Mutagenetix > Incidental Mutation

Incidental Mutation 'R5945:Atp6v1a'

460586

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

044137-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.968) question?

Stock #

R5945 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

43905765-43960055 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 43920309 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 429 (V429A)

Ref Sequence

ENSEMBL: ENSMUSP00000110314 (fasta)

Gene Model

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

AlphaFold

P50516

Predicted Effect

probably damaging
Transcript: ENSMUST00000063661
AA Change: V429A

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000066886
Gene: ENSMUSG00000052459
AA Change: V429A

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 damaging
Transcript: ENSMUST00000114666
AA Change: V429A

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000110314
Gene: ENSMUSG00000052459
AA Change: V429A

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

noncoding transcript
Transcript: ENSMUST00000130036

Meta Mutation Damage Score

0.5374

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.6%

Validation Efficiency

100% (101/101)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930488N24Rik	T	C	17: 14,326,601 (GRCm39)		noncoding transcript	Het
Abca13	C	T	11: 9,243,398 (GRCm39)	H1754Y	probably benign	Het
Abi1	T	C	2: 22,929,977 (GRCm39)	E34G	probably damaging	Het
Apobec3	C	T	15: 79,782,047 (GRCm39)	T19I	probably damaging	Het
Arel1	C	A	12: 84,973,121 (GRCm39)	V559L	probably benign	Het
Arhgef10	T	C	8: 15,030,028 (GRCm39)		probably null	Het
Asb6	T	C	2: 30,718,215 (GRCm39)		probably benign	Het
Asxl2	T	C	12: 3,550,439 (GRCm39)	V727A	possibly damaging	Het
Atp13a5	C	A	16: 29,055,995 (GRCm39)	R1100L	probably benign	Het
Caml	A	G	13: 55,776,445 (GRCm39)	Y228C	probably damaging	Het
Ccdc14	A	G	16: 34,543,958 (GRCm39)	E772G	probably damaging	Het
Ccdc96	A	G	5: 36,643,194 (GRCm39)	E400G	probably damaging	Het
Ces1h	T	A	8: 94,090,254 (GRCm39)	E266V	probably benign	Het
Chd5	G	T	4: 152,464,408 (GRCm39)	Q1522H	probably benign	Het
CN725425	T	A	15: 91,129,980 (GRCm39)	I281N	possibly damaging	Het
Cngb3	A	T	4: 19,283,579 (GRCm39)	E62V	probably null	Het
Cops5	T	A	1: 10,108,235 (GRCm39)		probably benign	Het
Crhr2	T	A	6: 55,077,667 (GRCm39)	I232F	possibly damaging	Het
Cxcl3	C	T	5: 90,934,175 (GRCm39)		probably benign	Het
Ddx31	T	A	2: 28,749,902 (GRCm39)	I308N	probably damaging	Het
Efcab14	T	A	4: 115,613,664 (GRCm39)	V204D	probably damaging	Het
Emsy	T	C	7: 98,268,590 (GRCm39)	T484A	probably damaging	Het
Ep400	A	T	5: 110,830,732 (GRCm39)	I2257N	unknown	Het
Epb41l4a	T	A	18: 33,961,783 (GRCm39)	Q420L	possibly damaging	Het
Fat4	A	G	3: 39,037,355 (GRCm39)	D3669G	probably benign	Het
Fmnl2	C	A	2: 53,004,211 (GRCm39)	T607K	probably damaging	Het
Glod4	T	C	11: 76,125,297 (GRCm39)	Y135C	probably damaging	Het
Gm10912	A	G	2: 103,896,961 (GRCm39)	I33M	possibly damaging	Het
Gm5592	T	C	7: 40,865,036 (GRCm39)		probably benign	Het
Gria4	A	G	9: 4,456,122 (GRCm39)	L726P	probably damaging	Het
H2-M10.4	T	C	17: 36,771,518 (GRCm39)	E220G	probably benign	Het
Itga1	T	G	13: 115,103,126 (GRCm39)	N1102H	probably benign	Het
Itpk1	A	G	12: 102,554,812 (GRCm39)	I6T	probably damaging	Het
Kcnh4	T	C	11: 100,636,148 (GRCm39)	D833G	probably damaging	Het
Kdm1a	T	C	4: 136,296,012 (GRCm39)		probably null	Het
Kif24	G	A	4: 41,428,670 (GRCm39)	Q97*	probably null	Het
Klhl2	T	C	8: 65,202,762 (GRCm39)	I479V	probably benign	Het
Large1	T	C	8: 73,578,828 (GRCm39)	Y459C	probably damaging	Het
Lcn8	T	G	2: 25,545,509 (GRCm39)	L169R	probably damaging	Het
Loxl3	T	G	6: 83,014,492 (GRCm39)	S133R	probably damaging	Het
Lyzl4	A	G	9: 121,413,529 (GRCm39)	Y4H	unknown	Het
Marchf7	A	G	2: 60,071,331 (GRCm39)	K612E	probably damaging	Het
Mreg	C	T	1: 72,231,359 (GRCm39)	G33D	probably benign	Het
Ms4a6c	A	C	19: 11,457,863 (GRCm39)		probably benign	Het
Nrbf2	G	A	10: 67,103,299 (GRCm39)	S268F	possibly damaging	Het
Oog4	T	A	4: 143,164,293 (GRCm39)	I341F	probably benign	Het
Or4k5	A	G	14: 50,386,220 (GRCm39)	V37A	probably benign	Het
Or5h26	A	G	16: 58,988,482 (GRCm39)	L8P	probably benign	Het
Or5h27	C	T	16: 59,006,091 (GRCm39)	V252I	unknown	Het
Or5l14	A	T	2: 87,792,946 (GRCm39)	C97S	probably damaging	Het
Pcdhb5	G	A	18: 37,454,523 (GRCm39)	R301Q	probably benign	Het
Podn	T	C	4: 107,878,910 (GRCm39)	K174R	possibly damaging	Het
Pphln1	T	C	15: 93,353,413 (GRCm39)		probably null	Het
Ppp2r1a	C	G	17: 21,179,675 (GRCm39)	H112D	possibly damaging	Het
Prmt5	A	G	14: 54,752,344 (GRCm39)	F151L	possibly damaging	Het
Ptch1	A	T	13: 63,721,233 (GRCm39)		probably benign	Het
Rgl2	A	G	17: 34,151,012 (GRCm39)		probably null	Het
Ryr2	A	T	13: 11,675,008 (GRCm39)	I3373N	probably damaging	Het
Scap	A	G	9: 110,213,664 (GRCm39)	N1209S	probably benign	Het
Sin3b	T	C	8: 73,457,793 (GRCm39)	S170P	probably damaging	Het
Slc22a4	A	T	11: 53,886,854 (GRCm39)	I296N	probably damaging	Het
Slco1a8	T	A	6: 141,940,008 (GRCm39)	N145I	probably damaging	Het
Slco2a1	T	C	9: 102,923,989 (GRCm39)	S68P	probably damaging	Het
Snx8	A	G	5: 140,339,235 (GRCm39)	C161R	probably benign	Het
Spryd3	C	T	15: 102,026,630 (GRCm39)	C347Y	probably benign	Het
Srsf11	C	T	3: 157,728,981 (GRCm39)		probably benign	Het
Strn3	T	C	12: 51,676,279 (GRCm39)	T333A	probably benign	Het
Swt1	T	A	1: 151,286,921 (GRCm39)	E190D	probably benign	Het
Tchh	A	T	3: 93,352,644 (GRCm39)	I695F	unknown	Het
Tfap4	G	A	16: 4,363,493 (GRCm39)	S314L	possibly damaging	Het
Tigd3	G	T	19: 5,941,894 (GRCm39)	T412K	probably benign	Het
Tmem184b	T	A	15: 79,249,681 (GRCm39)		probably null	Het
Trpa1	T	C	1: 14,968,359 (GRCm39)	D469G	probably benign	Het
Tssk1	T	C	16: 17,712,565 (GRCm39)	F117L	probably damaging	Het
Tuba3b	T	A	6: 145,565,471 (GRCm39)	M313K	probably damaging	Het
Tubgcp6	T	C	15: 88,993,420 (GRCm39)		probably null	Het
Vav1	A	G	17: 57,608,870 (GRCm39)	K345E	possibly damaging	Het
Zdhhc4	G	A	5: 143,310,641 (GRCm39)	R64C	probably damaging	Het
Zfp280d	T	A	9: 72,269,614 (GRCm39)	L892*	probably null	Het
Zfp46	T	A	4: 136,014,528 (GRCm39)	M3K	probably damaging	Het
Zfp607b	C	A	7: 27,401,841 (GRCm39)	P99Q	probably benign	Het
Zfp647	G	A	15: 76,796,285 (GRCm39)	P125L	probably damaging	Het
Zfp990	T	A	4: 145,264,613 (GRCm39)	I537N	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
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
R7313:Atp6v1a	UTSW	16	43,934,980 (GRCm39)	missense	probably benign	0.00
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'- GCATTATGCAGTTTGGGGCC -3'
(R):5'- TGAAGCTTTGGATCCCATTTCTAGC -3'

Sequencing Primer
(F):5'- GGGGCCTATTTAGTTCTATACCTAAG -3'
(R):5'- TGGATCCCATTTCTAGCAATAAAAAC -3'

Posted On

2017-02-28