Mutagenetix > Incidental Mutation

Incidental Mutation 'R4798:Atp6v1c1'

369253

Institutional Source

Beutler Lab

Gene Symbol

Atp6v1c1

Ensembl Gene

ENSMUSG00000022295

Gene Name

ATPase, H+ transporting, lysosomal V1 subunit C1

Synonyms

1700025B18Rik

MMRRC Submission

042422-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4798 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

38662177-38692690 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 38689420 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 294 (W294R)

Ref Sequence

ENSEMBL: ENSMUSP00000022904 (fasta)

Gene Model

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

AlphaFold

Q9Z1G3

Predicted Effect

probably damaging
Transcript: ENSMUST00000022904
AA Change: W294R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000022904
Gene: ENSMUSG00000022295
AA Change: W294R

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

Predicted Effect

probably benign
Transcript: ENSMUST00000226533

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228475

Meta Mutation Damage Score

0.9312

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.6%

Validation Efficiency

97% (111/114)

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: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	C	13: 77,471,843 (GRCm39)	W1083R	possibly damaging	Het
Adamts10	T	A	17: 33,747,726 (GRCm39)	L54Q	probably damaging	Het
Ankrd24	A	C	10: 81,479,149 (GRCm39)		probably benign	Het
Atg2b	A	G	12: 105,618,888 (GRCm39)	S813P	probably benign	Het
Atp13a3	T	A	16: 30,160,058 (GRCm39)	I716F	probably damaging	Het
Atrnl1	G	T	19: 58,030,793 (GRCm39)	A1312S	probably benign	Het
Bcl2	A	T	1: 106,640,338 (GRCm39)	H91Q	possibly damaging	Het
Cacna1c	G	A	6: 118,607,263 (GRCm39)	Q1214*	probably null	Het
Cacna1g	C	A	11: 94,324,673 (GRCm39)	G1183W	probably damaging	Het
Capsl	A	T	15: 9,461,828 (GRCm39)	M75L	probably benign	Het
Ccdc122	T	G	14: 77,349,047 (GRCm39)		probably benign	Het
Ccdc57	T	G	11: 120,772,683 (GRCm39)	R645S	possibly damaging	Het
Cdh8	T	A	8: 99,751,558 (GRCm39)	R720*	probably null	Het
Cenpx	T	G	11: 120,602,610 (GRCm39)		probably benign	Het
Clic3	T	C	2: 25,348,194 (GRCm39)	S114P	probably damaging	Het
Cracdl	A	T	1: 37,664,046 (GRCm39)	D617E	probably benign	Het
Crtac1	A	T	19: 42,312,240 (GRCm39)	W158R	possibly damaging	Het
Dennd2b	C	T	7: 109,156,240 (GRCm39)	G170D	probably damaging	Het
Dhrs11	T	A	11: 84,719,626 (GRCm39)	Q33L	probably benign	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Dpp9	G	T	17: 56,498,016 (GRCm39)	Q647K	probably damaging	Het
Egf	C	T	3: 129,510,327 (GRCm39)	G64D	probably damaging	Het
Eif2b4	C	T	5: 31,346,864 (GRCm39)		probably benign	Het
Epas1	A	G	17: 87,113,267 (GRCm39)	N151S	probably benign	Het
Fastkd1	A	T	2: 69,521,651 (GRCm39)	I707K	probably benign	Het
Fbln2	A	G	6: 91,246,168 (GRCm39)	T1005A	probably benign	Het
Fgfrl1	T	A	5: 108,851,363 (GRCm39)	Y93*	probably null	Het
Fktn	A	G	4: 53,744,637 (GRCm39)	T306A	probably benign	Het
Gabbr2	T	G	4: 46,991,139 (GRCm39)	Y96S	possibly damaging	Het
Gm16332	A	T	1: 139,819,396 (GRCm39)		noncoding transcript	Het
Gm5145	G	T	17: 20,790,810 (GRCm39)	V63F	probably damaging	Het
Gm9970	G	T	5: 31,398,429 (GRCm39)		probably benign	Het
Gpr158	A	G	2: 21,787,993 (GRCm39)	T545A	probably damaging	Het
Heatr1	G	A	13: 12,426,929 (GRCm39)	E685K	probably benign	Het
Herc6	A	T	6: 57,581,151 (GRCm39)	I284F	probably damaging	Het
Hook1	C	G	4: 95,890,794 (GRCm39)	A301G	possibly damaging	Het
Hpcal4	T	A	4: 123,084,491 (GRCm39)	M140K	possibly damaging	Het
Il11ra1	T	C	4: 41,766,096 (GRCm39)		probably benign	Het
Ildr1	A	T	16: 36,542,917 (GRCm39)	H439L	possibly damaging	Het
Itga11	A	G	9: 62,684,009 (GRCm39)		probably null	Het
Jag2	A	T	12: 112,880,252 (GRCm39)	D337E	probably benign	Het
Krt82	C	T	15: 101,458,923 (GRCm39)	R39Q	probably benign	Het
L3mbtl4	T	A	17: 68,666,475 (GRCm39)	M1K	probably null	Het
Lrrc32	T	G	7: 98,148,224 (GRCm39)	F335V	probably damaging	Het
Lurap1l	T	A	4: 80,829,650 (GRCm39)	V20E	probably damaging	Het
Lyar	T	A	5: 38,385,230 (GRCm39)	V90D	possibly damaging	Het
Man2c1	C	T	9: 57,048,469 (GRCm39)	R778*	probably null	Het
Mapk6	A	G	9: 75,295,714 (GRCm39)	F595L	probably benign	Het
Mccc1	A	G	3: 36,039,150 (GRCm39)	I281T	probably damaging	Het
Mep1b	T	C	18: 21,226,311 (GRCm39)	V391A	probably damaging	Het
Mier1	G	A	4: 102,988,195 (GRCm39)	D40N	probably damaging	Het
Mkx	T	C	18: 7,002,432 (GRCm39)	H38R	probably benign	Het
Mroh4	A	G	15: 74,498,028 (GRCm39)	L184P	probably damaging	Het
Muc2	C	A	7: 141,307,877 (GRCm39)	N834K	probably benign	Het
Mycl	A	G	4: 122,894,049 (GRCm39)	D283G	probably damaging	Het
Myh6	T	C	14: 55,190,750 (GRCm39)	N975S	probably damaging	Het
Myl12a	A	G	17: 71,303,297 (GRCm39)		probably benign	Het
Mysm1	T	C	4: 94,853,910 (GRCm39)	T230A	probably benign	Het
Naca	A	G	10: 127,883,672 (GRCm39)	K2099R	probably null	Het
Nbeal1	T	G	1: 60,261,352 (GRCm39)		probably null	Het
Nedd1	A	G	10: 92,534,772 (GRCm39)	V246A	probably benign	Het
Nid2	A	G	14: 19,839,829 (GRCm39)	D806G	probably benign	Het
Ninl	G	A	2: 150,801,801 (GRCm39)	R156*	probably null	Het
Obscn	T	A	11: 58,960,685 (GRCm39)	I3418F	probably damaging	Het
Or8g37	T	A	9: 39,731,193 (GRCm39)	V86E	probably benign	Het
Pappa2	T	C	1: 158,684,949 (GRCm39)	N730S	probably damaging	Het
Pcm1	G	A	8: 41,746,715 (GRCm39)	D1305N	probably damaging	Het
Pcsk4	A	T	10: 80,158,938 (GRCm39)	I485N	probably damaging	Het
Phldb2	T	C	16: 45,646,237 (GRCm39)	R111G	probably damaging	Het
Prdm10	T	C	9: 31,252,569 (GRCm39)	F385S	probably damaging	Het
Prkcsh	C	T	9: 21,923,034 (GRCm39)	P351L	probably damaging	Het
Prrc2a	G	A	17: 35,369,018 (GRCm39)	P2006L	probably damaging	Het
Rad51c	T	C	11: 87,286,204 (GRCm39)	D251G	probably damaging	Het
Radil	A	G	5: 142,470,918 (GRCm39)	F1088L	probably benign	Het
Rere	C	A	4: 150,699,624 (GRCm39)		probably benign	Het
Rnf167	T	A	11: 70,540,961 (GRCm39)	C196S	probably benign	Het
Robo2	T	A	16: 74,149,633 (GRCm39)	Y65F	probably damaging	Het
Scarf2	G	A	16: 17,621,371 (GRCm39)	C319Y	probably damaging	Het
Sec24c	A	G	14: 20,743,780 (GRCm39)	D995G	probably damaging	Het
Selenbp1	T	C	3: 94,851,211 (GRCm39)	L369S	probably benign	Het
Sgpl1	A	T	10: 60,959,123 (GRCm39)	I53K	possibly damaging	Het
Sh3bp5	C	A	14: 31,099,452 (GRCm39)	R265L	probably benign	Het
Slc1a6	A	T	10: 78,635,952 (GRCm39)	Y339F	probably damaging	Het
Smchd1	G	T	17: 71,667,048 (GRCm39)	Y1781*	probably null	Het
Smg1	T	C	7: 117,779,697 (GRCm39)	S1233G	probably benign	Het
Snap91	A	T	9: 86,665,507 (GRCm39)		probably benign	Het
Snx29	T	A	16: 11,238,600 (GRCm39)	L112Q	probably damaging	Het
Sptbn5	T	C	2: 119,889,622 (GRCm39)		probably benign	Het
Srl	A	T	16: 4,310,222 (GRCm39)	H502Q	possibly damaging	Het
St8sia3	A	G	18: 64,404,820 (GRCm39)	M366V	probably benign	Het
Stk19	A	T	17: 35,041,485 (GRCm39)		probably benign	Het
Syngap1	G	A	17: 27,180,423 (GRCm39)	A611T	probably benign	Het
Tas2r113	A	G	6: 132,870,670 (GRCm39)	T233A	possibly damaging	Het
Tbcc	G	A	17: 47,202,145 (GRCm39)	W177*	probably null	Het
Tcstv3	T	A	13: 120,779,618 (GRCm39)		probably null	Het
Trav13-5	T	A	14: 54,033,408 (GRCm39)	C106S	probably damaging	Het
Trmt61a	G	A	12: 111,645,147 (GRCm39)	V28M	possibly damaging	Het
Ubap2l	G	A	3: 89,928,210 (GRCm39)	T553M	probably damaging	Het
Urb1	T	C	16: 90,554,715 (GRCm39)	N1839S	probably benign	Het
Ush2a	T	C	1: 188,475,742 (GRCm39)	L2893P	probably damaging	Het
Usp24	G	A	4: 106,217,359 (GRCm39)	V421M	possibly damaging	Het
Vmn1r43	T	C	6: 89,846,892 (GRCm39)	E198G	probably benign	Het
Vps13d	A	C	4: 144,904,626 (GRCm39)	S130A	probably damaging	Het
Zfp426	T	A	9: 20,382,310 (GRCm39)	I211F	probably benign	Het
Znfx1	T	C	2: 166,880,489 (GRCm39)		probably null	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
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
R6177:Atp6v1c1	UTSW	15	38,674,172 (GRCm39)	nonsense	probably null
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'- GGCTTACCCTTTCGTTTAAGAG -3'
(R):5'- CACTTGACAAGCTGTGTGACC -3'

Sequencing Primer
(F):5'- ACCCTTTCGTTTAAGAGCATGG -3'
(R):5'- TGACAAGCTGTGTGACCCTGAC -3'

Posted On

2016-02-04