Mutagenetix > Incidental Mutation

Incidental Mutation 'R4193:Atp6v1b1'

318406

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

041024-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4193 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

83719999-83735837 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 83720085 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 7 (S7G)

Ref Sequence

ENSEMBL: ENSMUSP00000146154 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006431] [ENSMUST00000037807] [ENSMUST00000205763] [ENSMUST00000206911]

AlphaFold

Q91YH6

Predicted Effect

probably benign
Transcript: ENSMUST00000006431
AA Change: S7G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000006431
Gene: ENSMUSG00000006269
AA Change: S7G

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: ENSMUST00000037807

SMART Domains

Protein: ENSMUSP00000035976
Gene: ENSMUSG00000034777

Domain	Start	End	E-Value	Type
low complexity region	7	32	N/A	INTRINSIC
HOX	102	164	3.54e-27	SMART
low complexity region	169	180	N/A	INTRINSIC
low complexity region	197	213	N/A	INTRINSIC
low complexity region	233	247	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000205763
AA Change: S4G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205867

Predicted Effect

probably benign
Transcript: ENSMUST00000206911
AA Change: S7G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

Coding Region Coverage

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

Validation Efficiency

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
4930474N05Rik	G	T	14: 35,818,536 (GRCm39)	R178L	possibly damaging	Het
Abcb1a	G	A	5: 8,765,068 (GRCm39)		probably null	Het
Acap3	A	G	4: 155,986,234 (GRCm39)	T285A	probably benign	Het
Adam20	A	T	8: 41,248,352 (GRCm39)	N154I	probably damaging	Het
Adamts8	A	T	9: 30,870,604 (GRCm39)	D693V	probably damaging	Het
Ak9	A	G	10: 41,211,941 (GRCm39)	H226R	probably benign	Het
Atxn7l3b	C	A	10: 112,764,610 (GRCm39)	L6F	probably damaging	Het
Bco1	C	T	8: 117,840,208 (GRCm39)	T242M	probably damaging	Het
Btla	A	G	16: 45,070,845 (GRCm39)	N268S	probably benign	Het
Capn9	A	G	8: 125,327,225 (GRCm39)	S292G	probably null	Het
Cdhr18	C	T	14: 13,914,416 (GRCm38)	V9I	probably benign	Het
Col7a1	G	A	9: 108,785,740 (GRCm39)	S403N	unknown	Het
Ctps1	A	G	4: 120,405,335 (GRCm39)	V369A	probably damaging	Het
Ddx19b	A	T	8: 111,737,980 (GRCm39)	L256Q	probably damaging	Het
Dnah7a	T	C	1: 53,486,493 (GRCm39)	K3356R	probably benign	Het
Dpf2	G	A	19: 5,957,044 (GRCm39)	R60*	probably null	Het
Eif3h	A	T	15: 51,662,695 (GRCm39)	V117E	probably damaging	Het
Fam234a	A	T	17: 26,432,834 (GRCm39)	L467Q	probably damaging	Het
Fez1	T	A	9: 36,755,023 (GRCm39)	S7R	probably damaging	Het
Fh1	T	A	1: 175,442,407 (GRCm39)	M148L	possibly damaging	Het
Gabra2	G	A	5: 71,165,341 (GRCm39)	P210S	probably benign	Het
Gfm1	T	G	3: 67,339,053 (GRCm39)	I52S	probably damaging	Het
Gm6729	A	T	10: 86,376,483 (GRCm39)		noncoding transcript	Het
Gpr152	T	G	19: 4,192,906 (GRCm39)	L149R	probably damaging	Het
H2bc27	T	A	11: 58,840,067 (GRCm39)	L101Q	probably damaging	Het
Ifnar2	A	T	16: 91,201,232 (GRCm39)	D491V	probably damaging	Het
Igkv14-126	T	C	6: 67,873,367 (GRCm39)	S32P	possibly damaging	Het
Il1rl2	A	G	1: 40,404,208 (GRCm39)	E443G	probably damaging	Het
Impg2	A	G	16: 56,088,774 (GRCm39)	D1100G	probably benign	Het
Itga2	G	A	13: 115,023,185 (GRCm39)	R56*	probably null	Het
Itga2b	A	G	11: 102,360,511 (GRCm39)	S10P	probably benign	Het
Jmjd1c	C	T	10: 66,932,460 (GRCm39)		probably benign	Het
Kdm7a	T	G	6: 39,146,030 (GRCm39)	K299T	probably damaging	Het
Large2	T	A	2: 92,195,704 (GRCm39)	D632V	probably damaging	Het
Lrp2	C	T	2: 69,297,487 (GRCm39)	C3158Y	probably damaging	Het
Malt1	T	A	18: 65,580,746 (GRCm39)	D213E	probably benign	Het
Nkapl	T	C	13: 21,651,512 (GRCm39)	Q367R	probably benign	Het
Nwd2	T	C	5: 63,964,808 (GRCm39)	L1464P	probably damaging	Het
Or1e25	C	G	11: 73,494,243 (GRCm39)	T279R	probably damaging	Het
Or2y1	A	C	11: 49,386,134 (GRCm39)	Y258S	probably damaging	Het
Or7a40	A	T	16: 16,491,511 (GRCm39)	D111E	possibly damaging	Het
Or8u10	T	A	2: 85,916,044 (GRCm39)	I26F	probably benign	Het
Or9g20	C	T	2: 85,630,362 (GRCm39)	C84Y	probably benign	Het
P2ry2	A	G	7: 100,647,657 (GRCm39)	V216A	probably benign	Het
Pcdhb1	A	G	18: 37,400,199 (GRCm39)	K717E	probably damaging	Het
Pcdhgb8	G	C	18: 37,896,594 (GRCm39)	D555H	probably damaging	Het
Pcsk6	T	C	7: 65,675,056 (GRCm39)	S476P	probably damaging	Het
Phactr3	T	A	2: 177,924,945 (GRCm39)	H293Q	probably damaging	Het
Pias1	T	C	9: 62,859,286 (GRCm39)	D74G	possibly damaging	Het
Plekhg6	T	C	6: 125,350,081 (GRCm39)	T286A	probably benign	Het
Pramel23	A	T	4: 143,424,903 (GRCm39)	L180Q	probably damaging	Het
Prkag2	A	C	5: 25,083,758 (GRCm39)	M75R	probably damaging	Het
Prl7c1	T	A	13: 27,960,261 (GRCm39)	M94L	probably benign	Het
Prodh	C	T	16: 17,891,504 (GRCm39)	V480I	probably benign	Het
Ptprn2	A	G	12: 116,864,628 (GRCm39)	I548V	probably benign	Het
Ptprr	T	C	10: 116,088,769 (GRCm39)	W307R	probably damaging	Het
Rab29	T	C	1: 131,797,700 (GRCm39)	S52P	possibly damaging	Het
Ralgapa2	A	G	2: 146,184,493 (GRCm39)	F1505L	probably damaging	Het
Scn8a	C	T	15: 100,869,484 (GRCm39)	A209V	probably damaging	Het
Senp2	G	T	16: 21,865,417 (GRCm39)	W580L	probably damaging	Het
Septin4	A	T	11: 87,474,142 (GRCm39)		probably null	Het
Slc17a5	C	A	9: 78,466,388 (GRCm39)	V269L	possibly damaging	Het
Slc2a9	T	C	5: 38,556,049 (GRCm39)	N299S	probably damaging	Het
Slc41a2	T	A	10: 83,137,085 (GRCm39)	H274L	probably damaging	Het
Suco	A	T	1: 161,691,528 (GRCm39)	D43E	probably benign	Het
Tacr2	T	A	10: 62,088,958 (GRCm39)	I121N	probably damaging	Het
Tanc2	G	A	11: 105,804,888 (GRCm39)		probably benign	Het
Tbl1xr1	T	C	3: 22,254,522 (GRCm39)	F322L	possibly damaging	Het
Tdrd1	T	A	19: 56,839,773 (GRCm39)	L611*	probably null	Het
Tgfbr2	T	C	9: 115,939,009 (GRCm39)	T298A	probably damaging	Het
Tmprss12	T	C	15: 100,187,185 (GRCm39)	V217A	probably damaging	Het
Ttbk1	A	T	17: 46,790,173 (GRCm39)	C91S	probably damaging	Het
Vit	A	G	17: 78,894,255 (GRCm39)	H219R	probably benign	Het
Vmn1r71	A	T	7: 10,482,175 (GRCm39)	I105K	possibly damaging	Het
Vmn2r57	A	G	7: 41,077,663 (GRCm39)	F168L	probably benign	Het
Zfp945	C	T	17: 23,070,144 (GRCm39)		probably benign	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
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
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'- TGTTTACAGTCAACCTGGCAG -3'
(R):5'- TGTGCAGGCTTTACATAGAGG -3'

Sequencing Primer
(F):5'- TTTACAGTCAACCTGGCAGAGGAG -3'
(R):5'- TGCAGGCTTTACATAGAGGTGATAC -3'

Posted On

2015-06-10