Mutagenetix > Incidental Mutation

Incidental Mutation 'R9007:Atp6v0a4'

685360

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

068837-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9007 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

38025418-38101521 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 38029988 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 692 (K692R)

Ref Sequence

ENSEMBL: ENSMUSP00000039381 (fasta)

Gene Model

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

AlphaFold

Q920R6

Predicted Effect

probably benign
Transcript: ENSMUST00000040259
AA Change: K692R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000039381
Gene: ENSMUSG00000038600
AA Change: K692R

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

Predicted Effect

probably benign
Transcript: ENSMUST00000114908
AA Change: K692R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000110558
Gene: ENSMUSG00000038600
AA Change: K692R

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: 99.7%
20x: 99.0%

Validation Efficiency

100% (60/60)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	T	A	17: 9,226,935 (GRCm39)	C497S	probably benign	Het
4930453N24Rik	A	T	16: 64,589,377 (GRCm39)	Y92*	probably null	Het
Adam3	A	G	8: 25,205,127 (GRCm39)	V117A	probably benign	Het
Amer2	G	C	14: 60,617,376 (GRCm39)	D524H	probably damaging	Het
Armh4	T	A	14: 50,011,695 (GRCm39)	D4V	probably damaging	Het
Atp8b1	A	G	18: 64,684,931 (GRCm39)	V730A	probably benign	Het
Bdh2	T	C	3: 134,991,309 (GRCm39)		probably benign	Het
Ccnd3	T	A	17: 47,905,332 (GRCm39)		probably null	Het
Chrm4	T	C	2: 91,758,075 (GRCm39)	V161A	possibly damaging	Het
Csmd3	T	C	15: 47,751,892 (GRCm39)		probably benign	Het
D430041D05Rik	A	G	2: 104,087,930 (GRCm39)	S349P	probably benign	Het
Ddx55	A	G	5: 124,697,370 (GRCm39)	N244S	probably damaging	Het
Dock1	A	G	7: 134,500,825 (GRCm39)		probably benign	Het
Dppa3	T	C	6: 122,605,724 (GRCm39)	S93P	probably damaging	Het
Echdc1	T	C	10: 29,220,426 (GRCm39)	I217T	probably damaging	Het
Fpr-rs4	T	A	17: 18,242,416 (GRCm39)	L141Q	probably damaging	Het
Galnt15	T	C	14: 31,771,935 (GRCm39)	F451L	probably damaging	Het
Galnt9	G	A	5: 110,692,665 (GRCm39)	R33H	probably benign	Het
Iah1	G	A	12: 21,367,402 (GRCm39)	G36D	probably damaging	Het
Jakmip1	A	G	5: 37,332,857 (GRCm39)	D1179G	probably benign	Het
Kcnh1	A	G	1: 192,188,055 (GRCm39)	T866A	probably benign	Het
Kcnq4	T	A	4: 120,555,150 (GRCm39)	I678F	probably benign	Het
Lars2	A	T	9: 123,260,980 (GRCm39)	R384*	probably null	Het
Lman2	T	C	13: 55,500,773 (GRCm39)	D142G	probably damaging	Het
Lrp1b	T	C	2: 40,587,564 (GRCm39)	D3897G		Het
Lrrn1	T	A	6: 107,544,820 (GRCm39)	I206N	probably damaging	Het
Mapkbp1	T	A	2: 119,850,143 (GRCm39)	L802H	probably damaging	Het
Meaf6	T	C	4: 125,001,450 (GRCm39)		probably benign	Het
Mier2	G	A	10: 79,384,274 (GRCm39)	R166W	probably damaging	Het
Mis18bp1	G	A	12: 65,180,616 (GRCm39)	S955L	probably benign	Het
Mocs1	T	A	17: 49,756,819 (GRCm39)	M267K	probably damaging	Het
Mroh3	T	A	1: 136,128,110 (GRCm39)	Y263F	probably damaging	Het
Ndufs1	A	T	1: 63,198,878 (GRCm39)		probably benign	Het
Nuak1	T	C	10: 84,210,492 (GRCm39)	Y532C	probably damaging	Het
Or51b6	A	G	7: 103,556,165 (GRCm39)	H170R		Het
Or6c205	A	T	10: 129,086,669 (GRCm39)	T89S	possibly damaging	Het
Ost4	A	G	5: 31,064,866 (GRCm39)	V5A	possibly damaging	Het
P2rx1	T	A	11: 72,900,059 (GRCm39)	C159S	probably damaging	Het
Paqr8	T	C	1: 21,005,614 (GRCm39)	L256P	possibly damaging	Het
Pgls	T	A	8: 72,048,689 (GRCm39)		probably benign	Het
Pkd2l1	T	C	19: 44,140,864 (GRCm39)	E566G	possibly damaging	Het
Plau	A	T	14: 20,889,613 (GRCm39)	H226L	probably damaging	Het
Rps18-ps5	A	G	13: 28,441,872 (GRCm39)	N85S	probably damaging	Het
Rraga	T	C	4: 86,494,675 (GRCm39)	S174P	probably damaging	Het
Sacs	T	A	14: 61,445,185 (GRCm39)	D2410E	probably benign	Het
Sgms1	A	T	19: 32,137,227 (GRCm39)	M113K	probably benign	Het
Skint6	C	A	4: 113,095,347 (GRCm39)	G104V	probably damaging	Het
Spata31f1e	C	T	4: 42,792,546 (GRCm39)	G529S	probably benign	Het
Sqor	T	A	2: 122,649,876 (GRCm39)	Y373*	probably null	Het
Stra6l	T	A	4: 45,864,910 (GRCm39)	S79T	possibly damaging	Het
Svep1	T	C	4: 58,091,915 (GRCm39)	I1573M	possibly damaging	Het
Syne2	A	G	12: 76,146,224 (GRCm39)	D1674G	possibly damaging	Het
Tex26	C	A	5: 149,376,884 (GRCm39)	T91N	probably damaging	Het
Tigd2	T	G	6: 59,187,887 (GRCm39)	S251R	probably damaging	Het
Tmco1	C	T	1: 167,136,132 (GRCm39)		probably benign	Het
Tnks1bp1	T	A	2: 84,901,048 (GRCm39)	L1585Q	probably damaging	Het
Trmt10c	A	G	16: 55,855,542 (GRCm39)	V31A	probably benign	Het
Ttc41	T	C	10: 86,569,625 (GRCm39)	S668P	probably damaging	Het
Uggt2	A	T	14: 119,326,724 (GRCm39)	D162E	probably damaging	Het
Vmn1r125	G	C	7: 21,006,503 (GRCm39)	V134L	probably benign	Het
Vmn1r225	T	A	17: 20,723,449 (GRCm39)	F297I	probably damaging	Het
Vps13c	A	G	9: 67,845,006 (GRCm39)	D2030G	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
R8683:Atp6v0a4	UTSW	6	38,025,926 (GRCm39)	makesense	probably null
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'- TCTAGCCTGTGCCTGAGTTC -3'
(R):5'- TACCTAGCTGACATTGAGTGAGG -3'

Sequencing Primer
(F):5'- CCTGAGTTCATTCAGACAGGATG -3'
(R):5'- GCTGGCCTTGAACTCAGAAATCTG -3'

Posted On

2021-10-11