Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01593:Atp6v1e2'

91650

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Atp6v1e2

Ensembl Gene

ENSMUSG00000053375

Gene Name

ATPase, H+ transporting, lysosomal V1 subunit E2

Synonyms

4930500C14Rik, lysosomal 31kDa, Atp6e1, E1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.204) question?

Stock #

IGL01593

Quality Score

Status

Chromosome

Chromosomal Location

87251537-87255315 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 87251727 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 224 (F224I)

Ref Sequence

ENSEMBL: ENSMUSP00000065285 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065758]

AlphaFold

Q9D593

Predicted Effect

probably damaging
Transcript: ENSMUST00000065758
AA Change: F224I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000065285
Gene: ENSMUSG00000053375
AA Change: F224I

Domain	Start	End	E-Value	Type
Pfam:vATP-synt_E	18	216	1e-67	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	A	T	8: 87,284,279 (GRCm39)	I310N	probably damaging	Het
Abtb3	T	A	10: 85,490,339 (GRCm39)		probably benign	Het
Ackr4	C	T	9: 103,963,130 (GRCm39)		probably benign	Het
Ankib1	A	T	5: 3,782,590 (GRCm39)	D346E	probably benign	Het
Asap2	G	T	12: 21,263,203 (GRCm39)	A273S	probably null	Het
Atp6v0d2	C	A	4: 19,881,436 (GRCm39)	R219L	probably damaging	Het
Bnc2	T	C	4: 84,194,478 (GRCm39)		probably null	Het
Cd33	A	G	7: 43,179,705 (GRCm39)	L241P	possibly damaging	Het
Clec4g	A	T	8: 3,769,474 (GRCm39)		probably null	Het
Dym	C	T	18: 75,247,852 (GRCm39)		probably benign	Het
Enpp5	A	G	17: 44,391,612 (GRCm39)	T14A	probably benign	Het
Ggt1	T	C	10: 75,421,121 (GRCm39)		probably null	Het
Gm17541	T	A	12: 4,739,868 (GRCm39)		probably benign	Het
Gpr39	A	T	1: 125,605,188 (GRCm39)	I39F	probably benign	Het
Kcnb1	G	T	2: 166,948,127 (GRCm39)	F240L	probably damaging	Het
Kcnt1	T	A	2: 25,788,766 (GRCm39)	V400E	probably damaging	Het
Klhdc7a	A	G	4: 139,694,125 (GRCm39)	I274T	probably damaging	Het
Lrwd1	A	T	5: 136,163,483 (GRCm39)	L71Q	probably damaging	Het
Mycbp2	A	T	14: 103,528,723 (GRCm39)		probably null	Het
Nckap1	A	T	2: 80,350,914 (GRCm39)	M725K	probably benign	Het
Odad2	T	C	18: 7,127,345 (GRCm39)	K956R	probably benign	Het
Or2b7	T	A	13: 21,739,389 (GRCm39)	I268F	probably damaging	Het
Pole2	C	T	12: 69,269,873 (GRCm39)		probably null	Het
Prss32	A	G	17: 24,074,982 (GRCm39)	T111A	probably benign	Het
Rgs9	A	G	11: 109,139,875 (GRCm39)		probably benign	Het
Slc2a4	A	G	11: 69,835,654 (GRCm39)	C361R	probably damaging	Het
Ston1	G	A	17: 88,944,438 (GRCm39)	G615R	probably null	Het
Tas2r139	T	G	6: 42,117,891 (GRCm39)	W8G	probably benign	Het
Tmem101	A	T	11: 102,046,704 (GRCm39)	L55Q	probably damaging	Het
Tnni3k	T	C	3: 154,646,666 (GRCm39)		probably null	Het
Uba2	A	G	7: 33,845,689 (GRCm39)	V478A	probably damaging	Het
Vps13a	T	C	19: 16,739,545 (GRCm39)	D52G	probably damaging	Het

Other mutations in Atp6v1e2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02016:Atp6v1e2	APN	17	87,251,822 (GRCm39)	missense	probably damaging	1.00
IGL02706:Atp6v1e2	APN	17	87,252,362 (GRCm39)	missense	probably damaging	1.00
R0505:Atp6v1e2	UTSW	17	87,252,006 (GRCm39)	missense	probably benign	0.04
R4749:Atp6v1e2	UTSW	17	87,252,135 (GRCm39)	missense	probably benign	0.10
R4819:Atp6v1e2	UTSW	17	87,251,966 (GRCm39)	missense	probably benign	0.38
R5829:Atp6v1e2	UTSW	17	87,252,144 (GRCm39)	missense	probably benign	0.01
R7010:Atp6v1e2	UTSW	17	87,251,773 (GRCm39)	missense	probably benign	0.05
R7726:Atp6v1e2	UTSW	17	87,251,813 (GRCm39)	missense	probably damaging	1.00
R8142:Atp6v1e2	UTSW	17	87,252,083 (GRCm39)	missense	possibly damaging	0.94

Posted On

2013-12-09