Mutagenetix > Incidental Mutation

Incidental Mutation 'R7659:Atp6v0a4'

591430

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

045734-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7659 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

38025418-38101521 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 38048907 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 452 (I452T)

Ref Sequence

ENSEMBL: ENSMUSP00000039381 (fasta)

Gene Model

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

AlphaFold

Q920R6

Predicted Effect

probably damaging
Transcript: ENSMUST00000040259
AA Change: I452T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000039381
Gene: ENSMUSG00000038600
AA Change: I452T

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000114908
AA Change: I452T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000110558
Gene: ENSMUSG00000038600
AA Change: I452T

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: 99.2%

Validation Efficiency

100% (66/66)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh2	T	C	5: 121,707,023 (GRCm39)	E498G	probably damaging	Het
Ankar	T	C	1: 72,729,294 (GRCm39)	T284A	possibly damaging	Het
Arid5b	C	T	10: 67,934,417 (GRCm39)	G495E	probably benign	Het
Armh1	C	A	4: 117,070,938 (GRCm39)	A396S	probably benign	Het
Azgp1	G	T	5: 137,985,775 (GRCm39)	A133S	probably damaging	Het
Bmp2k	T	C	5: 97,222,578 (GRCm39)	S667P	unknown	Het
C1qtnf9	T	A	14: 61,009,753 (GRCm39)	I3N	possibly damaging	Het
C530025M09Rik	T	G	2: 149,672,539 (GRCm39)	T199P	unknown	Het
Casc3	C	G	11: 98,700,699 (GRCm39)	R4G	unknown	Het
Cass4	A	G	2: 172,268,947 (GRCm39)	D343G	probably damaging	Het
Cenatac	T	C	9: 44,324,790 (GRCm39)	E164G	probably damaging	Het
Col6a3	T	A	1: 90,709,467 (GRCm39)	T2517S	unknown	Het
Dbr1	A	G	9: 99,458,663 (GRCm39)	T78A	probably damaging	Het
Dnah9	A	G	11: 65,880,606 (GRCm39)	F2664L	probably damaging	Het
Eif2ak1	T	C	5: 143,826,280 (GRCm39)	I431T	probably damaging	Het
Got1	A	G	19: 43,493,078 (GRCm39)	V281A	probably benign	Het
Gpld1	A	C	13: 25,163,964 (GRCm39)	R555S	probably benign	Het
Gpr149	T	C	3: 62,511,256 (GRCm39)	R248G	probably benign	Het
Hps3	G	A	3: 20,076,978 (GRCm39)	R395*	probably null	Het
Inpp5b	T	C	4: 124,689,219 (GRCm39)	L833P	probably damaging	Het
Itgb4	A	T	11: 115,870,557 (GRCm39)	S129C	probably damaging	Het
Kif1a	T	A	1: 92,974,542 (GRCm39)		probably benign	Het
Lgr4	T	A	2: 109,827,111 (GRCm39)	V205E	probably damaging	Het
Mbd3	T	C	10: 80,231,019 (GRCm39)	N96S	probably damaging	Het
Mcam	T	A	9: 44,048,067 (GRCm39)	C136S	unknown	Het
Mki67	A	G	7: 135,299,155 (GRCm39)	S1960P	probably damaging	Het
Mogs	G	A	6: 83,093,806 (GRCm39)		probably null	Het
Muc6	T	C	7: 141,216,973 (GRCm39)	T2567A	possibly damaging	Het
Mug1	C	A	6: 121,838,179 (GRCm39)	H470N	possibly damaging	Het
Nae1	A	G	8: 105,242,796 (GRCm39)	V432A	probably benign	Het
Nav3	T	G	10: 109,602,851 (GRCm39)	T1233P	probably benign	Het
Nme9	G	A	9: 99,352,910 (GRCm39)	A287T	possibly damaging	Het
Nmrk1	A	G	19: 18,613,499 (GRCm39)	I8V	probably benign	Het
Noa1	T	C	5: 77,457,237 (GRCm39)	N223D	not run	Het
Nr4a3	T	C	4: 48,051,269 (GRCm39)	Y8H	probably damaging	Het
Or12e1	T	A	2: 87,022,709 (GRCm39)	V226E	possibly damaging	Het
Or1j15	T	A	2: 36,458,637 (GRCm39)	V9E	possibly damaging	Het
Or2b4	A	T	17: 38,116,054 (GRCm39)	Q6L	probably benign	Het
Or4n4b	T	C	14: 50,536,698 (GRCm39)	I23V	probably benign	Het
Or4p20	T	C	2: 88,254,270 (GRCm39)	Y33C	probably damaging	Het
Or52h2	T	C	7: 103,839,394 (GRCm39)	S7G	probably benign	Het
Or7g29	C	T	9: 19,286,854 (GRCm39)	A108T	probably benign	Het
Or8c9	T	C	9: 38,241,012 (GRCm39)	V40A	possibly damaging	Het
Otoa	T	A	7: 120,733,267 (GRCm39)	H711Q	probably benign	Het
Otogl	T	A	10: 107,612,981 (GRCm39)	E2048D	probably benign	Het
Paip1	C	T	13: 119,587,306 (GRCm39)	T390I	possibly damaging	Het
Pcdha3	A	G	18: 37,081,219 (GRCm39)	T654A	probably benign	Het
Pigg	G	A	5: 108,486,485 (GRCm39)	V713I	probably benign	Het
Ppt1	T	A	4: 122,730,126 (GRCm39)	H26Q	probably benign	Het
Prim1	T	C	10: 127,862,458 (GRCm39)		probably null	Het
Prmt7	G	T	8: 106,963,918 (GRCm39)	A271S	probably benign	Het
Ptprd	T	C	4: 76,047,153 (GRCm39)	D124G	probably benign	Het
Rad54l2	T	C	9: 106,590,777 (GRCm39)	K450E	probably benign	Het
Rasgrp2	G	T	19: 6,451,857 (GRCm39)	V13L	probably damaging	Het
Sapcd2	A	G	2: 25,265,978 (GRCm39)		probably null	Het
Siglecf	A	G	7: 43,001,194 (GRCm39)	Y54C	probably damaging	Het
Stk31	T	A	6: 49,400,340 (GRCm39)	N388K	probably benign	Het
Timm23	A	C	14: 31,920,935 (GRCm39)	Y52*	probably null	Het
Tm9sf1	A	T	14: 55,873,792 (GRCm39)	F569I	probably damaging	Het
Tmprss9	C	A	10: 80,728,843 (GRCm39)	A592E	probably damaging	Het
Trim30d	A	T	7: 104,121,554 (GRCm39)	V397E	probably benign	Het
Tshz1	A	T	18: 84,034,200 (GRCm39)	N69K	probably damaging	Het
Upk2	A	C	9: 44,364,808 (GRCm39)	S130R	probably damaging	Het
Vmn1r80	A	G	7: 11,926,977 (GRCm39)	Y29C	probably damaging	Het
Vmn2r96	T	C	17: 18,793,749 (GRCm39)	I31T	probably benign	Het
Zfp975	T	C	7: 42,311,848 (GRCm39)	Q255R	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
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'- AGCCCTGCAGTCTTTGGATG -3'
(R):5'- TGCACAGTGAATAAATGCCCAGG -3'

Sequencing Primer
(F):5'- CTTTGGATGGCCTGCAAGC -3'
(R):5'- AGCTGACCTACATAAGCTCGTGTG -3'

Posted On

2019-11-12