Mutagenetix > Incidental Mutation

Incidental Mutation 'R1460:Atp6v0a1'

162087

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

039515-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1460 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

100900278-100954545 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 100924824 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 303 (I303N)

Ref Sequence

ENSEMBL: ENSMUSP00000131848 (fasta)

Gene Model

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

AlphaFold

Q9Z1G4

Predicted Effect

probably damaging
Transcript: ENSMUST00000044721
AA Change: I303N

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

SMART Domains

Protein: ENSMUSP00000044838
Gene: ENSMUSG00000019302
AA Change: I303N

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000092663
AA Change: I303N

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

SMART Domains

Protein: ENSMUSP00000090333
Gene: ENSMUSG00000019302
AA Change: I303N

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000103110
AA Change: I310N

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

SMART Domains

Protein: ENSMUSP00000099399
Gene: ENSMUSG00000019302
AA Change: I310N

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154896

Predicted Effect

probably damaging
Transcript: ENSMUST00000168757
AA Change: I303N

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

SMART Domains

Protein: ENSMUSP00000131848
Gene: ENSMUSG00000019302
AA Change: I303N

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185166

Meta Mutation Damage Score

0.9150

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.2%
20x: 89.1%

Validation Efficiency

94% (93/99)

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: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522H14Rik	A	T	4: 109,388,407 (GRCm39)		probably null	Het
Abcb11	A	G	2: 69,087,718 (GRCm39)		probably benign	Het
Abi3bp	T	C	16: 56,382,780 (GRCm39)	V130A	probably damaging	Het
Adamts4	A	G	1: 171,084,009 (GRCm39)		probably benign	Het
Adgrd1	A	G	5: 129,199,627 (GRCm39)	T155A	possibly damaging	Het
Ano3	A	T	2: 110,513,103 (GRCm39)	S631T	probably damaging	Het
Ass1	G	A	2: 31,404,753 (GRCm39)	V345I	probably benign	Het
Atg7	G	A	6: 114,680,325 (GRCm39)	A384T	probably damaging	Het
B3gntl1	T	G	11: 121,530,624 (GRCm39)	Y149S	probably damaging	Het
Btnl2	A	G	17: 34,585,424 (GRCm39)	D475G	probably benign	Het
Cdcp1	A	T	9: 123,009,092 (GRCm39)	S529T	possibly damaging	Het
Cenpt	A	G	8: 106,575,520 (GRCm39)	L194P	probably damaging	Het
Cfhr4	T	A	1: 139,625,934 (GRCm39)	I788F	probably damaging	Het
Chmp4b	A	G	2: 154,534,515 (GRCm39)	D177G	possibly damaging	Het
Chmp7	C	T	14: 69,956,899 (GRCm39)	M336I	probably benign	Het
Cish	G	T	9: 107,177,596 (GRCm39)	E91*	probably null	Het
Col22a1	T	C	15: 71,693,780 (GRCm39)	D740G	unknown	Het
Cplane2	T	C	4: 140,945,523 (GRCm39)	F125L	probably damaging	Het
Crocc	G	A	4: 140,756,551 (GRCm39)	Q1025*	probably null	Het
Ctrc	C	A	4: 141,566,120 (GRCm39)		probably benign	Het
Cyb5r2	T	A	7: 107,356,450 (GRCm39)	D7V	probably benign	Het
Dhx29	T	C	13: 113,101,744 (GRCm39)		probably benign	Het
Dhx9	A	C	1: 153,341,426 (GRCm39)	D607E	probably benign	Het
Dnajb7	C	T	15: 81,291,888 (GRCm39)	G150R	probably benign	Het
Dnase1l3	T	A	14: 7,974,050 (GRCm38)	T214S	probably benign	Het
Dpm1	A	T	2: 168,052,549 (GRCm39)	I229N	probably damaging	Het
Dstn	T	C	2: 143,780,408 (GRCm39)	V36A	possibly damaging	Het
Entpd1	T	C	19: 40,714,632 (GRCm39)	V247A	probably damaging	Het
Ephb3	C	A	16: 21,037,672 (GRCm39)	H277Q	probably benign	Het
Etl4	A	T	2: 20,793,288 (GRCm39)	N671I	probably damaging	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fancd2os	G	A	6: 113,574,973 (GRCm39)	T11I	probably damaging	Het
Fcrlb	G	T	1: 170,739,853 (GRCm39)		probably benign	Het
Fhip1a	T	C	3: 85,638,183 (GRCm39)	I39V	probably damaging	Het
Gm9991	T	C	1: 90,606,780 (GRCm39)		noncoding transcript	Het
Gstk1	C	T	6: 42,223,529 (GRCm39)	R40W	probably damaging	Het
Gstt1	C	T	10: 75,620,004 (GRCm39)	V190M	probably damaging	Het
Hectd2	G	A	19: 36,592,908 (GRCm39)	W691*	probably null	Het
Hecw2	T	C	1: 53,852,404 (GRCm39)	T1572A	probably damaging	Het
Hoxa5	T	C	6: 52,180,928 (GRCm39)	T135A	probably benign	Het
Igfl3	T	A	7: 17,913,880 (GRCm39)	C77S	possibly damaging	Het
Itgb4	A	G	11: 115,874,990 (GRCm39)	D449G	probably damaging	Het
Larp1b	T	C	3: 40,916,653 (GRCm39)	V11A	probably benign	Het
Lhx9	A	G	1: 138,766,447 (GRCm39)		probably benign	Het
Lig3	G	T	11: 82,686,624 (GRCm39)		probably benign	Het
Lipo4	A	C	19: 33,476,718 (GRCm39)	F343L	probably benign	Het
Lyn	T	A	4: 3,789,908 (GRCm39)	Y480*	probably null	Het
Mib2	C	T	4: 155,743,917 (GRCm39)	G42S	probably damaging	Het
Mill1	C	A	7: 17,996,595 (GRCm39)	A137D	probably damaging	Het
Mmut	T	C	17: 41,248,266 (GRCm39)	Y98H	probably damaging	Het
Morc2a	A	T	11: 3,633,794 (GRCm39)	R635S	probably benign	Het
Mpped2	A	G	2: 106,575,237 (GRCm39)		probably benign	Het
Mug2	T	C	6: 122,017,492 (GRCm39)		probably benign	Het
Mynn	C	A	3: 30,657,853 (GRCm39)	S57Y	probably damaging	Het
Myo3b	G	A	2: 70,062,798 (GRCm39)	E333K	probably benign	Het
Myt1	A	T	2: 181,444,725 (GRCm39)	I514F	probably damaging	Het
Nlrp4f	A	G	13: 65,338,082 (GRCm39)	C708R	probably benign	Het
Nod2	A	G	8: 89,390,440 (GRCm39)	E249G	probably damaging	Het
Npy2r	T	C	3: 82,448,251 (GRCm39)	I175V	probably benign	Het
Obscn	A	T	11: 58,946,792 (GRCm39)	V4114D	probably damaging	Het
Or1l8	A	T	2: 36,817,820 (GRCm39)	M102K	probably damaging	Het
Or2y12	T	A	11: 49,426,504 (GRCm39)	M164K	possibly damaging	Het
Or4a76	A	G	2: 89,460,282 (GRCm39)		probably null	Het
Or52e7	T	A	7: 104,684,915 (GRCm39)	I170N	possibly damaging	Het
Or8g33	A	G	9: 39,337,503 (GRCm39)	M288T	probably benign	Het
Pbxip1	T	A	3: 89,352,921 (GRCm39)	I196N	probably damaging	Het
Piezo1	G	A	8: 123,228,890 (GRCm39)	T209M	possibly damaging	Het
Polr1a	T	C	6: 71,918,368 (GRCm39)	M642T	probably damaging	Het
Prdm4	T	C	10: 85,743,686 (GRCm39)	M190V	probably benign	Het
Psmd7	G	A	8: 108,307,691 (GRCm39)	S264L	possibly damaging	Het
Qrich1	T	G	9: 108,410,846 (GRCm39)		probably benign	Het
Rapgef4	G	T	2: 71,861,520 (GRCm39)		probably null	Het
Rfx5	T	C	3: 94,863,636 (GRCm39)	I95T	probably damaging	Het
Rgr	G	A	14: 36,767,683 (GRCm39)	R113C	probably damaging	Het
Rnf20	T	C	4: 49,645,873 (GRCm39)		probably benign	Het
Rps3a1	G	A	3: 86,045,369 (GRCm39)	A241V	probably benign	Het
Rttn	A	T	18: 89,127,481 (GRCm39)		probably benign	Het
Scn2a	A	G	2: 65,532,187 (GRCm39)	T600A	probably damaging	Het
Scyl2	T	C	10: 89,493,751 (GRCm39)	D339G	possibly damaging	Het
Sipa1	T	A	19: 5,701,475 (GRCm39)	H1029L	probably benign	Het
Slc49a4	T	C	16: 35,539,736 (GRCm39)	T362A	probably benign	Het
Snrnp48	A	G	13: 38,395,081 (GRCm39)	T124A	probably benign	Het
Sptbn1	A	T	11: 30,088,637 (GRCm39)	M875K	possibly damaging	Het
Supt6	A	G	11: 78,113,024 (GRCm39)	V973A	possibly damaging	Het
Supv3l1	T	C	10: 62,279,162 (GRCm39)		probably benign	Het
Svep1	G	T	4: 58,068,740 (GRCm39)	N3015K	possibly damaging	Het
Tgfb3	A	G	12: 86,105,841 (GRCm39)		probably benign	Het
Trerf1	A	G	17: 47,628,771 (GRCm39)		noncoding transcript	Het
Trim24	T	A	6: 37,941,761 (GRCm39)	F904I	probably damaging	Het
Trim30d	T	A	7: 104,121,311 (GRCm39)	Y328F	probably benign	Het
Ttn	T	C	2: 76,698,717 (GRCm39)	E6G	probably damaging	Het
Ube2m	T	C	7: 12,769,762 (GRCm39)		probably benign	Het
Vmn2r-ps158	A	T	7: 42,672,639 (GRCm39)	R91S	probably benign	Het
Wdr90	A	T	17: 26,079,422 (GRCm39)	S237R	possibly damaging	Het
Zfp735	A	T	11: 73,603,159 (GRCm39)	H701L	possibly damaging	Het
Zp1	T	C	19: 10,896,242 (GRCm39)	D161G	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
R0125:Atp6v0a1	UTSW	11	100,929,677 (GRCm39)	splice site	probably null
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
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'- GGAAGACTTGTGTTGGAAGATCCCC -3'
(R):5'- GCAGTTTCCGCTCTGGAAAAGACC -3'

Sequencing Primer
(F):5'- GTTGGAAGATCCCCTCCCC -3'
(R):5'- TCCTGCATACTCTCAGGGTAGAAG -3'

Posted On

2014-03-14