Mutagenetix > Incidental Mutation

Incidental Mutation 'R3725:Atp6v1a'

270758

Institutional Source

Beutler Lab

Gene Symbol

Atp6v1a

Ensembl Gene

ENSMUSG00000052459

Gene Name

ATPase, H+ transporting, lysosomal V1 subunit A

Synonyms

Atp6a1, lysosomal 70kDa, VA68, VPP2

MMRRC Submission

040716-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.968) question?

Stock #

R3725 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

43905765-43960055 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 43922120 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000110314 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063661] [ENSMUST00000114666]

AlphaFold

P50516

Predicted Effect

probably benign
Transcript: ENSMUST00000063661

SMART Domains

Protein: ENSMUSP00000066886
Gene: ENSMUSG00000052459

Domain	Start	End	E-Value	Type
Pfam:ATP-synt_ab_N	21	83	8.5e-16	PFAM
low complexity region	206	217	N/A	INTRINSIC
Pfam:ATP-synt_ab	229	455	4.4e-113	PFAM
Pfam:ATP-synt_ab_C	473	617	2.4e-29	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000114666

SMART Domains

Protein: ENSMUSP00000110314
Gene: ENSMUSG00000052459

Domain	Start	End	E-Value	Type
Pfam:ATP-synt_ab_N	21	83	2.4e-16	PFAM
Pfam:ATP-synt_ab_Xtn	99	221	3.3e-46	PFAM
Pfam:ATP-synt_ab	230	455	3.3e-110	PFAM
Pfam:ATP-synt_ab_C	473	617	2.4e-29	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130036

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.5%

Validation Efficiency

96% (55/57)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c", and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is one of two V1 domain A subunit isoforms and is found in all tissues. Transcript variants derived from alternative polyadenylation exist. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam8	T	A	7: 139,563,781 (GRCm39)	R740S	possibly damaging	Het
Adamtsl3	A	C	7: 82,261,612 (GRCm39)	D1676A	possibly damaging	Het
Camsap3	T	C	8: 3,653,785 (GRCm39)	L485P	probably damaging	Het
Ccdc81	A	T	7: 89,515,838 (GRCm39)	F614I	possibly damaging	Het
Cdk5rap2	C	A	4: 70,153,674 (GRCm39)	K1716N	possibly damaging	Het
Cfap47	T	A	X: 78,553,621 (GRCm39)	T285S	probably damaging	Het
Cfh	T	C	1: 140,014,234 (GRCm39)	M1197V	probably damaging	Het
Cyp3a11	A	G	5: 145,802,810 (GRCm39)	F228L	probably benign	Het
Ddx24	A	G	12: 103,383,864 (GRCm39)	M575T	probably benign	Het
Dhx36	A	T	3: 62,395,643 (GRCm39)		probably benign	Het
Dmxl2	T	A	9: 54,301,053 (GRCm39)	I1554L	probably damaging	Het
Dsp	A	G	13: 38,378,665 (GRCm39)		probably null	Het
Dsp	A	G	13: 38,381,594 (GRCm39)	S2181G	probably benign	Het
Epg5	T	C	18: 78,060,894 (GRCm39)	I1959T	probably benign	Het
Fam135a	T	A	1: 24,096,515 (GRCm39)	K77*	probably null	Het
Fam209	T	C	2: 172,315,915 (GRCm39)	S97P	probably benign	Het
Fbxo11	A	G	17: 88,316,714 (GRCm39)	V323A	probably benign	Het
Fzd5	A	G	1: 64,775,498 (GRCm39)	S88P	probably damaging	Het
Galnt12	A	T	4: 47,104,140 (GRCm39)	T133S	probably damaging	Het
Gja8	A	G	3: 96,827,161 (GRCm39)	L167P	probably damaging	Het
Gm8730	T	C	8: 103,591,664 (GRCm39)		noncoding transcript	Het
Gsdmd	A	G	15: 75,737,939 (GRCm39)	D247G	probably benign	Het
Iqcg	A	G	16: 32,840,909 (GRCm39)		probably null	Het
Lamb1	C	T	12: 31,371,074 (GRCm39)	A1375V	probably null	Het
Mlip	A	G	9: 77,097,662 (GRCm39)	S282P	probably damaging	Het
Nfxl1	A	T	5: 72,674,405 (GRCm39)	D831E	probably damaging	Het
Nipbl	T	C	15: 8,325,145 (GRCm39)	D2506G	probably damaging	Het
Or6c212	A	T	10: 129,558,984 (GRCm39)	V143D	probably damaging	Het
Or7a39	T	A	10: 78,715,766 (GRCm39)	Y253*	probably null	Het
Pcdhb9	T	C	18: 37,534,654 (GRCm39)	L216P	possibly damaging	Het
Pigc	G	A	1: 161,798,860 (GRCm39)	G281R	possibly damaging	Het
Polr3g	C	T	13: 81,842,754 (GRCm39)	R87H	probably damaging	Het
Ppfia4	T	C	1: 134,241,449 (GRCm39)	D502G	probably benign	Het
Psg18	T	A	7: 18,088,748 (GRCm39)		probably benign	Het
Rad9a	G	A	19: 4,247,694 (GRCm39)	R179C	probably damaging	Het
Rxra	A	G	2: 27,644,289 (GRCm39)	D327G	probably damaging	Het
Samd7	T	C	3: 30,805,283 (GRCm39)	V22A	possibly damaging	Het
Slc22a29	A	T	19: 8,195,973 (GRCm39)	V22D	possibly damaging	Het
Slmap	C	A	14: 26,148,397 (GRCm39)	R671S	probably damaging	Het
Smarcal1	T	C	1: 72,665,755 (GRCm39)	F751S	possibly damaging	Het
Smarcb1	T	A	10: 75,752,620 (GRCm39)	K73N	probably benign	Het
Sptssa	T	C	12: 54,703,180 (GRCm39)	E30G	probably damaging	Het
Stpg2	A	G	3: 139,023,238 (GRCm39)	K418R	probably benign	Het
Tasor2	T	C	13: 3,640,538 (GRCm39)	I200V	probably benign	Het
Tmem19	A	G	10: 115,195,675 (GRCm39)		probably benign	Het
Tmem59l	A	G	8: 70,939,951 (GRCm39)	L6S	unknown	Het
Tmod1	T	C	4: 46,097,026 (GRCm39)	V273A	probably benign	Het
Tnrc6c	C	T	11: 117,614,355 (GRCm39)	R838W	probably damaging	Het
Uggt1	A	T	1: 36,221,588 (GRCm39)	L43*	probably null	Het
Vmn1r205	A	T	13: 22,776,671 (GRCm39)	F144I	probably damaging	Het
Vmn2r54	G	A	7: 12,366,223 (GRCm39)	T237I	probably benign	Het
Vmn2r7	A	T	3: 64,632,412 (GRCm39)	F17I	possibly damaging	Het
Vpreb3	G	A	10: 75,779,125 (GRCm39)		probably null	Het
Vps13d	T	A	4: 144,842,218 (GRCm39)		probably benign	Het
Zkscan5	A	T	5: 145,157,723 (GRCm39)	R742W	probably damaging	Het

Other mutations in Atp6v1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00500:Atp6v1a	APN	16	43,931,946 (GRCm39)	missense	probably benign	0.00
IGL01860:Atp6v1a	APN	16	43,920,319 (GRCm39)	missense	probably damaging	1.00
IGL02691:Atp6v1a	APN	16	43,931,982 (GRCm39)	missense	probably damaging	1.00
IGL03256:Atp6v1a	APN	16	43,931,451 (GRCm39)	unclassified	probably benign
IGL03307:Atp6v1a	APN	16	43,931,922 (GRCm39)	missense	possibly damaging	0.74
R0605:Atp6v1a	UTSW	16	43,931,859 (GRCm39)	critical splice donor site	probably null
R0696:Atp6v1a	UTSW	16	43,907,834 (GRCm39)	missense	probably benign
R0883:Atp6v1a	UTSW	16	43,922,055 (GRCm39)	splice site	probably benign
R1777:Atp6v1a	UTSW	16	43,935,068 (GRCm39)	nonsense	probably null
R2370:Atp6v1a	UTSW	16	43,927,403 (GRCm39)	missense	probably benign	0.10
R2932:Atp6v1a	UTSW	16	43,909,406 (GRCm39)	missense	probably benign	0.03
R4224:Atp6v1a	UTSW	16	43,922,174 (GRCm39)	missense	probably damaging	1.00
R5780:Atp6v1a	UTSW	16	43,935,006 (GRCm39)	missense	probably benign	0.01
R5945:Atp6v1a	UTSW	16	43,920,309 (GRCm39)	missense	probably damaging	0.99
R6032:Atp6v1a	UTSW	16	43,927,303 (GRCm39)	missense	probably damaging	1.00
R6032:Atp6v1a	UTSW	16	43,927,303 (GRCm39)	missense	probably damaging	1.00
R6036:Atp6v1a	UTSW	16	43,919,194 (GRCm39)	missense	probably benign	0.02
R6036:Atp6v1a	UTSW	16	43,919,194 (GRCm39)	missense	probably benign	0.02
R6387:Atp6v1a	UTSW	16	43,907,806 (GRCm39)	missense	possibly damaging	0.76
R6479:Atp6v1a	UTSW	16	43,919,121 (GRCm39)	missense	probably benign	0.00
R6756:Atp6v1a	UTSW	16	43,909,421 (GRCm39)	missense	probably benign	0.18
R7313:Atp6v1a	UTSW	16	43,934,980 (GRCm39)	missense	probably benign	0.00
R8508:Atp6v1a	UTSW	16	43,922,225 (GRCm39)	missense	probably damaging	1.00
R8694:Atp6v1a	UTSW	16	43,921,991 (GRCm39)	missense	probably damaging	1.00
R9448:Atp6v1a	UTSW	16	43,931,872 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CAAACACTTGGCTGCTTACGC -3'
(R):5'- GCACCAAGAGAAGCCATTAGTTTG -3'

Sequencing Primer
(F):5'- GGCTGCTTACGCTCCTACAATG -3'
(R):5'- CCAAGAGAAGCCATTAGTTTGTTTTC -3'

Posted On

2015-03-18