Mutagenetix > Incidental Mutation

Incidental Mutation 'R8008:Atp5f1b'

616752

Institutional Source

Beutler Lab

Gene Symbol

Atp5f1b

Ensembl Gene

ENSMUSG00000025393

Gene Name

ATP synthase F1 subunit beta

Synonyms

Atp5b

MMRRC Submission

046048-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8008 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

127919176-127926257 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 127919277 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 28 (Q28K)

Ref Sequence

ENSEMBL: ENSMUSP00000026459 (fasta)

Gene Model

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

AlphaFold

P56480

Predicted Effect

unknown
Transcript: ENSMUST00000026459
AA Change: Q28K

SMART Domains

Protein: ENSMUSP00000026459
Gene: ENSMUSG00000025393
AA Change: Q28K

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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, 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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	T	13: 77,429,234 (GRCm39)	I774F	probably benign	Het
Alpi	A	G	1: 87,026,384 (GRCm39)	S536P	unknown	Het
Ankar	A	G	1: 72,705,643 (GRCm39)	V789A	possibly damaging	Het
Brpf1	T	C	6: 113,296,050 (GRCm39)	V781A	probably benign	Het
Cd177	G	A	7: 24,451,774 (GRCm39)	S414L	not run	Het
Cimip3	T	A	17: 47,747,661 (GRCm39)	E28V	probably damaging	Het
Clca3b	T	A	3: 144,550,370 (GRCm39)	T192S	probably benign	Het
Coro2a	A	T	4: 46,551,349 (GRCm39)	S119T	probably damaging	Het
Cpped1	T	C	16: 11,646,260 (GRCm39)	N164S	probably damaging	Het
Crybg2	T	A	4: 133,818,415 (GRCm39)	N1390K	probably damaging	Het
Epn2	C	T	11: 61,437,492 (GRCm39)	A27T	probably damaging	Het
Esp34	T	C	17: 38,870,490 (GRCm39)	F128S	possibly damaging	Het
Evpl	T	A	11: 116,121,298 (GRCm39)	N410Y	probably null	Het
Flnb	A	G	14: 7,892,155 (GRCm38)	Y608C	probably damaging	Het
Fpr3	T	C	17: 18,191,715 (GRCm39)	S329P	probably benign	Het
Frem2	T	A	3: 53,560,331 (GRCm39)	N1392I	probably damaging	Het
Garin2	T	A	12: 78,761,817 (GRCm39)	D160E	probably benign	Het
Gpi1	G	T	7: 33,917,726 (GRCm39)	N249K	probably damaging	Het
Gpr87	T	C	3: 59,087,466 (GRCm39)	N13S	probably benign	Het
Gys2	T	C	6: 142,400,243 (GRCm39)	T323A	probably damaging	Het
Iqgap3	T	C	3: 88,016,770 (GRCm39)	I1084T	probably damaging	Het
Lrfn4	C	G	19: 4,663,565 (GRCm39)	G323A	probably benign	Het
Lrrc4c	A	T	2: 97,460,594 (GRCm39)	S407C	possibly damaging	Het
Map3k20	A	T	2: 72,268,613 (GRCm39)	Q540L	probably benign	Het
Myom1	T	C	17: 71,407,057 (GRCm39)	V1158A	probably benign	Het
Ncor2	T	C	5: 125,144,983 (GRCm39)	D378G	unknown	Het
Nhsl1	T	A	10: 18,284,186 (GRCm39)	D42E	probably damaging	Het
Nr0b2	C	A	4: 133,283,339 (GRCm39)	A192E	probably benign	Het
Nt5c1b	A	G	12: 10,425,000 (GRCm39)	D182G	possibly damaging	Het
Or12d14-ps1	T	C	17: 37,673,265 (GRCm39)	S86P	probably damaging	Het
Or4c115	A	T	2: 88,928,059 (GRCm39)	C71S	probably benign	Het
Or5b119	T	C	19: 13,457,170 (GRCm39)	T131A	probably benign	Het
Or5k15	T	C	16: 58,710,251 (GRCm39)	T111A	probably benign	Het
Or8b12	A	T	9: 37,658,089 (GRCm39)	I220F	probably damaging	Het
Pepd	A	G	7: 34,721,126 (GRCm39)	N250S	probably benign	Het
Plscr4	C	T	9: 92,372,843 (GRCm39)	R322*	probably null	Het
Pmp22	C	T	11: 63,049,233 (GRCm39)	R159C	probably damaging	Het
Pou3f1	C	T	4: 124,552,764 (GRCm39)	A422V	unknown	Het
Rab11fip3	A	G	17: 26,286,956 (GRCm39)	L399P	probably damaging	Het
Rragc	A	G	4: 123,829,340 (GRCm39)	D352G	probably damaging	Het
Ryr2	A	G	13: 11,671,980 (GRCm39)	V3420A	probably benign	Het
Sez6	T	A	11: 77,864,082 (GRCm39)	Y521*	probably null	Het
Smc4	T	C	3: 68,914,645 (GRCm39)	V86A	probably damaging	Het
Stap2	T	A	17: 56,304,790 (GRCm39)	M331L	probably benign	Het
Syt8	G	A	7: 141,992,259 (GRCm39)	R89H	probably benign	Het
Tcof1	G	C	18: 60,962,123 (GRCm39)	A702G	possibly damaging	Het
Trim21	G	T	7: 102,209,183 (GRCm39)	T280K	probably benign	Het
Trim36	C	A	18: 46,305,556 (GRCm39)	V476F	probably benign	Het
Troap	G	T	15: 98,973,511 (GRCm39)	R56L	probably benign	Het
Ttn	A	T	2: 76,667,130 (GRCm39)	I11492K	unknown	Het
Tuft1	T	C	3: 94,521,440 (GRCm39)	T390A	probably damaging	Het
Ucp1	T	C	8: 84,020,640 (GRCm39)	I150T	probably benign	Het
Usp17lb	A	T	7: 104,490,481 (GRCm39)	C149S	possibly damaging	Het
Vmn1r159	A	T	7: 22,542,665 (GRCm39)	N122K	possibly damaging	Het
Vmn1r237	T	C	17: 21,534,456 (GRCm39)	C60R	probably damaging	Het
Wdr12	A	T	1: 60,128,494 (GRCm39)	Y85*	probably null	Het
Wdr3	T	C	3: 100,062,252 (GRCm39)	D221G	probably benign	Het
Wdr97	G	A	15: 76,244,832 (GRCm39)	E1125K		Het
Zan	T	C	5: 137,403,624 (GRCm39)	E3974G	unknown	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
R0308:Atp5f1b	UTSW	10	127,921,908 (GRCm39)	missense	probably benign	0.11
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
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'- ATCACCCAATTACTGTGCCTAC -3'
(R):5'- ACAAAATGGGACGCTGCTGG -3'

Sequencing Primer
(F):5'- CCTACGGCGGAGGTTGC -3'
(R):5'- GACGCTGCTGGTTATATCAACGC -3'

Posted On

2020-01-23