Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01934:Atp6v0a4'

180558

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Atp6v0a4

Ensembl Gene

ENSMUSG00000038600

Gene Name

ATPase, H+ transporting, lysosomal V0 subunit A4

Synonyms

V-ATPase alpha 4, Atp6n1b

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01934

Quality Score

Status

Chromosome

Chromosomal Location

38048483-38124586 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 38051546 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 712 (I712F)

Ref Sequence

ENSEMBL: ENSMUSP00000110558 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000040259
AA Change: I712F

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000039381
Gene: ENSMUSG00000038600
AA Change: I712F

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000040486

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

possibly damaging
Transcript: ENSMUST00000114908
AA Change: I712F

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000110558
Gene: ENSMUSG00000038600
AA Change: I712F

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132736

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135594

Coding Region Coverage

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931414P19Rik	T	C	14: 54,585,655	K362E	probably damaging	Het
4932438H23Rik	T	A	16: 91,055,865	T128S	probably damaging	Het
Aars	T	A	8: 111,048,018	I593N	probably damaging	Het
Abca6	A	T	11: 110,188,655	N1224K	probably benign	Het
Abcc5	A	T	16: 20,422,441		probably benign	Het
Adam7	A	G	14: 68,532,599	L35P	probably damaging	Het
Ahnak	T	A	19: 9,002,657	L435Q	probably damaging	Het
Ankef1	A	G	2: 136,552,531	E620G	possibly damaging	Het
Ap3d1	A	T	10: 80,709,258	L1082*	probably null	Het
Bco1	T	A	8: 117,096,045	F5L	possibly damaging	Het
Cacna2d4	A	T	6: 119,308,768	S794C	probably damaging	Het
Camk2d	T	C	3: 126,834,655		probably null	Het
Capn15	T	C	17: 25,963,024	T604A	probably damaging	Het
Cd180	A	T	13: 102,702,858	D83V	probably damaging	Het
Ces1a	C	A	8: 93,032,650	R286L	probably damaging	Het
Col6a6	A	G	9: 105,698,659		probably null	Het
Crnkl1	A	G	2: 145,931,282	V148A	probably benign	Het
Epas1	A	T	17: 86,823,729	K312N	probably damaging	Het
Fbxw2	T	C	2: 34,822,606	S148G	probably damaging	Het
Fig4	T	C	10: 41,228,112	T791A	probably benign	Het
Galnt9	A	T	5: 110,602,636	I340F	possibly damaging	Het
Gfap	G	A	11: 102,894,460	A230V	probably damaging	Het
Gm10718	A	T	9: 3,025,118	Y194F	probably benign	Het
Gm454	T	C	5: 138,207,162		noncoding transcript	Het
Il24	A	T	1: 130,883,877	L115Q	probably damaging	Het
Ipp	C	A	4: 116,510,655	N28K	probably damaging	Het
Kalrn	A	T	16: 34,198,512		probably null	Het
Klf10	C	T	15: 38,297,284	V171M	probably benign	Het
Man1b1	T	C	2: 25,345,511	S350P	probably benign	Het
Mfsd4a	T	C	1: 132,046,311	Y343C	probably damaging	Het
Mrpl58	C	A	11: 115,410,729		probably benign	Het
Myo7b	A	G	18: 32,001,341		probably null	Het
Nbas	T	C	12: 13,289,879		probably benign	Het
Nisch	A	G	14: 31,176,739		probably benign	Het
Olfr494	A	G	7: 108,368,161	I224V	probably damaging	Het
Olfr619	T	C	7: 103,603,975	F107S	probably damaging	Het
Olfr97	A	T	17: 37,231,548	V274D	probably damaging	Het
Parva	T	A	7: 112,588,553	C352*	probably null	Het
Ptf1a	T	A	2: 19,446,620	C254S	possibly damaging	Het
R3hdm1	G	T	1: 128,236,535	R1062L	probably benign	Het
Rnf44	A	G	13: 54,681,950	V407A	probably damaging	Het
Shank3	T	C	15: 89,549,846	L1598P	probably damaging	Het
Slit2	T	C	5: 48,238,405	S717P	possibly damaging	Het
Svs1	A	T	6: 48,988,761	I568F	probably damaging	Het
Tdpoz4	A	G	3: 93,797,472	K359E	probably damaging	Het
Tmtc4	A	T	14: 122,927,635	L604*	probably null	Het
Tnfrsf21	A	T	17: 43,065,187	N488I	probably benign	Het
Tnfsf8	A	G	4: 63,834,510		probably benign	Het
Tnpo3	A	T	6: 29,575,020	L382M	probably benign	Het
Tut1	T	C	19: 8,953,991	C18R	probably damaging	Het
Ugt8a	A	G	3: 125,914,775	S229P	probably benign	Het
Usp22	T	C	11: 61,155,288	E476G	probably damaging	Het
Vill	G	T	9: 119,066,809	A146S	probably damaging	Het
Vmn1r178	T	C	7: 23,893,937	Y137H	probably damaging	Het
Wdfy1	A	T	1: 79,740,116	W51R	probably damaging	Het
Zc3hav1	A	T	6: 38,319,833		probably null	Het
Zfp236	A	T	18: 82,633,120	V889E	probably damaging	Het
Zscan20	T	C	4: 128,592,484	D141G	possibly 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
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
R2142:Atp6v0a4	UTSW	6	38082936	nonsense	probably null
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
Z1176:Atp6v0a4	UTSW	6	38049036	missense	possibly damaging	0.95

Posted On

2014-05-07