Mutagenetix > Incidental Mutation

Incidental Mutation 'R1763:Atp5f1'

193176

Institutional Source

Beutler Lab

Gene Symbol

Atp5f1

Ensembl Gene

ENSMUSG00000000563

Gene Name

ATP synthase, H+ transporting, mitochondrial F0 complex, subunit B1

Synonyms

C76477

MMRRC Submission

039795-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1763 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

105942698-105960099 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 105951589 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000118209] [ENSMUST00000133320]

AlphaFold

Q9CQQ7

Predicted Effect

probably null
Transcript: ENSMUST00000118209

SMART Domains

Protein: ENSMUSP00000113022
Gene: ENSMUSG00000000563

Domain	Start	End	E-Value	Type
Pfam:Mt_ATP-synt_B	83	244	2.5e-45	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000133320

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143022

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153666

Predicted Effect

probably null
Transcript: ENSMUST00000199311

Predicted Effect

probably null
Transcript: ENSMUST00000199311

Meta Mutation Damage Score

0.9492

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 92.0%

Validation Efficiency

98% (85/87)

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, utilizing 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 seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the b subunit of the proton channel. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	G	A	3: 122,110,681 (GRCm38)	V794M	probably benign	Het
Abca4	A	T	3: 122,163,830 (GRCm38)	T772S	probably damaging	Het
Acox3	G	A	5: 35,608,339 (GRCm38)		probably null	Het
Adamts17	A	G	7: 67,147,715 (GRCm38)	N1060S	probably damaging	Het
Akap8l	C	T	17: 32,332,483 (GRCm38)	R511H	probably damaging	Het
Als2	T	C	1: 59,174,991 (GRCm38)	Y1346C	probably benign	Het
Apol10b	A	T	15: 77,585,015 (GRCm38)	F321I	probably benign	Het
Bloc1s5	A	G	13: 38,619,084 (GRCm38)		probably benign	Het
Btbd9	T	C	17: 30,334,297 (GRCm38)	N397S	possibly damaging	Het
Cacna1d	A	G	14: 30,099,196 (GRCm38)	V1121A	probably benign	Het
Cad	G	A	5: 31,060,951 (GRCm38)	V460I	probably damaging	Het
Caprin2	A	T	6: 148,843,121 (GRCm38)	D935E	probably damaging	Het
Ccdc150	A	T	1: 54,354,636 (GRCm38)	K686N	probably benign	Het
Ccnt2	T	C	1: 127,799,406 (GRCm38)	F186L	possibly damaging	Het
Cd5l	G	A	3: 87,367,880 (GRCm38)		probably null	Het
Chrna7	A	G	7: 63,099,252 (GRCm38)	V494A	probably benign	Het
Clec2i	T	G	6: 128,895,425 (GRCm38)	Y198*	probably null	Het
Col22a1	A	G	15: 72,007,176 (GRCm38)	V44A	probably damaging	Het
Cspg4	T	A	9: 56,886,979 (GRCm38)	I666N	probably damaging	Het
Cyp3a16	A	T	5: 145,465,031 (GRCm38)		probably null	Het
Dlk1	G	T	12: 109,458,119 (GRCm38)	C102F	probably damaging	Het
Dscc1	CTGAATGAAT	CTGAAT	15: 55,080,176 (GRCm38)		probably benign	Het
Dscc1	T	A	15: 55,084,139 (GRCm38)	H215L	probably damaging	Het
Dus1l	C	G	11: 120,795,671 (GRCm38)	G15R	probably benign	Het
Eps8l1	G	T	7: 4,471,823 (GRCm38)	V268L	probably benign	Het
F2	A	C	2: 91,634,906 (GRCm38)	C104W	probably damaging	Het
F5	C	A	1: 164,192,535 (GRCm38)	Q860K	probably benign	Het
Fmn2	T	C	1: 174,502,266 (GRCm38)	L74P	unknown	Het
Frmd6	G	A	12: 70,893,622 (GRCm38)	R347Q	possibly damaging	Het
Gabbr1	T	G	17: 37,054,767 (GRCm38)	S158A	probably damaging	Het
Galc	T	C	12: 98,234,266 (GRCm38)	N295S	probably damaging	Het
Gm436	A	G	4: 144,669,959 (GRCm38)	V401A	probably benign	Het
Gm6408	A	T	5: 146,482,322 (GRCm38)	N49I	probably damaging	Het
Grm1	T	A	10: 11,079,866 (GRCm38)	T225S	possibly damaging	Het
Grm8	C	T	6: 27,285,867 (GRCm38)	V849I	possibly damaging	Het
Hmcn2	A	G	2: 31,314,590 (GRCm38)	D59G	probably damaging	Het
Iars	G	A	13: 49,723,077 (GRCm38)		probably null	Het
Ifi27	C	T	12: 103,437,682 (GRCm38)	A127V	possibly damaging	Het
Ikbip	A	G	10: 91,096,481 (GRCm38)	N329S	probably damaging	Het
Ikbke	T	C	1: 131,265,877 (GRCm38)	T479A	probably benign	Het
Krt12	T	A	11: 99,416,060 (GRCm38)	N472I	probably damaging	Het
Lmnb2	A	T	10: 80,907,191 (GRCm38)	L193Q	probably damaging	Het
Lrriq4	T	C	3: 30,650,252 (GRCm38)	V128A	probably benign	Het
Map4k4	C	A	1: 40,000,757 (GRCm38)		probably benign	Het
Mtmr7	T	C	8: 40,551,811 (GRCm38)	T575A	probably benign	Het
Myh13	G	A	11: 67,334,576 (GRCm38)	A256T	probably benign	Het
Napepld	A	G	5: 21,683,410 (GRCm38)	Y14H	probably benign	Het
Npr1	T	C	3: 90,459,337 (GRCm38)	T552A	probably damaging	Het
Nudt15	A	G	14: 73,521,647 (GRCm38)	F127S	probably benign	Het
Nwd2	T	A	5: 63,808,271 (GRCm38)	S1733T	probably benign	Het
Olfr1189	A	G	2: 88,592,436 (GRCm38)	I211V	probably benign	Het
Olfr1257	G	A	2: 89,881,129 (GRCm38)	G101E	probably damaging	Het
Olfr1348	T	G	7: 6,501,441 (GRCm38)	I262L	probably benign	Het
Olfr907	A	G	9: 38,499,038 (GRCm38)	Y123C	probably damaging	Het
Olfr96	T	C	17: 37,225,430 (GRCm38)	F102L	probably benign	Het
Paqr7	A	T	4: 134,507,098 (GRCm38)	I89F	probably benign	Het
Pidd1	C	A	7: 141,439,630 (GRCm38)	V706L	probably benign	Het
Polr3c	A	T	3: 96,713,595 (GRCm38)	I469N	probably damaging	Het
Ppip5k1	A	G	2: 121,348,547 (GRCm38)	Y233H	probably damaging	Het
Psmc3	A	G	2: 91,055,995 (GRCm38)	T166A	possibly damaging	Het
Ptchd3	A	T	11: 121,842,542 (GRCm38)	I753L	probably benign	Het
Rad21	T	C	15: 51,978,170 (GRCm38)	K50R	probably damaging	Het
Rad54b	A	G	4: 11,604,989 (GRCm38)	E479G	possibly damaging	Het
Rfwd3	C	T	8: 111,288,242 (GRCm38)	R326Q	probably damaging	Het
Rgs20	C	T	1: 4,910,640 (GRCm38)	R154Q	probably damaging	Het
Sbf1	T	C	15: 89,294,425 (GRCm38)	D1449G	probably damaging	Het
Sema4g	C	T	19: 45,001,605 (GRCm38)	R708*	probably null	Het
Sept9	T	C	11: 117,290,428 (GRCm38)	I18T	probably benign	Het
Serpinb6b	A	G	13: 32,978,058 (GRCm38)	E280G	probably damaging	Het
Slamf6	T	C	1: 171,942,587 (GRCm38)		probably benign	Het
Slc6a21	G	A	7: 45,287,734 (GRCm38)	W554*	probably null	Het
Slco1a4	A	C	6: 141,812,731 (GRCm38)	I518R	probably benign	Het
Stab1	T	A	14: 31,168,416 (GRCm38)	Q26L	probably benign	Het
Stox1	A	G	10: 62,667,965 (GRCm38)	F104L	probably damaging	Het
Suco	T	C	1: 161,834,949 (GRCm38)	K638E	possibly damaging	Het
Synpo	T	C	18: 60,602,784 (GRCm38)	K458E	probably damaging	Het
Szt2	A	T	4: 118,372,368 (GRCm38)	W2820R	unknown	Het
Tmtc1	C	A	6: 148,294,618 (GRCm38)	G499W	probably damaging	Het
Tonsl	A	C	15: 76,638,066 (GRCm38)	S242R	probably damaging	Het
Trpc4	G	T	3: 54,194,822 (GRCm38)	S47I	possibly damaging	Het
Zfp106	G	A	2: 120,520,428 (GRCm38)	R1581C	probably benign	Het
Zfp27	A	G	7: 29,895,376 (GRCm38)	L388P	possibly damaging	Het

Other mutations in Atp5f1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1018:Atp5f1	UTSW	3	105,954,172 (GRCm38)	missense	possibly damaging	0.77
R2045:Atp5f1	UTSW	3	105,943,874 (GRCm38)	intron	probably benign
R5213:Atp5f1	UTSW	3	105,955,911 (GRCm38)	nonsense	probably null
R7051:Atp5f1	UTSW	3	105,943,767 (GRCm38)	missense	probably benign	0.07
R7426:Atp5f1	UTSW	3	105,943,802 (GRCm38)	missense	probably benign	0.11
R7812:Atp5f1	UTSW	3	105,943,841 (GRCm38)	missense	probably benign	0.10
R7896:Atp5f1	UTSW	3	105,955,943 (GRCm38)	missense	probably damaging	1.00
R8218:Atp5f1	UTSW	3	105,959,186 (GRCm38)	start codon destroyed	probably null	1.00
R9668:Atp5f1	UTSW	3	105,956,040 (GRCm38)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CACAAAGTAACTACACGATCTGTTGAGGTAA -3'
(R):5'- GGAATAAAACTGAGGGAGCATTAAAATGACTG -3'

Sequencing Primer
(F):5'- aatcaagggcagacatggag -3'
(R):5'- GGGAGCATTAAAATGACTGTTCTTG -3'

Posted On

2014-05-23