Mutagenetix > Incidental Mutations

Incidental Mutation 'R0049:Atp6v0a4'

16072

Institutional Source

Beutler Lab

Gene Symbol

Atp6v0a4

Ensembl Gene

ENSMUSG00000038600

Gene Name

ATPase, H+ transporting, lysosomal V0 subunit A4

Synonyms

V-ATPase alpha 4, Atp6n1b

MMRRC Submission

038343-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R0049 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

38048483-38124586 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 38082081 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 256 (R256C)

Ref Sequence

ENSEMBL: ENSMUSP00000110558 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040259] [ENSMUST00000114908]

Predicted Effect

probably damaging
Transcript: ENSMUST00000040259
AA Change: R256C

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

SMART Domains

Protein: ENSMUSP00000039381
Gene: ENSMUSG00000038600
AA Change: R256C

Domain	Start	End	E-Value	Type
Pfam:V_ATPase_I	26	824	3.5e-293	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000114908
AA Change: R256C

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

SMART Domains

Protein: ENSMUSP00000110558
Gene: ENSMUSG00000038600
AA Change: R256C

Domain	Start	End	E-Value	Type
Pfam:V_ATPase_I	27	823	N/A	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144752

Meta Mutation Damage Score

0.6263

Coding Region Coverage

1x: 90.0%
3x: 87.7%
10x: 82.4%
20x: 74.6%

Validation Efficiency

89% (108/122)

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 intracellular compartments of eukaryotic cells. V-ATPase dependent 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. This gene is one of four genes in man and mouse that encode different isoforms of the a subunit. Alternatively spliced transcript variants encoding the same protein have been described. Mutations in this gene are associated with renal tubular acidosis associated with preserved hearing. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null mutation display postnatal or premature lethality, hyperchloremic hypokalemic acidosis with hypocitraturia, inner ear defects, impaired hearing, and impaired olfaction. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	T	6: 121,638,308	H9L	possibly damaging	Het
Aars	T	A	8: 111,052,451	I739K	possibly damaging	Het
Acod1	T	A	14: 103,055,207	I389K	possibly damaging	Het
Akap1	C	A	11: 88,839,624		probably null	Het
Anxa7	T	C	14: 20,462,610	D285G	probably damaging	Het
Arhgap1	T	C	2: 91,670,169	Y308H	probably damaging	Het
Arhgef11	T	A	3: 87,729,193		probably null	Het
Camsap3	C	A	8: 3,598,772	S163R	probably benign	Het
Ccdc110	A	T	8: 45,942,626	E518V	probably damaging	Het
Ccdc180	G	A	4: 45,930,119		probably null	Het
Ccnt1	T	C	15: 98,565,079	M71V	probably benign	Het
Celsr2	T	A	3: 108,397,254	Y2263F	probably benign	Het
Cfap69	T	C	5: 5,613,734	T498A	probably benign	Het
Clstn3	T	A	6: 124,459,853	I132F	possibly damaging	Het
Cnot4	A	G	6: 35,051,277	V468A	probably benign	Het
Crmp1	T	G	5: 37,265,273	D141E	possibly damaging	Het
Cryz	C	A	3: 154,611,552	A136D	probably damaging	Het
Dcst2	T	C	3: 89,371,606	V550A	probably benign	Het
Dph6	A	G	2: 114,523,044	V221A	probably benign	Het
Ecm2	A	T	13: 49,524,446	K403*	probably null	Het
Eif3d	T	C	15: 77,959,724	N474S	probably benign	Het
F12	T	C	13: 55,426,317	D34G	probably benign	Het
Fam214b	A	T	4: 43,036,441	S97T	probably benign	Het
Fam228b	A	T	12: 4,748,117	F200Y	probably damaging	Het
Fgl2	T	A	5: 21,375,663	D334E	possibly damaging	Het
Fras1	T	A	5: 96,776,622	F3641I	probably benign	Het
Gabrb2	T	G	11: 42,593,847	Y244D	probably damaging	Het
Gcc1	A	T	6: 28,421,269	D16E	probably benign	Het
Gm10648	T	C	7: 28,861,777		probably benign	Het
Gm6614	T	C	6: 141,990,421	T313A	probably benign	Het
Gorasp2	T	C	2: 70,690,723	S346P	possibly damaging	Het
Htt	A	C	5: 34,908,662	K3060N	probably damaging	Het
Ibsp	C	T	5: 104,302,158	L8F	probably damaging	Het
Kif27	A	T	13: 58,303,564	D983E	probably damaging	Het
Kif3a	T	A	11: 53,590,733		probably benign	Het
Kif3c	A	C	12: 3,367,090	K370N	possibly damaging	Het
Loxhd1	T	C	18: 77,380,560		probably benign	Het
Maz	A	T	7: 127,024,586	D74E	probably damaging	Het
Med21	T	C	6: 146,650,234	S128P	probably damaging	Het
Mms19	A	C	19: 41,955,168	M374R	probably damaging	Het
Mrpl3	T	C	9: 105,055,673	V111A	probably benign	Het
Mtfr2	T	A	10: 20,348,412	Y31N	probably damaging	Het
Neb	A	C	2: 52,170,467	M2286R	possibly damaging	Het
Ngf	A	T	3: 102,520,345	R137*	probably null	Het
Nr1i3	T	A	1: 171,214,413	V22E	probably damaging	Het
Nxpe5	T	C	5: 138,251,304	V452A	probably damaging	Het
Olfr743	A	T	14: 50,533,694	K94M	probably damaging	Het
Pax3	A	G	1: 78,103,504	L415P	probably damaging	Het
Pcnt	G	T	10: 76,369,821		probably benign	Het
Peg3	G	T	7: 6,711,673	D183E	possibly damaging	Het
Pglyrp1	G	T	7: 18,889,388	G120V	probably damaging	Het
Pomt1	T	A	2: 32,252,011	H584Q	possibly damaging	Het
Prkcq	G	A	2: 11,283,832	G532E	probably benign	Het
Pwp1	A	G	10: 85,885,616	T361A	possibly damaging	Het
Rab4a	A	T	8: 123,827,342	H5L	probably damaging	Het
Ramp1	T	C	1: 91,196,870	I51T	possibly damaging	Het
Raph1	G	T	1: 60,525,899	T143K	probably benign	Het
Rhpn1	A	G	15: 75,709,239	E110G	possibly damaging	Het
Rnf168	A	T	16: 32,298,469	T283S	possibly damaging	Het
Ros1	T	A	10: 52,101,761	Y1463F	possibly damaging	Het
Rtn4ip1	A	G	10: 43,921,434	Q223R	probably null	Het
Rtp4	G	T	16: 23,612,929	M70I	probably benign	Het
Sag	C	A	1: 87,834,618	T335K	probably damaging	Het
Sgo1	C	T	17: 53,679,663	D167N	probably damaging	Het
St6gal1	G	T	16: 23,321,141	A21S	probably damaging	Het
Stard9	C	A	2: 120,699,819	L2186I	probably damaging	Het
Sun2	T	A	15: 79,727,609		probably benign	Het
Taf4	G	A	2: 179,924,091	T849M	probably damaging	Het
Taok2	G	A	7: 126,866,411	H404Y	possibly damaging	Het
Tdrd7	A	G	4: 45,987,582	I72V	probably damaging	Het
Trav1	T	A	14: 52,428,698	S52T	probably damaging	Het
Trim30a	C	T	7: 104,429,352		probably null	Het
Tro	T	C	X: 150,654,569	N364S	possibly damaging	Het
Tshz3	A	G	7: 36,770,109	T508A	probably damaging	Het
Ttc21b	A	G	2: 66,223,564	L757P	probably damaging	Het
Vmn1r218	C	T	13: 23,137,055	Q111*	probably null	Het
Vmn2r75	G	A	7: 86,148,101	Q835*	probably null	Het
Xcr1	T	A	9: 123,855,875	D274V	possibly damaging	Het
Ypel5	C	T	17: 72,846,337	T12I	probably benign	Het

Other mutations in Atp6v0a4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00232:Atp6v0a4	APN	6	38092790	nonsense	probably null
IGL01358:Atp6v0a4	APN	6	38074210	missense	probably damaging	1.00
IGL01781:Atp6v0a4	APN	6	38074160	missense	possibly damaging	0.91
IGL01934:Atp6v0a4	APN	6	38051546	missense	possibly damaging	0.90
IGL01953:Atp6v0a4	APN	6	38054617	missense	probably damaging	0.97
IGL03190:Atp6v0a4	APN	6	38054556	missense	probably benign	0.02
R0049:Atp6v0a4	UTSW	6	38082081	missense	probably damaging	1.00
R0100:Atp6v0a4	UTSW	6	38076815	missense	probably benign
R0105:Atp6v0a4	UTSW	6	38053129	splice site	probably benign
R1569:Atp6v0a4	UTSW	6	38050625	missense	probably damaging	1.00
R1754:Atp6v0a4	UTSW	6	38067829	missense	probably benign
R2142:Atp6v0a4	UTSW	6	38082936	nonsense	probably null
R2162:Atp6v0a4	UTSW	6	38088646	missense	possibly damaging	0.89
R2433:Atp6v0a4	UTSW	6	38082029	critical splice donor site	probably null
R2892:Atp6v0a4	UTSW	6	38053017	missense	probably benign	0.00
R4599:Atp6v0a4	UTSW	6	38078802	missense	probably benign	0.01
R4687:Atp6v0a4	UTSW	6	38092465	missense	possibly damaging	0.95
R4716:Atp6v0a4	UTSW	6	38061064	missense	probably damaging	1.00
R4938:Atp6v0a4	UTSW	6	38078814	missense	possibly damaging	0.80
R5062:Atp6v0a4	UTSW	6	38074183	missense	probably benign	0.05
R5437:Atp6v0a4	UTSW	6	38076733	missense	probably damaging	0.97
R5440:Atp6v0a4	UTSW	6	38092817	missense	probably damaging	0.96
R5697:Atp6v0a4	UTSW	6	38050507	unclassified	probably null
R5698:Atp6v0a4	UTSW	6	38050507	unclassified	probably null
R6425:Atp6v0a4	UTSW	6	38050511	missense	possibly damaging	0.88
R7659:Atp6v0a4	UTSW	6	38071972	missense	probably damaging	1.00

Posted On

2013-01-08