Mutagenetix > Incidental Mutation

Incidental Mutation 'R6187:Atp6v1b1'

502230

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

044327-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6187 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

83719999-83735837 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 83729377 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 105 (T105S)

Ref Sequence

ENSEMBL: ENSMUSP00000145710 (fasta)

Gene Model

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

AlphaFold

Q91YH6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000006431
AA Change: T96S

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000006431
Gene: ENSMUSG00000006269
AA Change: T96S

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: T105S

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

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

0.6465

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

99% (79/80)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,259,085 (GRCm39)	L2937H	probably damaging	Het
Abca3	A	G	17: 24,627,141 (GRCm39)	I1281V	possibly damaging	Het
Adam2	A	T	14: 66,306,068 (GRCm39)	S138T	possibly damaging	Het
Adamts4	C	T	1: 171,078,562 (GRCm39)	P61S	probably damaging	Het
Adamts6	C	T	13: 104,433,933 (GRCm39)	P121S	probably damaging	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Ak1	G	A	2: 32,523,489 (GRCm39)	V186M	probably damaging	Het
Alpk1	T	C	3: 127,466,991 (GRCm39)	Y1096C	probably damaging	Het
Ankrd29	A	C	18: 12,412,747 (GRCm39)	Y73*	probably null	Het
Asah2	A	T	19: 32,002,267 (GRCm39)	S292R	probably damaging	Het
Axdnd1	T	A	1: 156,193,182 (GRCm39)		probably null	Het
Bub1b	T	G	2: 118,461,481 (GRCm39)	S678A	probably damaging	Het
Cdcp3	G	A	7: 130,872,328 (GRCm39)		probably benign	Het
Cenpq	T	A	17: 41,238,089 (GRCm39)	M142L	probably benign	Het
Ciz1	T	A	2: 32,260,063 (GRCm39)	V203E	possibly damaging	Het
Cmklr2	T	C	1: 63,222,434 (GRCm39)	E267G	probably damaging	Het
Col2a1	G	T	15: 97,886,671 (GRCm39)	T378N	unknown	Het
Cyp2c68	A	T	19: 39,729,452 (GRCm39)	S12T	probably benign	Het
Cyp4f18	C	A	8: 72,747,030 (GRCm39)	A322S	probably damaging	Het
Disp2	A	G	2: 118,622,624 (GRCm39)	S1119G	probably damaging	Het
Eif2ak4	C	T	2: 118,287,638 (GRCm39)	T1081M	probably damaging	Het
Faxc	A	G	4: 21,958,445 (GRCm39)	T201A	possibly damaging	Het
Fbxw14	A	G	9: 109,105,332 (GRCm39)	S278P	probably damaging	Het
Fpr1	G	T	17: 18,097,190 (GRCm39)	C266*	probably null	Het
Fsip2	T	C	2: 82,812,798 (GRCm39)	I3039T	probably benign	Het
Gas1	G	T	13: 60,324,186 (GRCm39)	S190R	possibly damaging	Het
Gemin2	A	G	12: 59,060,371 (GRCm39)	T37A	probably damaging	Het
Gm21370	T	C	13: 120,488,403 (GRCm39)	I49V	probably benign	Het
Gm8444	T	C	15: 81,727,807 (GRCm39)		probably benign	Het
Gria1	A	G	11: 57,128,936 (GRCm39)	D401G	possibly damaging	Het
Gstk1	G	A	6: 42,226,794 (GRCm39)	V187I	possibly damaging	Het
Hmcn1	T	C	1: 150,506,479 (GRCm39)	D3776G	probably damaging	Het
Itfg1	A	C	8: 86,563,094 (GRCm39)	V102G	probably damaging	Het
Kidins220	A	G	12: 25,101,307 (GRCm39)		probably null	Het
Kif13b	A	C	14: 64,973,664 (GRCm39)	D338A	probably damaging	Het
Mab21l2	T	C	3: 86,454,565 (GRCm39)	Y145C	probably damaging	Het
Magel2	A	G	7: 62,027,389 (GRCm39)	M98V	unknown	Het
Mdfic	T	C	6: 15,721,196 (GRCm39)		probably benign	Het
Minar1	A	G	9: 89,473,220 (GRCm39)	I897T	probably damaging	Het
Mlip	G	A	9: 77,137,764 (GRCm39)	S381L	probably damaging	Het
Mycbp2	A	G	14: 103,384,453 (GRCm39)	L3475P	probably damaging	Het
Myh14	G	A	7: 44,276,457 (GRCm39)	T1216I	probably damaging	Het
Nfatc2	T	A	2: 168,322,158 (GRCm39)	I914F	probably benign	Het
Nup58	T	C	14: 60,478,256 (GRCm39)		probably null	Het
Or10ag53	T	A	2: 87,083,042 (GRCm39)	S254T	probably damaging	Het
Or10al4	T	C	17: 38,037,032 (GRCm39)	L48P	probably damaging	Het
Or13a22	A	G	7: 140,072,529 (GRCm39)		probably benign	Het
Or2y13	G	T	11: 49,414,338 (GRCm39)		probably benign	Het
Or4l15	A	G	14: 50,198,526 (GRCm39)	M1T	probably null	Het
Or5p50	A	T	7: 107,421,781 (GRCm39)	N298K	probably benign	Het
Or7g20	A	C	9: 18,946,689 (GRCm39)	Q90P	probably benign	Het
Otx1	A	T	11: 21,949,406 (GRCm39)	L24H	probably damaging	Het
Oxr1	A	G	15: 41,689,315 (GRCm39)	Q513R	probably damaging	Het
Padi1	C	T	4: 140,554,276 (GRCm39)	V310M	probably damaging	Het
Pard3	T	C	8: 127,800,023 (GRCm39)	L11S	probably benign	Het
Pcdhb14	A	T	18: 37,581,497 (GRCm39)	D201V	probably damaging	Het
Pcdhb7	A	G	18: 37,475,622 (GRCm39)	R253G	probably benign	Het
Plxnb2	C	T	15: 89,051,461 (GRCm39)	D253N	probably damaging	Het
Ppp2cb	T	C	8: 34,105,502 (GRCm39)	S171P	probably damaging	Het
Prr5	C	T	15: 84,577,973 (GRCm39)	T94M	probably damaging	Het
Rp1	A	G	1: 4,420,092 (GRCm39)	F340S	probably damaging	Het
Rpa1	C	G	11: 75,201,062 (GRCm39)	G433A	probably benign	Het
Smg1	A	T	7: 117,788,386 (GRCm39)		probably benign	Het
Sry	C	G	Y: 2,662,975 (GRCm39)	Q228H	unknown	Homo
Svep1	C	T	4: 58,072,872 (GRCm39)	G2146R	probably damaging	Het
Tas2r106	A	G	6: 131,655,173 (GRCm39)	M226T	probably damaging	Het
Tbk1	T	C	10: 121,420,148 (GRCm39)	I14V	probably benign	Het
Tekt4	G	C	17: 25,691,197 (GRCm39)	V168L	probably damaging	Het
Tnfaip1	T	A	11: 78,418,372 (GRCm39)	T232S	probably damaging	Het
Trio	C	T	15: 27,744,038 (GRCm39)		probably null	Het
Ttn	T	A	2: 76,774,781 (GRCm39)	Y2133F	unknown	Het
Uap1l1	C	T	2: 25,252,741 (GRCm39)	R433H	probably damaging	Het
Ugt2b35	T	C	5: 87,155,181 (GRCm39)	F339L	probably damaging	Het
Unc5b	T	C	10: 60,608,003 (GRCm39)	Y699C	probably damaging	Het
Vcpip1	T	C	1: 9,795,005 (GRCm39)	H1122R	probably damaging	Het
Vmn2r91	T	C	17: 18,326,888 (GRCm39)	V391A	probably benign	Het
Vps13c	C	T	9: 67,822,939 (GRCm39)	R1327W	probably damaging	Het
Yes1	A	G	5: 32,802,385 (GRCm39)	Y100C	probably damaging	Het
Zfp407	A	T	18: 84,577,134 (GRCm39)	N1326K	possibly damaging	Het
Zfp518a	G	A	19: 40,903,890 (GRCm39)	C1273Y	probably benign	Het
Zfr	AGCAGCAGCAGCAGCTGCTGCTGCAGCAGCA	AGCAGCAGCA	15: 12,146,317 (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
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
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'- AAGGCCATTGTTCAGGTAAGTG -3'
(R):5'- CATTGTAGAGCATGGTCTATGTGC -3'

Sequencing Primer
(F):5'- TGTACCAATTCTAAGAATGAACTCAC -3'
(R):5'- TCTATGTGCTGGGCCCTGC -3'

Posted On

2018-02-27