Mutagenetix > Incidental Mutation

Incidental Mutation 'R8683:Atp6v0a4'

661869

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

068538-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8683 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

38025418-38101521 bp(-) (GRCm39)

Type of Mutation

makesense

DNA Base Change (assembly)

T to A at 38025926 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Leucine at position 834 (*834L)

Ref Sequence

ENSEMBL: ENSMUSP00000039381 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040259] [ENSMUST00000096040] [ENSMUST00000114908]

AlphaFold

Q920R6

Predicted Effect

probably null
Transcript: ENSMUST00000040259
AA Change: *834L

SMART Domains

Protein: ENSMUSP00000039381
Gene: ENSMUSG00000038600
AA Change: *834L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000096040

SMART Domains

Protein: ENSMUSP00000093743
Gene: ENSMUSG00000029830

Domain	Start	End	E-Value	Type
Pfam:Sugar_tr	17	297	5.5e-20	PFAM
Pfam:MFS_1	50	308	2.1e-20	PFAM
transmembrane domain	349	371	N/A	INTRINSIC
transmembrane domain	384	406	N/A	INTRINSIC
transmembrane domain	459	481	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000114908
AA Change: *834L

SMART Domains

Protein: ENSMUSP00000110558
Gene: ENSMUSG00000038600
AA Change: *834L

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars1	A	G	8: 111,768,881 (GRCm39)	D227G	possibly damaging	Het
Actl11	T	A	9: 107,806,065 (GRCm39)	D129E	probably benign	Het
Adam12	T	A	7: 133,491,929 (GRCm39)	E877D	possibly damaging	Het
Adarb2	T	A	13: 8,807,395 (GRCm39)	V732E	probably damaging	Het
Adcy1	T	C	11: 7,111,328 (GRCm39)	I873T	probably damaging	Het
Adgrg1	C	T	8: 95,736,276 (GRCm39)	H477Y	probably damaging	Het
Ahctf1	T	C	1: 179,623,321 (GRCm39)	E99G	possibly damaging	Het
Ankk1	T	A	9: 49,329,292 (GRCm39)	M93L		Het
Ankmy1	A	T	1: 92,812,972 (GRCm39)	L446M	possibly damaging	Het
Anxa10	T	A	8: 62,510,825 (GRCm39)	Y309F	probably damaging	Het
Arg2	C	T	12: 79,196,794 (GRCm39)	Q172*	probably null	Het
Avl9	T	A	6: 56,730,378 (GRCm39)	S574T	probably benign	Het
AW551984	G	A	9: 39,511,005 (GRCm39)	T194I	possibly damaging	Het
Azin1	G	A	15: 38,493,775 (GRCm39)	L283F	probably damaging	Het
Birc6	G	A	17: 74,916,114 (GRCm39)	A1677T	possibly damaging	Het
Carm1	A	T	9: 21,497,464 (GRCm39)	D342V	possibly damaging	Het
Ccr4	T	C	9: 114,321,216 (GRCm39)	D283G	probably damaging	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 105,036,102 (GRCm39)		probably benign	Het
Cntn2	A	T	1: 132,450,731 (GRCm39)	L548Q	probably damaging	Het
Copg1	A	G	6: 87,869,637 (GRCm39)	D172G	probably damaging	Het
Cyp2j12	T	A	4: 96,009,805 (GRCm39)	N185Y	probably benign	Het
Dapk3	T	C	10: 81,026,069 (GRCm39)	L120P	probably damaging	Het
Dclre1b	A	C	3: 103,711,298 (GRCm39)	S204R	probably damaging	Het
Dennd2a	G	A	6: 39,500,137 (GRCm39)	R143*	probably null	Het
Dnah5	A	T	15: 28,289,367 (GRCm39)	E1185D	probably benign	Het
Dop1b	C	T	16: 93,568,699 (GRCm39)	T1587I	probably damaging	Het
Dop1b	A	G	16: 93,570,809 (GRCm39)	T1603A	probably benign	Het
Dym	T	A	18: 75,363,089 (GRCm39)	V531E	probably damaging	Het
Dync2i1	G	T	12: 116,193,262 (GRCm39)	D563E	probably benign	Het
Ecpas	T	C	4: 58,834,515 (GRCm39)	S788G	probably benign	Het
Eif2b4	A	T	5: 31,345,274 (GRCm39)	F453L	probably damaging	Het
Entpd8	G	A	2: 24,974,992 (GRCm39)	G441D	probably damaging	Het
Galnt6	A	T	15: 100,592,603 (GRCm39)	Y535N	probably damaging	Het
Garin2	TGATGTCACAGATGTCAC	TGATGTCAC	12: 78,762,057 (GRCm39)		probably benign	Het
Gm10340	T	A	14: 14,826,748 (GRCm39)	D72E	possibly damaging	Het
Gm13102	T	A	4: 143,835,680 (GRCm39)	D449E	probably damaging	Het
Hdac9	T	A	12: 34,440,220 (GRCm39)	K386N	probably damaging	Het
Hgs	T	A	11: 120,366,044 (GRCm39)	C212*	probably null	Het
Hoxa2	C	A	6: 52,141,540 (GRCm39)	A29S	possibly damaging	Het
Ifnar1	T	A	16: 91,296,332 (GRCm39)	W278R	probably damaging	Het
Irf7	C	T	7: 140,843,422 (GRCm39)	G389R	probably null	Het
Lipo3	G	A	19: 33,759,604 (GRCm39)	L211F	probably benign	Het
Mars2	C	T	1: 55,277,741 (GRCm39)	T448I	probably benign	Het
Mcm4	C	A	16: 15,453,138 (GRCm39)	G184C	probably damaging	Het
Mmaa	C	T	8: 79,994,598 (GRCm39)	A403T	probably damaging	Het
Mmel1	A	G	4: 154,973,985 (GRCm39)	I342V	probably benign	Het
Myb	T	C	10: 21,026,405 (GRCm39)	T188A	possibly damaging	Het
Myo1g	C	T	11: 6,467,569 (GRCm39)		probably null	Het
Npas2	A	G	1: 39,386,708 (GRCm39)	Q659R	probably benign	Het
Npr1	A	G	3: 90,362,497 (GRCm39)	V941A	probably benign	Het
Numa1	T	G	7: 101,626,617 (GRCm39)	M1R	probably null	Het
Obscn	T	C	11: 58,967,705 (GRCm39)	S2700G	probably benign	Het
Or2t35	T	A	14: 14,407,480 (GRCm38)	L84H	probably benign	Het
Or4k2	A	T	14: 50,424,203 (GRCm39)	M157K	possibly damaging	Het
Or5g25	A	T	2: 85,478,410 (GRCm39)	I85N	probably benign	Het
Pdpr	T	A	8: 111,850,492 (GRCm39)	H476Q	probably damaging	Het
Pkd1l1	A	T	11: 8,821,805 (GRCm39)	S1630T		Het
Prdm16	A	G	4: 154,613,161 (GRCm39)	S89P	probably damaging	Het
Ptgdr2	T	A	19: 10,917,893 (GRCm39)	W137R	possibly damaging	Het
Ptpra	A	G	2: 130,394,187 (GRCm39)	I784V	possibly damaging	Het
Rabepk	G	T	2: 34,685,188 (GRCm39)	D77E	possibly damaging	Het
Sh2b1	GGGGACCAGCTCAGCCACGGGGACCAGCTC	GGGGACCAGCTCAGCCACAGGGACCAGCTCAGCCACGGGGACCAGCTC	7: 126,066,743 (GRCm39)		probably benign	Het
Smc3	T	A	19: 53,629,616 (GRCm39)	S994T	possibly damaging	Het
Sparc	A	G	11: 55,292,783 (GRCm39)	C147R	probably damaging	Het
Supt6	A	T	11: 78,108,727 (GRCm39)	D1191E	probably benign	Het
Susd4	T	C	1: 182,719,832 (GRCm39)		probably null	Het
Tbc1d5	A	G	17: 51,291,631 (GRCm39)		probably null	Het
Tecta	T	G	9: 42,278,268 (GRCm39)	D1080A	probably damaging	Het
Tenm4	G	T	7: 96,552,064 (GRCm39)	W2538L	probably damaging	Het
Trappc9	A	G	15: 72,884,664 (GRCm39)	F439L	probably benign	Het
Tsbp1	A	T	17: 34,667,782 (GRCm39)	Q158L	possibly damaging	Het
Vegfa	A	T	17: 46,342,396 (GRCm39)	S141T	probably benign	Het
Vmn2r9	T	A	5: 108,996,873 (GRCm39)	D132V	probably benign	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
R2142:Atp6v0a4	UTSW	6	38,059,871 (GRCm39)	nonsense	probably null
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
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'- AAGACTACACATGAAGTCCGAATG -3'
(R):5'- GTCATCTGGTTCCCATGGTG -3'

Sequencing Primer
(F):5'- GTCCGAATGATTCACCAAAGTAG -3'
(R):5'- CCCATGGTGTTCTGCGC -3'

Posted On

2021-03-08