Mutagenetix > Incidental Mutation

Incidental Mutation 'R6177:Atp6v1c1'

487842

Institutional Source

Beutler Lab

Gene Symbol

Atp6v1c1

Ensembl Gene

ENSMUSG00000022295

Gene Name

ATPase, H+ transporting, lysosomal V1 subunit C1

Synonyms

1700025B18Rik

MMRRC Submission

044319-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6177 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

38662177-38692690 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 38674172 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Stop codon at position 55 (S55*)

Ref Sequence

ENSEMBL: ENSMUSP00000153731 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022904] [ENSMUST00000226533] [ENSMUST00000228820]

AlphaFold

Q9Z1G3

Predicted Effect

probably null
Transcript: ENSMUST00000022904
AA Change: S55*

SMART Domains

Protein: ENSMUSP00000022904
Gene: ENSMUSG00000022295
AA Change: S55*

Domain	Start	End	E-Value	Type
Pfam:V-ATPase_C	4	370	1.2e-168	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226487

Predicted Effect

probably null
Transcript: ENSMUST00000226533
AA Change: S55*

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227482

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228475

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228486

Predicted Effect

probably benign
Transcript: ENSMUST00000228820

Meta Mutation Damage Score

0.9754

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.7%

Validation Efficiency

100% (65/65)

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 intracellular compartments of eukaryotic cells. V-ATPase dependent 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 is one of two genes that encode the V1 domain C subunit proteins and is found ubiquitously. This C subunit is analogous but not homologous to gamma subunit of F-ATPases. Previously, this gene was designated ATP6D. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd2	T	C	15: 91,074,896 (GRCm39)	I306V	probably damaging	Het
Actrt3	A	T	3: 30,652,316 (GRCm39)	Y259*	probably null	Het
Ankfy1	G	A	11: 72,645,285 (GRCm39)	C788Y	probably benign	Het
Ano1	T	A	7: 144,232,478 (GRCm39)	M25L	possibly damaging	Het
Apol10b	A	T	15: 77,469,987 (GRCm39)	D63E	possibly damaging	Het
C1s2	T	G	6: 124,606,960 (GRCm39)	D296A	probably damaging	Het
Cabs1	C	T	5: 88,127,613 (GRCm39)	T88I	possibly damaging	Het
Cadm4	G	A	7: 24,202,186 (GRCm39)	V342M	possibly damaging	Het
Cat	T	C	2: 103,303,420 (GRCm39)	E119G	probably damaging	Het
Cavin2	G	T	1: 51,328,654 (GRCm39)	S37I	probably damaging	Het
Cdhr18	T	C	14: 13,868,002 (GRCm38)	D229G	probably benign	Het
Cdk5rap2	G	A	4: 70,199,719 (GRCm39)	R802C	probably damaging	Het
Clip1	A	G	5: 123,751,897 (GRCm39)		probably benign	Het
Dhx57	T	C	17: 80,580,395 (GRCm39)	N519S	possibly damaging	Het
Dpep2	T	C	8: 106,712,831 (GRCm39)	D260G	probably damaging	Het
Edem1	T	A	6: 108,828,159 (GRCm39)		probably null	Het
Epb41l4a	A	T	18: 33,931,868 (GRCm39)		probably null	Het
Esp1	T	C	17: 41,039,723 (GRCm39)	S3P	possibly damaging	Het
Fam111a	A	G	19: 12,564,746 (GRCm39)	Y165C	probably damaging	Het
Fstl4	A	G	11: 53,059,031 (GRCm39)	T497A	probably benign	Het
Gstcd	T	C	3: 132,787,834 (GRCm39)	D288G	probably damaging	Het
Hmcn2	T	A	2: 31,310,118 (GRCm39)	L3264*	probably null	Het
Hyal4	T	A	6: 24,766,089 (GRCm39)	L481*	probably null	Het
Ighv2-7	A	G	12: 113,771,055 (GRCm39)	Y77H	possibly damaging	Het
Jdp2	G	T	12: 85,685,614 (GRCm39)	R125L	probably benign	Het
Lrp1b	A	T	2: 41,013,748 (GRCm39)		probably null	Het
Lrp2	AC	A	2: 69,340,763 (GRCm39)		probably null	Het
Marveld2	C	T	13: 100,733,886 (GRCm39)	D250N	probably damaging	Het
Mast3	A	G	8: 71,242,662 (GRCm39)	S53P	probably damaging	Het
Ms4a20	A	G	19: 11,083,114 (GRCm39)	I102T	possibly damaging	Het
Myo3b	T	C	2: 70,143,707 (GRCm39)	V1041A	probably benign	Het
Nkpd1	T	A	7: 19,257,009 (GRCm39)	F113I	probably damaging	Het
Obscn	A	G	11: 58,923,490 (GRCm39)	S6470P	probably damaging	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
Or4a73	T	C	2: 89,420,661 (GRCm39)	D266G	possibly damaging	Het
Or9g4b	C	T	2: 85,616,004 (GRCm39)	R50C	probably damaging	Het
Pdcd11	G	T	19: 47,108,722 (GRCm39)	G1246V	probably damaging	Het
Phc3	A	T	3: 30,996,714 (GRCm39)	S219T	probably damaging	Het
Plxnb1	C	T	9: 108,931,993 (GRCm39)		probably null	Het
Polh	T	C	17: 46,495,670 (GRCm39)	D276G	possibly damaging	Het
Polq	T	A	16: 36,892,071 (GRCm39)	V1991E	probably damaging	Het
Polr2g	G	A	19: 8,771,541 (GRCm39)	R144C	probably damaging	Het
Pramel16	G	A	4: 143,675,576 (GRCm39)	H417Y	possibly damaging	Het
Prex2	A	C	1: 11,207,001 (GRCm39)	T520P	possibly damaging	Het
Psg21	T	A	7: 18,386,279 (GRCm39)	T236S	possibly damaging	Het
Ptpru	A	T	4: 131,520,836 (GRCm39)	S761R	probably benign	Het
Rapgef6	G	A	11: 54,510,842 (GRCm39)	R253Q	probably damaging	Het
Rc3h2	C	T	2: 37,279,658 (GRCm39)	V524I	probably benign	Het
Sde2	T	C	1: 180,685,784 (GRCm39)	V112A	probably damaging	Het
Septin7	T	C	9: 25,205,100 (GRCm39)		probably null	Het
Spef2	A	G	15: 9,727,618 (GRCm39)	V155A	possibly damaging	Het
St7	T	C	6: 17,819,333 (GRCm39)		probably null	Het
Tmcc3	A	T	10: 94,418,249 (GRCm39)	Y339F	probably damaging	Het
Tmed6	T	C	8: 107,792,083 (GRCm39)	E54G	probably damaging	Het
Tnks1bp1	C	T	2: 84,889,624 (GRCm39)		probably benign	Het
Trim43c	T	C	9: 88,722,600 (GRCm39)	L82P	possibly damaging	Het
Txndc2	T	C	17: 65,945,466 (GRCm39)	D237G	probably benign	Het
Vmn1r91	T	A	7: 19,835,404 (GRCm39)	C108S	possibly damaging	Het
Vtn	A	T	11: 78,390,836 (GRCm39)	D165V	probably damaging	Het
Wdr3	A	T	3: 100,068,468 (GRCm39)	S13R	probably damaging	Het
Zdhhc16	A	G	19: 41,926,198 (GRCm39)	Y31C	probably benign	Het
Zfp39	A	T	11: 58,781,887 (GRCm39)	W292R	probably benign	Het
Zfp612	A	T	8: 110,816,606 (GRCm39)	L604F	probably damaging	Het

Other mutations in Atp6v1c1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00496:Atp6v1c1	APN	15	38,687,100 (GRCm39)	missense	probably damaging	0.99
IGL01371:Atp6v1c1	APN	15	38,683,204 (GRCm39)	missense	probably benign
IGL02987:Atp6v1c1	APN	15	38,690,806 (GRCm39)	missense	possibly damaging	0.70
P0029:Atp6v1c1	UTSW	15	38,687,146 (GRCm39)	unclassified	probably benign
R0550:Atp6v1c1	UTSW	15	38,683,173 (GRCm39)	splice site	probably benign
R0669:Atp6v1c1	UTSW	15	38,677,772 (GRCm39)	missense	probably benign	0.00
R2033:Atp6v1c1	UTSW	15	38,674,210 (GRCm39)	critical splice donor site	probably null
R3021:Atp6v1c1	UTSW	15	38,689,460 (GRCm39)	missense	possibly damaging	0.75
R4475:Atp6v1c1	UTSW	15	38,677,817 (GRCm39)	missense	probably benign	0.03
R4612:Atp6v1c1	UTSW	15	38,677,856 (GRCm39)	missense	probably damaging	1.00
R4798:Atp6v1c1	UTSW	15	38,689,420 (GRCm39)	missense	probably damaging	1.00
R5095:Atp6v1c1	UTSW	15	38,679,657 (GRCm39)	critical splice donor site	probably null
R5600:Atp6v1c1	UTSW	15	38,687,107 (GRCm39)	missense	probably benign	0.17
R6434:Atp6v1c1	UTSW	15	38,677,790 (GRCm39)	missense	probably damaging	0.99
R6916:Atp6v1c1	UTSW	15	38,677,825 (GRCm39)	missense	probably benign	0.00
R6973:Atp6v1c1	UTSW	15	38,690,794 (GRCm39)	missense	probably damaging	1.00
R7395:Atp6v1c1	UTSW	15	38,691,949 (GRCm39)	makesense	probably null
R7607:Atp6v1c1	UTSW	15	38,683,255 (GRCm39)	critical splice donor site	probably null
R7712:Atp6v1c1	UTSW	15	38,687,049 (GRCm39)	missense	probably benign	0.00
R8830:Atp6v1c1	UTSW	15	38,677,789 (GRCm39)	missense	probably damaging	0.98
R9195:Atp6v1c1	UTSW	15	38,674,198 (GRCm39)	missense	probably damaging	1.00
R9640:Atp6v1c1	UTSW	15	38,689,381 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTAGACCCTTCAGATAAAGATACACC -3'
(R):5'- ACATGCTTGAACCATAGGTGC -3'

Sequencing Primer
(F):5'- TGTAATCCCAGCACTGAAGAG -3'
(R):5'- TGAACCATAGGTGCACATGTG -3'

Posted On

2017-10-10