Mutagenetix > Incidental Mutation

Incidental Mutation 'R2273:Atp6v1h'

242611

Institutional Source

Beutler Lab

Gene Symbol

Atp6v1h

Ensembl Gene

ENSMUSG00000033793

Gene Name

ATPase, H+ transporting, lysosomal V1 subunit H

Synonyms

0710001F19Rik

MMRRC Submission

040273-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2273 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

5153201-5233438 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 5187699 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 222 (D222E)

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: D222E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000040756
Gene: ENSMUSG00000033793
AA Change: D222E

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: D204E

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000141797
Gene: ENSMUSG00000033793
AA Change: D204E

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: D222E

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

SMART Domains

Protein: ENSMUSP00000141636
Gene: ENSMUSG00000033793
AA Change: D222E

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: 97.4%
20x: 95.3%

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
2300003K06Rik	A	T	11: 99,728,667 (GRCm39)	C59S	possibly damaging	Het
Abca5	A	T	11: 110,166,107 (GRCm39)	N1556K	possibly damaging	Het
Ackr1	T	C	1: 173,160,052 (GRCm39)	N156D	probably benign	Het
Ank3	T	A	10: 69,786,772 (GRCm39)		probably null	Het
Arhgef7	T	A	8: 11,865,010 (GRCm39)	F374Y	possibly damaging	Het
Atp11b	A	G	3: 35,882,762 (GRCm39)	I606V	probably benign	Het
Bco1	G	A	8: 117,835,522 (GRCm39)		probably null	Het
Cacna1g	T	A	11: 94,306,762 (GRCm39)	E1842V	probably damaging	Het
Calhm3	T	A	19: 47,145,986 (GRCm39)	Q73L	probably damaging	Het
Cdc42bpb	C	T	12: 111,268,601 (GRCm39)	E1200K	probably damaging	Het
Cdr2	A	T	7: 120,557,732 (GRCm39)	H264Q	possibly damaging	Het
Cecr2	C	T	6: 120,733,702 (GRCm39)	S563L	probably benign	Het
Cfh	C	T	1: 140,030,563 (GRCm39)	V824M	probably damaging	Het
Ciapin1	A	T	8: 95,558,415 (GRCm39)	V99E	probably damaging	Het
Col9a2	C	G	4: 120,911,455 (GRCm39)	R599G	probably damaging	Het
Cpxm2	TGCAGCAGCAGCAGCAGCAG	TGCAGCAGCAGCAGCAG	7: 131,661,581 (GRCm39)		probably benign	Het
Crim1	T	C	17: 78,662,608 (GRCm39)		probably null	Het
D7Ertd443e	A	G	7: 133,871,930 (GRCm39)	S644P	probably damaging	Het
Dnlz	A	T	2: 26,241,483 (GRCm39)	C82S	probably damaging	Het
F11	T	C	8: 45,705,184 (GRCm39)	D119G	possibly damaging	Het
Fat3	T	C	9: 15,826,558 (GRCm39)	T4465A	probably benign	Het
Fdxacb1	A	G	9: 50,683,321 (GRCm39)	E428G	probably benign	Het
Fn1	C	T	1: 71,653,102 (GRCm39)	G1296R	probably null	Het
Gm11568	A	G	11: 99,749,070 (GRCm39)	S92G	unknown	Het
Gpr158	A	T	2: 21,831,674 (GRCm39)	M925L	probably benign	Het
Hivep2	T	C	10: 14,008,187 (GRCm39)	M1595T	probably benign	Het
Hoxd1	A	G	2: 74,594,501 (GRCm39)	K252R	probably damaging	Het
Ift88	A	G	14: 57,726,393 (GRCm39)	K684E	possibly damaging	Het
Iqck	G	A	7: 118,498,880 (GRCm39)	D173N	possibly damaging	Het
Kcnc1	A	G	7: 46,077,226 (GRCm39)	N343D	probably damaging	Het
Kifap3	T	A	1: 163,696,327 (GRCm39)	V652D	possibly damaging	Het
Lrig1	A	T	6: 94,585,124 (GRCm39)	D840E	probably damaging	Het
Lrrc7	A	G	3: 157,892,696 (GRCm39)	S318P	probably damaging	Het
Map1b	A	C	13: 99,568,592 (GRCm39)	D1376E	unknown	Het
Marchf1	T	A	8: 66,840,151 (GRCm39)	N311K	probably benign	Het
Mier2	T	C	10: 79,380,368 (GRCm39)	I321V	probably damaging	Het
Mrc1	G	A	2: 14,330,183 (GRCm39)	R1264Q	probably damaging	Het
Nrarp	T	C	2: 25,071,421 (GRCm39)	V100A	possibly damaging	Het
Nt5c1a	T	C	4: 123,109,873 (GRCm39)	F324S	probably damaging	Het
Odad2	C	A	18: 7,223,676 (GRCm39)	G456W	probably benign	Het
Or2t44	T	C	11: 58,677,492 (GRCm39)	V144A	probably benign	Het
Or5d41	A	G	2: 88,055,167 (GRCm39)	F70L	probably benign	Het
Or5g29	G	T	2: 85,420,932 (GRCm39)	G16V	probably damaging	Het
Or6c35	T	C	10: 129,169,326 (GRCm39)	I192T	probably benign	Het
Pcdhb4	C	T	18: 37,441,979 (GRCm39)	L430F	probably damaging	Het
Ptpn2	T	G	18: 67,810,872 (GRCm39)	M256L	probably damaging	Het
Rph3a	C	T	5: 121,111,367 (GRCm39)	R71H	probably damaging	Het
Rrm2b	T	A	15: 37,945,295 (GRCm39)	D148V	possibly damaging	Het
Setx	GTGGCT	GT	2: 29,044,073 (GRCm39)	1814	probably null	Het
Slc12a3	T	A	8: 95,059,915 (GRCm39)	I187N	possibly damaging	Het
Slc46a1	T	G	11: 78,357,249 (GRCm39)	S101A	probably benign	Het
Sned1	T	A	1: 93,209,364 (GRCm39)		probably null	Het
Sult1d1	T	G	5: 87,703,887 (GRCm39)	N266T	probably damaging	Het
Tjp2	G	T	19: 24,090,171 (GRCm39)	H624N	probably benign	Het
Tmcc3	G	A	10: 94,414,777 (GRCm39)	V160I	probably damaging	Het
Tsr1	A	T	11: 74,795,653 (GRCm39)		probably null	Het
Tyrp1	A	T	4: 80,755,771 (GRCm39)	E180V	probably damaging	Het
Ubr3	T	C	2: 69,846,685 (GRCm39)	V1636A	probably benign	Het
Usp1	T	C	4: 98,818,079 (GRCm39)	L139P	probably damaging	Het
Vldlr	A	T	19: 27,225,415 (GRCm39)	T859S	probably damaging	Het
Vmn1r232	A	G	17: 21,134,465 (GRCm39)	L45P	probably benign	Het
Vmn2r94	T	A	17: 18,477,593 (GRCm39)	M273L	probably benign	Het
Zc3h6	T	C	2: 128,856,629 (GRCm39)	Y570H	probably benign	Het
Zhx2	A	G	15: 57,686,565 (GRCm39)	S645G	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
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
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'- TTGACCTACTTTGGGTGCTC -3'
(R):5'- CCAGAGGTTAGTTATGTAGGCG -3'

Sequencing Primer
(F):5'- GACCTACTTTGGGTGCTCAAAATC -3'
(R):5'- TATGTAGGCGCTCTGGGCAAAG -3'

Posted On

2014-10-16