Mutagenetix > Incidental Mutation

Incidental Mutation 'R1452:Atp6v1h'

161036

Institutional Source

Beutler Lab

Gene Symbol

Atp6v1h

Ensembl Gene

ENSMUSG00000033793

Gene Name

ATPase, H+ transporting, lysosomal V1 subunit H

Synonyms

0710001F19Rik

MMRRC Submission

039507-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1452 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

5153201-5233438 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 5168360 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000141264 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044369] [ENSMUST00000192029] [ENSMUST00000192698] [ENSMUST00000192847] [ENSMUST00000194676]

AlphaFold

Q8BVE3

Predicted Effect

probably benign
Transcript: ENSMUST00000044369

SMART Domains

Protein: ENSMUSP00000040756
Gene: ENSMUSG00000033793

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 benign
Transcript: ENSMUST00000192029

SMART Domains

Protein: ENSMUSP00000141440
Gene: ENSMUSG00000033793

Domain	Start	End	E-Value	Type
Pfam:V-ATPase_H_N	1	77	3.7e-20	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192142

Predicted Effect

probably benign
Transcript: ENSMUST00000192698

SMART Domains

Protein: ENSMUSP00000141797
Gene: ENSMUSG00000033793

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 benign
Transcript: ENSMUST00000192847

SMART Domains

Protein: ENSMUSP00000141636
Gene: ENSMUSG00000033793

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

Predicted Effect

probably benign
Transcript: ENSMUST00000194676

SMART Domains

Protein: ENSMUSP00000141264
Gene: ENSMUSG00000033793

Domain	Start	End	E-Value	Type
Pfam:V-ATPase_H_N	17	140	4.9e-35	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.9%
3x: 97.8%
10x: 94.8%
20x: 87.5%

Validation Efficiency

99% (70/71)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	G	6: 121,655,015 (GRCm39)	I1446M	probably benign	Het
Acaca	T	A	11: 84,185,885 (GRCm39)		probably benign	Het
Adgre4	A	T	17: 56,091,996 (GRCm39)	E85D	probably benign	Het
Akt3	A	T	1: 176,958,633 (GRCm39)	Y26N	possibly damaging	Het
Arl15	T	C	13: 114,104,319 (GRCm39)	V132A	probably benign	Het
Atrip	T	A	9: 108,901,727 (GRCm39)	D110V	probably damaging	Het
Bahcc1	T	G	11: 120,173,065 (GRCm39)		probably benign	Het
Cd53	C	T	3: 106,676,275 (GRCm39)	G31S	probably damaging	Het
Cdk14	T	C	5: 4,938,927 (GRCm39)	S404G	possibly damaging	Het
Cers3	A	T	7: 66,433,152 (GRCm39)	K156N	probably damaging	Het
Colgalt2	C	A	1: 152,379,904 (GRCm39)	L448M	probably damaging	Het
Cox15	G	T	19: 43,735,344 (GRCm39)	T141K	probably damaging	Het
Csnk2a2	C	T	8: 96,184,003 (GRCm39)		probably benign	Het
Cyp2b10	A	T	7: 25,624,813 (GRCm39)		probably benign	Het
Cyp2c55	A	G	19: 38,999,534 (GRCm39)	Y80C	probably damaging	Het
Depdc1a	A	G	3: 159,232,328 (GRCm39)	Y693C	possibly damaging	Het
Des	T	C	1: 75,340,121 (GRCm39)	S343P	probably damaging	Het
Dync1i2	T	C	2: 71,080,207 (GRCm39)		probably benign	Het
Eif3m	T	A	2: 104,837,122 (GRCm39)	Q199L	probably damaging	Het
Emsy	G	T	7: 98,249,881 (GRCm39)	T802K	probably damaging	Het
Endov	A	G	11: 119,382,651 (GRCm39)	T33A	probably damaging	Het
Epb41l5	G	A	1: 119,476,896 (GRCm39)	T728I	probably damaging	Het
Fbxo39	A	G	11: 72,209,228 (GRCm39)	I363V	probably benign	Het
Gm8674	C	T	13: 50,054,553 (GRCm39)		noncoding transcript	Het
Il6st	T	A	13: 112,617,998 (GRCm39)	N137K	possibly damaging	Het
Inf2	A	G	12: 112,567,778 (GRCm39)	N136S	probably damaging	Het
Iqub	A	T	6: 24,491,558 (GRCm39)	I376N	probably benign	Het
Kansl3	A	G	1: 36,393,874 (GRCm39)		probably benign	Het
Kbtbd2	A	T	6: 56,758,909 (GRCm39)	H71Q	probably damaging	Het
Lgals8	G	T	13: 12,468,208 (GRCm39)	Y140*	probably null	Het
Mab21l4	T	C	1: 93,080,661 (GRCm39)	Y415C	probably damaging	Het
Macf1	T	A	4: 123,387,791 (GRCm39)	I924L	probably benign	Het
Mcoln2	A	T	3: 145,887,569 (GRCm39)	T329S	possibly damaging	Het
Mex3d	A	T	10: 80,217,354 (GRCm39)	L621Q	probably damaging	Het
Mmut	A	G	17: 41,248,359 (GRCm39)		probably benign	Het
Ncor1	T	C	11: 62,225,457 (GRCm39)	H1038R	probably damaging	Het
Neb	A	G	2: 52,161,309 (GRCm39)		probably null	Het
Ngrn	A	G	7: 79,914,520 (GRCm39)	T224A	probably benign	Het
Nin	G	A	12: 70,064,424 (GRCm39)	R2019*	probably null	Het
Nphp4	C	G	4: 152,631,475 (GRCm39)	Q792E	probably damaging	Het
Or13e8	C	T	4: 43,696,823 (GRCm39)	V117M	probably benign	Het
Or2z9	C	T	8: 72,854,020 (GRCm39)	Q139*	probably null	Het
Or4c3d	C	T	2: 89,882,015 (GRCm39)	V218I	possibly damaging	Het
Or5d38	C	T	2: 87,954,655 (GRCm39)	V225I	probably benign	Het
Or8k3	T	A	2: 86,058,799 (GRCm39)	N172I	probably damaging	Het
Pde4dip	C	A	3: 97,631,418 (GRCm39)	V1164L	probably damaging	Het
Plppr1	A	G	4: 49,301,067 (GRCm39)		probably benign	Het
Pole2	G	A	12: 69,254,703 (GRCm39)	L381F	probably benign	Het
Ppp2r5e	A	G	12: 75,516,310 (GRCm39)		probably benign	Het
Prim2	T	A	1: 33,669,485 (GRCm39)	E163D	probably benign	Het
Prrc2b	A	T	2: 32,084,997 (GRCm39)	D296V	probably damaging	Het
Pter	A	G	2: 12,983,432 (GRCm39)		probably benign	Het
Resf1	A	T	6: 149,228,130 (GRCm39)	K392I	probably damaging	Het
Robo2	C	A	16: 73,758,798 (GRCm39)	V662L	probably damaging	Het
Sirpd	G	T	3: 15,397,212 (GRCm39)	T24K	unknown	Het
Slco1b2	A	T	6: 141,617,926 (GRCm39)	I424F	probably benign	Het
Snx29	A	T	16: 11,449,335 (GRCm39)	H260L	probably damaging	Het
Stil	A	G	4: 114,896,392 (GRCm39)	N959S	probably benign	Het
Taar8c	A	T	10: 23,977,508 (GRCm39)	D101E	probably benign	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Trpc6	G	A	9: 8,653,148 (GRCm39)	M573I	probably damaging	Het
Tsr1	A	T	11: 74,790,425 (GRCm39)	D171V	probably benign	Het
Ube4b	T	C	4: 149,455,626 (GRCm39)	T348A	probably damaging	Het
Vmn1r85	A	T	7: 12,818,808 (GRCm39)	I112N	probably damaging	Het
Vps36	A	G	8: 22,708,226 (GRCm39)		probably null	Het
Wdfy3	G	A	5: 102,085,604 (GRCm39)	A630V	possibly damaging	Het
Wdsub1	A	T	2: 59,707,144 (GRCm39)	D14E	probably null	Het
Ylpm1	T	C	12: 85,077,157 (GRCm39)	I1294T	possibly damaging	Het
Zdhhc17	A	G	10: 110,790,936 (GRCm39)	F378L	probably benign	Het

Other mutations in Atp6v1h

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00671:Atp6v1h	APN	1	5,194,694 (GRCm39)	critical splice donor site	probably null
IGL00984:Atp6v1h	APN	1	5,165,905 (GRCm39)	missense	probably damaging	1.00
IGL01545:Atp6v1h	APN	1	5,159,282 (GRCm39)	missense	probably benign
IGL01788:Atp6v1h	APN	1	5,220,206 (GRCm39)	missense	possibly damaging	0.81
IGL02317:Atp6v1h	APN	1	5,154,693 (GRCm39)	missense	possibly damaging	0.95
IGL02679:Atp6v1h	APN	1	5,194,525 (GRCm39)	missense	probably damaging	1.00
IGL02944:Atp6v1h	APN	1	5,163,578 (GRCm39)	splice site	probably benign
IGL03119:Atp6v1h	APN	1	5,165,892 (GRCm39)	missense	probably benign	0.34
F5770:Atp6v1h	UTSW	1	5,194,666 (GRCm39)	missense	possibly damaging	0.94
R0055:Atp6v1h	UTSW	1	5,154,677 (GRCm39)	missense	probably benign	0.01
R0055:Atp6v1h	UTSW	1	5,154,677 (GRCm39)	missense	probably benign	0.01
R0727:Atp6v1h	UTSW	1	5,154,781 (GRCm39)	nonsense	probably null
R1465:Atp6v1h	UTSW	1	5,165,911 (GRCm39)	missense	probably damaging	1.00
R1465:Atp6v1h	UTSW	1	5,165,911 (GRCm39)	missense	probably damaging	1.00
R2273:Atp6v1h	UTSW	1	5,187,699 (GRCm39)	missense	probably damaging	1.00
R4512:Atp6v1h	UTSW	1	5,168,358 (GRCm39)	critical splice donor site	probably null
R4687:Atp6v1h	UTSW	1	5,203,308 (GRCm39)	missense	probably damaging	1.00
R5185:Atp6v1h	UTSW	1	5,165,865 (GRCm39)	missense	probably damaging	1.00
R5628:Atp6v1h	UTSW	1	5,206,112 (GRCm39)	nonsense	probably null
R5843:Atp6v1h	UTSW	1	5,232,312 (GRCm39)	splice site	probably null
R7037:Atp6v1h	UTSW	1	5,220,215 (GRCm39)	missense	possibly damaging	0.77
R7505:Atp6v1h	UTSW	1	5,194,561 (GRCm39)	missense	probably benign
R9098:Atp6v1h	UTSW	1	5,163,638 (GRCm39)	missense	probably damaging	1.00
R9291:Atp6v1h	UTSW	1	5,220,284 (GRCm39)	missense	probably null	0.40
R9348:Atp6v1h	UTSW	1	5,187,699 (GRCm39)	missense	probably damaging	1.00
V7580:Atp6v1h	UTSW	1	5,194,666 (GRCm39)	missense	possibly damaging	0.94
V7581:Atp6v1h	UTSW	1	5,194,666 (GRCm39)	missense	possibly damaging	0.94
V7582:Atp6v1h	UTSW	1	5,194,666 (GRCm39)	missense	possibly damaging	0.94
V7583:Atp6v1h	UTSW	1	5,194,666 (GRCm39)	missense	possibly damaging	0.94
Z1088:Atp6v1h	UTSW	1	5,168,271 (GRCm39)	missense	probably damaging	1.00
Z1176:Atp6v1h	UTSW	1	5,165,851 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGAAACGAATCCTATTCCTCCCATCCTC -3'
(R):5'- AAACAGTTAAGATGGCCTTCACATCAGT -3'

Sequencing Primer
(F):5'- CCCCAGGAATTGTTTTGAAAACC -3'
(R):5'- GATGGCCTTCACATCAGTAGTAG -3'

Posted On

2014-03-14