Mutagenetix > Incidental Mutation

Incidental Mutation 'R9475:Atp6v0a4'

715700

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9475 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

38025418-38101521 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 38037917 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 560 (L560P)

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: L560P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000039381
Gene: ENSMUSG00000038600
AA Change: L560P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000114908
AA Change: L560P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000110558
Gene: ENSMUSG00000038600
AA Change: L560P

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: 98.5%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	A	T	7: 45,665,892 (GRCm39)	W243R	probably damaging	Het
Ablim1	T	G	19: 57,227,612 (GRCm39)	K18Q	probably benign	Het
Adamts18	T	A	8: 114,504,570 (GRCm39)	N174Y	possibly damaging	Het
Afg2a	T	C	3: 37,486,058 (GRCm39)	V260A	probably benign	Het
Agbl2	A	G	2: 90,614,437 (GRCm39)	H23R	probably benign	Het
Akap6	T	G	12: 53,057,335 (GRCm39)	Y934D	probably damaging	Het
Alas1	C	T	9: 106,111,261 (GRCm39)	S635N	probably benign	Het
Ankrd24	A	G	10: 81,478,133 (GRCm39)		probably null	Het
Cacng1	C	T	11: 107,607,118 (GRCm39)	V34M	possibly damaging	Het
Clcn3	C	T	8: 61,387,551 (GRCm39)	A233T	probably damaging	Het
Cntnap3	A	G	13: 64,946,949 (GRCm39)	F160S	probably damaging	Het
Ctnnd2	A	G	15: 30,881,276 (GRCm39)	S719G	probably damaging	Het
Exosc2	G	A	2: 31,564,755 (GRCm39)	V107I	probably benign	Het
Fam83b	C	A	9: 76,399,085 (GRCm39)	V673F	probably benign	Het
Fras1	T	C	5: 96,927,929 (GRCm39)	F3781L	probably damaging	Het
Gal3st1	T	A	11: 3,948,660 (GRCm39)	L289H	probably damaging	Het
Garem1	T	C	18: 21,281,370 (GRCm39)	I329V	probably benign	Het
Gli3	G	A	13: 15,900,296 (GRCm39)	G1228S	possibly damaging	Het
Gpbp1l1	T	C	4: 116,431,558 (GRCm39)	F72S	possibly damaging	Het
Hao1	T	A	2: 134,390,181 (GRCm39)	M53L	probably benign	Het
Hjurp	CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT	C	1: 88,193,999 (GRCm39)		probably benign	Het
Iqcm	A	G	8: 76,480,083 (GRCm39)	E347G	probably damaging	Het
Itpr3	G	A	17: 27,337,651 (GRCm39)		probably benign	Het
Kcnrg	A	G	14: 61,845,106 (GRCm39)	I49V	possibly damaging	Het
Lrrc8e	G	A	8: 4,285,346 (GRCm39)	G524S	probably benign	Het
Lrrn1	A	T	6: 107,545,261 (GRCm39)	Y353F	probably damaging	Het
Mdn1	A	G	4: 32,739,849 (GRCm39)	D3701G	possibly damaging	Het
Mtmr2	A	G	9: 13,716,767 (GRCm39)	T623A	probably benign	Het
Ndst4	C	A	3: 125,508,296 (GRCm39)	S287*	probably null	Het
Ntrk3	A	C	7: 77,952,480 (GRCm39)	M579R	probably benign	Het
Oas1a	G	A	5: 121,037,317 (GRCm39)	L237F	probably damaging	Het
Or2aj4	T	C	16: 19,385,270 (GRCm39)	D121G	probably benign	Het
Or5bw2	A	T	7: 6,573,818 (GRCm39)	Y276F	probably damaging	Het
Or7e166	T	C	9: 19,624,939 (GRCm39)	M272T	probably benign	Het
Paqr5	T	A	9: 61,863,507 (GRCm39)	I272F	probably damaging	Het
Pcdha11	T	A	18: 37,140,591 (GRCm39)	V740E	probably damaging	Het
Pdgfra	A	C	5: 75,328,588 (GRCm39)	N240T	possibly damaging	Het
Plbd2	G	A	5: 120,632,445 (GRCm39)	Q186*	probably null	Het
Plce1	G	A	19: 38,766,337 (GRCm39)	E2121K	possibly damaging	Het
Ppargc1a	C	A	5: 51,653,080 (GRCm39)	G161C	probably damaging	Het
Ptprk	T	C	10: 28,210,476 (GRCm39)	I166T	possibly damaging	Het
Rhox8	GCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	GCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	X: 36,966,991 (GRCm39)		probably benign	Het
Rpap2	T	A	5: 107,768,455 (GRCm39)	L431Q	probably damaging	Het
Rslcan18	T	A	13: 67,250,128 (GRCm39)	K160*	probably null	Het
Sema7a	T	C	9: 57,862,188 (GRCm39)	F180L	probably benign	Het
Sh2d3c	C	T	2: 32,643,039 (GRCm39)	L741F	probably damaging	Het
Shank1	G	A	7: 43,962,342 (GRCm39)	S71N	unknown	Het
Skic2	A	T	17: 35,060,078 (GRCm39)	D897E	probably benign	Het
Skint6	C	T	4: 112,664,037 (GRCm39)		probably null	Het
Slc35f3	T	C	8: 127,108,993 (GRCm39)	S181P	probably damaging	Het
Slc4a9	A	T	18: 36,662,269 (GRCm39)	E127V	probably null	Het
Speg	C	T	1: 75,364,735 (GRCm39)	T372I	probably damaging	Het
Syce1l	A	G	8: 114,381,735 (GRCm39)	T204A	probably benign	Het
Tas2r138	T	A	6: 40,589,392 (GRCm39)	M285L	probably benign	Het
Tbc1d10a	G	C	11: 4,163,604 (GRCm39)	K285N	probably damaging	Het
Trim9	T	A	12: 70,393,228 (GRCm39)	M239L	probably benign	Het
Trp53bp1	A	G	2: 121,039,761 (GRCm39)	S1293P	probably benign	Het
Uaca	C	T	9: 60,779,498 (GRCm39)	T1295M	possibly damaging	Het
Ubald1	G	T	16: 4,693,433 (GRCm39)	Q161K	possibly damaging	Het
Ugt1a10	C	T	1: 88,143,982 (GRCm39)	R201C	probably damaging	Het
Vps45	T	G	3: 95,950,237 (GRCm39)	T231P	probably damaging	Het
Wdr17	A	T	8: 55,088,512 (GRCm39)	D1186E	probably benign	Het
Zfp534	G	A	4: 147,766,731 (GRCm39)	T8I	probably benign	Het
Zfp68	T	C	5: 138,605,517 (GRCm39)	N269D	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
R9007:Atp6v0a4	UTSW	6	38,029,988 (GRCm39)	missense	probably benign
R9359:Atp6v0a4	UTSW	6	38,059,048 (GRCm39)	missense	probably benign	0.21
Z1176:Atp6v0a4	UTSW	6	38,025,971 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- TCCTCATCAGTGCCATCAGG -3'
(R):5'- GGAGCTCTCTGTAGCTGCTTTC -3'

Sequencing Primer
(F):5'- GTAGAAGATGGCTCATCAGTCCTC -3'
(R):5'- AGCTGCTTTCTGTGCTGTATC -3'

Posted On

2022-06-15