Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02006:Atp6v0d2'

183181

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Atp6v0d2

Ensembl Gene

ENSMUSG00000028238

Gene Name

ATPase, H+ transporting, lysosomal V0 subunit D2

Synonyms

1620401A02Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02006

Quality Score

Status

Chromosome

Chromosomal Location

19876838-19922566 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 19878325 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 316 (A316E)

Ref Sequence

ENSEMBL: ENSMUSP00000029900 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029900]

AlphaFold

Q80SY3

Predicted Effect

probably damaging
Transcript: ENSMUST00000029900
AA Change: A316E

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

SMART Domains

Protein: ENSMUSP00000029900
Gene: ENSMUSG00000028238
AA Change: A316E

Domain	Start	End	E-Value	Type
Pfam:vATP-synt_AC39	16	346	6.2e-113	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a null mutation display osteopetrosis and impaired osteoclast maturation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl1	G	A	4: 86,117,582 (GRCm39)	G182S	probably damaging	Het
Akr1b7	A	T	6: 34,392,385 (GRCm39)	N66I	probably benign	Het
Arrdc3	T	A	13: 81,031,893 (GRCm39)	I42N	probably damaging	Het
Atp8a2	A	G	14: 60,094,497 (GRCm39)	V847A	possibly damaging	Het
Ccdc171	A	G	4: 83,713,479 (GRCm39)	N1173D	possibly damaging	Het
Crb2	A	C	2: 37,676,475 (GRCm39)	D152A	probably damaging	Het
Ecm1	T	C	3: 95,641,557 (GRCm39)	E559G	probably damaging	Het
Ephb1	A	G	9: 102,071,971 (GRCm39)		probably null	Het
Fndc11	C	A	2: 180,863,884 (GRCm39)	R230S	probably damaging	Het
Frem1	A	G	4: 82,911,037 (GRCm39)		probably null	Het
Fyco1	G	A	9: 123,658,896 (GRCm39)	Q427*	probably null	Het
Gm17541	A	G	12: 4,739,619 (GRCm39)		probably benign	Het
Gm5431	C	T	11: 48,779,330 (GRCm39)	V809M	probably damaging	Het
Gm7293	A	G	9: 51,534,043 (GRCm39)		noncoding transcript	Het
Ift52	T	C	2: 162,865,289 (GRCm39)	S47P	probably benign	Het
Iqcf6	A	G	9: 106,504,510 (GRCm39)	D58G	probably benign	Het
Itm2b	T	C	14: 73,600,488 (GRCm39)		probably benign	Het
Jakmip1	T	C	5: 37,278,331 (GRCm39)	I536T	probably damaging	Het
Kcnh1	T	G	1: 191,873,323 (GRCm39)	M3R	possibly damaging	Het
Kcnh5	G	T	12: 74,944,322 (GRCm39)	P976T	probably damaging	Het
Layn	G	A	9: 50,968,591 (GRCm39)		probably benign	Het
Lrrc37a	T	A	11: 103,347,317 (GRCm39)	Q3126L	probably damaging	Het
Meioc	A	T	11: 102,565,092 (GRCm39)	D180V	probably damaging	Het
Myo15a	T	A	11: 60,401,954 (GRCm39)	C3066S	probably damaging	Het
Nbeal1	T	C	1: 60,311,418 (GRCm39)		probably null	Het
Negr1	T	C	3: 156,721,810 (GRCm39)		probably benign	Het
Nek1	T	A	8: 61,557,226 (GRCm39)	N940K	probably benign	Het
Nfkbib	A	T	7: 28,465,667 (GRCm39)		probably null	Het
Nol4	T	A	18: 23,054,975 (GRCm39)	T152S	probably damaging	Het
Oas3	G	T	5: 120,907,300 (GRCm39)	R446S	probably benign	Het
Oosp3	C	T	19: 11,676,784 (GRCm39)	L48F	probably damaging	Het
Or2r3	A	G	6: 42,449,025 (GRCm39)	V29A	probably benign	Het
Or2w25	T	C	11: 59,503,985 (GRCm39)	L65P	probably damaging	Het
Pik3ap1	C	A	19: 41,291,032 (GRCm39)	W500L	probably benign	Het
Ppih	A	G	4: 119,168,779 (GRCm39)		probably benign	Het
Ro60	G	T	1: 143,636,084 (GRCm39)		probably benign	Het
Slc7a15	T	C	12: 8,585,508 (GRCm39)		probably null	Het
Srl	T	C	16: 4,315,150 (GRCm39)	E164G	probably benign	Het
Tbx10	C	A	19: 4,048,186 (GRCm39)	T237K	probably damaging	Het
Vwa5b2	T	C	16: 20,415,843 (GRCm39)	V392A	probably damaging	Het
Wfdc5	A	T	2: 164,024,483 (GRCm39)		probably benign	Het
Xirp2	T	C	2: 67,342,306 (GRCm39)	F1516L	possibly damaging	Het
Znfx1	A	G	2: 166,897,683 (GRCm39)	C414R	probably damaging	Het

Other mutations in Atp6v0d2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01593:Atp6v0d2	APN	4	19,881,436 (GRCm39)	missense	probably damaging	1.00
IGL01759:Atp6v0d2	APN	4	19,878,335 (GRCm39)	missense	probably damaging	0.98
IGL02515:Atp6v0d2	APN	4	19,880,063 (GRCm39)	missense	possibly damaging	0.63
IGL03100:Atp6v0d2	APN	4	19,910,586 (GRCm39)	critical splice donor site	probably null
IGL02796:Atp6v0d2	UTSW	4	19,887,324 (GRCm39)	missense	probably damaging	1.00
R0083:Atp6v0d2	UTSW	4	19,880,001 (GRCm39)	splice site	probably benign
R0133:Atp6v0d2	UTSW	4	19,910,578 (GRCm39)	splice site	probably benign
R0371:Atp6v0d2	UTSW	4	19,880,033 (GRCm39)	missense	possibly damaging	0.92
R0845:Atp6v0d2	UTSW	4	19,880,055 (GRCm39)	missense	probably benign	0.02
R1279:Atp6v0d2	UTSW	4	19,878,298 (GRCm39)	missense	probably benign	0.02
R1541:Atp6v0d2	UTSW	4	19,910,645 (GRCm39)	missense	probably damaging	1.00
R1802:Atp6v0d2	UTSW	4	19,922,366 (GRCm39)	critical splice donor site	probably null
R3417:Atp6v0d2	UTSW	4	19,888,829 (GRCm39)	unclassified	probably benign
R3833:Atp6v0d2	UTSW	4	19,922,395 (GRCm39)	missense	probably damaging	1.00
R3884:Atp6v0d2	UTSW	4	19,910,677 (GRCm39)	missense	probably damaging	1.00
R5158:Atp6v0d2	UTSW	4	19,878,292 (GRCm39)	missense	probably damaging	1.00
R6284:Atp6v0d2	UTSW	4	19,922,605 (GRCm39)	splice site	probably null
R7290:Atp6v0d2	UTSW	4	19,880,060 (GRCm39)	missense	probably benign	0.44
R7341:Atp6v0d2	UTSW	4	19,887,330 (GRCm39)	missense	possibly damaging	0.46
R7832:Atp6v0d2	UTSW	4	19,922,400 (GRCm39)	missense	probably benign	0.18
R8231:Atp6v0d2	UTSW	4	19,881,451 (GRCm39)	missense	probably damaging	1.00
R8757:Atp6v0d2	UTSW	4	19,910,649 (GRCm39)	missense	probably benign
R8759:Atp6v0d2	UTSW	4	19,910,649 (GRCm39)	missense	probably benign
R8811:Atp6v0d2	UTSW	4	19,922,397 (GRCm39)	missense	probably benign	0.05
R9227:Atp6v0d2	UTSW	4	19,878,374 (GRCm39)	missense	probably benign
R9334:Atp6v0d2	UTSW	4	19,890,695 (GRCm39)	missense	probably damaging	1.00
R9378:Atp6v0d2	UTSW	4	19,922,377 (GRCm39)	missense	probably benign	0.02
R9716:Atp6v0d2	UTSW	4	19,890,834 (GRCm39)	missense	probably benign

Posted On

2014-05-07