Mutagenetix > Incidental Mutation

Incidental Mutation 'R1644:Atp6v0a1'

173764

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

039680-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1644 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

101009452-101063719 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 101038786 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 471 (S471P)

Ref Sequence

ENSEMBL: ENSMUSP00000131848 (fasta)

Gene Model

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

AlphaFold

Q9Z1G4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000044721
AA Change: S471P

PolyPhen 2 Score 0.603 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000044838
Gene: ENSMUSG00000019302
AA Change: S471P

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000092663
AA Change: S471P

PolyPhen 2 Score 0.603 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000090333
Gene: ENSMUSG00000019302
AA Change: S471P

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

Predicted Effect

probably benign
Transcript: ENSMUST00000103110
AA Change: S478P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000099399
Gene: ENSMUSG00000019302
AA Change: S478P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139857

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154896

Predicted Effect

possibly damaging
Transcript: ENSMUST00000168757
AA Change: S471P

PolyPhen 2 Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000131848
Gene: ENSMUSG00000019302
AA Change: S471P

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

Meta Mutation Damage Score

0.2482

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.6%

Validation Efficiency

98% (62/63)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830018L16Rik	C	T	1: 11,414,590	R8*	probably null	Het
Acacb	A	T	5: 114,195,285	H490L	probably damaging	Het
Ace	C	A	11: 105,985,106	H417N	probably damaging	Het
Adamtsl3	A	G	7: 82,450,090	N151D	possibly damaging	Het
Agap1	A	G	1: 89,663,730	N114S	probably damaging	Het
Arap3	A	T	18: 37,984,245	V926D	probably damaging	Het
Arhgap12	A	T	18: 6,112,340	I8N	probably benign	Het
Arhgef17	A	T	7: 100,929,504	F746I	probably damaging	Het
Bdp1	A	G	13: 100,060,940	V979A	probably benign	Het
Ccdc88c	C	A	12: 100,913,474	R1789L	probably damaging	Het
Cckar	A	T	5: 53,699,873	N327K	probably benign	Het
Cfap65	T	C	1: 74,917,175	T1082A	probably damaging	Het
Clcn7	T	A	17: 25,159,698	I719N	probably damaging	Het
Col27a1	C	G	4: 63,328,631		probably benign	Het
Cspp1	C	T	1: 10,126,438	T179I	probably damaging	Het
Dnah1	C	T	14: 31,302,292		probably benign	Het
Dnah6	A	G	6: 73,155,296	V1141A	probably benign	Het
Dusp4	A	G	8: 34,818,479	Y298C	probably damaging	Het
Efhc1	C	A	1: 20,967,401	Y267*	probably null	Het
Eif2s1	T	A	12: 78,866,521		probably null	Het
Epo	A	G	5: 137,483,155	V169A	possibly damaging	Het
Esr1	A	T	10: 5,001,380	Y586F	probably benign	Het
Fat2	T	C	11: 55,287,783	T1484A	possibly damaging	Het
Fat2	T	C	11: 55,296,181	T1280A	possibly damaging	Het
Gm5828	T	C	1: 16,769,261		noncoding transcript	Het
Idh3b	T	C	2: 130,281,510	I187V	possibly damaging	Het
Kif13a	A	C	13: 46,793,922	V862G	probably benign	Het
Kndc1	A	G	7: 139,930,756	D1327G	probably damaging	Het
Mfsd9	T	A	1: 40,773,798	R452S	probably benign	Het
Myh15	C	T	16: 49,132,203	R879C	probably benign	Het
Naip2	T	C	13: 100,182,929	R260G	possibly damaging	Het
Npat	T	G	9: 53,570,172	L1060R	probably damaging	Het
Olfr1211	A	T	2: 88,929,387	D309E	probably benign	Het
Olfr1261	A	T	2: 89,993,953	T187S	possibly damaging	Het
Olfr169	T	A	16: 19,566,406	H159L	probably benign	Het
Olfr523	T	C	7: 140,176,648	V176A	probably benign	Het
Olfr667	A	C	7: 104,916,808	F163V	probably benign	Het
Pld5	T	C	1: 175,975,626	T296A	possibly damaging	Het
Polq	C	T	16: 37,060,264	A651V	probably damaging	Het
Polr3a	G	A	14: 24,470,624	P607S	probably damaging	Het
Ranbp9	G	A	13: 43,412,539	R424C	probably damaging	Het
Rsl1	G	A	13: 67,177,165		probably benign	Het
Sema4c	A	G	1: 36,550,804	S490P	probably damaging	Het
Setd3	A	T	12: 108,113,344	L300Q	possibly damaging	Het
Slc15a3	T	C	19: 10,857,231	I492T	possibly damaging	Het
Stag1	T	C	9: 100,880,900		probably benign	Het
Tgm4	A	G	9: 123,051,416	Y294C	probably damaging	Het
Tm9sf1	A	G	14: 55,641,300	S212P	probably benign	Het
Tmcc1	A	G	6: 116,133,865	S156P	probably damaging	Het
Vmn1r184	A	C	7: 26,267,245	M139L	probably benign	Het
Vmn1r209	A	C	13: 22,806,482	F13V	possibly damaging	Het
Xkr5	T	C	8: 18,934,125	E467G	probably benign	Het
Zdbf2	C	T	1: 63,308,972	S2170L	possibly damaging	Het
Zfp277	G	T	12: 40,329,610		probably null	Het
Zfp62	T	C	11: 49,215,769	I229T	probably damaging	Het
Zfp810	A	G	9: 22,279,028	S195P	possibly damaging	Het
Zfp94	G	A	7: 24,311,502		probably benign	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
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
R9762:Atp6v0a1	UTSW	11	101055601	missense	possibly damaging	0.46
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'- TTGTCACAAGGGATGCTGCCAC -3'
(R):5'- AGGCTCAGATCCTTGCTATTTGCTG -3'

Sequencing Primer
(F):5'- AAGGGATGCTGCCACACTTC -3'
(R):5'- GAGGAGACAATATGTCCTTCTGAACC -3'

Posted On

2014-04-24