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

V-ATPase alpha 4, Atp6n1b

MMRRC Submission

040145-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R2142 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

38048483-38124586 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 38082936 bp (GRCm38)

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: 63,616,675		probably null	Het
Adgrb3	G	T	1: 25,068,209	P640T	probably damaging	Het
Adgrf4	C	T	17: 42,666,898	R518Q	possibly damaging	Het
Afdn	A	G	17: 13,810,433	E202G	probably damaging	Het
Alkbh2	C	T	5: 114,125,716	V77I	probably benign	Het
Angpt2	T	C	8: 18,714,140	T129A	probably benign	Het
Baz1b	G	A	5: 135,217,275	R526H	probably damaging	Het
Bscl2	T	C	19: 8,845,320		probably null	Het
Btnl9	G	T	11: 49,170,626		probably null	Het
Cd55	C	T	1: 130,449,423	V333I	probably benign	Het
Cdh8	C	A	8: 99,111,693	C505F	probably damaging	Het
Cep112	A	G	11: 108,606,325	E697G	probably damaging	Het
Ces1c	T	A	8: 93,130,840	I38F	probably benign	Het
Cfhr2	T	G	1: 139,831,155	R52S	probably benign	Het
Clcn6	A	G	4: 148,024,137	F145S	possibly damaging	Het
Cnksr1	A	G	4: 134,229,628	Y488H	probably damaging	Het
Cntrl	CAGAG	CAG	2: 35,122,806		probably null	Het
Col25a1	A	G	3: 130,570,316	H546R	probably damaging	Het
Crot	A	T	5: 8,987,780	Y179N	possibly damaging	Het
Dck	T	C	5: 88,772,723	C101R	probably damaging	Het
Ddb1	T	C	19: 10,619,126		probably null	Het
Dnah7b	T	A	1: 46,268,670	M3048K	probably damaging	Het
Dsel	T	C	1: 111,859,457	N1116S	probably benign	Het
Efnb1	A	G	X: 99,147,517	Y343C	probably damaging	Het
Elf2	A	G	3: 51,256,440	V496A	probably damaging	Het
Esco1	A	G	18: 10,574,873		probably null	Het
Fbn1	T	G	2: 125,412,708	T212P	possibly damaging	Het
Fuca2	A	G	10: 13,505,865	Y174C	probably damaging	Het
Gabarap	C	T	11: 69,991,689		probably benign	Het
Gdf2	A	G	14: 33,945,241	T307A	probably benign	Het
Gemin4	G	C	11: 76,211,050	P962A	probably damaging	Het
Glyatl3	T	C	17: 40,911,084	D93G	probably benign	Het
Gm266	C	T	12: 111,485,181	R197K	possibly damaging	Het
Gm4907	T	A	X: 23,907,310	V350E	probably benign	Het
Gns	G	A	10: 121,392,778	R498H	probably damaging	Het
Gprasp1	G	A	X: 135,802,042	E995K	possibly damaging	Het
Grk6	T	C	13: 55,454,364	W335R	probably damaging	Het
Helz2	T	C	2: 181,231,380	E2379G	probably benign	Het
Hmx2	A	T	7: 131,555,859	D234V	probably damaging	Het
Ift20	G	A	11: 78,540,034	E68K	probably damaging	Het
Ipo9	ATCCTCCTCCTCCTCCTC	ATCCTCCTCCTCCTCCTCCTC	1: 135,386,268		probably benign	Het
Ipo9	TCC	TCCGCC	1: 135,386,275		probably benign	Het
Ipo9	CCT	CCTTCT	1: 135,386,282		probably benign	Het
Ipo9	A	G	1: 135,402,250	V484A	probably benign	Het
Itpkc	A	G	7: 27,219,650	V397A	possibly damaging	Het
Jarid2	T	A	13: 44,906,276	N661K	probably damaging	Het
Kat5	T	A	19: 5,605,685		probably null	Het
Kctd16	A	G	18: 40,259,178	E273G	possibly damaging	Het
Kdr	T	C	5: 75,968,423	T188A	possibly damaging	Het
Kif18a	T	A	2: 109,333,503	N732K	probably benign	Het
Laptm4b	G	T	15: 34,238,332	M3I	probably benign	Het
Macf1	C	T	4: 123,355,102	C7210Y	probably damaging	Het
Man1a	T	C	10: 53,934,998	N338S	probably damaging	Het
Mical3	A	T	6: 121,031,134		probably null	Het
Micall1	T	C	15: 79,130,795	Y751H	probably damaging	Het
Mki67	A	G	7: 135,695,592	I2571T	possibly damaging	Het
Mx2	G	A	16: 97,538,703	E20K	probably benign	Het
Myh2	A	G	11: 67,189,332	E1124G	probably damaging	Het
Myo10	A	G	15: 25,714,108	E87G	probably benign	Het
Nat10	T	C	2: 103,731,303		probably null	Het
Nipa1	C	A	7: 55,997,511		probably null	Het
Nrbp1	A	G	5: 31,247,929	E287G	possibly damaging	Het
Nup188	T	A	2: 30,336,706	I1165N	possibly damaging	Het
Obsl1	G	A	1: 75,486,756	T1764M	probably benign	Het
Olfr1012	C	T	2: 85,759,677	R233H	probably benign	Het
Olfr115	T	G	17: 37,610,471	E93D	probably benign	Het
Olfr1240	C	T	2: 89,439,583	R232H	probably benign	Het
Olfr1298	C	A	2: 111,645,221	V259L	probably benign	Het
Olfr1383	A	G	11: 49,523,839	I39V	probably benign	Het
Olfr642	C	T	7: 104,050,300	G18D	probably damaging	Het
Olfr786	A	G	10: 129,437,747	K312E	probably benign	Het
Optc	A	T	1: 133,903,796		probably null	Het
Panx3	G	C	9: 37,666,673	S87W	probably damaging	Het
Parp8	T	A	13: 116,894,886	D430V	probably benign	Het
Pcdhb11	A	G	18: 37,422,123	N169D	probably benign	Het
Pdzd2	C	A	15: 12,406,559	G605V	probably damaging	Het
Phkg2	G	A	7: 127,582,214		probably null	Het
Pkhd1	T	A	1: 20,523,895	K1331N	probably benign	Het
Plcb4	G	A	2: 135,976,099	V762M	probably damaging	Het
Plec	T	C	15: 76,183,174	T1331A	probably benign	Het
Pot1a	T	C	6: 25,750,044		probably null	Het
Prb1	T	A	6: 132,207,203	Q489L	unknown	Het
Prelp	C	T	1: 133,915,131	R92K	probably benign	Het
Psme4	A	G	11: 30,820,998	Y782C	possibly damaging	Het
Rab11fip5	T	C	6: 85,337,228		probably null	Het
Ren1	C	G	1: 133,350,778		probably null	Het
Rit2	A	G	18: 31,153,713	F140L	probably benign	Het
Rorc	G	A	3: 94,389,526	R271Q	probably benign	Het
Sall3	A	T	18: 80,969,831	M1130K	probably damaging	Het
Sart3	T	C	5: 113,764,093	E141G	probably damaging	Het
Serpina9	T	C	12: 104,008,309	D195G	probably benign	Het
Slitrk6	T	G	14: 110,750,794	T494P	probably benign	Het
Tarsl2	A	T	7: 65,658,897	I272L	probably benign	Het
Tas2r115	T	C	6: 132,737,358	K210R	probably benign	Het
Tdpoz3	C	T	3: 93,826,899	H294Y	probably benign	Het
Tigd4	A	G	3: 84,594,363	T196A	possibly damaging	Het
Treh	G	A	9: 44,681,141	M54I	probably damaging	Het
Trove2	T	C	1: 143,760,034	D458G	probably benign	Het
Ttn	C	T	2: 76,813,339	G11436R	probably damaging	Het
Ubap1	C	T	4: 41,379,257	A157V	probably damaging	Het
Ubr4	C	T	4: 139,477,207	T4810M	probably damaging	Het
Uhrf1bp1l	A	G	10: 89,812,048	D207G	probably damaging	Het
Xrcc6	T	A	15: 82,022,977	F167I	probably damaging	Het
Zfp281	GCGGCAGCTCCGGCAGC	GCGGCAGCTCCGGCAGCTCCGGCAGC	1: 136,625,353		probably benign	Het
Zfp473	T	C	7: 44,733,077	T610A	possibly damaging	Het
Zfp606	T	C	7: 12,479,726	I4T	probably damaging	Het
Zfp638	T	A	6: 83,986,596	N1918K	probably damaging	Het
Zfp65	G	T	13: 67,708,192	H333N	probably damaging	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
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
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	splice site	probably null
R5698:Atp6v0a4	UTSW	6	38050507	splice site	probably null
R6425:Atp6v0a4	UTSW	6	38050511	missense	possibly damaging	0.88
R7659:Atp6v0a4	UTSW	6	38071972	missense	probably damaging	1.00
R8004:Atp6v0a4	UTSW	6	38050549	missense	possibly damaging	0.93
R8270:Atp6v0a4	UTSW	6	38074229	missense	probably damaging	1.00
R8683:Atp6v0a4	UTSW	6	38048991	makesense	probably null
R9007:Atp6v0a4	UTSW	6	38053053	missense	probably benign
R9359:Atp6v0a4	UTSW	6	38082113	missense	probably benign	0.21
R9475:Atp6v0a4	UTSW	6	38060982	missense	probably damaging	1.00
Z1176:Atp6v0a4	UTSW	6	38049036	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