Mutagenetix > Incidental Mutations

Incidental Mutation 'R7035:Atp6v0a1'

546621

Institutional Source

Beutler Lab

Gene Symbol

Atp6v0a1

Ensembl Gene

ENSMUSG00000019302

Gene Name

ATPase, H+ transporting, lysosomal V0 subunit A1

Synonyms

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

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7035 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

101009452-101063719 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 101027357 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Histidine at position 199 (Q199H)

Ref Sequence

ENSEMBL: ENSMUSP00000131848 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000044721
AA Change: Q199H

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000044838
Gene: ENSMUSG00000019302
AA Change: Q199H

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000092663
AA Change: Q199H

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000090333
Gene: ENSMUSG00000019302
AA Change: Q199H

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

Predicted Effect

probably benign
Transcript: ENSMUST00000103110
AA Change: Q206H

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000099399
Gene: ENSMUSG00000019302
AA Change: Q206H

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000168757
AA Change: Q199H

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000131848
Gene: ENSMUSG00000019302
AA Change: Q199H

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (70/70)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110032F04Rik	T	A	3: 68,869,939	F78I	probably benign	Het
1700102P08Rik	A	T	9: 108,395,311	D140V	possibly damaging	Het
3632451O06Rik	T	A	14: 49,773,050	H400L	possibly damaging	Het
6430548M08Rik	A	T	8: 120,152,486	S208C	probably damaging	Het
Abcd4	G	T	12: 84,615,349	T41K	probably damaging	Het
Acaca	C	T	11: 84,238,943	R375C	probably damaging	Het
Acad11	T	A	9: 104,113,495	V433D	probably damaging	Het
Adal	T	A	2: 121,155,461	C226S	probably benign	Het
Aldh3b2	A	T	19: 3,978,142	M95L	probably benign	Het
Ano4	A	G	10: 88,954,711	F842S	probably damaging	Het
Ap5s1	T	C	2: 131,212,812	F181S	probably damaging	Het
Apba1	G	A	19: 23,917,567	D456N	possibly damaging	Het
Atp8a1	C	G	5: 67,781,030	G161A	probably benign	Het
Atxn2	C	T	5: 121,811,467	Q61*	probably null	Het
BC051142	C	T	17: 34,460,331		probably benign	Het
Cacna2d1	T	A	5: 16,246,672	I178K	probably damaging	Het
Catsperb	A	C	12: 101,415,334	T92P	probably damaging	Het
Ccdc175	A	G	12: 72,155,645	I292T	probably benign	Het
Cep290	T	A	10: 100,499,071	S318T	probably benign	Het
Cfb	T	A	17: 34,860,031	Y826F	possibly damaging	Het
Cntn1	C	A	15: 92,314,511	D851E	probably benign	Het
Coq6	A	G	12: 84,368,641	D146G	probably damaging	Het
Crem	G	A	18: 3,327,503	T12I	probably damaging	Het
Dennd4c	G	A	4: 86,812,337	V824I	probably damaging	Het
Dnase2b	C	T	3: 146,582,341	C333Y	probably damaging	Het
Dopey1	T	A	9: 86,524,302	F365I	possibly damaging	Het
Dysf	A	T	6: 84,186,392	I1570F	probably benign	Het
E330021D16Rik	G	A	6: 136,401,349	T161M	possibly damaging	Het
Eml1	T	A	12: 108,509,234	C275S	probably damaging	Het
Fam135b	A	C	15: 71,462,253	S1031A	possibly damaging	Het
Gga2	T	C	7: 121,989,716	D596G	probably damaging	Het
Gin1	A	C	1: 97,792,375	Y365S	possibly damaging	Het
Gipr	T	A	7: 19,162,884	I154F	probably damaging	Het
Gm5478	A	T	15: 101,645,197	I284N	possibly damaging	Het
Gnat1	A	T	9: 107,676,628		probably benign	Het
Gsdmc	A	T	15: 63,778,720		probably null	Het
Lama1	T	A	17: 67,781,049	I1554N		Het
Mycbp2	T	A	14: 103,174,981	T2519S	probably benign	Het
Mylk	G	A	16: 34,976,982	V1604M	possibly damaging	Het
Mypop	C	T	7: 18,991,997		probably benign	Het
Nol6	A	T	4: 41,118,479	V774E	probably benign	Het
Nol8	T	C	13: 49,661,202	V262A	probably benign	Het
Npepps	A	T	11: 97,223,139	V637D	probably damaging	Het
Olfr1	T	C	11: 73,395,718	I101M	probably benign	Het
Olfr1275	A	G	2: 111,231,439	M118T	probably damaging	Het
Olfr472	T	C	7: 107,902,933	V72A	probably benign	Het
Pcdhgb8	A	T	18: 37,763,148	I424F	possibly damaging	Het
Phf7	A	C	14: 31,239,226	W231G	probably damaging	Het
Plagl1	A	G	10: 13,128,233		probably benign	Het
Plat	A	T	8: 22,772,311	D117V	probably benign	Het
Prkag2	T	C	5: 24,947,566	Y180C	probably damaging	Het
Prpf8	T	C	11: 75,504,828	I1927T	possibly damaging	Het
Ptchd1	T	A	X: 155,574,712	Y499F	probably damaging	Het
Rad17	T	A	13: 100,627,625	D446V	possibly damaging	Het
Ralgapa2	G	T	2: 146,511,857	Q15K	probably damaging	Het
Ret	A	G	6: 118,163,286	Y982H	probably damaging	Het
Rnf145	T	A	11: 44,561,756	S521T	probably damaging	Het
Samd4	G	A	14: 47,089,163		silent	Het
Sardh	T	C	2: 27,230,842	D390G	probably damaging	Het
Saxo1	T	C	4: 86,445,122	T375A	probably damaging	Het
Scly	A	G	1: 91,308,403	T126A	probably damaging	Het
Slc6a16	T	A	7: 45,260,827	V307D	probably damaging	Het
Sned1	T	C	1: 93,262,130	C320R	probably damaging	Het
Sspo	G	A	6: 48,449,213		probably null	Het
Sycp2l	C	T	13: 41,157,497	T645I	unknown	Het
Tpmt	T	C	13: 47,040,108	K72E	probably damaging	Het
Vmn1r51	A	T	6: 90,129,225	H41L	probably benign	Het
Wdfy3	A	T	5: 101,855,549	I2900N	probably damaging	Het
Zfp663	A	G	2: 165,353,103	S399P	probably benign	Het
Zfp692	T	C	11: 58,309,442		probably null	Het

Other mutations in Atp6v0a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00687:Atp6v0a1	APN	11	101030505	critical splice donor site	probably null
IGL01024:Atp6v0a1	APN	11	101048439	missense	probably benign	0.00
IGL01390:Atp6v0a1	APN	11	101043802	missense	probably benign	0.01
IGL02214:Atp6v0a1	APN	11	101039840	missense	probably benign	0.01
IGL02639:Atp6v0a1	APN	11	101055518	missense	possibly damaging	0.90
R0125:Atp6v0a1	UTSW	11	101038851	splice site	probably null
R0193:Atp6v0a1	UTSW	11	101048482	missense	possibly damaging	0.90
R0265:Atp6v0a1	UTSW	11	101048515	missense	possibly damaging	0.80
R0973:Atp6v0a1	UTSW	11	101055491	nonsense	probably null
R0973:Atp6v0a1	UTSW	11	101055491	nonsense	probably null
R0974:Atp6v0a1	UTSW	11	101055491	nonsense	probably null
R1460:Atp6v0a1	UTSW	11	101033998	missense	probably damaging	1.00
R1580:Atp6v0a1	UTSW	11	101029204	missense	probably damaging	1.00
R1625:Atp6v0a1	UTSW	11	101055554	missense	probably damaging	1.00
R1644:Atp6v0a1	UTSW	11	101038786	missense	possibly damaging	0.65
R1779:Atp6v0a1	UTSW	11	101026685	missense	probably benign	0.01
R2895:Atp6v0a1	UTSW	11	101044598	missense	probably benign
R2926:Atp6v0a1	UTSW	11	101043948	missense	probably damaging	0.99
R3727:Atp6v0a1	UTSW	11	101030420	missense	probably benign	0.01
R3943:Atp6v0a1	UTSW	11	101055517	missense	probably benign	0.00
R4820:Atp6v0a1	UTSW	11	101042950	missense	probably benign	0.00
R5119:Atp6v0a1	UTSW	11	101020515	missense	probably benign	0.02
R5250:Atp6v0a1	UTSW	11	101043044	missense	possibly damaging	0.94
R5377:Atp6v0a1	UTSW	11	101055587	missense	probably damaging	1.00
R5393:Atp6v0a1	UTSW	11	101038807	missense	possibly damaging	0.95
R5497:Atp6v0a1	UTSW	11	101029185	missense	probably damaging	1.00
R5787:Atp6v0a1	UTSW	11	101018574	missense	probably benign	0.04
R6054:Atp6v0a1	UTSW	11	101039889	missense	possibly damaging	0.91
R6076:Atp6v0a1	UTSW	11	101055060	missense	probably damaging	1.00
R6889:Atp6v0a1	UTSW	11	101029183	missense	possibly damaging	0.87
R7084:Atp6v0a1	UTSW	11	101034042	missense	probably damaging	1.00
R7212:Atp6v0a1	UTSW	11	101043957	missense	probably benign	0.08
X0023:Atp6v0a1	UTSW	11	101044597	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- CTGTGCAGTGTACAATCTTTCC -3'
(R):5'- ATGCTGTGTCTACATATGTGCG -3'

Sequencing Primer
(F):5'- GTGCAGTGTACAATCTTTCCTCTTTC -3'
(R):5'- TCTACATATGTGCGGACATGG -3'

Posted On

2019-05-13