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

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

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

83719999-83735837 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 83733903 bp (GRCm39)

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: 122,594,970 (GRCm39)		probably benign	Het
Abcc2	G	A	19: 43,810,044 (GRCm39)		probably benign	Het
Abcc8	C	G	7: 45,771,597 (GRCm39)	G838A	probably damaging	Het
Akr1c21	G	A	13: 4,631,199 (GRCm39)	A245T	probably damaging	Het
Anapc15-ps	T	C	10: 95,509,139 (GRCm39)	E47G	probably damaging	Het
Apoa1	A	G	9: 46,141,140 (GRCm39)	T79A	probably benign	Het
C4b	A	G	17: 34,954,588 (GRCm39)		probably benign	Het
Catsperd	A	T	17: 56,969,821 (GRCm39)	E638D	probably benign	Het
Cckar	C	T	5: 53,863,595 (GRCm39)		probably null	Het
Cfap100	C	T	6: 90,382,321 (GRCm39)		probably benign	Het
Chd1	G	T	17: 15,970,156 (GRCm39)	G970C	probably damaging	Het
Col14a1	A	G	15: 55,309,655 (GRCm39)		probably benign	Het
Col17a1	C	T	19: 47,652,263 (GRCm39)	V698M	probably damaging	Het
Cpeb1	T	C	7: 81,011,473 (GRCm39)	D156G	possibly damaging	Het
Cryl1	A	G	14: 57,541,232 (GRCm39)	Y151H	possibly damaging	Het
Csmd3	C	A	15: 47,520,969 (GRCm39)	V1881L	probably damaging	Het
Ctnnal1	C	T	4: 56,847,921 (GRCm39)	A73T	probably damaging	Het
Cyp2c37	T	C	19: 39,982,950 (GRCm39)	S180P	probably damaging	Het
Cyp2c54	T	C	19: 40,060,613 (GRCm39)	T123A	possibly damaging	Het
Dennd6b	T	C	15: 89,071,417 (GRCm39)	D304G	probably damaging	Het
Dnmt3l	T	C	10: 77,887,750 (GRCm39)		probably benign	Het
Eci1	G	A	17: 24,652,234 (GRCm39)		probably null	Het
Efhc1	A	G	1: 21,030,412 (GRCm39)	Y115C	probably damaging	Het
Ern1	T	A	11: 106,298,004 (GRCm39)	K706*	probably null	Het
Ghrl	T	C	6: 113,696,299 (GRCm39)	E31G	probably damaging	Het
Gpr108	A	C	17: 57,550,101 (GRCm39)	V179G	probably benign	Het
Henmt1	A	G	3: 108,865,851 (GRCm39)		probably benign	Het
Ift172	A	G	5: 31,444,011 (GRCm39)	V69A	probably damaging	Het
Il17ra	T	C	6: 120,453,940 (GRCm39)		probably benign	Het
Il17rb	T	C	14: 29,726,304 (GRCm39)	N95D	probably benign	Het
Il17rb	G	T	14: 29,728,112 (GRCm39)		probably null	Het
Iqub	G	A	6: 24,446,154 (GRCm39)	L757F	probably benign	Het
Itpr1	T	C	6: 108,355,128 (GRCm39)	V473A	probably benign	Het
Itpr2	T	G	6: 146,131,271 (GRCm39)	N1978H	probably damaging	Het
Klk1b26	T	A	7: 43,662,151 (GRCm39)	F3Y	probably damaging	Het
Lars1	A	G	18: 42,384,428 (GRCm39)	V50A	probably benign	Het
Lax1	G	T	1: 133,607,804 (GRCm39)	H312Q	probably benign	Het
Lctl	T	C	9: 64,029,596 (GRCm39)		probably benign	Het
Lrp2	T	A	2: 69,287,202 (GRCm39)	D3745V	probably damaging	Het
Lrp2	G	A	2: 69,290,681 (GRCm39)		probably benign	Het
Lvrn	A	T	18: 46,983,533 (GRCm39)	H92L	probably benign	Het
Marchf1	A	G	8: 66,871,625 (GRCm39)	T385A	probably damaging	Het
Marf1	C	T	16: 13,960,398 (GRCm39)	A549T	probably damaging	Het
Mbd5	T	C	2: 49,162,428 (GRCm39)	V970A	possibly damaging	Het
Mccc1	A	G	3: 36,017,719 (GRCm39)		probably benign	Het
Mpp4	A	T	1: 59,182,988 (GRCm39)		probably benign	Het
Mrnip	G	A	11: 50,090,747 (GRCm39)	A304T	probably damaging	Het
Muc5b	T	C	7: 141,418,819 (GRCm39)	S3922P	possibly damaging	Het
Myh3	T	A	11: 66,987,333 (GRCm39)		probably benign	Het
Nbea	A	T	3: 55,944,698 (GRCm39)	H555Q	probably damaging	Het
Niban3	T	A	8: 72,055,143 (GRCm39)		probably benign	Het
Nlrp9c	A	T	7: 26,070,901 (GRCm39)		probably benign	Het
Nmur1	A	T	1: 86,315,400 (GRCm39)	V178E	probably damaging	Het
Nod2	T	G	8: 89,390,406 (GRCm39)	S238A	probably benign	Het
Ogfod1	A	T	8: 94,789,651 (GRCm39)	T451S	probably damaging	Het
Or1e17	T	C	11: 73,831,935 (GRCm39)	F288L	probably damaging	Het
Or2d36	T	A	7: 106,747,394 (GRCm39)	Y290*	probably null	Het
Or2z8	C	T	8: 72,812,244 (GRCm39)	T240M	probably damaging	Het
Or8b8	G	A	9: 37,809,138 (GRCm39)	G146D	probably benign	Het
Pcdh20	T	C	14: 88,706,104 (GRCm39)	I399V	probably benign	Het
Pdlim1	G	T	19: 40,232,017 (GRCm39)	H120Q	probably damaging	Het
Plg	T	C	17: 12,637,968 (GRCm39)	V798A	probably damaging	Het
Polr2c	A	G	8: 95,584,403 (GRCm39)	I39V	possibly damaging	Het
Ppfia2	C	A	10: 106,666,575 (GRCm39)		probably benign	Het
Ppp1r3a	A	T	6: 14,719,696 (GRCm39)	I406N	probably benign	Het
Psg28	A	T	7: 18,160,098 (GRCm39)	M366K	probably benign	Het
Rad54b	T	C	4: 11,601,702 (GRCm39)	I419T	probably damaging	Het
Rnf43	A	G	11: 87,622,108 (GRCm39)	Q403R	possibly damaging	Het
Sema6a	G	A	18: 47,423,112 (GRCm39)		probably null	Het
Slc28a3	A	G	13: 58,717,229 (GRCm39)		probably benign	Het
Smad2	A	T	18: 76,422,108 (GRCm39)		probably null	Het
Smad4	G	A	18: 73,791,720 (GRCm39)	P274S	probably benign	Het
Smchd1	A	T	17: 71,710,149 (GRCm39)	V906D	probably damaging	Het
Soat2	C	A	15: 102,067,188 (GRCm39)	R320S	possibly damaging	Het
Spata33	C	T	8: 123,948,626 (GRCm39)	A57V	probably damaging	Het
Stab1	A	G	14: 30,865,375 (GRCm39)	L1814P	probably benign	Het
Stab2	T	C	10: 86,783,008 (GRCm39)	K680R	probably benign	Het
Stil	A	G	4: 114,898,369 (GRCm39)		probably null	Het
Sympk	T	A	7: 18,780,774 (GRCm39)	L759H	probably benign	Het
Tet1	A	T	10: 62,650,325 (GRCm39)		probably null	Het
Tfpi2	A	T	6: 3,965,460 (GRCm39)	N117K	probably benign	Het
Tle3	A	G	9: 61,323,943 (GRCm39)	Y766C	probably damaging	Het
Trpt1	C	A	19: 6,975,298 (GRCm39)		probably null	Het
Tshz1	A	G	18: 84,034,174 (GRCm39)	F78S	possibly damaging	Het
Ttc1	T	C	11: 43,629,635 (GRCm39)	D177G	probably damaging	Het
Ttc13	T	A	8: 125,401,140 (GRCm39)	Y741F	probably damaging	Het
Ulk3	C	T	9: 57,502,115 (GRCm39)	S462L	probably benign	Het
Utrn	C	T	10: 12,401,077 (GRCm39)		probably benign	Het
V1rd19	A	C	7: 23,703,010 (GRCm39)	T159P	probably damaging	Het
Vars1	T	C	17: 35,230,462 (GRCm39)	V515A	possibly damaging	Het
Vmn1r85	A	G	7: 12,818,515 (GRCm39)	Y210H	probably benign	Het
Vmn2r89	A	G	14: 51,693,435 (GRCm39)	T262A	probably damaging	Het
Vps53	G	A	11: 76,012,405 (GRCm39)	T209I	probably benign	Het
Wdfy2	T	C	14: 63,162,582 (GRCm39)	F95L	possibly damaging	Het
Wwp1	G	T	4: 19,627,911 (GRCm39)	S694Y	probably damaging	Het
Zbtb8b	T	A	4: 129,326,463 (GRCm39)	D201V	probably damaging	Het
Zmym5	A	C	14: 57,041,908 (GRCm39)	N123K	possibly 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
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
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'- CCATGCCTAATGATGGTAGCCCC -3'
(R):5'- CTAGCTGTGAAGCACAGGCTCC -3'

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

Posted On

2013-04-24