Mutagenetix > Incidental Mutation

Incidental Mutation 'R9504:Atp6v0c'

717748

Institutional Source

Beutler Lab

Gene Symbol

Atp6v0c

Ensembl Gene

ENSMUSG00000024121

Gene Name

ATPase, H+ transporting, lysosomal V0 subunit C

Synonyms

Atp6l, Atp6c2, H(+)-ATPase (mvp), Atpl-rs1, PL16, proteolipid, Atpl

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9504 (G1)

Quality Score

152.008

Status

Not validated

Chromosome

Chromosomal Location

24382839-24388652 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 24383493 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 118 (V118A)

Ref Sequence

ENSEMBL: ENSMUSP00000024932 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024932] [ENSMUST00000040735] [ENSMUST00000098862] [ENSMUST00000129523] [ENSMUST00000148541] [ENSMUST00000150647] [ENSMUST00000202853]

AlphaFold

P63082

Predicted Effect

possibly damaging
Transcript: ENSMUST00000024932
AA Change: V118A

PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000024932
Gene: ENSMUSG00000024121
AA Change: V118A

Domain	Start	End	E-Value	Type
Pfam:ATP-synt_C	14	79	5.6e-17	PFAM
Pfam:ATP-synt_C	90	155	1.8e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000040735

SMART Domains

Protein: ENSMUSP00000036141
Gene: ENSMUSG00000036820

Domain	Start	End	E-Value	Type
Pfam:Amidohydro_1	62	401	7.2e-18	PFAM
Pfam:Amidohydro_3	327	404	5.3e-10	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000098862
AA Change: V118A

PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000111059
Gene: ENSMUSG00000024121
AA Change: V118A

Domain	Start	End	E-Value	Type
Pfam:ATP-synt_C	15	77	1.1e-14	PFAM
Pfam:ATP-synt_C	92	153	1.1e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000129523

SMART Domains

Protein: ENSMUSP00000120520
Gene: ENSMUSG00000036820

Domain	Start	End	E-Value	Type
Pfam:Amidohydro_5	1	71	1.5e-7	PFAM
Pfam:Amidohydro_4	22	176	2.5e-9	PFAM
Pfam:Amidohydro_1	27	134	2.7e-7	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000148541
AA Change: V118A

PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000121464
Gene: ENSMUSG00000024121
AA Change: V118A

Domain	Start	End	E-Value	Type
Pfam:ATP-synt_C	14	79	5.2e-17	PFAM
Pfam:ATP-synt_C	90	150	1.2e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000150647

SMART Domains

Protein: ENSMUSP00000122843
Gene: ENSMUSG00000024121

Domain	Start	End	E-Value	Type
Pfam:ATP-synt_C	32	85	5.1e-15	PFAM
transmembrane domain	93	115	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000202853

SMART Domains

Protein: ENSMUSP00000144462
Gene: ENSMUSG00000107169

Domain	Start	End	E-Value	Type
TBC	42	259	8.8e-6	SMART
Blast:TLDc	283	321	4e-13	BLAST

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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. This gene encodes the V0 subunit c. Alternative splicing results in transcript variants. Pseudogenes have been identified on chromosomes 6 and 17. [provided by RefSeq, Nov 2010]
PHENOTYPE: Homozygous mutation of this gene results in embryonic lethality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh1b1	T	C	4: 45,802,905 (GRCm39)	Y148H	probably damaging	Het
Ankib1	A	G	5: 3,763,235 (GRCm39)	V498A	probably benign	Het
Bcan	G	A	3: 87,900,748 (GRCm39)	P495L	probably benign	Het
Bnip3l	G	A	14: 67,246,214 (GRCm39)	P7L	possibly damaging	Het
Ccdc178	T	C	18: 22,238,708 (GRCm39)	E303G	possibly damaging	Het
Ccdc47	T	C	11: 106,101,155 (GRCm39)	N169S	probably benign	Het
Cldn23	A	T	8: 36,293,470 (GRCm39)	V6E	probably damaging	Het
Dip2a	T	C	10: 76,132,189 (GRCm39)	T560A	probably damaging	Het
Ephb3	A	G	16: 21,036,830 (GRCm39)	S352G	possibly damaging	Het
Far2	C	A	6: 148,059,453 (GRCm39)	A256E	probably damaging	Het
Gga1	C	T	15: 78,767,528 (GRCm39)	R89C	probably damaging	Het
Hbb-bh2	A	G	7: 103,489,339 (GRCm39)	S71P	probably damaging	Het
Lama1	T	A	17: 68,128,661 (GRCm39)	V3006D		Het
Lypd9	A	G	11: 58,337,215 (GRCm39)	V86A	probably benign	Het
Mrm1	G	A	11: 84,710,132 (GRCm39)	R23W	probably damaging	Het
Nod2	A	T	8: 89,391,906 (GRCm39)	I738F	probably damaging	Het
Or1p1b	C	T	11: 74,131,094 (GRCm39)	R235C	probably benign	Het
Or4c35	G	T	2: 89,808,497 (GRCm39)	C125F	probably damaging	Het
Or8b4	A	G	9: 37,830,163 (GRCm39)	D70G	probably damaging	Het
Pkd1l1	A	G	11: 8,815,631 (GRCm39)	W1877R		Het
Psmd2	C	T	16: 20,478,160 (GRCm39)	A515V	probably benign	Het
Samd9l	A	G	6: 3,372,621 (GRCm39)	Y1547H	probably benign	Het
Sgsh	T	C	11: 119,237,375 (GRCm39)	N413S	probably benign	Het
Slmap	G	A	14: 26,136,133 (GRCm39)	P819L	probably damaging	Het
Steap4	A	G	5: 8,030,538 (GRCm39)	N465D	probably benign	Het
Sult3a2	T	C	10: 33,642,436 (GRCm39)	N289S	probably benign	Het
Tbx2	T	A	11: 85,724,038 (GRCm39)	S36T	possibly damaging	Het
Tcstv1a	G	A	13: 120,355,267 (GRCm39)	Q122*	probably null	Het
Tnk2	T	C	16: 32,498,961 (GRCm39)	V758A	possibly damaging	Het
Trrap	C	T	5: 144,742,904 (GRCm39)	T1425M	probably damaging	Het
Ttc9b	A	G	7: 27,354,394 (GRCm39)	K160R	probably damaging	Het
Vinac1	C	T	2: 128,881,189 (GRCm39)	A246T		Het
Zfp959	T	A	17: 56,204,793 (GRCm39)	Y277N	probably benign	Het

Other mutations in Atp6v0c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R2002:Atp6v0c	UTSW	17	24,383,835 (GRCm39)	missense	probably damaging	0.98
R7332:Atp6v0c	UTSW	17	24,388,198 (GRCm39)	missense	probably benign
R8133:Atp6v0c	UTSW	17	24,383,553 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- AAGACCAACTACTGAGGGGC -3'
(R):5'- CATCACCCTCTACAGGTGAGTG -3'

Sequencing Primer
(F):5'- TGCCCGTGCATGTGTCAG -3'
(R):5'- CCTCTACAGGTGAGTGCTGGG -3'

Posted On

2022-07-18