr	T	C	4: 101,630,178 (GRCm39)	V631A	possibly damaging	Het
Lifr	T	C	15: 7,216,404 (GRCm39)	I793T	probably damaging	Het
Mcoln1	G	A	8: 3,561,731 (GRCm39)	R427H	probably damaging	Het
Mgat5b	G	A	11: 116,810,255 (GRCm39)		probably benign	Het
Mmp12	G	A	9: 7,349,802 (GRCm39)	V78M	probably damaging	Het
Mrgprb8	T	A	7: 48,038,634 (GRCm39)	L102M	possibly damaging	Het
Mybphl	A	G	3: 108,282,949 (GRCm39)	T246A	possibly damaging	Het
Myo7b	A	T	18: 32,133,031 (GRCm39)	F439L	probably damaging	Het
Myom1	A	T	17: 71,408,024 (GRCm39)	D1088V	probably damaging	Het
Nrcam	T	C	12: 44,623,471 (GRCm39)	F1004S	probably benign	Het
Palld	A	T	8: 61,986,467 (GRCm39)	M788K	possibly damaging	Het
Pappa	T	A	4: 65,234,465 (GRCm39)	Y1423*	probably null	Het
Pfkm	A	G	15: 98,027,171 (GRCm39)	K615E	probably damaging	Het
Pkd1l2	G	T	8: 117,808,208 (GRCm39)	D105E	probably damaging	Het
Plekha5	G	A	6: 140,518,603 (GRCm39)	A297T	probably damaging	Het
Plxnb1	T	A	9: 108,944,810 (GRCm39)	M2051K	probably damaging	Het
Ppp6r2	A	G	15: 89,162,949 (GRCm39)	T524A	probably damaging	Het
Psg26	T	C	7: 18,209,067 (GRCm39)	E447G	probably damaging	Het
Rab3gap2	A	G	1: 185,014,586 (GRCm39)	D1225G	probably benign	Het
Rep15	A	G	6: 146,934,403 (GRCm39)		probably null	Het
Rgl2	G	A	17: 34,152,314 (GRCm39)		probably null	Het
Rpl7a	T	G	2: 26,801,473 (GRCm39)	V55G	possibly damaging	Het
Rtp1	A	T	16: 23,250,108 (GRCm39)	I158F	probably benign	Het
Scaper	A	T	9: 55,819,334 (GRCm39)	V127E	probably benign	Het
Sele	T	A	1: 163,881,395 (GRCm39)	C501S	probably damaging	Het
Serpina11	C	T	12: 103,949,104 (GRCm39)	V358I	probably benign	Het
Slc16a4	A	G	3: 107,211,819 (GRCm39)		probably null	Het
Slco6c1	T	C	1: 97,055,656 (GRCm39)	I82V	probably benign	Het
Smarca5	T	C	8: 81,431,304 (GRCm39)	E971G	probably damaging	Het
Smr2	T	C	5: 88,256,595 (GRCm39)	L91P	probably damaging	Het
Spata31f3	T	A	4: 42,868,558 (GRCm39)	H355L	probably benign	Het
Spopfm2	A	T	3: 94,082,973 (GRCm39)	C279*	probably null	Het
Srrm2	A	G	17: 24,036,722 (GRCm39)		probably benign	Het
Sting1	A	T	18: 35,868,290 (GRCm39)	M270K	probably damaging	Het
Syne1	A	G	10: 5,006,514 (GRCm39)	W7980R	probably damaging	Het
Syne2	A	G	12: 76,074,853 (GRCm39)	T4598A	probably benign	Het
Tmem171	A	T	13: 98,828,851 (GRCm39)	F100I	probably damaging	Het
Tnfrsf10b	A	G	14: 70,013,546 (GRCm39)	T159A	probably benign	Het
Tph1	A	T	7: 46,309,834 (GRCm39)		probably null	Het
Trim46	A	T	3: 89,142,504 (GRCm39)	I638N	probably damaging	Het
Ubl7	G	A	9: 57,827,825 (GRCm39)	D171N	probably damaging	Het
Utp20	A	G	10: 88,608,779 (GRCm39)	Y1514H	probably damaging	Het
Vmn2r81	A	G	10: 79,129,334 (GRCm39)	I742V	probably damaging	Het
Xrcc2	A	T	5: 25,897,505 (GRCm39)	V148E	probably damaging	Het
Zbed3	A	G	13: 95,472,615 (GRCm39)	D13G	possibly damaging	Het
Zdhhc25	T	A	15: 88,484,962 (GRCm39)	L99Q	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
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
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'- AGTCTTGCTTTCCCTGGAGG -3'
(R):5'- AATCCTGGTACACACCTGAGC -3'

Sequencing Primer
(F):5'- TGCTAGGATCACAGGTGTAAACTACC -3'
(R):5'- AGCACACAGTATGGAACTTTTATTC -3'

Posted On

2014-09-18