Mutagenetix > Incidental Mutations

Incidental Mutation 'R7313:Atp6v1a'

567793

Institutional Source

Beutler Lab

Gene Symbol

Atp6v1a

Ensembl Gene

ENSMUSG00000052459

Gene Name

ATPase, H+ transporting, lysosomal V1 subunit A

Synonyms

Atp6a1, VA68, VPP2, lysosomal 70kDa

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.969) question?

Stock #

R7313 (G1)

Quality Score

222.009

Status

Not validated

Chromosome

Chromosomal Location

44085402-44139705 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 44114617 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 70 (T70A)

Ref Sequence

ENSEMBL: ENSMUSP00000066886 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063661] [ENSMUST00000114666] [ENSMUST00000124102] [ENSMUST00000137557] [ENSMUST00000147025]

Predicted Effect

probably benign
Transcript: ENSMUST00000063661
AA Change: T70A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000066886
Gene: ENSMUSG00000052459
AA Change: T70A

Domain	Start	End	E-Value	Type
Pfam:ATP-synt_ab_N	21	83	8.5e-16	PFAM
low complexity region	206	217	N/A	INTRINSIC
Pfam:ATP-synt_ab	229	455	4.4e-113	PFAM
Pfam:ATP-synt_ab_C	473	617	2.4e-29	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000114666
AA Change: T70A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000110314
Gene: ENSMUSG00000052459
AA Change: T70A

Domain	Start	End	E-Value	Type
Pfam:ATP-synt_ab_N	21	83	2.4e-16	PFAM
Pfam:ATP-synt_ab_Xtn	99	221	3.3e-46	PFAM
Pfam:ATP-synt_ab	230	455	3.3e-110	PFAM
Pfam:ATP-synt_ab_C	473	617	2.4e-29	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000124102
AA Change: T70A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000118429
Gene: ENSMUSG00000052459
AA Change: T70A

Domain	Start	End	E-Value	Type
Pfam:ATP-synt_ab_N	21	83	1.4e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000137557
AA Change: T70A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000116923
Gene: ENSMUSG00000052459
AA Change: T70A

Domain	Start	End	E-Value	Type
Pfam:ATP-synt_ab_N	21	83	2e-17	PFAM
low complexity region	206	217	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000147025
AA Change: T70A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000118726
Gene: ENSMUSG00000052459
AA Change: T70A

Domain	Start	End	E-Value	Type
Pfam:ATP-synt_ab_N	21	77	3.6e-15	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.8%

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 encoded protein is one of two V1 domain A subunit isoforms and is found in all tissues. Transcript variants derived from alternative polyadenylation exist. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 110 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	A	G	5: 8,723,187	N805S	probably damaging	Het
Acat2	A	G	17: 12,960,006	V60A	probably benign	Het
Adam6b	A	G	12: 113,491,134	I524V	probably benign	Het
Adamts16	C	T	13: 70,772,955	W590*	probably null	Het
Adamts9	C	T	6: 92,858,121	G1257D	probably damaging	Het
Adgrf5	C	T	17: 43,445,083	T644I	probably benign	Het
Adgrf5	T	G	17: 43,452,477		probably null	Het
Adgrv1	T	C	13: 81,520,515	T2641A	possibly damaging	Het
Agap3	T	C	5: 24,452,384	F60L	probably benign	Het
Akap9	C	A	5: 4,004,933	T1626K	probably damaging	Het
Ampd3	C	A	7: 110,806,054	D603E	probably damaging	Het
Angpt4	T	A	2: 151,925,406	V119E	probably benign	Het
B4galt3	T	A	1: 171,272,749	I163N	probably damaging	Het
Borcs5	C	T	6: 134,710,180	T167M	probably damaging	Het
Btbd19	T	A	4: 117,121,419	S156C	probably damaging	Het
Camkk2	C	T	5: 122,737,511	R492Q	possibly damaging	Het
Casr	T	C	16: 36,509,671	I434V	probably damaging	Het
Cd4	G	T	6: 124,867,103	T394K	probably benign	Het
Cps1	T	C	1: 67,198,358	L1006P	probably damaging	Het
Crx	G	A	7: 15,867,932	P274S	probably damaging	Het
Crybg1	T	A	10: 43,989,111	I1457F	probably damaging	Het
Cul4a	C	A	8: 13,121,676		probably benign	Het
D430041D05Rik	T	A	2: 104,255,565	T196S	probably benign	Het
Dnah3	T	C	7: 119,981,344	E1995G	probably benign	Het
Dnm1	T	A	2: 32,336,009	T353S	probably damaging	Het
E430018J23Rik	C	T	7: 127,391,684	S377N	probably benign	Het
Ect2l	T	A	10: 18,168,401	T329S	probably damaging	Het
Elp2	T	A	18: 24,609,659	S83T	probably benign	Het
Exosc7	A	G	9: 123,118,948	T39A	probably benign	Het
Fam135a	C	A	1: 24,057,392	V91F	probably damaging	Het
Gab2	G	T	7: 97,081,798		probably benign	Het
Gbf1	A	T	19: 46,280,354	I1408F	possibly damaging	Het
Glis3	C	T	19: 28,531,019	E522K	probably damaging	Het
Gm10375	A	T	14: 43,604,857	C139S	possibly damaging	Het
Gm26558	T	C	2: 70,661,867	E81G	unknown	Het
Gm35315	C	T	5: 110,079,225	C116Y	probably benign	Het
Gm3676	T	A	14: 41,644,107	I84F	probably damaging	Het
Gm7145	T	A	1: 117,986,202	H271Q	probably damaging	Het
Gpat2	T	A	2: 127,428,295	I76N	probably damaging	Het
Hipk1	A	T	3: 103,778,258	S14T	unknown	Het
Hlcs	C	A	16: 94,267,503	S286I	probably damaging	Het
Ighg1	A	T	12: 113,329,458	F204Y		Het
Igsf10	T	C	3: 59,329,416	I1115V	probably benign	Het
Klk7	A	T	7: 43,812,875	H97L	probably damaging	Het
Kmt2d	A	T	15: 98,856,623	D1605E	unknown	Het
Leng8	T	A	7: 4,139,526	I49N	possibly damaging	Het
Lingo4	A	T	3: 94,403,144	D463V	possibly damaging	Het
Lrp1	T	A	10: 127,553,468	N3193I	probably damaging	Het
Lrrc7	T	A	3: 158,160,474	Y1210F	probably damaging	Het
Mki67	G	C	7: 135,694,671	A2878G	probably benign	Het
Mmp1a	TG	TGG	9: 7,465,083		probably null	Het
Mucl2	C	T	15: 103,899,179		probably null	Het
Myh6	A	T	14: 54,960,270	D470E	probably benign	Het
Myo1e	T	C	9: 70,359,385		probably null	Het
Myo7a	G	A	7: 98,064,195	R1647W	probably damaging	Het
Nbeal1	G	C	1: 60,237,151	V684L	probably benign	Het
Nmral1	C	T	16: 4,713,796	M198I	probably benign	Het
Nrap	C	A	19: 56,342,268	L1120F	probably damaging	Het
Nup155	T	A	15: 8,154,922	I1267N	probably damaging	Het
Obscn	G	A	11: 59,007,588	P6616S	unknown	Het
Ocstamp	T	G	2: 165,397,309	D319A	probably damaging	Het
Olfr384	A	T	11: 73,602,984	I135F	probably damaging	Het
Olfr600	A	G	7: 103,346,331	V199A	probably benign	Het
Olfr787	T	C	10: 129,462,987	S104P	probably damaging	Het
Olfr796	A	G	10: 129,608,080	S134P	probably benign	Het
Olfr855	A	G	9: 19,584,642	Y35C	probably damaging	Het
Ooep	T	C	9: 78,378,151	D61G	probably damaging	Het
Otoa	A	G	7: 121,102,542	E148G	probably benign	Het
Ovgp1	A	T	3: 105,987,071	D720V	unknown	Het
Padi2	T	A	4: 140,932,768	F294I	probably damaging	Het
Pcdha7	T	A	18: 36,974,418	N165K	probably damaging	Het
Pcdhb6	C	A	18: 37,335,208	P394H	probably damaging	Het
Pcdhga6	T	C	18: 37,708,019	V264A	possibly damaging	Het
Pik3ap1	G	T	19: 41,296,376	D623E	possibly damaging	Het
Prdm10	A	T	9: 31,357,160	K802*	probably null	Het
Ptgfrn	G	A	3: 101,073,047	L326F	possibly damaging	Het
Rgsl1	T	G	1: 153,807,876		probably null	Het
Rock1	T	G	18: 10,129,317	T347P	possibly damaging	Het
Rprd2	G	A	3: 95,776,710	P338S	probably damaging	Het
Sdk1	A	T	5: 141,937,622	N333Y	probably damaging	Het
Setd4	T	A	16: 93,591,244	H118L	probably benign	Het
Sirt3	G	A	7: 140,878,126	P37S		Het
Slc16a9	G	T	10: 70,283,170	G440W	probably damaging	Het
Slc22a23	T	A	13: 34,183,178	I616F	probably damaging	Het
Slc30a8	A	C	15: 52,317,311	D102A	probably damaging	Het
Slc6a4	T	A	11: 77,010,701	D87E	possibly damaging	Het
Slc9a4	A	C	1: 40,629,503	T769P	probably benign	Het
Soga3	T	A	10: 29,196,879	Y722*	probably null	Het
Sspo	A	T	6: 48,454,828	Y685F	probably damaging	Het
Sspo	C	A	6: 48,473,456	Q2560K	probably benign	Het
Stpg1	T	A	4: 135,529,516	L206Q	probably damaging	Het
Stt3b	A	T	9: 115,266,115	Y283N	probably damaging	Het
Sult4a1	T	C	15: 84,086,613	E197G	probably damaging	Het
Syne1	T	G	10: 5,047,635	D444A	probably damaging	Het
Tex15	T	A	8: 33,574,817	V1425E	possibly damaging	Het
Tgm4	A	G	9: 123,062,491	D557G	probably benign	Het
Tmcc3	A	G	10: 94,430,572		probably benign	Het
Tnfrsf8	T	A	4: 145,274,382	N385Y	probably benign	Het
Ttc4	T	C	4: 106,678,820	D15G	possibly damaging	Het
Tut1	A	G	19: 8,964,049	N400S	probably benign	Het
Usp39	T	C	6: 72,336,430	K259R	probably benign	Het
Vmn1r215	C	T	13: 23,076,314	H175Y	probably benign	Het
Vmn1r36	A	T	6: 66,716,123	M256K	probably benign	Het
Zfp128	T	A	7: 12,890,534	H276Q	possibly damaging	Het
Zfp276	T	C	8: 123,267,823	M543T	probably damaging	Het
Zfp354c	A	T	11: 50,814,656	Y531N	probably damaging	Het
Zfp532	T	A	18: 65,623,005	M3K	probably damaging	Het
Zfp64	T	G	2: 168,899,890	K373Q	probably damaging	Het
Zfp983	T	G	17: 21,661,497	S114A	probably damaging	Het
Zranb1	G	A	7: 132,982,752	R583K	probably damaging	Het

Other mutations in Atp6v1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00500:Atp6v1a	APN	16	44111583	missense	probably benign	0.00
IGL01860:Atp6v1a	APN	16	44099956	missense	probably damaging	1.00
IGL02691:Atp6v1a	APN	16	44111619	missense	probably damaging	1.00
IGL03256:Atp6v1a	APN	16	44111088	unclassified	probably benign
IGL03307:Atp6v1a	APN	16	44111559	missense	possibly damaging	0.74
R0605:Atp6v1a	UTSW	16	44111496	critical splice donor site	probably null
R0696:Atp6v1a	UTSW	16	44087471	missense	probably benign
R0883:Atp6v1a	UTSW	16	44101692	splice site	probably benign
R1777:Atp6v1a	UTSW	16	44114705	nonsense	probably null
R2370:Atp6v1a	UTSW	16	44107040	missense	probably benign	0.10
R2932:Atp6v1a	UTSW	16	44089043	missense	probably benign	0.03
R3725:Atp6v1a	UTSW	16	44101757	splice site	probably benign
R4224:Atp6v1a	UTSW	16	44101811	missense	probably damaging	1.00
R5780:Atp6v1a	UTSW	16	44114643	missense	probably benign	0.01
R5945:Atp6v1a	UTSW	16	44099946	missense	probably damaging	0.99
R6032:Atp6v1a	UTSW	16	44106940	missense	probably damaging	1.00
R6032:Atp6v1a	UTSW	16	44106940	missense	probably damaging	1.00
R6036:Atp6v1a	UTSW	16	44098831	missense	probably benign	0.02
R6036:Atp6v1a	UTSW	16	44098831	missense	probably benign	0.02
R6387:Atp6v1a	UTSW	16	44087443	missense	possibly damaging	0.76
R6479:Atp6v1a	UTSW	16	44098758	missense	probably benign	0.00
R6756:Atp6v1a	UTSW	16	44089058	missense	probably benign	0.18

Predicted Primers

PCR Primer
(F):5'- CCGTGAAGTCTATGACACTGAATG -3'
(R):5'- AAGGCATGCTAATGGGTGTG -3'

Sequencing Primer
(F):5'- GTCTATGACACTGAATGTTAAGAGC -3'
(R):5'- ATGGGTGTGTTAGATTTGAAATTAGC -3'

Posted On

2019-06-26