Mutagenetix > Incidental Mutation

Incidental Mutation 'R4606:Atp6v1b1'

346011

Institutional Source

Beutler Lab

Gene Symbol

Atp6v1b1

Ensembl Gene

ENSMUSG00000006269

Gene Name

ATPase, H+ transporting, lysosomal V1 subunit B1

Synonyms

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

MMRRC Submission

041817-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4606 (G1)

Quality Score

202

Status

Validated

Chromosome

Chromosomal Location

83742990-83758855 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 83752461 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 127 (S127P)

Ref Sequence

ENSEMBL: ENSMUSP00000145710 (fasta)

Gene Model

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

AlphaFold

Q91YH6

Predicted Effect

probably damaging
Transcript: ENSMUST00000006431
AA Change: S118P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000006431
Gene: ENSMUSG00000006269
AA Change: S118P

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: S127P

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

0.9633

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

96% (69/72)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011L22Rik	A	T	8: 79,210,745	W178R	probably benign	Het
Abcb5	T	C	12: 118,932,610		probably null	Het
Akr1b3	C	A	6: 34,306,664		probably benign	Het
Arid1a	A	G	4: 133,687,323	F1199S	unknown	Het
Atp4b	A	G	8: 13,389,998	F116S	probably damaging	Het
Blk	C	T	14: 63,374,203	V428I	probably benign	Het
C87414	A	T	5: 93,636,602	D137E	probably damaging	Het
Ccser1	T	C	6: 61,311,584	S244P	probably damaging	Het
Ceacam1	T	A	7: 25,474,526	I235F	probably damaging	Het
Cyp2g1	T	A	7: 26,814,154	Y173N	possibly damaging	Het
Ddr2	T	A	1: 170,001,852	I278F	probably benign	Het
Degs1	T	C	1: 182,276,823	D299G	probably damaging	Het
Dip2b	G	A	15: 100,215,329	V1542I	possibly damaging	Het
Dmxl1	T	A	18: 49,962,181	S2942R	probably damaging	Het
Dpf1	T	A	7: 29,316,590		probably benign	Het
Ephb6	A	G	6: 41,616,574	Y518C	probably benign	Het
Eps15l1	A	T	8: 72,373,916	F606I	possibly damaging	Het
Extl1	A	G	4: 134,371,379	S114P	probably damaging	Het
Extl1	A	C	4: 134,371,380	D113E	probably benign	Het
Fat1	T	C	8: 44,950,683	V157A	possibly damaging	Het
Fcho1	A	T	8: 71,712,480	D444E	probably benign	Het
Fgd3	T	A	13: 49,296,560	D71V	probably damaging	Het
Fgd5	T	A	6: 91,988,209	D316E	possibly damaging	Het
Gys2	A	T	6: 142,454,484	F334I	possibly damaging	Het
Ik	G	T	18: 36,753,555	R360L	possibly damaging	Het
Kazn	A	C	4: 142,118,288		probably null	Het
Kmt2d	A	T	15: 98,839,716		probably benign	Het
Krr1	T	C	10: 111,975,677		probably benign	Het
Krt83	C	T	15: 101,487,049	E389K	probably benign	Het
Lrrc4c	T	C	2: 97,630,313	V428A	probably benign	Het
Lvrn	C	A	18: 46,864,765	T260K	possibly damaging	Het
Mcc	C	T	18: 44,468,421	E614K	probably damaging	Het
Msrb3	A	T	10: 120,849,997	V81D	probably damaging	Het
Muc19	C	T	15: 91,934,383		noncoding transcript	Het
Myadm	T	A	7: 3,297,400	L226*	probably null	Het
Myof	C	T	19: 37,967,099	V526M	probably damaging	Het
Nckap5l	A	G	15: 99,429,323		probably benign	Het
Olfr1010	T	A	2: 85,753,940		probably benign	Het
Olfr1260	C	A	2: 89,978,006	A76D	possibly damaging	Het
Olfr1270	G	T	2: 90,148,816		probably benign	Het
Olfr398	A	G	11: 73,983,892	S239P	probably damaging	Het
Pars2	T	C	4: 106,654,050	V307A	probably benign	Het
Pcdhb1	T	G	18: 37,265,528	Y177*	probably null	Het
Pcdhb4	T	A	18: 37,308,652	D338E	probably damaging	Het
Pik3r2	G	A	8: 70,772,136	R199*	probably null	Het
Pla2g4f	C	T	2: 120,313,986	R24Q	probably benign	Het
Pnma2	T	C	14: 66,916,232	I35T	probably benign	Het
Podn	C	A	4: 108,017,867	A568S	probably benign	Het
Pou3f1	A	T	4: 124,658,836	E377V	probably damaging	Het
Ppfia1	T	C	7: 144,485,192	D494G	probably damaging	Het
Ptpn9	A	T	9: 57,022,211	T71S	possibly damaging	Het
Ptprz1	C	T	6: 23,001,487	P1192L	possibly damaging	Het
Rnd2	C	T	11: 101,468,999	L57F	probably damaging	Het
Rnf217	T	A	10: 31,517,476	K370*	probably null	Het
Rpap2	G	A	5: 107,601,795	V62I	possibly damaging	Het
Scaper	A	T	9: 55,655,903		probably null	Het
Sos2	T	C	12: 69,614,606		probably benign	Het
Sptbn5	C	T	2: 120,067,446		probably null	Het
Sumo1	A	G	1: 59,644,509		probably benign	Het
Syne2	C	A	12: 75,989,253	N3771K	probably damaging	Het
Tbx18	T	C	9: 87,730,769	I26V	possibly damaging	Het
Trpm3	T	A	19: 22,978,624	M1140K	probably benign	Het
Usp29	G	A	7: 6,963,357		probably null	Het
Wdr7	C	T	18: 63,779,945	Q946*	probably null	Het
Ythdf1	T	C	2: 180,912,182	D46G	probably damaging	Het
Zfp217	T	C	2: 170,119,750	N219S	possibly damaging	Het
Zkscan3	A	G	13: 21,393,783	I256T	probably benign	Het

Other mutations in Atp6v1b1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01560:Atp6v1b1	APN	6	83749915	splice site	probably benign
IGL02005:Atp6v1b1	APN	6	83753914	unclassified	probably benign
IGL02085:Atp6v1b1	APN	6	83753915	unclassified	probably benign
IGL02100:Atp6v1b1	APN	6	83758444	missense	probably damaging	1.00
IGL02267:Atp6v1b1	APN	6	83756909	missense	probably benign	0.44
IGL02507:Atp6v1b1	APN	6	83756855	missense	possibly damaging	0.95
IGL02563:Atp6v1b1	APN	6	83755451	missense	probably benign	0.14
IGL03144:Atp6v1b1	APN	6	83758351	missense	probably benign	0.02
R0391:Atp6v1b1	UTSW	6	83756921	missense	possibly damaging	0.93
R0420:Atp6v1b1	UTSW	6	83752844	unclassified	probably benign
R0458:Atp6v1b1	UTSW	6	83752408	missense	probably damaging	1.00
R0561:Atp6v1b1	UTSW	6	83753811	missense	probably damaging	1.00
R0947:Atp6v1b1	UTSW	6	83753832	missense	probably damaging	1.00
R1241:Atp6v1b1	UTSW	6	83756544	unclassified	probably benign
R1417:Atp6v1b1	UTSW	6	83753880	missense	probably damaging	1.00
R1447:Atp6v1b1	UTSW	6	83757942	missense	possibly damaging	0.46
R1710:Atp6v1b1	UTSW	6	83758390	missense	probably benign
R1722:Atp6v1b1	UTSW	6	83743092	missense	possibly damaging	0.68
R1862:Atp6v1b1	UTSW	6	83749852	critical splice acceptor site	probably null
R2086:Atp6v1b1	UTSW	6	83757852	missense	probably benign	0.10
R3433:Atp6v1b1	UTSW	6	83743092	missense	possibly damaging	0.81
R4193:Atp6v1b1	UTSW	6	83743103	missense	probably benign	0.01
R5901:Atp6v1b1	UTSW	6	83758357	missense	possibly damaging	0.87
R6156:Atp6v1b1	UTSW	6	83758133	missense	probably damaging	1.00
R6187:Atp6v1b1	UTSW	6	83752395	missense	probably damaging	1.00
R6717:Atp6v1b1	UTSW	6	83753650	splice site	probably null
R6727:Atp6v1b1	UTSW	6	83751875	unclassified	probably benign
R6952:Atp6v1b1	UTSW	6	83754810	missense	probably damaging	1.00
R7753:Atp6v1b1	UTSW	6	83752458	missense	probably benign	0.02
R7852:Atp6v1b1	UTSW	6	83752470	missense	possibly damaging	0.47
R8421:Atp6v1b1	UTSW	6	83753809	missense	probably damaging	0.99
R8840:Atp6v1b1	UTSW	6	83756863	missense

Predicted Primers

PCR Primer
(F):5'- ATCTTACAAGCCTTGGAGGGAAG -3'
(R):5'- GAAGTGCTTAGCCATCCCTTTC -3'

Sequencing Primer
(F):5'- TATGTCCCAGAGAACACCCTG -3'
(R):5'- TCAACCTGCACCTGTAATGACTTAG -3'

Posted On

2015-09-25