Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00709:Atp6v1d'

9140

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Atp6v1d

Ensembl Gene

ENSMUSG00000021114

Gene Name

ATPase, H+ transporting, lysosomal V1 subunit D

Synonyms

1110004P10Rik, lysosomal 34kDa, Atp6m, Vma8, VATD

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00709

Quality Score

Status

Chromosome

Chromosomal Location

78889756-78908810 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 78896528 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 113 (H113R)

Ref Sequence

ENSEMBL: ENSMUSP00000021536 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021536]

AlphaFold

P57746

Predicted Effect

probably benign
Transcript: ENSMUST00000021536
AA Change: H113R

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

SMART Domains

Protein: ENSMUSP00000021536
Gene: ENSMUSG00000021114
AA Change: H113R

Domain	Start	End	E-Value	Type
Pfam:ATP-synt_D	15	207	1.2e-76	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219316

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219377

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 eukaryotic intracellular organelles. V-ATPase dependent organelle 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. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This gene encodes the V1 domain D subunit protein. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 11 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cd59a	A	G	2: 103,944,425 (GRCm39)	N91S	probably benign	Het
Ddx21	C	A	10: 62,434,181 (GRCm39)	E193*	probably null	Het
Mink1	T	A	11: 70,503,845 (GRCm39)	I1255N	probably damaging	Het
Orc1	G	T	4: 108,447,975 (GRCm39)		probably null	Het
Prelid2	T	A	18: 42,045,488 (GRCm39)	N141Y	probably damaging	Het
Rad50	A	G	11: 53,560,469 (GRCm39)	L1051S	possibly damaging	Het
Sidt1	C	T	16: 44,082,374 (GRCm39)		probably benign	Het
Slc25a24	A	G	3: 109,066,670 (GRCm39)	K275E	probably damaging	Het
Stx19	A	G	16: 62,642,943 (GRCm39)	N253S	probably benign	Het
Tanc2	A	G	11: 105,689,621 (GRCm39)	Y261C	probably damaging	Het
Wdr62	A	G	7: 29,941,486 (GRCm39)	L706P	probably benign	Het

Other mutations in Atp6v1d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02319:Atp6v1d	APN	12	78,908,230 (GRCm39)	missense	probably damaging	1.00
IGL03037:Atp6v1d	APN	12	78,904,122 (GRCm39)	unclassified	probably benign
IGL03040:Atp6v1d	APN	12	78,904,122 (GRCm39)	unclassified	probably benign
R1015:Atp6v1d	UTSW	12	78,896,543 (GRCm39)	missense	possibly damaging	0.70
R1203:Atp6v1d	UTSW	12	78,908,214 (GRCm39)	missense	possibly damaging	0.88
R5470:Atp6v1d	UTSW	12	78,892,058 (GRCm39)	missense	probably benign	0.42
R8479:Atp6v1d	UTSW	12	78,896,520 (GRCm39)	missense	probably benign
R9252:Atp6v1d	UTSW	12	78,904,023 (GRCm39)	missense	probably benign	0.00

Posted On

2012-12-06