Mutagenetix > Incidental Mutation

Incidental Mutation 'R9098:Atp6v1h'

691441

Institutional Source

Beutler Lab

Gene Symbol

Atp6v1h

Ensembl Gene

ENSMUSG00000033793

Gene Name

ATPase, H+ transporting, lysosomal V1 subunit H

Synonyms

0710001F19Rik

MMRRC Submission

068913-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9098 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

5153201-5233438 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 5163638 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 90 (V90G)

Ref Sequence

ENSEMBL: ENSMUSP00000040756 (fasta)

Gene Model

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

AlphaFold

Q8BVE3

Predicted Effect

probably damaging
Transcript: ENSMUST00000044369
AA Change: V90G

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

SMART Domains

Protein: ENSMUSP00000040756
Gene: ENSMUSG00000033793
AA Change: V90G

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: ENSMUST00000192029
AA Change: V50G

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

SMART Domains

Protein: ENSMUSP00000141440
Gene: ENSMUSG00000033793
AA Change: V50G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000192698
AA Change: V90G

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

SMART Domains

Protein: ENSMUSP00000141797
Gene: ENSMUSG00000033793
AA Change: V90G

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: V90G

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

SMART Domains

Protein: ENSMUSP00000141636
Gene: ENSMUSG00000033793
AA Change: V90G

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

probably damaging
Transcript: ENSMUST00000194676
AA Change: V90G

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

SMART Domains

Protein: ENSMUSP00000141264
Gene: ENSMUSG00000033793
AA Change: V90G

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

Meta Mutation Damage Score

0.7187

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

97% (72/74)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830018L16Rik	A	T	1: 11,633,211 (GRCm39)	D168V	probably damaging	Het
Abcb4	A	T	5: 9,008,441 (GRCm39)	D1203V	probably damaging	Het
Acat2	G	A	17: 13,178,979 (GRCm39)		probably benign	Het
Adam3	C	T	8: 25,179,484 (GRCm39)	C611Y	probably damaging	Het
Adgrb1	A	G	15: 74,415,189 (GRCm39)	D638G	probably damaging	Het
Adra1b	T	C	11: 43,667,218 (GRCm39)	N340D	probably damaging	Het
Ankrd31	A	G	13: 96,916,879 (GRCm39)	H131R	probably damaging	Het
Aoc2	T	C	11: 101,217,164 (GRCm39)	S416P	possibly damaging	Het
Armc8	G	A	9: 99,387,362 (GRCm39)	R419*	probably null	Het
Avl9	T	C	6: 56,707,628 (GRCm39)	V191A	probably benign	Het
Bsn	G	A	9: 107,990,173 (GRCm39)	P1860S	possibly damaging	Het
Btd	A	G	14: 31,384,233 (GRCm39)	K73R	probably benign	Het
Cd22	T	C	7: 30,567,391 (GRCm39)	K731R	probably benign	Het
Chmp7	C	A	14: 69,956,911 (GRCm39)	L332F	probably damaging	Het
Cirop	T	G	14: 54,932,686 (GRCm39)	S393R	probably damaging	Het
Cldn11	A	G	3: 31,217,276 (GRCm39)	E148G	probably damaging	Het
Cmtm1	TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG	TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG	8: 105,036,334 (GRCm39)		probably null	Het
Cnbd1	A	T	4: 18,886,061 (GRCm39)	Y319*	probably null	Het
Cnnm4	A	G	1: 36,511,170 (GRCm39)	T133A	probably benign	Het
Cpeb4	A	T	11: 31,822,679 (GRCm39)	E131V	probably benign	Het
Ctns	A	G	11: 73,078,561 (GRCm39)		probably null	Het
Dhx36	C	A	3: 62,414,142 (GRCm39)	Q73H	probably benign	Het
Dhx36	C	A	3: 62,414,141 (GRCm39)	E74*	probably null	Het
Dnah5	A	G	15: 28,420,107 (GRCm39)	T3802A		Het
Fbxo31	G	A	8: 122,281,136 (GRCm39)	R337C	probably damaging	Het
Flnc	C	T	6: 29,455,518 (GRCm39)	Q2056*	probably null	Het
Fmo9	T	C	1: 166,492,199 (GRCm39)	D408G	possibly damaging	Het
Gipr	C	T	7: 18,897,495 (GRCm39)	S117N	unknown	Het
Gm14412	T	A	2: 177,006,356 (GRCm39)	H513L	probably damaging	Het
Gm21663	G	C	5: 26,147,167 (GRCm39)	C46W	probably benign	Het
Gucy1a2	A	T	9: 3,634,489 (GRCm39)	I178L	probably benign	Het
Htr1b	A	T	9: 81,514,481 (GRCm39)	L42Q		Het
Htr2b	T	C	1: 86,027,481 (GRCm39)	T342A	probably damaging	Het
Jkampl	T	C	6: 73,446,517 (GRCm39)	T11A	probably benign	Het
Jph2	C	T	2: 163,181,473 (GRCm39)	V564M	probably damaging	Het
Kcnmb1	A	G	11: 33,914,806 (GRCm39)	T36A	probably damaging	Het
Krit1	A	C	5: 3,863,135 (GRCm39)	K310N	probably benign	Het
Lama1	C	T	17: 68,111,508 (GRCm39)	T2253M		Het
Lpar6	C	T	14: 73,476,233 (GRCm39)	L65F	probably damaging	Het
Megf6	G	A	4: 154,354,160 (GRCm39)	G1355R	probably damaging	Het
Mmp3	T	A	9: 7,446,936 (GRCm39)	Y39N	probably damaging	Het
Mrtfb	A	G	16: 13,221,053 (GRCm39)	H743R	probably benign	Het
Ms4a18	C	A	19: 10,990,741 (GRCm39)	V118F		Het
Mthfr	G	A	4: 148,126,082 (GRCm39)	S51N	probably benign	Het
Muc16	T	A	9: 18,554,975 (GRCm39)	T3773S	unknown	Het
Mus81	T	A	19: 5,534,032 (GRCm39)	K400*	probably null	Het
Naaladl2	A	T	3: 24,487,344 (GRCm39)	D192E	probably benign	Het
Naip5	T	C	13: 100,366,127 (GRCm39)	D329G	possibly damaging	Het
Nek11	T	A	9: 105,170,856 (GRCm39)	H393L	probably benign	Het
Nmt2	T	A	2: 3,306,315 (GRCm39)		probably benign	Het
Nmur2	T	C	11: 55,920,408 (GRCm39)	D279G	possibly damaging	Het
Nol4l	C	A	2: 153,312,630 (GRCm39)	R226L	probably damaging	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,237,059 (GRCm39)		probably benign	Het
Or10d4c	A	G	9: 39,558,379 (GRCm39)	D119G	probably damaging	Het
Or1o2	T	C	17: 37,542,961 (GRCm39)	Y100C	probably benign	Het
Or5ak22	T	C	2: 85,229,995 (GRCm39)	N294S	probably damaging	Het
Palm	A	G	10: 79,654,988 (GRCm39)	T249A	probably benign	Het
Pramel22	A	T	4: 143,381,097 (GRCm39)	Y309N	probably benign	Het
Rhobtb3	A	G	13: 76,087,702 (GRCm39)	I95T	probably damaging	Het
Rnpep	A	T	1: 135,206,559 (GRCm39)	F178L	possibly damaging	Het
Rsl1d1	A	G	16: 11,019,227 (GRCm39)	S105P	probably damaging	Het
Rxra	C	T	2: 27,638,756 (GRCm39)	T253I	possibly damaging	Het
Schip1	A	G	3: 67,972,318 (GRCm39)	D15G		Het
Sis	T	A	3: 72,844,578 (GRCm39)	I719F	possibly damaging	Het
Snx18	A	G	13: 113,754,310 (GRCm39)	S208P	probably benign	Het
Srcap	T	C	7: 127,151,816 (GRCm39)	V2125A	probably damaging	Het
Stx7	C	T	10: 24,058,724 (GRCm39)	Q199*	probably null	Het
Syt6	T	C	3: 103,492,895 (GRCm39)	I134T	probably damaging	Het
Tlr12	A	G	4: 128,510,870 (GRCm39)	M460T	probably benign	Het
Tnni3k	T	C	3: 154,647,314 (GRCm39)	T398A	possibly damaging	Het
Tspan4	T	C	7: 141,071,816 (GRCm39)	S188P	probably benign	Het
Ubap2l	A	G	3: 89,909,756 (GRCm39)	S1025P	unknown	Het
Ubl7	A	G	9: 57,829,035 (GRCm39)	D219G	probably benign	Het
Vmn2r115	C	A	17: 23,564,803 (GRCm39)	T230K	probably benign	Het
Vmn2r95	T	A	17: 18,660,167 (GRCm39)	M193K	possibly damaging	Het
Zfp639	A	G	3: 32,573,885 (GRCm39)	E170G	probably damaging	Het
Zfy1	A	G	Y: 725,987 (GRCm39)	S593P	possibly damaging	Het
Zscan4-ps1	T	A	7: 10,799,495 (GRCm39)	T465S	probably damaging	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
R1452:Atp6v1h	UTSW	1	5,168,360 (GRCm39)	unclassified	probably benign
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
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'- AAGTCATGGTGAAGTCCTCGGG -3'
(R):5'- AGGTTACTCTTTGCCTCATTAGAC -3'

Sequencing Primer
(F):5'- CAAGGGAATCTCTGAGCTTATGGC -3'
(R):5'- GCCTCATTAGACCTGAAAATGAAG -3'

Posted On

2021-12-30