Mutagenetix > Incidental Mutation

Incidental Mutation 'R5829:Atp6v1e2'

450340

Institutional Source

Beutler Lab

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: 0.213) question?

Stock #

R5829 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

87251537-87255315 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 87252144 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 85 (R85G)

Ref Sequence

ENSEMBL: ENSMUSP00000065285 (fasta)

Gene Model

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

AlphaFold

Q9D593

Predicted Effect

probably benign
Transcript: ENSMUST00000065758
AA Change: R85G

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000065285
Gene: ENSMUSG00000053375
AA Change: R85G

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	C	A	11: 109,868,639 (GRCm39)	G175V	probably damaging	Het
Bmpr1b	T	C	3: 141,550,918 (GRCm39)	H391R	probably benign	Het
Camsap3	A	G	8: 3,647,899 (GRCm39)	H69R	probably damaging	Het
Cimip2a	G	A	2: 25,108,869 (GRCm39)		probably null	Het
Col12a1	C	T	9: 79,540,955 (GRCm39)	G2391R	probably damaging	Het
Dab2ip	ATCCT	ATCCTCCT	2: 35,597,787 (GRCm39)		probably benign	Het
Epha4	G	A	1: 77,421,631 (GRCm39)	L284F	probably benign	Het
Fat4	T	C	3: 39,061,454 (GRCm39)	S4346P	probably damaging	Het
Fbxo22	T	A	9: 55,125,596 (GRCm39)		probably null	Het
Gcc1	C	A	6: 28,419,690 (GRCm39)		probably benign	Het
Gdf10	T	C	14: 33,654,674 (GRCm39)	S394P	probably damaging	Het
Gdf9	C	T	11: 53,324,516 (GRCm39)	T95M	probably benign	Het
Gpr179	G	A	11: 97,226,524 (GRCm39)	S1877L	probably benign	Het
Gtf2i	A	G	5: 134,292,547 (GRCm39)	V380A	probably damaging	Het
Il17c	G	A	8: 123,148,970 (GRCm39)	R38Q	probably damaging	Het
Il17rd	G	A	14: 26,814,042 (GRCm39)		probably null	Het
Iqch	C	T	9: 63,332,639 (GRCm39)		probably null	Het
Lrrc37	C	T	11: 103,432,712 (GRCm39)	E1310K	possibly damaging	Het
Mpp4	A	T	1: 59,168,101 (GRCm39)	S456R	probably damaging	Het
Nek10	T	C	14: 14,865,404 (GRCm38)	Y601H	probably damaging	Het
Nrxn2	C	T	19: 6,540,879 (GRCm39)	P936L	probably benign	Het
Or8b44	T	A	9: 38,410,545 (GRCm39)	Y193*	probably null	Het
Pcdhb9	T	C	18: 37,534,942 (GRCm39)	V312A	probably damaging	Het
Pex5l	T	C	3: 33,060,139 (GRCm39)	T211A	probably benign	Het
Pik3c2a	T	C	7: 115,972,049 (GRCm39)	T794A	probably benign	Het
Pla2g6	A	G	15: 79,171,893 (GRCm39)	F710L	possibly damaging	Het
Repin1	A	T	6: 48,571,766 (GRCm39)		probably benign	Het
Rev3l	A	T	10: 39,682,902 (GRCm39)	E340V	probably damaging	Het
Ryr3	A	G	2: 112,690,076 (GRCm39)	S1158P	probably damaging	Het
S100a16	A	T	3: 90,449,454 (GRCm39)	Q43L	possibly damaging	Het
Scg2	A	G	1: 79,414,637 (GRCm39)	S29P	probably damaging	Het
Sfrp5	T	C	19: 42,190,095 (GRCm39)	Y119C	probably damaging	Het
Sh3tc2	A	G	18: 62,123,986 (GRCm39)	T916A	probably benign	Het
Smpd3	A	G	8: 106,991,512 (GRCm39)	V347A	probably benign	Het
Tmem212	C	A	3: 27,939,081 (GRCm39)	C135F	possibly damaging	Het
Unc13c	T	A	9: 73,600,650 (GRCm39)	N1365Y	probably benign	Het
Usp13	G	T	3: 32,940,672 (GRCm39)	G395C	possibly damaging	Het
Vmn2r68	T	C	7: 84,886,812 (GRCm39)	N34S	probably benign	Het

Other mutations in Atp6v1e2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01593:Atp6v1e2	APN	17	87,251,727 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- TACTGAGGGATGGCTCTTAGC -3'
(R):5'- TCAAGCACATGATGGCGTTC -3'

Sequencing Primer
(F):5'- GCTCTTAGCACCGCAGACTC -3'
(R):5'- ATGGCGTTCATCGAGCAG -3'

Posted On

2016-12-20