Mutagenetix > Incidental Mutation

Incidental Mutation 'R9291:Atp6v1h'

704246

Institutional Source

Beutler Lab

Gene Symbol

Atp6v1h

Ensembl Gene

ENSMUSG00000033793

Gene Name

ATPase, H+ transporting, lysosomal V1 subunit H

Synonyms

0710001F19Rik

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R9291 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

5070018-5162529 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 5150061 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Leucine at position 464 (W464L)

Ref Sequence

ENSEMBL: ENSMUSP00000040756 (fasta)

Gene Model

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

AlphaFold

Q8BVE3

Predicted Effect

probably null
Transcript: ENSMUST00000044369
AA Change: W464L

PolyPhen 2 Score 0.404 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000040756
Gene: ENSMUSG00000033793
AA Change: W464L

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: ENSMUST00000192698
AA Change: W446L

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000141797
Gene: ENSMUSG00000033793
AA Change: W446L

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

possibly damaging
Transcript: ENSMUST00000192847
AA Change: W422L

PolyPhen 2 Score 0.463 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000141636
Gene: ENSMUSG00000033793
AA Change: W422L

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 138,066,703	N551S	probably benign	Het
Abcg5	C	A	17: 84,668,952	V486L	probably benign	Het
Acoxl	T	A	2: 127,972,573	I303N	probably damaging	Het
Cdcp2	A	G	4: 107,106,856	D301G	probably damaging	Het
Cenpv	T	C	11: 62,538,862	D115G	probably benign	Het
Cnfn	T	C	7: 25,368,051	D67G	possibly damaging	Het
Col27a1	A	C	4: 63,224,302	I76L	probably damaging	Het
Crb2	G	A	2: 37,792,201	V865I	probably damaging	Het
Ctf1	T	A	7: 127,717,032	L58Q	probably damaging	Het
Dennd6b	C	T	15: 89,187,387	V276M	possibly damaging	Het
Dis3l2	A	G	1: 86,973,493	T483A	possibly damaging	Het
Dlg5	T	C	14: 24,191,161	T223A	probably damaging	Het
Dnah11	C	T	12: 118,027,516	E2372K	probably damaging	Het
Dnah8	T	C	17: 30,725,125	I1772T	probably damaging	Het
Dscaml1	T	C	9: 45,447,953	I170T	probably damaging	Het
Ehd4	G	T	2: 120,091,274	D500E	probably damaging	Het
Elac2	T	C	11: 64,992,316	I388T	probably damaging	Het
Entpd6	G	A	2: 150,767,039	V348M	probably benign	Het
Epg5	T	A	18: 78,012,850	C1746*	probably null	Het
Exosc2	G	T	2: 31,670,859	M40I	probably benign	Het
Fam193a	T	C	5: 34,436,491	Y27H	probably damaging	Het
Gm13084	A	T	4: 143,812,681	Y81N	probably benign	Het
Gm8005	A	G	14: 42,436,928	F148L		Het
Hectd4	T	C	5: 121,348,965	V3341A	probably benign	Het
Hecw1	A	G	13: 14,316,937	V77A	probably benign	Het
Irf2bp1	T	A	7: 19,004,533	C33S	probably damaging	Het
Kank4	A	T	4: 98,778,451	H586Q	probably benign	Het
Kcnu1	A	G	8: 25,900,013	N619S	probably benign	Het
Kndc1	A	G	7: 139,895,224	E13G	possibly damaging	Het
Lrp2	A	T	2: 69,480,035	D2731E	probably damaging	Het
Lyst	A	G	13: 13,709,353	N2942S	probably benign	Het
Maml3	G	A	3: 51,856,907	T212M	probably benign	Het
Mill2	T	C	7: 18,841,491	V41A	probably benign	Het
Moxd2	C	A	6: 40,880,428	C466F	probably damaging	Het
Nefh	A	G	11: 4,940,871	S583P	probably benign	Het
Nlrp9b	T	A	7: 20,024,586	S583T	possibly damaging	Het
Nup214	T	G	2: 31,977,794	M91R	probably benign	Het
Olfr1055	A	T	2: 86,347,424	I114N	probably benign	Het
Olfr1226	A	C	2: 89,193,794	M80R	possibly damaging	Het
Olfr776	T	C	10: 129,261,333	I124T	probably damaging	Het
Otud4	A	G	8: 79,646,323	Y90C	probably damaging	Het
Papln	C	A	12: 83,778,510	T575N	probably benign	Het
Pkhd1l1	T	A	15: 44,569,976	N3417K	probably damaging	Het
Pop7	A	G	5: 137,501,649	*141Q	probably null	Het
Rchy1	A	G	5: 91,951,906	L191S	possibly damaging	Het
Rims1	T	C	1: 22,397,522	D296G		Het
Sftpb	T	A	6: 72,309,897	C261*	probably null	Het
Sgcd	C	T	11: 46,979,339	C265Y	probably damaging	Het
Slc44a5	G	A	3: 154,256,581	V384M	possibly damaging	Het
Slx4ip	T	A	2: 137,046,796	N132K	probably benign	Het
Sspo	C	T	6: 48,496,396	T4861M	probably damaging	Het
Swt1	T	A	1: 151,410,943	E266V	probably damaging	Het
Tbc1d9	A	G	8: 83,261,121	D903G	probably damaging	Het
Tbx18	A	T	9: 87,729,482	M165K	probably damaging	Het
Tmem25	T	C	9: 44,795,502	N282S	probably damaging	Het
Tom1l2	T	C	11: 60,262,730	I140M	probably benign	Het
Trak2	A	G	1: 58,903,899	S783P	probably damaging	Het
Trpv4	G	A	5: 114,630,007	T534M	probably benign	Het
Ttc6	G	T	12: 57,575,944	R43M	probably damaging	Het
Vmn1r194	A	G	13: 22,244,705	Y164C	probably benign	Het
Vmn1r228	T	C	17: 20,776,761	Y165C	probably benign	Het
Vps13b	C	A	15: 35,846,913	T2614K	probably damaging	Het
Zdhhc14	T	C	17: 5,647,962	F102S	probably benign	Het
Zyg11b	A	G	4: 108,250,817	M464T	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
R4687:Atp6v1h	UTSW	1	5133085	missense	probably damaging	1.00
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
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'- TGGACTTTACACTTGTAACCTGTGTC -3'
(R):5'- GGCCTCAGTTACAGCTGAAG -3'

Sequencing Primer
(F):5'- CACTTGTAACCTGTGTCAAAGAATG -3'
(R):5'- GGGGTATCAGAAATCTGTACCTTTC -3'

Posted On

2022-03-25