Mutagenetix > Incidental Mutation

Incidental Mutation 'R0308:Atp5f1b'

24986

Institutional Source

Beutler Lab

Gene Symbol

Atp5f1b

Ensembl Gene

ENSMUSG00000025393

Gene Name

ATP synthase F1 subunit beta

Synonyms

Atp5b

MMRRC Submission

038518-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0308 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

127919176-127926257 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 127921908 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 265 (V265A)

Ref Sequence

ENSEMBL: ENSMUSP00000026459 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026459]

AlphaFold

P56480

Predicted Effect

probably benign
Transcript: ENSMUST00000026459
AA Change: V265A

PolyPhen 2 Score 0.111 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000026459
Gene: ENSMUSG00000025393
AA Change: V265A

Domain	Start	End	E-Value	Type
low complexity region	2	38	N/A	INTRINSIC
Pfam:ATP-synt_ab_N	63	129	2.9e-23	PFAM
AAA	198	382	1.5e-6	SMART
Pfam:ATP-synt_ab_C	418	527	2.5e-27	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000082844

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123803

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124993

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125992

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126040

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126751

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127439

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175504

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197076

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144918

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139295

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217728

Meta Mutation Damage Score

0.1708

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 95.1%
20x: 89.5%

Validation Efficiency

100% (82/82)

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, 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 consists of three main subunits (a, b, c). This gene encodes the beta subunit of the catalytic core. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700009N14Rik	A	T	4: 39,450,989 (GRCm39)	D65V	probably damaging	Het
4933407L21Rik	A	T	1: 85,859,007 (GRCm39)		probably benign	Het
Abcc12	C	T	8: 87,284,381 (GRCm39)		probably benign	Het
Adamts12	A	G	15: 11,311,646 (GRCm39)	E1301G	probably damaging	Het
Adh4	A	T	3: 138,129,863 (GRCm39)	N230Y	probably damaging	Het
Anapc15-ps	T	A	10: 95,508,954 (GRCm39)	M109L	probably benign	Het
Angpt2	T	C	8: 18,742,141 (GRCm39)	I472V	possibly damaging	Het
Arhgef26	C	A	3: 62,247,820 (GRCm39)	D301E	probably benign	Het
Armc10	G	A	5: 21,852,295 (GRCm39)		probably benign	Het
Atm	T	C	9: 53,365,773 (GRCm39)		probably null	Het
Atp8b1	G	T	18: 64,678,315 (GRCm39)	C860*	probably null	Het
Atrnl1	T	G	19: 57,741,720 (GRCm39)	S1160A	probably benign	Het
Bmal1	A	T	7: 112,890,743 (GRCm39)	I179F	probably damaging	Het
Cep55	A	G	19: 38,048,659 (GRCm39)	E105G	possibly damaging	Het
Cfap54	C	A	10: 92,721,226 (GRCm39)	D2502Y	unknown	Het
Cilp2	A	G	8: 70,335,643 (GRCm39)	S452P	probably benign	Het
Clptm1l	A	G	13: 73,759,786 (GRCm39)	D282G	possibly damaging	Het
Csrp1	C	A	1: 135,673,024 (GRCm39)	T47N	probably damaging	Het
Cyp2c40	T	A	19: 39,766,432 (GRCm39)	I388F	probably damaging	Het
Dars1	C	T	1: 128,291,996 (GRCm39)	R494H	probably damaging	Het
Dna2	T	C	10: 62,792,753 (GRCm39)	V256A	probably damaging	Het
Dock7	T	C	4: 98,873,051 (GRCm39)	T1132A	probably benign	Het
Dpcd	T	G	19: 45,565,445 (GRCm39)	F140V	probably damaging	Het
Elk3	A	T	10: 93,101,067 (GRCm39)	M228K	probably benign	Het
Erich6	A	G	3: 58,543,525 (GRCm39)	F182L	probably damaging	Het
Fhad1	A	G	4: 141,712,904 (GRCm39)		probably benign	Het
Fryl	A	T	5: 73,198,947 (GRCm39)		probably benign	Het
Fzd9	A	T	5: 135,278,260 (GRCm39)	C542S	probably damaging	Het
Gba1	A	G	3: 89,115,671 (GRCm39)	T460A	probably benign	Het
Gli2	C	T	1: 118,769,792 (GRCm39)	A587T	probably benign	Het
Gm11011	C	T	2: 169,424,614 (GRCm39)		probably benign	Het
Gmppb	A	G	9: 107,927,033 (GRCm39)	E68G	probably benign	Het
Gpld1	A	G	13: 25,146,818 (GRCm39)	N260S	possibly damaging	Het
Hipk3	G	A	2: 104,263,552 (GRCm39)	S900L	probably damaging	Het
Idi2l	T	G	13: 8,990,877 (GRCm39)		probably benign	Het
Ints6l	A	T	X: 55,526,715 (GRCm39)	M215L	possibly damaging	Het
Irx6	T	A	8: 93,403,659 (GRCm39)	L128Q	probably damaging	Het
Itga10	T	C	3: 96,558,780 (GRCm39)	S373P	probably damaging	Het
Jak1	T	C	4: 101,011,732 (GRCm39)		probably null	Het
Jak2	C	T	19: 29,289,157 (GRCm39)	T1103I	probably benign	Het
Katnal1	A	T	5: 148,815,734 (GRCm39)	V401D	possibly damaging	Het
Krbox5	A	G	13: 67,991,232 (GRCm39)		probably benign	Het
Lrp2	T	A	2: 69,313,326 (GRCm39)		probably benign	Het
Map3k13	A	G	16: 21,710,738 (GRCm39)	H7R	probably benign	Het
Mrgprx3-ps	A	G	7: 46,959,766 (GRCm39)	V75A	probably benign	Het
Nol6	C	T	4: 41,123,584 (GRCm39)	A55T	probably benign	Het
Opa1	G	A	16: 29,440,349 (GRCm39)	R818Q	probably damaging	Het
Opn4	T	C	14: 34,319,081 (GRCm39)	Y168C	possibly damaging	Het
Or8b35	A	G	9: 37,904,141 (GRCm39)	I118V	probably benign	Het
Phf21a	T	C	2: 92,161,122 (GRCm39)	V330A	possibly damaging	Het
Phykpl	A	G	11: 51,484,423 (GRCm39)		probably benign	Het
Plcb1	T	G	2: 134,655,534 (GRCm39)	V38G	probably benign	Het
Plxna4	T	A	6: 32,214,703 (GRCm39)	T593S	probably benign	Het
Poll	A	T	19: 45,544,404 (GRCm39)	I339N	probably damaging	Het
Rev3l	A	G	10: 39,700,890 (GRCm39)	I1796V	probably benign	Het
Rnf103	G	A	6: 71,486,686 (GRCm39)	R439H	probably damaging	Het
Rrn3	G	A	16: 13,617,746 (GRCm39)		probably benign	Het
Sec14l4	G	A	11: 3,991,726 (GRCm39)		probably benign	Het
Sec23a	A	C	12: 59,053,985 (GRCm39)	Y4*	probably null	Het
Senp6	T	C	9: 80,040,265 (GRCm39)		probably null	Het
Serpinb6b	A	T	13: 33,162,220 (GRCm39)	N221Y	probably benign	Het
Slc6a2	A	G	8: 93,687,988 (GRCm39)	E38G	possibly damaging	Het
Smap1	A	T	1: 23,888,423 (GRCm39)	L196I	probably damaging	Het
Sorbs2	C	T	8: 46,248,167 (GRCm39)	Q473*	probably null	Het
Sphkap	C	A	1: 83,254,690 (GRCm39)	V1020F	probably damaging	Het
Srfbp1	T	C	18: 52,621,614 (GRCm39)	V225A	probably benign	Het
Srprb	G	A	9: 103,079,204 (GRCm39)	P728S	possibly damaging	Het
Tarm1	T	C	7: 3,545,187 (GRCm39)		probably benign	Het
Tcp1	T	A	17: 13,139,306 (GRCm39)	I162N	probably benign	Het
Tmem237	C	A	1: 59,146,676 (GRCm39)	A292S	probably damaging	Het
Tnfrsf21	C	T	17: 43,349,104 (GRCm39)	H239Y	probably benign	Het
Tnpo1	A	G	13: 98,983,011 (GRCm39)	F884L	probably damaging	Het
Trim7	A	G	11: 48,740,328 (GRCm39)	T142A	probably damaging	Het
Ttn	T	A	2: 76,616,024 (GRCm39)	I14894F	probably damaging	Het
Tubgcp6	T	C	15: 89,006,639 (GRCm39)	R128G	possibly damaging	Het
Ube2d2b	A	G	5: 107,978,774 (GRCm39)	T142A	possibly damaging	Het
Unc13c	G	T	9: 73,388,400 (GRCm39)	L2129I	probably benign	Het
Ushbp1	T	C	8: 71,843,697 (GRCm39)	D247G	probably damaging	Het
Usp43	G	A	11: 67,770,966 (GRCm39)	A556V	probably damaging	Het
Zfp438	T	A	18: 5,213,638 (GRCm39)	H440L	probably benign	Het
Zfp518b	C	T	5: 38,830,113 (GRCm39)	E631K	possibly damaging	Het

Other mutations in Atp5f1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02316:Atp5f1b	APN	10	127,920,178 (GRCm39)	missense	probably benign	0.42
IGL02819:Atp5f1b	APN	10	127,919,821 (GRCm39)	missense	probably damaging	0.99
R0496:Atp5f1b	UTSW	10	127,922,043 (GRCm39)	missense	possibly damaging	0.60
R1052:Atp5f1b	UTSW	10	127,925,921 (GRCm39)	missense	probably damaging	1.00
R1418:Atp5f1b	UTSW	10	127,919,167 (GRCm39)	start gained	probably benign
R1764:Atp5f1b	UTSW	10	127,919,949 (GRCm39)	splice site	probably benign
R4968:Atp5f1b	UTSW	10	127,919,856 (GRCm39)	missense	probably damaging	1.00
R5092:Atp5f1b	UTSW	10	127,919,854 (GRCm39)	missense	probably benign	0.09
R5807:Atp5f1b	UTSW	10	127,924,431 (GRCm39)	unclassified	probably benign
R7296:Atp5f1b	UTSW	10	127,921,391 (GRCm39)	missense	probably benign	0.18
R8008:Atp5f1b	UTSW	10	127,919,277 (GRCm39)	missense	unknown
R8238:Atp5f1b	UTSW	10	127,921,019 (GRCm39)	missense	possibly damaging	0.75
R8711:Atp5f1b	UTSW	10	127,921,369 (GRCm39)	missense	probably damaging	1.00
R8932:Atp5f1b	UTSW	10	127,924,850 (GRCm39)	missense	probably benign	0.04
R9039:Atp5f1b	UTSW	10	127,919,767 (GRCm39)	missense	probably benign
X0057:Atp5f1b	UTSW	10	127,925,983 (GRCm39)	missense	possibly damaging	0.83

Predicted Primers

PCR Primer
(F):5'- GGACCCGTGAGGGCAATGATTTATAC -3'
(R):5'- TCTTCTAATATGCCCAACTGGCTCAAC -3'

Sequencing Primer
(F):5'- ATGCCACTTCCAAGGTGAG -3'
(R):5'- TGGCTCAACAAACCAGGC -3'

Posted On

2013-04-16