Mutagenetix > Incidental Mutation

Incidental Mutation 'R9762:Atp6v0a1'

733094

Institutional Source

Beutler Lab

Gene Symbol

Atp6v0a1

Ensembl Gene

ENSMUSG00000019302

Gene Name

ATPase, H+ transporting, lysosomal V0 subunit A1

Synonyms

Atp6n1a, Vpp-1, Vpp1, V-ATPase a1, Atp6n1

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9762 (G1)

Quality Score

186.009

Status

Not validated

Chromosome

Chromosomal Location

101009452-101063719 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 101055601 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 807 (H807Y)

Ref Sequence

ENSEMBL: ENSMUSP00000044838 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044721] [ENSMUST00000092663] [ENSMUST00000103110] [ENSMUST00000168757]

AlphaFold

Q9Z1G4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000044721
AA Change: H807Y

PolyPhen 2 Score 0.460 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000044838
Gene: ENSMUSG00000019302
AA Change: H807Y

Domain	Start	End	E-Value	Type
Pfam:V_ATPase_I	26	829	N/A	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000092663
AA Change: H801Y

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000090333
Gene: ENSMUSG00000019302
AA Change: H801Y

Domain	Start	End	E-Value	Type
Pfam:V_ATPase_I	26	823	N/A	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000103110
AA Change: H808Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000099399
Gene: ENSMUSG00000019302
AA Change: H808Y

Domain	Start	End	E-Value	Type
Pfam:V_ATPase_I	27	829	N/A	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000168757
AA Change: H807Y

PolyPhen 2 Score 0.516 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000131848
Gene: ENSMUSG00000019302
AA Change: H807Y

Domain	Start	End	E-Value	Type
Pfam:V_ATPase_I	26	829	N/A	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.4%
20x: 98.6%

Validation Efficiency

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 gene encodes one of three A subunit proteins and the encoded protein is associated with clathrin-coated vesicles. Three transcript variants encoding different isoforms have been found for this gene. [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
Ablim1	G	T	19: 57,037,259	R851S	probably damaging	Het
Acap2	C	A	16: 31,110,945	A407S	probably damaging	Het
Adam26a	A	T	8: 43,568,598	S618R	probably benign	Het
Adamtsl5	T	C	10: 80,345,062	Y89C	probably damaging	Het
Aebp2	T	A	6: 140,642,295	S364T	probably damaging	Het
Ankfy1	A	G	11: 72,730,575	E229G	probably benign	Het
Arhgap27	G	T	11: 103,360,685	D72E	probably benign	Het
Arhgap33	T	C	7: 30,531,525	E191G	probably null	Het
C530008M17Rik	A	G	5: 76,858,708	K972R	unknown	Het
Ccdc113	A	C	8: 95,545,977	E237D	probably benign	Het
Cd200r2	T	A	16: 44,909,057	I25K	probably benign	Het
Cd300c2	A	G	11: 114,996,949	V209A	probably damaging	Het
Cdkn2d	T	A	9: 21,289,087	E129D	probably benign	Het
Chd9	A	T	8: 90,986,113	N855Y	unknown	Het
Cntn3	A	G	6: 102,277,235	C249R	probably damaging	Het
Col12a1	T	C	9: 79,619,984	E2688G	possibly damaging	Het
Copb2	C	T	9: 98,582,848	T612I	probably benign	Het
Cplx1	A	T	5: 108,525,512	D29E	possibly damaging	Het
Cstf3	A	T	2: 104,664,339	R645*	probably null	Het
Ctdp1	A	T	18: 80,449,335	Y648*	probably null	Het
Daam1	T	A	12: 71,944,081	D156E	unknown	Het
Dbn1	G	A	13: 55,475,011	P599L	probably damaging	Het
Diaph1	C	A	18: 37,854,536	V1056F	probably damaging	Het
Dzip3	A	T	16: 48,928,344	D870E	probably damaging	Het
Efcab12	T	C	6: 115,823,370	T231A	possibly damaging	Het
Efl1	A	C	7: 82,763,388	D995A	probably benign	Het
Fam186a	T	C	15: 99,944,512	T1284A	possibly damaging	Het
Fbxo33	T	C	12: 59,204,922	E269G	probably benign	Het
Foxj3	T	A	4: 119,626,343	M604K	unknown	Het
Gabra4	A	G	5: 71,657,120	S86P	unknown	Het
Gnas	G	A	2: 174,298,846	W269*	probably null	Het
Gpc6	T	G	14: 117,964,846	N489K	probably damaging	Het
Gprin3	T	C	6: 59,354,251	K357R	possibly damaging	Het
Grip1	G	T	10: 119,976,001	A286S	possibly damaging	Het
Grm4	A	T	17: 27,502,714	V151E	probably damaging	Het
Gucy1b1	A	T	3: 82,034,758	S565T	possibly damaging	Het
Hace1	T	C	10: 45,648,918	V260A	probably benign	Het
Hepacam2	A	G	6: 3,486,940	I139T	probably damaging	Het
Hspa4l	T	C	3: 40,772,625	I486T	probably benign	Het
Igkv8-19	T	C	6: 70,340,882	Y120C	probably damaging	Het
Iglv2	C	T	16: 19,260,798		probably benign	Het
Igsf10	A	T	3: 59,329,685	L1025H	probably damaging	Het
Itpkb	A	G	1: 180,334,187	N626S	probably benign	Het
Jarid2	C	T	13: 44,914,777	R1092W	possibly damaging	Het
Klc3	C	T	7: 19,398,098	W118*	probably null	Het
Klhl25	C	T	7: 75,866,993	T549I	probably damaging	Het
Krtap6-2	T	A	16: 89,419,875	Y68F	unknown	Het
Mtcl1	T	C	17: 66,366,352	N1121D	probably benign	Het
Ncbp3	A	G	11: 73,070,842	K314R	probably benign	Het
Nop2	T	C	6: 125,144,309	W685R	probably benign	Het
Orc1	T	A	4: 108,590,677	D40E	probably benign	Het
Pappa2	G	T	1: 158,857,378	N730K	probably damaging	Het
Parpbp	A	G	10: 88,124,953	S224P	possibly damaging	Het
Pdgfc	A	G	3: 81,037,485	R17G	probably benign	Het
Pfpl	G	C	19: 12,428,933	E183Q	probably damaging	Het
Pik3r6	T	A	11: 68,533,532	L321*	probably null	Het
Pnp2	T	C	14: 50,959,549	W31R	probably damaging	Het
Prr12	T	C	7: 45,047,530	Y987C	unknown	Het
Prr27	C	A	5: 87,843,135	P202Q	probably benign	Het
Prss23	T	C	7: 89,510,475	I129V	probably damaging	Het
Rhno1	T	C	6: 128,359,156	T39A	probably damaging	Het
Rps2	A	T	17: 24,721,836	R279*	probably null	Het
Ski	T	C	4: 155,159,887	K427R	probably damaging	Het
Slc23a3	ATT	ATTT	1: 75,133,281		probably null	Het
Slc26a7	C	T	4: 14,546,372	G319D	probably damaging	Het
Slc7a6os	A	G	8: 106,210,891	V8A	probably damaging	Het
Smim8	A	C	4: 34,771,265	I43S	probably damaging	Het
Sox5	T	C	6: 143,874,116	K400R	probably damaging	Het
Tab1	G	A	15: 80,148,742	V76M	probably damaging	Het
Taf2	A	C	15: 55,031,044		probably null	Het
Taf5	G	A	19: 47,070,995	V193M	probably damaging	Het
Tm2d1	A	T	4: 98,358,024	S180R	probably damaging	Het
Ttc12	A	G	9: 49,456,866	F287S	probably damaging	Het
Ubqln4	G	A	3: 88,565,878		probably null	Het
Ubr3	T	C	2: 70,009,153	V1537A	probably benign	Het
Ugt8a	A	G	3: 125,915,251	L70P	probably damaging	Het
Vps26a	A	T	10: 62,480,654	N51K	probably benign	Het
Wdr66	A	G	5: 123,322,470	Y1165C	probably damaging	Het
Xkr5	T	A	8: 18,940,733	T173S	probably benign	Het
Zfp354c	A	G	11: 50,815,412	C279R	probably damaging	Het
Zfp65	T	A	13: 67,708,359	H267L	probably damaging	Het

Other mutations in Atp6v0a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00687:Atp6v0a1	APN	11	101030505	critical splice donor site	probably null
IGL01024:Atp6v0a1	APN	11	101048439	missense	probably benign	0.00
IGL01390:Atp6v0a1	APN	11	101043802	missense	probably benign	0.01
IGL02214:Atp6v0a1	APN	11	101039840	missense	probably benign	0.01
IGL02639:Atp6v0a1	APN	11	101055518	missense	possibly damaging	0.90
R0125:Atp6v0a1	UTSW	11	101038851	splice site	probably null
R0193:Atp6v0a1	UTSW	11	101048482	missense	possibly damaging	0.90
R0265:Atp6v0a1	UTSW	11	101048515	missense	possibly damaging	0.80
R0973:Atp6v0a1	UTSW	11	101055491	nonsense	probably null
R0973:Atp6v0a1	UTSW	11	101055491	nonsense	probably null
R0974:Atp6v0a1	UTSW	11	101055491	nonsense	probably null
R1460:Atp6v0a1	UTSW	11	101033998	missense	probably damaging	1.00
R1580:Atp6v0a1	UTSW	11	101029204	missense	probably damaging	1.00
R1625:Atp6v0a1	UTSW	11	101055554	missense	probably damaging	1.00
R1644:Atp6v0a1	UTSW	11	101038786	missense	possibly damaging	0.65
R1779:Atp6v0a1	UTSW	11	101026685	missense	probably benign	0.01
R2895:Atp6v0a1	UTSW	11	101044598	missense	probably benign
R2926:Atp6v0a1	UTSW	11	101043948	missense	probably damaging	0.99
R3727:Atp6v0a1	UTSW	11	101030420	missense	probably benign	0.01
R3943:Atp6v0a1	UTSW	11	101055517	missense	probably benign	0.00
R4820:Atp6v0a1	UTSW	11	101042950	missense	probably benign	0.00
R5119:Atp6v0a1	UTSW	11	101020515	missense	probably benign	0.02
R5250:Atp6v0a1	UTSW	11	101043044	missense	possibly damaging	0.94
R5377:Atp6v0a1	UTSW	11	101055587	missense	probably damaging	1.00
R5393:Atp6v0a1	UTSW	11	101038807	missense	possibly damaging	0.95
R5497:Atp6v0a1	UTSW	11	101029185	missense	probably damaging	1.00
R5787:Atp6v0a1	UTSW	11	101018574	missense	probably benign	0.04
R6054:Atp6v0a1	UTSW	11	101039889	missense	possibly damaging	0.91
R6076:Atp6v0a1	UTSW	11	101055060	missense	probably damaging	1.00
R6889:Atp6v0a1	UTSW	11	101029183	missense	possibly damaging	0.87
R7035:Atp6v0a1	UTSW	11	101027357	missense	probably damaging	0.97
R7084:Atp6v0a1	UTSW	11	101034042	missense	probably damaging	1.00
R7212:Atp6v0a1	UTSW	11	101043957	missense	probably benign	0.08
R8289:Atp6v0a1	UTSW	11	101034105	missense	probably damaging	1.00
R8461:Atp6v0a1	UTSW	11	101044574	missense	possibly damaging	0.60
R8680:Atp6v0a1	UTSW	11	101062403	makesense	probably null
R8725:Atp6v0a1	UTSW	11	101029189	missense	possibly damaging	0.94
R8727:Atp6v0a1	UTSW	11	101029189	missense	possibly damaging	0.94
R8935:Atp6v0a1	UTSW	11	101038693	missense	possibly damaging	0.90
R9658:Atp6v0a1	UTSW	11	101018588	missense	probably benign	0.18
R9779:Atp6v0a1	UTSW	11	101034112	missense	probably damaging	1.00
X0023:Atp6v0a1	UTSW	11	101044597	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- ACAGGGCTCAAGGAACTCAG -3'
(R):5'- AAAGATGAGCTGGGCTTTCCTG -3'

Sequencing Primer
(F):5'- GCTAAACTCAGTTGCACCTTGTG -3'
(R):5'- GTGGCCCTTCCCTGTGCTAG -3'

Posted On

2022-11-14