Mutagenetix > Incidental Mutation

Incidental Mutation 'R0458:Atp6v1b1'

41301

Institutional Source

Beutler Lab

Gene Symbol

Atp6v1b1

Ensembl Gene

ENSMUSG00000006269

Gene Name

ATPase, H+ transporting, lysosomal V1 subunit B1

Synonyms

lysosomal 56/58kDa, D630030L16Rik, Vpp-3, Vpp3, D630039P21Rik, Atp6b1

MMRRC Submission

038658-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0458 (G1)

Quality Score

206

Status

Validated

Chromosome

Chromosomal Location

83719999-83735837 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 83729390 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 109 (D109V)

Ref Sequence

ENSEMBL: ENSMUSP00000145710 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006431] [ENSMUST00000205763] [ENSMUST00000206911]

AlphaFold

Q91YH6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000006431
AA Change: D100V

PolyPhen 2 Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000006431
Gene: ENSMUSG00000006269
AA Change: D100V

Domain	Start	End	E-Value	Type
Pfam:ATP-synt_ab_N	44	110	1.9e-14	PFAM
Pfam:ATP-synt_ab	167	393	9.4e-68	PFAM
Pfam:ATP-synt_ab_C	410	508	6.9e-19	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000205763
AA Change: D109V

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205867

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206052

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206652

Predicted Effect

probably benign
Transcript: ENSMUST00000206911

Meta Mutation Damage Score

0.4769

Coding Region Coverage

1x: 99.7%
3x: 98.9%
10x: 97.0%
20x: 94.3%

Validation Efficiency

100% (79/79)

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 B subunit isoforms and is found in the kidney. Mutations in this gene cause distal renal tubular acidosis associated with sensorineural deafness. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted mutation show impaired urinary acidification with a more severe metabolic acidosis and inappropriately alkaline urine after oral acid challenge. However, contrary to expectation, neither hearing nor inner ear morphology areimpaired. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933407L21Rik	A	G	1: 85,856,747 (GRCm39)	E8G	unknown	Het
9130008F23Rik	T	C	17: 41,191,127 (GRCm39)	T101A	probably benign	Het
Abcb8	C	T	5: 24,611,231 (GRCm39)	T455I	probably benign	Het
Abcb9	C	A	5: 124,220,209 (GRCm39)		probably null	Het
Akp3	T	G	1: 87,054,259 (GRCm39)	Y265*	probably null	Het
Aurka	C	A	2: 172,212,366 (GRCm39)	E4*	probably null	Het
Cacna1g	T	A	11: 94,300,266 (GRCm39)	Q2168L	probably damaging	Het
Cdc45	T	A	16: 18,600,722 (GRCm39)		probably benign	Het
Cfap61	T	C	2: 145,850,837 (GRCm39)	V325A	probably benign	Het
Clasp2	T	A	9: 113,735,292 (GRCm39)		probably null	Het
Crim1	T	A	17: 78,620,655 (GRCm39)	I365N	probably damaging	Het
Dcaf8	A	G	1: 172,001,610 (GRCm39)	N269S	probably benign	Het
Dnaaf5	T	C	5: 139,147,633 (GRCm39)	V399A	possibly damaging	Het
Ear2	A	G	14: 44,340,705 (GRCm39)	Y121C	probably damaging	Het
Eef2k	T	C	7: 120,502,513 (GRCm39)	Y692H	probably damaging	Het
Elavl2	A	T	4: 91,197,104 (GRCm39)		probably benign	Het
Epn2	C	A	11: 61,437,281 (GRCm39)	R97L	possibly damaging	Het
Fam243	T	C	16: 92,117,995 (GRCm39)	I98V	probably benign	Het
Fzd6	G	A	15: 38,894,676 (GRCm39)	A281T	probably damaging	Het
Garem2	T	A	5: 30,319,180 (GRCm39)	I214N	probably damaging	Het
Glg1	A	G	8: 111,887,238 (GRCm39)		probably benign	Het
Golm1	T	C	13: 59,812,178 (GRCm39)	E48G	probably damaging	Het
Gpaa1	G	T	15: 76,216,233 (GRCm39)	R12L	probably benign	Het
Gstm1	T	A	3: 107,924,679 (GRCm39)	T34S	probably benign	Het
Gtf3c1	G	A	7: 125,243,306 (GRCm39)	P1766L	possibly damaging	Het
Herc1	A	T	9: 66,383,663 (GRCm39)	Q3709L	probably benign	Het
Hoxa13	CCG	CCGCG	6: 52,237,618 (GRCm39)		probably null	Het
Icam1	A	G	9: 20,939,157 (GRCm39)		probably null	Het
Itga9	T	C	9: 118,510,096 (GRCm39)		probably null	Het
Kif15	T	C	9: 122,838,424 (GRCm39)	F1121L	probably benign	Het
Klhl30	T	A	1: 91,288,718 (GRCm39)		probably benign	Het
Ldlrad1	T	C	4: 107,073,387 (GRCm39)	C141R	probably damaging	Het
Lemd2	T	C	17: 27,409,627 (GRCm39)	D508G	probably damaging	Het
Lilra5	A	C	7: 4,241,218 (GRCm39)	T52P	probably benign	Het
Lrtm2	G	A	6: 119,294,229 (GRCm39)	P301S	probably damaging	Het
Mcoln2	A	G	3: 145,855,768 (GRCm39)		probably benign	Het
Mkrn2os	A	G	6: 115,563,631 (GRCm39)	S135P	probably damaging	Het
Mlxipl	T	C	5: 135,162,224 (GRCm39)	V607A	probably benign	Het
Mmadhc	T	C	2: 50,171,173 (GRCm39)	Y213C	probably benign	Het
Mpo	C	A	11: 87,687,123 (GRCm39)	A223E	probably benign	Het
Mthfd2l	C	G	5: 91,168,036 (GRCm39)	I310M	probably damaging	Het
Muc5b	C	A	7: 141,418,709 (GRCm39)	A3885D	probably benign	Het
Mvp	A	G	7: 126,597,663 (GRCm39)	W152R	probably damaging	Het
Nmur2	A	T	11: 55,931,394 (GRCm39)	F106I	possibly damaging	Het
Nr3c2	T	A	8: 77,636,167 (GRCm39)	F423I	probably damaging	Het
Or1l8	A	G	2: 36,817,349 (GRCm39)	V259A	probably damaging	Het
Or5m5	A	G	2: 85,814,600 (GRCm39)	S139G	probably benign	Het
Or8c16	G	A	9: 38,130,344 (GRCm39)	C75Y	probably damaging	Het
Or9q1	G	T	19: 13,805,593 (GRCm39)	H56N	probably benign	Het
Pappa	A	G	4: 65,074,119 (GRCm39)	I224M	probably damaging	Het
Prex1	A	C	2: 166,427,743 (GRCm39)	S800A	probably damaging	Het
Prkaca	T	C	8: 84,721,911 (GRCm39)		probably benign	Het
Ptpru	A	T	4: 131,526,986 (GRCm39)	V662E	possibly damaging	Het
Rabep1	T	A	11: 70,777,824 (GRCm39)		probably null	Het
Rbms2	C	T	10: 127,987,058 (GRCm39)	C50Y	probably damaging	Het
Rd3	C	T	1: 191,709,414 (GRCm39)	P25S	probably damaging	Het
Rnf148	T	G	6: 23,654,256 (GRCm39)	I247L	probably benign	Het
Sf3b3	A	G	8: 111,538,768 (GRCm39)		probably benign	Het
Slc35c1	A	T	2: 92,284,858 (GRCm39)	F252Y	probably damaging	Het
Slc38a11	T	C	2: 65,193,813 (GRCm39)		probably null	Het
Snx6	G	T	12: 54,814,921 (GRCm39)	Y17*	probably null	Het
Sox6	C	A	7: 115,089,029 (GRCm39)	R611L	probably damaging	Het
Spata13	G	A	14: 60,929,492 (GRCm39)	R350H	probably damaging	Het
Sppl2a	G	T	2: 126,746,879 (GRCm39)	A483D	probably damaging	Het
Stat1	C	T	1: 52,188,211 (GRCm39)		probably benign	Het
Tab2	A	T	10: 7,795,319 (GRCm39)	Y314N	probably damaging	Het
Tor1aip1	T	C	1: 155,906,153 (GRCm39)	N213S	probably damaging	Het
Trim39	T	C	17: 36,572,404 (GRCm39)	K300E	probably damaging	Het
Tubal3	T	C	13: 3,983,137 (GRCm39)	S306P	probably damaging	Het
Ufm1	A	G	3: 53,768,655 (GRCm39)	L33P	probably damaging	Het
Washc4	G	A	10: 83,382,663 (GRCm39)	V26I	possibly damaging	Het
Wfs1	A	G	5: 37,126,013 (GRCm39)	Y293H	probably damaging	Het
Zbtb41	T	C	1: 139,351,214 (GRCm39)	V109A	probably damaging	Het
Zfp667	T	C	7: 6,307,844 (GRCm39)	S171P	probably benign	Het
Zkscan5	T	A	5: 145,142,281 (GRCm39)	H59Q	probably damaging	Het
Zswim8	C	T	14: 20,768,965 (GRCm39)	R1128W	probably damaging	Het

Other mutations in Atp6v1b1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01560:Atp6v1b1	APN	6	83,726,897 (GRCm39)	splice site	probably benign
IGL02005:Atp6v1b1	APN	6	83,730,896 (GRCm39)	unclassified	probably benign
IGL02085:Atp6v1b1	APN	6	83,730,897 (GRCm39)	unclassified	probably benign
IGL02100:Atp6v1b1	APN	6	83,735,426 (GRCm39)	missense	probably damaging	1.00
IGL02267:Atp6v1b1	APN	6	83,733,891 (GRCm39)	missense	probably benign	0.44
IGL02507:Atp6v1b1	APN	6	83,733,837 (GRCm39)	missense	possibly damaging	0.95
IGL02563:Atp6v1b1	APN	6	83,732,433 (GRCm39)	missense	probably benign	0.14
IGL03144:Atp6v1b1	APN	6	83,735,333 (GRCm39)	missense	probably benign	0.02
R0391:Atp6v1b1	UTSW	6	83,733,903 (GRCm39)	missense	possibly damaging	0.93
R0420:Atp6v1b1	UTSW	6	83,729,826 (GRCm39)	unclassified	probably benign
R0561:Atp6v1b1	UTSW	6	83,730,793 (GRCm39)	missense	probably damaging	1.00
R0947:Atp6v1b1	UTSW	6	83,730,814 (GRCm39)	missense	probably damaging	1.00
R1241:Atp6v1b1	UTSW	6	83,733,526 (GRCm39)	unclassified	probably benign
R1417:Atp6v1b1	UTSW	6	83,730,862 (GRCm39)	missense	probably damaging	1.00
R1447:Atp6v1b1	UTSW	6	83,734,924 (GRCm39)	missense	possibly damaging	0.46
R1710:Atp6v1b1	UTSW	6	83,735,372 (GRCm39)	missense	probably benign
R1722:Atp6v1b1	UTSW	6	83,720,074 (GRCm39)	missense	possibly damaging	0.68
R1862:Atp6v1b1	UTSW	6	83,726,834 (GRCm39)	critical splice acceptor site	probably null
R2086:Atp6v1b1	UTSW	6	83,734,834 (GRCm39)	missense	probably benign	0.10
R3433:Atp6v1b1	UTSW	6	83,720,074 (GRCm39)	missense	possibly damaging	0.81
R4193:Atp6v1b1	UTSW	6	83,720,085 (GRCm39)	missense	probably benign	0.01
R4606:Atp6v1b1	UTSW	6	83,729,443 (GRCm39)	missense	probably damaging	1.00
R5901:Atp6v1b1	UTSW	6	83,735,339 (GRCm39)	missense	possibly damaging	0.87
R6156:Atp6v1b1	UTSW	6	83,735,115 (GRCm39)	missense	probably damaging	1.00
R6187:Atp6v1b1	UTSW	6	83,729,377 (GRCm39)	missense	probably damaging	1.00
R6717:Atp6v1b1	UTSW	6	83,730,632 (GRCm39)	splice site	probably null
R6727:Atp6v1b1	UTSW	6	83,728,857 (GRCm39)	unclassified	probably benign
R6952:Atp6v1b1	UTSW	6	83,731,792 (GRCm39)	missense	probably damaging	1.00
R7753:Atp6v1b1	UTSW	6	83,729,440 (GRCm39)	missense	probably benign	0.02
R7852:Atp6v1b1	UTSW	6	83,729,452 (GRCm39)	missense	possibly damaging	0.47
R8421:Atp6v1b1	UTSW	6	83,730,791 (GRCm39)	missense	probably damaging	0.99
R8840:Atp6v1b1	UTSW	6	83,733,845 (GRCm39)	missense

Predicted Primers

PCR Primer
(F):5'- CTCCCTGACAGTTTGCCCAGTATG -3'
(R):5'- GCACCTGTAATGACTTAGCCTCACC -3'

Sequencing Primer
(F):5'- ACCAAGGCCATTGTTCAGG -3'
(R):5'- CACCATTTCATTGTAGAGCATGGTC -3'

Posted On

2013-05-23