Mutagenetix > Incidental Mutation

Incidental Mutation 'R0391:Atp6v1b1'

31679

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

038597-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0391 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

83742990-83758855 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 83756921 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 378 (H378R)

Ref Sequence

ENSEMBL: ENSMUSP00000006431 (fasta)

Gene Model

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

AlphaFold

Q91YH6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000006431
AA Change: H378R

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000006431
Gene: ENSMUSG00000006269
AA Change: H378R

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

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

noncoding transcript
Transcript: ENSMUST00000206652

Meta Mutation Damage Score

0.4888

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.8%

Validation Efficiency

97% (97/100)

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530002B09Rik	T	A	4: 122,701,177		probably benign	Het
Abcc2	G	A	19: 43,821,605		probably benign	Het
Abcc8	C	G	7: 46,122,173	G838A	probably damaging	Het
Akr1c21	G	A	13: 4,581,200	A245T	probably damaging	Het
Anapc15-ps	T	C	10: 95,673,277	E47G	probably damaging	Het
Apoa1	A	G	9: 46,229,842	T79A	probably benign	Het
C4b	A	G	17: 34,735,614		probably benign	Het
Catsperd	A	T	17: 56,662,821	E638D	probably benign	Het
Cckar	C	T	5: 53,706,253		probably null	Het
Cfap100	C	T	6: 90,405,339		probably benign	Het
Chd1	G	T	17: 15,749,894	G970C	probably damaging	Het
Col14a1	A	G	15: 55,446,259		probably benign	Het
Col17a1	C	T	19: 47,663,824	V698M	probably damaging	Het
Cpeb1	T	C	7: 81,361,725	D156G	possibly damaging	Het
Cryl1	A	G	14: 57,303,775	Y151H	possibly damaging	Het
Csmd3	C	A	15: 47,657,573	V1881L	probably damaging	Het
Ctnnal1	C	T	4: 56,847,921	A73T	probably damaging	Het
Cyp2c37	T	C	19: 39,994,506	S180P	probably damaging	Het
Cyp2c54	T	C	19: 40,072,169	T123A	possibly damaging	Het
Dennd6b	T	C	15: 89,187,214	D304G	probably damaging	Het
Dnmt3l	T	C	10: 78,051,916		probably benign	Het
Eci1	G	A	17: 24,433,260		probably null	Het
Efhc1	A	G	1: 20,960,188	Y115C	probably damaging	Het
Ern1	T	A	11: 106,407,178	K706*	probably null	Het
Fam129c	T	A	8: 71,602,499		probably benign	Het
Ghrl	T	C	6: 113,719,338	E31G	probably damaging	Het
Gpr108	A	C	17: 57,243,101	V179G	probably benign	Het
Henmt1	A	G	3: 108,958,535		probably benign	Het
Ift172	A	G	5: 31,286,667	V69A	probably damaging	Het
Il17ra	T	C	6: 120,476,979		probably benign	Het
Il17rb	T	C	14: 30,004,347	N95D	probably benign	Het
Il17rb	G	T	14: 30,006,155		probably null	Het
Iqub	G	A	6: 24,446,155	L757F	probably benign	Het
Itpr1	T	C	6: 108,378,167	V473A	probably benign	Het
Itpr2	T	G	6: 146,229,773	N1978H	probably damaging	Het
Klk1b26	T	A	7: 44,012,727	F3Y	probably damaging	Het
Lars	A	G	18: 42,251,363	V50A	probably benign	Het
Lax1	G	T	1: 133,680,066	H312Q	probably benign	Het
Lctl	T	C	9: 64,122,314		probably benign	Het
Lrp2	T	A	2: 69,456,858	D3745V	probably damaging	Het
Lrp2	G	A	2: 69,460,337		probably benign	Het
Lvrn	A	T	18: 46,850,466	H92L	probably benign	Het
March1	A	G	8: 66,418,973	T385A	probably damaging	Het
Marf1	C	T	16: 14,142,534	A549T	probably damaging	Het
Mbd5	T	C	2: 49,272,416	V970A	possibly damaging	Het
Mccc1	A	G	3: 35,963,570		probably benign	Het
Mpp4	A	T	1: 59,143,829		probably benign	Het
Mrnip	G	A	11: 50,199,920	A304T	probably damaging	Het
Muc5b	T	C	7: 141,865,082	S3922P	possibly damaging	Het
Myh3	T	A	11: 67,096,507		probably benign	Het
Nbea	A	T	3: 56,037,277	H555Q	probably damaging	Het
Nlrp9c	A	T	7: 26,371,476		probably benign	Het
Nmur1	A	T	1: 86,387,678	V178E	probably damaging	Het
Nod2	T	G	8: 88,663,778	S238A	probably benign	Het
Ogfod1	A	T	8: 94,063,023	T451S	probably damaging	Het
Olfr145	G	A	9: 37,897,842	G146D	probably benign	Het
Olfr23	T	C	11: 73,941,109	F288L	probably damaging	Het
Olfr372	C	T	8: 72,058,400	T240M	probably damaging	Het
Olfr716	T	A	7: 107,148,187	Y290*	probably null	Het
Pcdh20	T	C	14: 88,468,668	I399V	probably benign	Het
Pdlim1	G	T	19: 40,243,573	H120Q	probably damaging	Het
Plg	T	C	17: 12,419,081	V798A	probably damaging	Het
Polr2c	A	G	8: 94,857,775	I39V	possibly damaging	Het
Ppfia2	C	A	10: 106,830,714		probably benign	Het
Ppp1r3a	A	T	6: 14,719,697	I406N	probably benign	Het
Psg28	A	T	7: 18,426,173	M366K	probably benign	Het
Rad54b	T	C	4: 11,601,702	I419T	probably damaging	Het
Rnf43	A	G	11: 87,731,282	Q403R	possibly damaging	Het
Sema6a	G	A	18: 47,290,045		probably null	Het
Slc28a3	A	G	13: 58,569,415		probably benign	Het
Smad2	A	T	18: 76,289,037		probably null	Het
Smad4	G	A	18: 73,658,649	P274S	probably benign	Het
Smchd1	A	T	17: 71,403,154	V906D	probably damaging	Het
Soat2	C	A	15: 102,158,753	R320S	possibly damaging	Het
Spata33	C	T	8: 123,221,887	A57V	probably damaging	Het
Stab1	A	G	14: 31,143,418	L1814P	probably benign	Het
Stab2	T	C	10: 86,947,144	K680R	probably benign	Het
Stil	A	G	4: 115,041,172		probably null	Het
Sympk	T	A	7: 19,046,849	L759H	probably benign	Het
Tet1	A	T	10: 62,814,546		probably null	Het
Tfpi2	A	T	6: 3,965,460	N117K	probably benign	Het
Tle3	A	G	9: 61,416,661	Y766C	probably damaging	Het
Trpt1	C	A	19: 6,997,930		probably null	Het
Tshz1	A	G	18: 84,016,049	F78S	possibly damaging	Het
Ttc1	T	C	11: 43,738,808	D177G	probably damaging	Het
Ttc13	T	A	8: 124,674,401	Y741F	probably damaging	Het
Ulk3	C	T	9: 57,594,832	S462L	probably benign	Het
Utrn	C	T	10: 12,525,333		probably benign	Het
V1rd19	A	C	7: 24,003,585	T159P	probably damaging	Het
Vars	T	C	17: 35,011,486	V515A	possibly damaging	Het
Vmn1r85	A	G	7: 13,084,588	Y210H	probably benign	Het
Vmn2r89	A	G	14: 51,455,978	T262A	probably damaging	Het
Vps53	G	A	11: 76,121,579	T209I	probably benign	Het
Wdfy2	T	C	14: 62,925,133	F95L	possibly damaging	Het
Wwp1	G	T	4: 19,627,911	S694Y	probably damaging	Het
Zbtb8b	T	A	4: 129,432,670	D201V	probably damaging	Het
Zmym5	A	C	14: 56,804,451	N123K	possibly damaging	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
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
R4606:Atp6v1b1	UTSW	6	83752461	missense	probably damaging	1.00
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'- CCATGCCTAATGATGGTAGCCCC -3'
(R):5'- CTAGCTGTGAAGCACAGGCTCC -3'

Sequencing Primer
(F):5'- TGATGGTAGCCCCCCACC -3'
(R):5'- TTTAACTTTGGGCTGGCCTC -3'

Posted On

2013-04-24