Mutagenetix > Incidental Mutation

Incidental Mutation 'R4687:Atp6v1h'

500025

Institutional Source

Beutler Lab

Gene Symbol

Atp6v1h

Ensembl Gene

ENSMUSG00000033793

Gene Name

ATPase, H+ transporting, lysosomal V1 subunit H

Synonyms

0710001F19Rik

MMRRC Submission

041938-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4687 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

5070018-5162529 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 5133085 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 291 (N291I)

Ref Sequence

ENSEMBL: ENSMUSP00000141636 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044369] [ENSMUST00000192698] [ENSMUST00000192847]

AlphaFold

Q8BVE3

Predicted Effect

probably damaging
Transcript: ENSMUST00000044369
AA Change: N291I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000040756
Gene: ENSMUSG00000033793
AA Change: N291I

Domain	Start	End	E-Value	Type
Pfam:V-ATPase_H_N	17	342	3e-106	PFAM
Pfam:V-ATPase_H_C	348	464	1.9e-49	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000192698
AA Change: N273I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000141797
Gene: ENSMUSG00000033793
AA Change: N273I

Domain	Start	End	E-Value	Type
Pfam:V-ATPase_H_N	17	324	4.4e-104	PFAM
Pfam:V-ATPase_H_C	329	447	1.7e-48	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000192847
AA Change: N291I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000141636
Gene: ENSMUSG00000033793
AA Change: N291I

Domain	Start	End	E-Value	Type
Pfam:V-ATPase_H_N	17	342	1e-102	PFAM
Pfam:V-ATPase_H_C	332	423	2.7e-25	PFAM
Pfam:Arm_2	339	427	4.6e-5	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194301

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

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 intracellular organelles. V-ATPase-dependent organelle acidification is necessary for multiple processes including protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. The encoded protein is the regulatory H subunit of the V1 domain of V-ATPase, which is required for catalysis of ATP but not the assembly of V-ATPase. Decreased expression of this gene may play a role in the development of type 2 diabetes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality. Mice heterozygous for the allele exhbit bone loss with altered bone absorption and decreased bone formation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	T	A	17: 8,992,153	Y45N	probably damaging	Het
Agbl3	T	C	6: 34,798,326	V189A	probably damaging	Het
Akip1	C	A	7: 109,704,986	S90*	probably null	Het
Amn	A	T	12: 111,276,068	D439V	probably benign	Het
Arhgap17	T	A	7: 123,321,603	D149V	probably damaging	Het
Atp6v0a4	A	T	6: 38,092,465	I76N	possibly damaging	Het
Baiap2l2	G	T	15: 79,259,253	P462T	probably damaging	Het
Bves	C	T	10: 45,354,840		probably null	Het
Cabp7	T	A	11: 4,739,265	K127*	probably null	Het
Cacna1h	A	G	17: 25,393,910	V313A	possibly damaging	Het
Camkk2	T	C	5: 122,753,724	H245R	probably damaging	Het
Celsr1	T	A	15: 85,932,460	S1761C	possibly damaging	Het
Cfap46	T	C	7: 139,627,456	E1849G	possibly damaging	Het
Ciz1	T	C	2: 32,367,465	L174P	probably damaging	Het
Crim1	G	T	17: 78,303,025	C303F	probably damaging	Het
Cyp26c1	A	G	19: 37,692,937	Q396R	probably damaging	Het
Dnajc7	G	A	11: 100,599,300	P43L	probably damaging	Het
Dpf2	T	C	19: 5,907,012	H16R	probably damaging	Het
Dsp	A	G	13: 38,191,619	T1127A	probably damaging	Het
Dst	T	C	1: 34,201,123	L1525P	probably damaging	Het
Ehf	T	A	2: 103,267,126	D192V	probably damaging	Het
Frem1	G	T	4: 83,020,631	N71K	probably damaging	Het
Furin	T	A	7: 80,393,447	T339S	probably benign	Het
Gad1	T	A	2: 70,600,720	I569N	possibly damaging	Het
Gfi1	T	C	5: 107,723,810	K10R	probably damaging	Het
Gm20775	T	A	Y: 10,641,258		noncoding transcript	Homo
Gpn3	A	C	5: 122,378,575	D89A	possibly damaging	Het
Gpr18	T	A	14: 121,911,678	R312*	probably null	Het
Gsap	T	C	5: 21,246,971		probably benign	Het
H2-Ab1	C	A	17: 34,264,809	T48K	probably damaging	Het
Hmcn2	A	T	2: 31,438,285	N4326I	probably benign	Het
Igkv4-51	A	C	6: 69,681,730		probably benign	Het
Insr	T	C	8: 3,161,709	H1104R	probably benign	Het
Ipo13	A	T	4: 117,901,576	N697K	probably benign	Het
Iqcm	T	G	8: 75,762,989	F362V	probably damaging	Het
Irak4	T	C	15: 94,566,823	S425P	probably damaging	Het
Jakmip2	T	C	18: 43,577,412	E242G	possibly damaging	Het
Kdm4a	T	C	4: 118,144,083	K829R	probably damaging	Het
Kdr	T	C	5: 75,968,792	N145S	possibly damaging	Het
Klra9	A	T	6: 130,185,517	D185E	probably benign	Het
Lcn12	T	C	2: 25,493,321	N15S	probably benign	Het
Mei4	T	A	9: 81,927,317	M151K	probably damaging	Het
Mmp3	T	A	9: 7,451,223	S320T	probably benign	Het
Mrps5	C	G	2: 127,590,770	A37G	probably benign	Het
Mttp	A	G	3: 138,092,735	I800T	possibly damaging	Het
Nags	A	T	11: 102,148,196	Q451L	probably damaging	Het
Nbea	T	C	3: 56,058,065	T476A	probably damaging	Het
Ndufb10	T	C	17: 24,722,419	E145G	possibly damaging	Het
Neb	T	G	2: 52,304,035	S660R	possibly damaging	Het
Nppb	A	G	4: 147,986,296	K43E	probably benign	Het
Nup188	A	T	2: 30,330,633	Q906L	probably benign	Het
Olfr1259	T	C	2: 89,943,869	D82G	probably damaging	Het
Olfr1413	T	C	1: 92,573,330	I53T	possibly damaging	Het
Olfr370	T	A	8: 83,541,860	S239T	probably damaging	Het
Olfr895	C	A	9: 38,269,414	N292K	probably damaging	Het
Ovch2	T	A	7: 107,796,548	I88F	possibly damaging	Het
Palm3	A	G	8: 84,029,935	E692G	probably benign	Het
Pcsk6	T	C	7: 65,983,753	F578L	probably damaging	Het
Piezo2	A	C	18: 63,069,963	D1535E	probably damaging	Het
Ppp1r15b	T	C	1: 133,132,135	V130A	probably benign	Het
Proca1	T	C	11: 78,204,898	Y32H	probably damaging	Het
Prtg	T	A	9: 72,890,798	V682E	probably damaging	Het
Pyroxd1	A	T	6: 142,361,868	M455L	probably benign	Het
Rasa1	T	C	13: 85,226,635	D739G	possibly damaging	Het
Scn3a	T	C	2: 65,464,730	I1550V	possibly damaging	Het
Sepsecs	T	C	5: 52,643,871	D483G	probably benign	Het
Setd7	T	C	3: 51,550,355	D17G	probably damaging	Het
Sipa1l2	C	T	8: 125,491,245	C451Y	probably damaging	Het
Slc31a1	A	G	4: 62,388,702	Y165C	probably damaging	Het
Smg5	T	C	3: 88,342,469	F68L	possibly damaging	Het
Sptbn5	A	G	2: 120,077,208		probably benign	Het
Stk3	A	G	15: 35,114,565	I65T	probably damaging	Het
Tas2r115	C	T	6: 132,737,284	A235T	possibly damaging	Het
Tenm2	C	T	11: 36,049,097	A1400T	probably benign	Het
Tet1	T	A	10: 62,838,791	N1169Y	probably benign	Het
Treml2	T	A	17: 48,309,397		probably null	Het
Tspan11	A	G	6: 127,938,235	E104G	probably damaging	Het
Wdtc1	G	A	4: 133,296,431	A543V	probably damaging	Het
Zfp148	T	A	16: 33,496,819	D578E	probably damaging	Het
Zfp735	A	T	11: 73,711,855	N542Y	probably damaging	Het
Zfp735	A	T	11: 73,711,856	N542I	probably damaging	Het
Zfp869	T	A	8: 69,708,143	E65D	probably benign	Het

Other mutations in Atp6v1h

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00671:Atp6v1h	APN	1	5124471	critical splice donor site	probably null
IGL00984:Atp6v1h	APN	1	5095682	missense	probably damaging	1.00
IGL01545:Atp6v1h	APN	1	5089059	missense	probably benign
IGL01788:Atp6v1h	APN	1	5149983	missense	possibly damaging	0.81
IGL02317:Atp6v1h	APN	1	5084470	missense	possibly damaging	0.95
IGL02679:Atp6v1h	APN	1	5124302	missense	probably damaging	1.00
IGL02944:Atp6v1h	APN	1	5093355	splice site	probably benign
IGL03119:Atp6v1h	APN	1	5095669	missense	probably benign	0.34
F5770:Atp6v1h	UTSW	1	5124443	missense	possibly damaging	0.94
R0055:Atp6v1h	UTSW	1	5084454	missense	probably benign	0.01
R0055:Atp6v1h	UTSW	1	5084454	missense	probably benign	0.01
R0727:Atp6v1h	UTSW	1	5084558	nonsense	probably null
R1452:Atp6v1h	UTSW	1	5098137	unclassified	probably benign
R1465:Atp6v1h	UTSW	1	5095688	missense	probably damaging	1.00
R1465:Atp6v1h	UTSW	1	5095688	missense	probably damaging	1.00
R2273:Atp6v1h	UTSW	1	5117476	missense	probably damaging	1.00
R4512:Atp6v1h	UTSW	1	5098135	critical splice donor site	probably null
R5185:Atp6v1h	UTSW	1	5095642	missense	probably damaging	1.00
R5628:Atp6v1h	UTSW	1	5135889	nonsense	probably null
R5843:Atp6v1h	UTSW	1	5162089	splice site	probably null
R7037:Atp6v1h	UTSW	1	5149992	missense	possibly damaging	0.77
R7505:Atp6v1h	UTSW	1	5124338	missense	probably benign
R9098:Atp6v1h	UTSW	1	5093415	missense	probably damaging	1.00
R9291:Atp6v1h	UTSW	1	5150061	missense	probably null	0.40
R9348:Atp6v1h	UTSW	1	5117476	missense	probably damaging	1.00
V7580:Atp6v1h	UTSW	1	5124443	missense	possibly damaging	0.94
V7581:Atp6v1h	UTSW	1	5124443	missense	possibly damaging	0.94
V7582:Atp6v1h	UTSW	1	5124443	missense	possibly damaging	0.94
V7583:Atp6v1h	UTSW	1	5124443	missense	possibly damaging	0.94
Z1088:Atp6v1h	UTSW	1	5098048	missense	probably damaging	1.00
Z1176:Atp6v1h	UTSW	1	5095628	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATGTGTCCTTCATACCGGTTGG -3'
(R):5'- ACACCTAAGGTCCTGGACAC -3'

Sequencing Primer
(F):5'- GGGACATCTTCTGGATATATGCCC -3'
(R):5'- TAAGGTCCTGGACACTCTCAC -3'

Posted On

2017-11-30