Mutagenetix > Incidental Mutation

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, lysosomal 70kDa, VA68, VPP2

MMRRC Submission

045411-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.968) question?

Stock #

R7313 (G1)

Quality Score

222.009

Status

Not validated

Chromosome

Chromosomal Location

43905765-43960055 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 43934980 bp (GRCm39)

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]

AlphaFold

P50516

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: 8,773,187 (GRCm39)	N805S	probably damaging	Het
Acat2	A	G	17: 13,178,893 (GRCm39)	V60A	probably benign	Het
Adam6b	A	G	12: 113,454,754 (GRCm39)	I524V	probably benign	Het
Adamts16	C	T	13: 70,921,074 (GRCm39)	W590*	probably null	Het
Adamts9	C	T	6: 92,835,102 (GRCm39)	G1257D	probably damaging	Het
Adgrf5	C	T	17: 43,755,974 (GRCm39)	T644I	probably benign	Het
Adgrf5	T	G	17: 43,763,368 (GRCm39)		probably null	Het
Adgrv1	T	C	13: 81,668,634 (GRCm39)	T2641A	possibly damaging	Het
Agap3	T	C	5: 24,657,382 (GRCm39)	F60L	probably benign	Het
Akap9	C	A	5: 4,054,933 (GRCm39)	T1626K	probably damaging	Het
Ampd3	C	A	7: 110,405,261 (GRCm39)	D603E	probably damaging	Het
Angpt4	T	A	2: 151,767,326 (GRCm39)	V119E	probably benign	Het
B4galt3	T	A	1: 171,100,319 (GRCm39)	I163N	probably damaging	Het
Borcs5	C	T	6: 134,687,143 (GRCm39)	T167M	probably damaging	Het
Btbd19	T	A	4: 116,978,616 (GRCm39)	S156C	probably damaging	Het
Camkk2	C	T	5: 122,875,574 (GRCm39)	R492Q	possibly damaging	Het
Casr	T	C	16: 36,330,033 (GRCm39)	I434V	probably damaging	Het
Cd4	G	T	6: 124,844,066 (GRCm39)	T394K	probably benign	Het
Cps1	T	C	1: 67,237,517 (GRCm39)	L1006P	probably damaging	Het
Crx	G	A	7: 15,601,857 (GRCm39)	P274S	probably damaging	Het
Crybg1	T	A	10: 43,865,107 (GRCm39)	I1457F	probably damaging	Het
Cul4a	C	A	8: 13,171,676 (GRCm39)		probably benign	Het
D430041D05Rik	T	A	2: 104,085,910 (GRCm39)	T196S	probably benign	Het
Dnah3	T	C	7: 119,580,567 (GRCm39)	E1995G	probably benign	Het
Dnm1	T	A	2: 32,226,021 (GRCm39)	T353S	probably damaging	Het
Ect2l	T	A	10: 18,044,149 (GRCm39)	T329S	probably damaging	Het
Elp2	T	A	18: 24,742,716 (GRCm39)	S83T	probably benign	Het
Exosc7	A	G	9: 122,948,013 (GRCm39)	T39A	probably benign	Het
Fam135a	C	A	1: 24,096,473 (GRCm39)	V91F	probably damaging	Het
Gab2	G	T	7: 96,731,005 (GRCm39)		probably benign	Het
Gbf1	A	T	19: 46,268,793 (GRCm39)	I1408F	possibly damaging	Het
Glis3	C	T	19: 28,508,419 (GRCm39)	E522K	probably damaging	Het
Gm10375	A	T	14: 43,842,314 (GRCm39)	C139S	possibly damaging	Het
Gm26558	T	C	2: 70,492,211 (GRCm39)	E81G	unknown	Het
Gm35315	C	T	5: 110,227,091 (GRCm39)	C116Y	probably benign	Het
Gm3676	T	A	14: 41,366,064 (GRCm39)	I84F	probably damaging	Het
Gm7145	T	A	1: 117,913,932 (GRCm39)	H271Q	probably damaging	Het
Gpat2	T	A	2: 127,270,215 (GRCm39)	I76N	probably damaging	Het
Hipk1	A	T	3: 103,685,574 (GRCm39)	S14T	unknown	Het
Hlcs	C	A	16: 94,068,362 (GRCm39)	S286I	probably damaging	Het
Ighg1	A	T	12: 113,293,078 (GRCm39)	F204Y		Het
Igsf10	T	C	3: 59,236,837 (GRCm39)	I1115V	probably benign	Het
Klk7	A	T	7: 43,462,299 (GRCm39)	H97L	probably damaging	Het
Kmt2d	A	T	15: 98,754,504 (GRCm39)	D1605E	unknown	Het
Leng8	T	A	7: 4,142,525 (GRCm39)	I49N	possibly damaging	Het
Lingo4	A	T	3: 94,310,451 (GRCm39)	D463V	possibly damaging	Het
Lrp1	T	A	10: 127,389,337 (GRCm39)	N3193I	probably damaging	Het
Lrrc7	T	A	3: 157,866,111 (GRCm39)	Y1210F	probably damaging	Het
Mki67	G	C	7: 135,296,400 (GRCm39)	A2878G	probably benign	Het
Mmp1a	TG	TGG	9: 7,465,083 (GRCm38)		probably null	Het
Mtcl3	T	A	10: 29,072,875 (GRCm39)	Y722*	probably null	Het
Mucl2	C	T	15: 103,929,445 (GRCm39)		probably null	Het
Myh6	A	T	14: 55,197,727 (GRCm39)	D470E	probably benign	Het
Myo1e	T	C	9: 70,266,667 (GRCm39)		probably null	Het
Myo7a	G	A	7: 97,713,402 (GRCm39)	R1647W	probably damaging	Het
Nbeal1	G	C	1: 60,276,310 (GRCm39)	V684L	probably benign	Het
Nmral1	C	T	16: 4,531,660 (GRCm39)	M198I	probably benign	Het
Nrap	C	A	19: 56,330,700 (GRCm39)	L1120F	probably damaging	Het
Nup155	T	A	15: 8,184,406 (GRCm39)	I1267N	probably damaging	Het
Obscn	G	A	11: 58,898,414 (GRCm39)	P6616S	unknown	Het
Ocstamp	T	G	2: 165,239,229 (GRCm39)	D319A	probably damaging	Het
Ooep	T	C	9: 78,285,433 (GRCm39)	D61G	probably damaging	Het
Or10p1	A	G	10: 129,443,949 (GRCm39)	S134P	probably benign	Het
Or1e25	A	T	11: 73,493,810 (GRCm39)	I135F	probably damaging	Het
Or52ad1	A	G	7: 102,995,538 (GRCm39)	V199A	probably benign	Het
Or6c5c	T	C	10: 129,298,856 (GRCm39)	S104P	probably damaging	Het
Or7g35	A	G	9: 19,495,938 (GRCm39)	Y35C	probably damaging	Het
Otoa	A	G	7: 120,701,765 (GRCm39)	E148G	probably benign	Het
Ovgp1	A	T	3: 105,894,387 (GRCm39)	D720V	unknown	Het
Padi2	T	A	4: 140,660,079 (GRCm39)	F294I	probably damaging	Het
Pcdha7	T	A	18: 37,107,471 (GRCm39)	N165K	probably damaging	Het
Pcdhb6	C	A	18: 37,468,261 (GRCm39)	P394H	probably damaging	Het
Pcdhga6	T	C	18: 37,841,072 (GRCm39)	V264A	possibly damaging	Het
Pik3ap1	G	T	19: 41,284,815 (GRCm39)	D623E	possibly damaging	Het
Prdm10	A	T	9: 31,268,456 (GRCm39)	K802*	probably null	Het
Ptgfrn	G	A	3: 100,980,363 (GRCm39)	L326F	possibly damaging	Het
Rgsl1	T	G	1: 153,683,622 (GRCm39)		probably null	Het
Rock1	T	G	18: 10,129,317 (GRCm39)	T347P	possibly damaging	Het
Rprd2	G	A	3: 95,684,022 (GRCm39)	P338S	probably damaging	Het
Sdk1	A	T	5: 141,923,377 (GRCm39)	N333Y	probably damaging	Het
Setd4	T	A	16: 93,388,132 (GRCm39)	H118L	probably benign	Het
Sirt3	G	A	7: 140,458,039 (GRCm39)	P37S		Het
Slc16a9	G	T	10: 70,119,000 (GRCm39)	G440W	probably damaging	Het
Slc22a23	T	A	13: 34,367,161 (GRCm39)	I616F	probably damaging	Het
Slc30a8	A	C	15: 52,180,707 (GRCm39)	D102A	probably damaging	Het
Slc6a4	T	A	11: 76,901,527 (GRCm39)	D87E	possibly damaging	Het
Slc9a4	A	C	1: 40,668,663 (GRCm39)	T769P	probably benign	Het
Sspo	A	T	6: 48,431,762 (GRCm39)	Y685F	probably damaging	Het
Sspo	C	A	6: 48,450,390 (GRCm39)	Q2560K	probably benign	Het
Stpg1	T	A	4: 135,256,827 (GRCm39)	L206Q	probably damaging	Het
Stt3b	A	T	9: 115,095,183 (GRCm39)	Y283N	probably damaging	Het
Sult4a1	T	C	15: 83,970,814 (GRCm39)	E197G	probably damaging	Het
Syne1	T	G	10: 4,997,635 (GRCm39)	D444A	probably damaging	Het
Tex15	T	A	8: 34,064,845 (GRCm39)	V1425E	possibly damaging	Het
Tgm4	A	G	9: 122,891,556 (GRCm39)	D557G	probably benign	Het
Tmcc3	A	G	10: 94,266,434 (GRCm39)		probably benign	Het
Tnfrsf8	T	A	4: 145,000,952 (GRCm39)	N385Y	probably benign	Het
Ttc4	T	C	4: 106,536,017 (GRCm39)	D15G	possibly damaging	Het
Tut1	A	G	19: 8,941,413 (GRCm39)	N400S	probably benign	Het
Usp39	T	C	6: 72,313,413 (GRCm39)	K259R	probably benign	Het
Vmn1r215	C	T	13: 23,260,484 (GRCm39)	H175Y	probably benign	Het
Vmn1r36	A	T	6: 66,693,107 (GRCm39)	M256K	probably benign	Het
Zfp128	T	A	7: 12,624,461 (GRCm39)	H276Q	possibly damaging	Het
Zfp276	T	C	8: 123,994,562 (GRCm39)	M543T	probably damaging	Het
Zfp354c	A	T	11: 50,705,483 (GRCm39)	Y531N	probably damaging	Het
Zfp532	T	A	18: 65,756,076 (GRCm39)	M3K	probably damaging	Het
Zfp64	T	G	2: 168,741,810 (GRCm39)	K373Q	probably damaging	Het
Zfp764l1	C	T	7: 126,990,856 (GRCm39)	S377N	probably benign	Het
Zfp983	T	G	17: 21,880,413 (GRCm39)	S114A	probably damaging	Het
Zranb1	G	A	7: 132,584,481 (GRCm39)	R583K	probably damaging	Het

Other mutations in Atp6v1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00500:Atp6v1a	APN	16	43,931,946 (GRCm39)	missense	probably benign	0.00
IGL01860:Atp6v1a	APN	16	43,920,319 (GRCm39)	missense	probably damaging	1.00
IGL02691:Atp6v1a	APN	16	43,931,982 (GRCm39)	missense	probably damaging	1.00
IGL03256:Atp6v1a	APN	16	43,931,451 (GRCm39)	unclassified	probably benign
IGL03307:Atp6v1a	APN	16	43,931,922 (GRCm39)	missense	possibly damaging	0.74
R0605:Atp6v1a	UTSW	16	43,931,859 (GRCm39)	critical splice donor site	probably null
R0696:Atp6v1a	UTSW	16	43,907,834 (GRCm39)	missense	probably benign
R0883:Atp6v1a	UTSW	16	43,922,055 (GRCm39)	splice site	probably benign
R1777:Atp6v1a	UTSW	16	43,935,068 (GRCm39)	nonsense	probably null
R2370:Atp6v1a	UTSW	16	43,927,403 (GRCm39)	missense	probably benign	0.10
R2932:Atp6v1a	UTSW	16	43,909,406 (GRCm39)	missense	probably benign	0.03
R3725:Atp6v1a	UTSW	16	43,922,120 (GRCm39)	splice site	probably benign
R4224:Atp6v1a	UTSW	16	43,922,174 (GRCm39)	missense	probably damaging	1.00
R5780:Atp6v1a	UTSW	16	43,935,006 (GRCm39)	missense	probably benign	0.01
R5945:Atp6v1a	UTSW	16	43,920,309 (GRCm39)	missense	probably damaging	0.99
R6032:Atp6v1a	UTSW	16	43,927,303 (GRCm39)	missense	probably damaging	1.00
R6032:Atp6v1a	UTSW	16	43,927,303 (GRCm39)	missense	probably damaging	1.00
R6036:Atp6v1a	UTSW	16	43,919,194 (GRCm39)	missense	probably benign	0.02
R6036:Atp6v1a	UTSW	16	43,919,194 (GRCm39)	missense	probably benign	0.02
R6387:Atp6v1a	UTSW	16	43,907,806 (GRCm39)	missense	possibly damaging	0.76
R6479:Atp6v1a	UTSW	16	43,919,121 (GRCm39)	missense	probably benign	0.00
R6756:Atp6v1a	UTSW	16	43,909,421 (GRCm39)	missense	probably benign	0.18
R8508:Atp6v1a	UTSW	16	43,922,225 (GRCm39)	missense	probably damaging	1.00
R8694:Atp6v1a	UTSW	16	43,921,991 (GRCm39)	missense	probably damaging	1.00
R9448:Atp6v1a	UTSW	16	43,931,872 (GRCm39)	nonsense	probably null

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