Mutagenetix > Incidental Mutation

Incidental Mutation 'R0125:Atp6v0a1'

21313

Institutional Source

Beutler Lab

Gene Symbol

Atp6v0a1

Ensembl Gene

ENSMUSG00000019302

Gene Name

ATPase, H+ transporting, lysosomal V0 subunit A1

Synonyms

V-ATPase a1, Vpp-1, Vpp1, Atp6n1, Atp6n1a

MMRRC Submission

038410-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0125 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

100900278-100954545 bp(+) (GRCm39)

Type of Mutation

splice site (4 bp from exon)

DNA Base Change (assembly)

A to G at 100929677 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000131848 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044721] [ENSMUST00000092663] [ENSMUST00000103110] [ENSMUST00000168757]

AlphaFold

Q9Z1G4

Predicted Effect

probably null
Transcript: ENSMUST00000044721

SMART Domains

Protein: ENSMUSP00000044838
Gene: ENSMUSG00000019302

Domain	Start	End	E-Value	Type
Pfam:V_ATPase_I	26	829	N/A	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000092663

SMART Domains

Protein: ENSMUSP00000090333
Gene: ENSMUSG00000019302

Domain	Start	End	E-Value	Type
Pfam:V_ATPase_I	26	823	N/A	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000103110

SMART Domains

Protein: ENSMUSP00000099399
Gene: ENSMUSG00000019302

Domain	Start	End	E-Value	Type
Pfam:V_ATPase_I	27	829	N/A	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127810

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139857

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154896

Predicted Effect

probably null
Transcript: ENSMUST00000168757

SMART Domains

Protein: ENSMUSP00000131848
Gene: ENSMUSG00000019302

Domain	Start	End	E-Value	Type
Pfam:V_ATPase_I	26	829	N/A	PFAM

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 94.7%
20x: 87.1%

Validation Efficiency

98% (96/98)

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 one of three A subunit proteins and the encoded protein is associated with clathrin-coated vesicles. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930012K11Rik	T	C	14: 70,394,096 (GRCm39)		probably benign	Het
Adam23	T	C	1: 63,573,515 (GRCm39)	L261P	probably benign	Het
Adgra3	G	A	5: 50,159,194 (GRCm39)		probably benign	Het
Agtr1b	A	G	3: 20,369,704 (GRCm39)	F301L	probably benign	Het
Ahnak2	G	A	12: 112,748,776 (GRCm39)	T357I	probably benign	Het
Aldh1a7	T	C	19: 20,704,430 (GRCm39)		probably benign	Het
Apoh	A	T	11: 108,302,899 (GRCm39)	N288I	probably damaging	Het
Arfgap3	A	G	15: 83,227,340 (GRCm39)	V24A	probably benign	Het
Axl	A	T	7: 25,486,368 (GRCm39)	M112K	probably benign	Het
Bnc2	A	C	4: 84,211,169 (GRCm39)	I425S	probably damaging	Het
Ccn4	T	C	15: 66,789,194 (GRCm39)	S227P	possibly damaging	Het
Cdc42bpa	C	T	1: 179,788,763 (GRCm39)	T30M	probably damaging	Het
Cebpz	C	A	17: 79,227,317 (GRCm39)	R1051M	possibly damaging	Het
Ces1d	A	C	8: 93,901,810 (GRCm39)		probably benign	Het
Chd1l	T	C	3: 97,494,465 (GRCm39)	N405S	probably benign	Het
Chodl	G	T	16: 78,738,311 (GRCm39)	G93V	probably damaging	Het
Cpeb2	C	T	5: 43,395,743 (GRCm39)		probably benign	Het
Crebbp	A	G	16: 3,935,105 (GRCm39)		probably benign	Het
Crybb3	T	C	5: 113,227,675 (GRCm39)	T49A	possibly damaging	Het
Ctps1	A	G	4: 120,418,722 (GRCm39)		probably benign	Het
Cyp26b1	A	G	6: 84,551,497 (GRCm39)	Y240H	probably damaging	Het
Cyp2d11	A	C	15: 82,273,422 (GRCm39)	V483G	probably benign	Het
Dennd2b	T	C	7: 109,155,545 (GRCm39)	K402E	probably benign	Het
Dnah14	A	T	1: 181,579,628 (GRCm39)	N3054Y	probably damaging	Het
Dspp	A	C	5: 104,325,905 (GRCm39)	D756A	unknown	Het
Dst	T	C	1: 34,309,984 (GRCm39)	S1553P	probably damaging	Het
Elp4	A	G	2: 105,622,559 (GRCm39)		probably null	Het
Eml6	G	T	11: 29,832,088 (GRCm39)	T194K	probably benign	Het
Evi5	A	G	5: 107,943,638 (GRCm39)	I569T	probably benign	Het
Fancm	C	T	12: 65,168,730 (GRCm39)	P1698S	possibly damaging	Het
Fhdc1	T	C	3: 84,352,852 (GRCm39)	D791G	probably benign	Het
Frem1	A	G	4: 82,930,188 (GRCm39)	Y253H	probably damaging	Het
Gpn3	A	G	5: 122,519,481 (GRCm39)	Y196C	probably benign	Het
Hcls1	A	G	16: 36,782,525 (GRCm39)	D398G	probably benign	Het
Hydin	T	C	8: 111,189,163 (GRCm39)	V1189A	probably benign	Het
Itgb3	G	A	11: 104,534,789 (GRCm39)	D549N	probably damaging	Het
Itpr2	A	G	6: 146,141,951 (GRCm39)	F1697S	probably benign	Het
Klk1b11	A	G	7: 43,648,475 (GRCm39)	T161A	probably benign	Het
Kntc1	G	A	5: 123,903,120 (GRCm39)		probably benign	Het
Map3k19	A	T	1: 127,750,837 (GRCm39)	F838Y	probably benign	Het
Map6	T	A	7: 98,985,187 (GRCm39)		probably null	Het
Mcrs1	A	G	15: 99,142,608 (GRCm39)		probably benign	Het
Mdn1	A	T	4: 32,729,956 (GRCm39)	Y2766F	probably damaging	Het
Med23	C	T	10: 24,776,686 (GRCm39)	H739Y	probably damaging	Het
Mmp17	T	A	5: 129,671,646 (GRCm39)	D65E	possibly damaging	Het
Mmp9	T	A	2: 164,793,177 (GRCm39)	L442Q	probably damaging	Het
Myo19	T	C	11: 84,779,001 (GRCm39)		probably benign	Het
Nedd1	A	C	10: 92,527,791 (GRCm39)	S468A	possibly damaging	Het
Niban2	T	A	2: 32,813,833 (GRCm39)	V682D	probably benign	Het
Nlrp4d	A	C	7: 10,116,316 (GRCm39)	V152G	probably damaging	Het
Nxf1	T	A	19: 8,740,170 (GRCm39)	D112E	probably benign	Het
Oas1h	A	T	5: 121,000,626 (GRCm39)	K79*	probably null	Het
Omg	T	A	11: 79,393,679 (GRCm39)	I60F	possibly damaging	Het
Or5p69	A	G	7: 107,967,576 (GRCm39)	Y293C	probably damaging	Het
Or8b101	A	G	9: 38,020,815 (GRCm39)	T278A	probably benign	Het
Or8b1b	T	A	9: 38,375,757 (GRCm39)	L140*	probably null	Het
Pck1	G	A	2: 172,997,874 (GRCm39)	W314*	probably null	Het
Pla2g15	T	C	8: 106,889,756 (GRCm39)	Y343H	probably benign	Het
Plcb3	T	C	19: 6,936,276 (GRCm39)	E749G	probably damaging	Het
Plgrkt	A	G	19: 29,328,442 (GRCm39)		probably null	Het
Pprc1	A	G	19: 46,057,951 (GRCm39)		probably benign	Het
Prkdc	A	T	16: 15,516,871 (GRCm39)	I1082F	probably damaging	Het
Rapgef6	T	A	11: 54,516,701 (GRCm39)	Y172*	probably null	Het
Ros1	G	T	10: 52,001,885 (GRCm39)	A1079D	probably benign	Het
Sap30	T	C	8: 57,938,545 (GRCm39)	E147G	probably null	Het
Sell	T	C	1: 163,899,674 (GRCm39)		probably benign	Het
Senp1	A	T	15: 97,946,112 (GRCm39)	D544E	probably damaging	Het
Shpk	G	A	11: 73,105,048 (GRCm39)		probably benign	Het
Slc35b1	A	T	11: 95,277,353 (GRCm39)	T74S	probably benign	Het
Slc6a3	T	A	13: 73,718,098 (GRCm39)		probably benign	Het
Slf1	T	C	13: 77,191,864 (GRCm39)	N990S	probably benign	Het
Smgc	A	G	15: 91,738,746 (GRCm39)		probably benign	Het
Snx19	T	A	9: 30,351,515 (GRCm39)	V861D	probably damaging	Het
Sprr2e	C	T	3: 92,260,285 (GRCm39)	P39S	unknown	Het
Sstr2	T	A	11: 113,515,303 (GRCm39)	M74K	probably damaging	Het
Svep1	T	C	4: 58,099,937 (GRCm39)		probably benign	Het
Tas2r143	A	G	6: 42,377,889 (GRCm39)	I240V	probably benign	Het
Tbrg1	T	C	9: 37,563,937 (GRCm39)	I233V	probably benign	Het
Tecpr1	G	T	5: 144,134,717 (GRCm39)	D1055E	probably damaging	Het
Thap2	A	T	10: 115,212,277 (GRCm39)		probably null	Het
Tinagl1	A	G	4: 130,060,101 (GRCm39)	Y388H	probably damaging	Het
Ttn	T	A	2: 76,585,896 (GRCm39)	Y21945F	probably damaging	Het
Ugt2b1	A	T	5: 87,073,961 (GRCm39)	W133R	probably benign	Het
Usp24	C	T	4: 106,254,496 (GRCm39)	P1491L	possibly damaging	Het
Utp15	A	G	13: 98,387,390 (GRCm39)	S395P	possibly damaging	Het
Vav1	T	A	17: 57,606,847 (GRCm39)	L254Q	probably damaging	Het
Vmn2r104	T	C	17: 20,250,069 (GRCm39)	Y734C	probably damaging	Het
Vps8	T	A	16: 21,288,904 (GRCm39)	V421E	probably benign	Het
Xkr7	G	T	2: 152,874,346 (GRCm39)	A138S	probably benign	Het

Other mutations in Atp6v0a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00687:Atp6v0a1	APN	11	100,921,331 (GRCm39)	critical splice donor site	probably null
IGL01024:Atp6v0a1	APN	11	100,939,265 (GRCm39)	missense	probably benign	0.00
IGL01390:Atp6v0a1	APN	11	100,934,628 (GRCm39)	missense	probably benign	0.01
IGL02214:Atp6v0a1	APN	11	100,930,666 (GRCm39)	missense	probably benign	0.01
IGL02639:Atp6v0a1	APN	11	100,946,344 (GRCm39)	missense	possibly damaging	0.90
R0193:Atp6v0a1	UTSW	11	100,939,308 (GRCm39)	missense	possibly damaging	0.90
R0265:Atp6v0a1	UTSW	11	100,939,341 (GRCm39)	missense	possibly damaging	0.80
R0973:Atp6v0a1	UTSW	11	100,946,317 (GRCm39)	nonsense	probably null
R0973:Atp6v0a1	UTSW	11	100,946,317 (GRCm39)	nonsense	probably null
R0974:Atp6v0a1	UTSW	11	100,946,317 (GRCm39)	nonsense	probably null
R1460:Atp6v0a1	UTSW	11	100,924,824 (GRCm39)	missense	probably damaging	1.00
R1580:Atp6v0a1	UTSW	11	100,920,030 (GRCm39)	missense	probably damaging	1.00
R1625:Atp6v0a1	UTSW	11	100,946,380 (GRCm39)	missense	probably damaging	1.00
R1644:Atp6v0a1	UTSW	11	100,929,612 (GRCm39)	missense	possibly damaging	0.65
R1779:Atp6v0a1	UTSW	11	100,917,511 (GRCm39)	missense	probably benign	0.01
R2895:Atp6v0a1	UTSW	11	100,935,424 (GRCm39)	missense	probably benign
R2926:Atp6v0a1	UTSW	11	100,934,774 (GRCm39)	missense	probably damaging	0.99
R3727:Atp6v0a1	UTSW	11	100,921,246 (GRCm39)	missense	probably benign	0.01
R3943:Atp6v0a1	UTSW	11	100,946,343 (GRCm39)	missense	probably benign	0.00
R4820:Atp6v0a1	UTSW	11	100,933,776 (GRCm39)	missense	probably benign	0.00
R5119:Atp6v0a1	UTSW	11	100,911,341 (GRCm39)	missense	probably benign	0.02
R5250:Atp6v0a1	UTSW	11	100,933,870 (GRCm39)	missense	possibly damaging	0.94
R5377:Atp6v0a1	UTSW	11	100,946,413 (GRCm39)	missense	probably damaging	1.00
R5393:Atp6v0a1	UTSW	11	100,929,633 (GRCm39)	missense	possibly damaging	0.95
R5497:Atp6v0a1	UTSW	11	100,920,011 (GRCm39)	missense	probably damaging	1.00
R5787:Atp6v0a1	UTSW	11	100,909,400 (GRCm39)	missense	probably benign	0.04
R6054:Atp6v0a1	UTSW	11	100,930,715 (GRCm39)	missense	possibly damaging	0.91
R6076:Atp6v0a1	UTSW	11	100,945,886 (GRCm39)	missense	probably damaging	1.00
R6889:Atp6v0a1	UTSW	11	100,920,009 (GRCm39)	missense	possibly damaging	0.87
R7035:Atp6v0a1	UTSW	11	100,918,183 (GRCm39)	missense	probably damaging	0.97
R7084:Atp6v0a1	UTSW	11	100,924,868 (GRCm39)	missense	probably damaging	1.00
R7212:Atp6v0a1	UTSW	11	100,934,783 (GRCm39)	missense	probably benign	0.08
R8289:Atp6v0a1	UTSW	11	100,924,931 (GRCm39)	missense	probably damaging	1.00
R8461:Atp6v0a1	UTSW	11	100,935,400 (GRCm39)	missense	possibly damaging	0.60
R8680:Atp6v0a1	UTSW	11	100,953,229 (GRCm39)	makesense	probably null
R8725:Atp6v0a1	UTSW	11	100,920,015 (GRCm39)	missense	possibly damaging	0.94
R8727:Atp6v0a1	UTSW	11	100,920,015 (GRCm39)	missense	possibly damaging	0.94
R8935:Atp6v0a1	UTSW	11	100,929,519 (GRCm39)	missense	possibly damaging	0.90
R9658:Atp6v0a1	UTSW	11	100,909,414 (GRCm39)	missense	probably benign	0.18
R9762:Atp6v0a1	UTSW	11	100,946,427 (GRCm39)	missense	possibly damaging	0.46
R9779:Atp6v0a1	UTSW	11	100,924,938 (GRCm39)	missense	probably damaging	1.00
X0023:Atp6v0a1	UTSW	11	100,935,423 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- TTGTCACAAGGGATGCTGCCAC -3'
(R):5'- AGGCTCAGATCCTTGCTATTTGCTG -3'

Sequencing Primer
(F):5'- AAGGGATGCTGCCACACTTC -3'
(R):5'- TTTGCTGAACCAATCATAAAGCC -3'

Posted On

2013-04-11