Mutagenetix > Incidental Mutation

Incidental Mutation 'R2086:Atp6v1b1'

229988

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

040091-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2086 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

83719999-83735837 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 83734834 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 382 (V382A)

Ref Sequence

ENSEMBL: ENSMUSP00000006431 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006431] [ENSMUST00000014891] [ENSMUST00000205763] [ENSMUST00000206496]

AlphaFold

Q91YH6

Predicted Effect

probably benign
Transcript: ENSMUST00000006431
AA Change: V382A

PolyPhen 2 Score 0.102 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000006431
Gene: ENSMUSG00000006269
AA Change: V382A

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 benign
Transcript: ENSMUST00000014891

SMART Domains

Protein: ENSMUSP00000014891
Gene: ENSMUSG00000014747

Domain	Start	End	E-Value	Type
low complexity region	12	27	N/A	INTRINSIC
ANK	110	140	1.15e0	SMART
ANK	144	177	1.63e0	SMART
ANK	181	210	1.78e-6	SMART
Blast:ANK	215	243	6e-12	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189129

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189308

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190077

Predicted Effect

probably benign
Transcript: ENSMUST00000205763

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206052

Predicted Effect

probably benign
Transcript: ENSMUST00000206496

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206652

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

99% (80/81)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930533L02Rik	T	C	7: 124,917,767 (GRCm39)	M53T	unknown	Het
Abcb11	T	A	2: 69,089,820 (GRCm39)		probably benign	Het
Acap2	C	G	16: 30,929,763 (GRCm39)	A432P	probably damaging	Het
Adamtsl1	A	G	4: 86,146,249 (GRCm39)	R302G	probably damaging	Het
Aoc1l1	A	G	6: 48,954,536 (GRCm39)	E558G	probably damaging	Het
Ap2b1	T	G	11: 83,241,944 (GRCm39)	S608A	possibly damaging	Het
Atp13a3	T	A	16: 30,171,116 (GRCm39)	T310S	possibly damaging	Het
Atp6v1g1	T	A	4: 63,468,304 (GRCm39)	F102L	probably benign	Het
B430306N03Rik	T	A	17: 48,623,810 (GRCm39)	V37D	probably damaging	Het
Cacna1d	T	C	14: 29,769,314 (GRCm39)	Y1872C	possibly damaging	Het
Carf	T	A	1: 60,148,570 (GRCm39)	Y54N	probably damaging	Het
Cct5	T	C	15: 31,594,349 (GRCm39)	E256G	probably damaging	Het
Cd5	A	G	19: 10,700,620 (GRCm39)	S295P	probably benign	Het
Cenpb	T	C	2: 131,020,517 (GRCm39)		probably benign	Het
Cntnap3	A	G	13: 64,942,076 (GRCm39)	M218T	possibly damaging	Het
Colec11	C	T	12: 28,644,786 (GRCm39)	R236H	probably damaging	Het
Crem	T	A	18: 3,288,098 (GRCm39)		probably benign	Het
Csnk2a1	A	G	2: 152,096,201 (GRCm39)	N58S	probably benign	Het
Cyp2a4	T	G	7: 26,011,733 (GRCm39)	M318R	probably damaging	Het
Dhrs1	T	A	14: 55,981,116 (GRCm39)	Q98L	probably null	Het
Dnah11	G	T	12: 118,077,606 (GRCm39)	Q1296K	possibly damaging	Het
Edc4	T	A	8: 106,614,634 (GRCm39)	D105E	probably damaging	Het
Eid2b	C	T	7: 27,977,198 (GRCm39)		probably benign	Het
Exoc1	A	T	5: 76,680,693 (GRCm39)	K28*	probably null	Het
Fam114a1	A	G	5: 65,137,402 (GRCm39)	D115G	probably benign	Het
Fam151a	A	T	4: 106,592,760 (GRCm39)		probably null	Het
Gc	T	C	5: 89,586,201 (GRCm39)	Y313C	probably damaging	Het
Gdpd1	A	G	11: 86,926,094 (GRCm39)	Y284H	probably benign	Het
Gm21957	T	A	7: 124,818,878 (GRCm39)		noncoding transcript	Het
Golm1	G	A	13: 59,792,999 (GRCm39)	Q169*	probably null	Het
Greb1l	T	C	18: 10,523,281 (GRCm39)	V813A	probably damaging	Het
Itih1	C	T	14: 30,659,800 (GRCm39)	A279T	probably damaging	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Lama1	T	C	17: 68,124,618 (GRCm39)	C2893R	probably damaging	Het
Lama3	T	A	18: 12,657,887 (GRCm39)	N334K	probably benign	Het
Loxhd1	A	G	18: 77,472,642 (GRCm39)	D1053G	probably damaging	Het
Map3k20	A	G	2: 72,228,729 (GRCm39)	K316R	probably benign	Het
Mapre3	A	C	5: 31,020,546 (GRCm39)		probably null	Het
Mgam	T	A	6: 40,737,962 (GRCm39)		probably null	Het
Mical2	A	C	7: 111,917,810 (GRCm39)	H389P	probably benign	Het
Mtmr2	A	G	9: 13,711,248 (GRCm39)	D347G	probably damaging	Het
Nbeal2	G	A	9: 110,463,139 (GRCm39)	L1309F	probably benign	Het
Nid2	G	A	14: 19,828,111 (GRCm39)	G516S	probably benign	Het
Nodal	A	T	10: 61,259,077 (GRCm39)	E171D	possibly damaging	Het
Notch2	T	C	3: 98,009,683 (GRCm39)	S537P	probably damaging	Het
Obox6	A	G	7: 15,567,532 (GRCm39)	L305S	probably damaging	Het
Obscn	T	C	11: 58,969,082 (GRCm39)	D2715G	probably damaging	Het
Or4k1	T	A	14: 50,377,580 (GRCm39)	N172I	probably damaging	Het
Or5g26	A	C	2: 85,494,090 (GRCm39)	S229R	probably benign	Het
Pcca	T	C	14: 122,923,527 (GRCm39)	S404P	probably damaging	Het
Pcdh10	T	C	3: 45,334,906 (GRCm39)	S407P	probably damaging	Het
Plekha5	C	A	6: 140,516,044 (GRCm39)		probably null	Het
Ptdss1	A	G	13: 67,101,619 (GRCm39)	N72S	probably benign	Het
Ptprs	T	C	17: 56,761,984 (GRCm39)	I43V	probably null	Het
Pygm	G	A	19: 6,441,511 (GRCm39)		probably null	Het
Rab7	C	T	6: 87,989,300 (GRCm39)	V57I	probably benign	Het
Rasl10a	A	G	11: 5,009,431 (GRCm39)		probably null	Het
Rergl	T	C	6: 139,471,832 (GRCm39)	T106A	probably benign	Het
Rnf17	T	G	14: 56,720,837 (GRCm39)	V1023G	probably damaging	Het
Rnf25	T	A	1: 74,633,126 (GRCm39)	R409W	probably damaging	Het
Rps6ka1	T	C	4: 133,600,280 (GRCm39)	M1V	probably null	Het
Rps6ka5	T	C	12: 100,585,874 (GRCm39)	T140A	possibly damaging	Het
Sbno2	T	A	10: 79,893,690 (GRCm39)	I1204F	possibly damaging	Het
Serpina16	A	T	12: 103,641,521 (GRCm39)	I68N	probably damaging	Het
Slc35a5	A	G	16: 44,964,628 (GRCm39)	S202P	probably damaging	Het
Slc35g3	G	C	11: 69,651,772 (GRCm39)	S93W	probably damaging	Het
Slc49a3	C	T	5: 108,593,487 (GRCm39)	R117H	probably damaging	Het
Smc1b	A	G	15: 85,006,052 (GRCm39)		probably benign	Het
Spag1	T	C	15: 36,227,287 (GRCm39)	L648P	probably damaging	Het
Tagap1	T	C	17: 7,224,102 (GRCm39)	D198G	probably benign	Het
Tedc2	T	C	17: 24,436,874 (GRCm39)	E287G	probably damaging	Het
Tjp1	C	A	7: 64,962,669 (GRCm39)	R1089S	probably damaging	Het
Tnrc6a	CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT	CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT	7: 122,761,669 (GRCm39)		probably benign	Het
Ttc38	T	A	15: 85,722,928 (GRCm39)	D125E	probably benign	Het
Uggt1	C	T	1: 36,231,495 (GRCm39)	R490Q	probably null	Het
Uroc1	T	G	6: 90,321,096 (GRCm39)	L224R	probably damaging	Het
Vmn1r228	A	T	17: 20,997,455 (GRCm39)	I21N	possibly damaging	Het
Vmn2r102	T	G	17: 19,896,949 (GRCm39)	L99V	probably damaging	Het
Vps13c	C	T	9: 67,857,571 (GRCm39)	S2601F	probably benign	Het
Zfp462	T	C	4: 55,010,830 (GRCm39)	L932P	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
R0458:Atp6v1b1	UTSW	6	83,729,390 (GRCm39)	missense	probably damaging	1.00
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
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'- AAGCTTCAACTTGTTTGTGCTG -3'
(R):5'- GGAACTTCTTGTCCAGGTGG -3'

Sequencing Primer
(F):5'- GCTTCAACTTGTTTGTGCTGATAATC -3'
(R):5'- CAGGTGGGGCTCAGAACTTG -3'

Posted On

2014-09-18