Mutagenetix > Incidental Mutation

Incidental Mutation 'R2142:Atp6v0a4'

236360

Institutional Source

Beutler Lab

Gene Symbol

Atp6v0a4

Ensembl Gene

ENSMUSG00000038600

Gene Name

ATPase, H+ transporting, lysosomal V0 subunit A4

Synonyms

Atp6n1b, V-ATPase alpha 4

MMRRC Submission

040145-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2142 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

38025418-38101521 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 38059871 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 236 (K236*)

Ref Sequence

ENSEMBL: ENSMUSP00000110558 (fasta)

Gene Model

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

AlphaFold

Q920R6

Predicted Effect

probably null
Transcript: ENSMUST00000040259
AA Change: K236*

SMART Domains

Protein: ENSMUSP00000039381
Gene: ENSMUSG00000038600
AA Change: K236*

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

Predicted Effect

probably null
Transcript: ENSMUST00000114908
AA Change: K236*

SMART Domains

Protein: ENSMUSP00000110558
Gene: ENSMUSG00000038600
AA Change: K236*

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144752

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.2%

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 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: 108 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aagab	T	A	9: 63,523,957 (GRCm39)		probably null	Het
Adgrb3	G	T	1: 25,107,290 (GRCm39)	P640T	probably damaging	Het
Adgrf4	C	T	17: 42,977,789 (GRCm39)	R518Q	possibly damaging	Het
Afdn	A	G	17: 14,030,695 (GRCm39)	E202G	probably damaging	Het
Alkbh2	C	T	5: 114,263,777 (GRCm39)	V77I	probably benign	Het
Angpt2	T	C	8: 18,764,156 (GRCm39)	T129A	probably benign	Het
Baz1b	G	A	5: 135,246,129 (GRCm39)	R526H	probably damaging	Het
Bltp3b	A	G	10: 89,647,910 (GRCm39)	D207G	probably damaging	Het
Bscl2	T	C	19: 8,822,684 (GRCm39)		probably null	Het
Btnl9	G	T	11: 49,061,453 (GRCm39)		probably null	Het
Cd55	C	T	1: 130,377,160 (GRCm39)	V333I	probably benign	Het
Cdh8	C	A	8: 99,838,325 (GRCm39)	C505F	probably damaging	Het
Cep112	A	G	11: 108,497,151 (GRCm39)	E697G	probably damaging	Het
Ces1c	T	A	8: 93,857,468 (GRCm39)	I38F	probably benign	Het
Cfhr2	T	G	1: 139,758,893 (GRCm39)	R52S	probably benign	Het
Clcn6	A	G	4: 148,108,594 (GRCm39)	F145S	possibly damaging	Het
Cnksr1	A	G	4: 133,956,939 (GRCm39)	Y488H	probably damaging	Het
Cntrl	CAGAG	CAG	2: 35,012,818 (GRCm39)		probably null	Het
Col25a1	A	G	3: 130,363,965 (GRCm39)	H546R	probably damaging	Het
Crot	A	T	5: 9,037,780 (GRCm39)	Y179N	possibly damaging	Het
Dck	T	C	5: 88,920,582 (GRCm39)	C101R	probably damaging	Het
Ddb1	T	C	19: 10,596,490 (GRCm39)		probably null	Het
Dnah7b	T	A	1: 46,307,830 (GRCm39)	M3048K	probably damaging	Het
Dsel	T	C	1: 111,787,187 (GRCm39)	N1116S	probably benign	Het
Efnb1	A	G	X: 98,191,123 (GRCm39)	Y343C	probably damaging	Het
Elf2	A	G	3: 51,163,861 (GRCm39)	V496A	probably damaging	Het
Esco1	A	G	18: 10,574,873 (GRCm39)		probably null	Het
Fbn1	T	G	2: 125,254,628 (GRCm39)	T212P	possibly damaging	Het
Fuca2	A	G	10: 13,381,609 (GRCm39)	Y174C	probably damaging	Het
Gabarap	C	T	11: 69,882,515 (GRCm39)		probably benign	Het
Gdf2	A	G	14: 33,667,198 (GRCm39)	T307A	probably benign	Het
Gemin4	G	C	11: 76,101,876 (GRCm39)	P962A	probably damaging	Het
Glyatl3	T	C	17: 41,221,975 (GRCm39)	D93G	probably benign	Het
Gm266	C	T	12: 111,451,615 (GRCm39)	R197K	possibly damaging	Het
Gns	G	A	10: 121,228,683 (GRCm39)	R498H	probably damaging	Het
Gprasp1	G	A	X: 134,702,791 (GRCm39)	E995K	possibly damaging	Het
Grk6	T	C	13: 55,602,177 (GRCm39)	W335R	probably damaging	Het
Helz2	T	C	2: 180,873,173 (GRCm39)	E2379G	probably benign	Het
Hmx2	A	T	7: 131,157,588 (GRCm39)	D234V	probably damaging	Het
Ift20	G	A	11: 78,430,860 (GRCm39)	E68K	probably damaging	Het
Ipo9	CCT	CCTTCT	1: 135,314,020 (GRCm39)		probably benign	Het
Ipo9	A	G	1: 135,329,988 (GRCm39)	V484A	probably benign	Het
Ipo9	ATCCTCCTCCTCCTCCTC	ATCCTCCTCCTCCTCCTCCTC	1: 135,314,006 (GRCm39)		probably benign	Het
Ipo9	TCC	TCCGCC	1: 135,314,013 (GRCm39)		probably benign	Het
Itpkc	A	G	7: 26,919,075 (GRCm39)	V397A	possibly damaging	Het
Jarid2	T	A	13: 45,059,752 (GRCm39)	N661K	probably damaging	Het
Kat5	T	A	19: 5,655,713 (GRCm39)		probably null	Het
Kctd16	A	G	18: 40,392,231 (GRCm39)	E273G	possibly damaging	Het
Kdr	T	C	5: 76,129,083 (GRCm39)	T188A	possibly damaging	Het
Kif18a	T	A	2: 109,163,848 (GRCm39)	N732K	probably benign	Het
Laptm4b	G	T	15: 34,238,478 (GRCm39)	M3I	probably benign	Het
Macf1	C	T	4: 123,248,895 (GRCm39)	C7210Y	probably damaging	Het
Man1a	T	C	10: 53,811,094 (GRCm39)	N338S	probably damaging	Het
Mical3	A	T	6: 121,008,095 (GRCm39)		probably null	Het
Micall1	T	C	15: 79,014,995 (GRCm39)	Y751H	probably damaging	Het
Mki67	A	G	7: 135,297,321 (GRCm39)	I2571T	possibly damaging	Het
Mx2	G	A	16: 97,339,903 (GRCm39)	E20K	probably benign	Het
Myh2	A	G	11: 67,080,158 (GRCm39)	E1124G	probably damaging	Het
Myo10	A	G	15: 25,714,194 (GRCm39)	E87G	probably benign	Het
Nat10	T	C	2: 103,561,648 (GRCm39)		probably null	Het
Nipa1	C	A	7: 55,647,259 (GRCm39)		probably null	Het
Nrbp1	A	G	5: 31,405,273 (GRCm39)	E287G	possibly damaging	Het
Nup188	T	A	2: 30,226,718 (GRCm39)	I1165N	possibly damaging	Het
Obsl1	G	A	1: 75,486,756 (GRCm38)	T1764M	probably benign	Het
Optc	A	T	1: 133,831,534 (GRCm39)		probably null	Het
Or14j4	T	G	17: 37,921,362 (GRCm39)	E93D	probably benign	Het
Or2y13	A	G	11: 49,414,666 (GRCm39)	I39V	probably benign	Het
Or4a68	C	T	2: 89,269,927 (GRCm39)	R232H	probably benign	Het
Or4k48	C	A	2: 111,475,566 (GRCm39)	V259L	probably benign	Het
Or51a10	C	T	7: 103,699,507 (GRCm39)	G18D	probably damaging	Het
Or6c1b	A	G	10: 129,273,616 (GRCm39)	K312E	probably benign	Het
Or9g3	C	T	2: 85,590,021 (GRCm39)	R233H	probably benign	Het
Panx3	G	C	9: 37,577,969 (GRCm39)	S87W	probably damaging	Het
Parp8	T	A	13: 117,031,422 (GRCm39)	D430V	probably benign	Het
Pcdhb11	A	G	18: 37,555,176 (GRCm39)	N169D	probably benign	Het
Pdzd2	C	A	15: 12,406,645 (GRCm39)	G605V	probably damaging	Het
Phkg2	G	A	7: 127,181,386 (GRCm39)		probably null	Het
Pkhd1	T	A	1: 20,594,119 (GRCm39)	K1331N	probably benign	Het
Plcb4	G	A	2: 135,818,019 (GRCm39)	V762M	probably damaging	Het
Plec	T	C	15: 76,067,374 (GRCm39)	T1331A	probably benign	Het
Pot1a	T	C	6: 25,750,043 (GRCm39)		probably null	Het
Prb1a	T	A	6: 132,184,166 (GRCm39)	Q489L	unknown	Het
Prelp	C	T	1: 133,842,869 (GRCm39)	R92K	probably benign	Het
Psme4	A	G	11: 30,770,998 (GRCm39)	Y782C	possibly damaging	Het
Rab11fip5	T	C	6: 85,314,210 (GRCm39)		probably null	Het
Ren1	C	G	1: 133,278,516 (GRCm39)		probably null	Het
Rit2	A	G	18: 31,286,766 (GRCm39)	F140L	probably benign	Het
Ro60	T	C	1: 143,635,772 (GRCm39)	D458G	probably benign	Het
Rorc	G	A	3: 94,296,833 (GRCm39)	R271Q	probably benign	Het
Sall3	A	T	18: 81,013,046 (GRCm39)	M1130K	probably damaging	Het
Sart3	T	C	5: 113,902,154 (GRCm39)	E141G	probably damaging	Het
Serpina9	T	C	12: 103,974,568 (GRCm39)	D195G	probably benign	Het
Slitrk6	T	G	14: 110,988,226 (GRCm39)	T494P	probably benign	Het
Tars3	A	T	7: 65,308,645 (GRCm39)	I272L	probably benign	Het
Tas2r115	T	C	6: 132,714,321 (GRCm39)	K210R	probably benign	Het
Tdpoz3	C	T	3: 93,734,206 (GRCm39)	H294Y	probably benign	Het
Tesl1	T	A	X: 23,773,549 (GRCm39)	V350E	probably benign	Het
Tigd4	A	G	3: 84,501,670 (GRCm39)	T196A	possibly damaging	Het
Treh	G	A	9: 44,592,438 (GRCm39)	M54I	probably damaging	Het
Ttn	C	T	2: 76,643,683 (GRCm39)	G11436R	probably damaging	Het
Ubap1	C	T	4: 41,379,257 (GRCm39)	A157V	probably damaging	Het
Ubr4	C	T	4: 139,204,518 (GRCm39)	T4810M	probably damaging	Het
Xrcc6	T	A	15: 81,907,178 (GRCm39)	F167I	probably damaging	Het
Zfp281	GCGGCAGCTCCGGCAGC	GCGGCAGCTCCGGCAGCTCCGGCAGC	1: 136,553,091 (GRCm39)		probably benign	Het
Zfp473	T	C	7: 44,382,501 (GRCm39)	T610A	possibly damaging	Het
Zfp606	T	C	7: 12,213,653 (GRCm39)	I4T	probably damaging	Het
Zfp638	T	A	6: 83,963,578 (GRCm39)	N1918K	probably damaging	Het
Zfp65	G	T	13: 67,856,311 (GRCm39)	H333N	probably damaging	Het

Other mutations in Atp6v0a4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00232:Atp6v0a4	APN	6	38,069,725 (GRCm39)	nonsense	probably null
IGL01358:Atp6v0a4	APN	6	38,051,145 (GRCm39)	missense	probably damaging	1.00
IGL01781:Atp6v0a4	APN	6	38,051,095 (GRCm39)	missense	possibly damaging	0.91
IGL01934:Atp6v0a4	APN	6	38,028,481 (GRCm39)	missense	possibly damaging	0.90
IGL01953:Atp6v0a4	APN	6	38,031,552 (GRCm39)	missense	probably damaging	0.97
IGL03190:Atp6v0a4	APN	6	38,031,491 (GRCm39)	missense	probably benign	0.02
R0049:Atp6v0a4	UTSW	6	38,059,016 (GRCm39)	missense	probably damaging	1.00
R0049:Atp6v0a4	UTSW	6	38,059,016 (GRCm39)	missense	probably damaging	1.00
R0100:Atp6v0a4	UTSW	6	38,053,750 (GRCm39)	missense	probably benign
R0105:Atp6v0a4	UTSW	6	38,030,064 (GRCm39)	splice site	probably benign
R1569:Atp6v0a4	UTSW	6	38,027,560 (GRCm39)	missense	probably damaging	1.00
R1754:Atp6v0a4	UTSW	6	38,044,764 (GRCm39)	missense	probably benign
R2162:Atp6v0a4	UTSW	6	38,065,581 (GRCm39)	missense	possibly damaging	0.89
R2433:Atp6v0a4	UTSW	6	38,058,964 (GRCm39)	critical splice donor site	probably null
R2892:Atp6v0a4	UTSW	6	38,029,952 (GRCm39)	missense	probably benign	0.00
R4599:Atp6v0a4	UTSW	6	38,055,737 (GRCm39)	missense	probably benign	0.01
R4687:Atp6v0a4	UTSW	6	38,069,400 (GRCm39)	missense	possibly damaging	0.95
R4716:Atp6v0a4	UTSW	6	38,037,999 (GRCm39)	missense	probably damaging	1.00
R4938:Atp6v0a4	UTSW	6	38,055,749 (GRCm39)	missense	possibly damaging	0.80
R5062:Atp6v0a4	UTSW	6	38,051,118 (GRCm39)	missense	probably benign	0.05
R5437:Atp6v0a4	UTSW	6	38,053,668 (GRCm39)	missense	probably damaging	0.97
R5440:Atp6v0a4	UTSW	6	38,069,752 (GRCm39)	missense	probably damaging	0.96
R5697:Atp6v0a4	UTSW	6	38,027,442 (GRCm39)	splice site	probably null
R5698:Atp6v0a4	UTSW	6	38,027,442 (GRCm39)	splice site	probably null
R6425:Atp6v0a4	UTSW	6	38,027,446 (GRCm39)	missense	possibly damaging	0.88
R7659:Atp6v0a4	UTSW	6	38,048,907 (GRCm39)	missense	probably damaging	1.00
R8004:Atp6v0a4	UTSW	6	38,027,484 (GRCm39)	missense	possibly damaging	0.93
R8270:Atp6v0a4	UTSW	6	38,051,164 (GRCm39)	missense	probably damaging	1.00
R8683:Atp6v0a4	UTSW	6	38,025,926 (GRCm39)	makesense	probably null
R9007:Atp6v0a4	UTSW	6	38,029,988 (GRCm39)	missense	probably benign
R9359:Atp6v0a4	UTSW	6	38,059,048 (GRCm39)	missense	probably benign	0.21
R9475:Atp6v0a4	UTSW	6	38,037,917 (GRCm39)	missense	probably damaging	1.00
Z1176:Atp6v0a4	UTSW	6	38,025,971 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- AGTCGTTGTGTCTTCAGCATC -3'
(R):5'- CTGTGGCCTCCTTGATTAGC -3'

Sequencing Primer
(F):5'- TTGTGTCTTCAGCATCATTTAAAATG -3'
(R):5'- CCCAACTCTGGGAAAGAA -3'

Posted On

2014-10-01