Mutagenetix > Incidental Mutation

Incidental Mutation 'R8142:Atp6v1e2'

632610

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

MMRRC Submission

067570-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.213) question?

Stock #

R8142 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

87251537-87255315 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 87252083 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 105 (I105N)

Ref Sequence

ENSEMBL: ENSMUSP00000065285 (fasta)

Gene Model

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

AlphaFold

Q9D593

Predicted Effect

possibly damaging
Transcript: ENSMUST00000065758
AA Change: I105N

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000065285
Gene: ENSMUSG00000053375
AA Change: I105N

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

Coding Region Coverage

1x: 99.7%
3x: 99.5%
10x: 98.0%
20x: 91.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Azi2	A	G	9: 117,878,475 (GRCm39)	D105G	probably damaging	Het
Bmpr2	T	C	1: 59,909,465 (GRCm39)	S980P	probably damaging	Het
Ccno	T	G	13: 113,125,489 (GRCm39)	L151R	probably damaging	Het
Cdh2	A	C	18: 16,734,791 (GRCm39)	I801S	probably benign	Het
Cyp2f2	G	A	7: 26,828,678 (GRCm39)	V183I	probably benign	Het
Dab1	T	A	4: 104,535,921 (GRCm39)	V110D	probably damaging	Het
Dnah3	T	C	7: 119,660,189 (GRCm39)	T828A	probably benign	Het
Dnah5	G	T	15: 28,384,519 (GRCm39)	V3088L	probably benign	Het
Dtd2	T	A	12: 52,046,593 (GRCm39)	D82V	probably damaging	Het
Dusp5	T	C	19: 53,525,912 (GRCm39)	F185L	probably damaging	Het
Epha10	A	G	4: 124,779,639 (GRCm39)	T162A	probably damaging	Het
Fat4	A	T	3: 38,945,352 (GRCm39)	D1415V	probably damaging	Het
Fitm1	T	C	14: 55,813,247 (GRCm39)	Y37H	possibly damaging	Het
Flg2	G	T	3: 93,122,782 (GRCm39)	E1651*	probably null	Het
Ifit3	G	T	19: 34,564,901 (GRCm39)	C149F	probably damaging	Het
Lepr	C	A	4: 101,622,616 (GRCm39)	H465Q	possibly damaging	Het
Ltn1	A	C	16: 87,178,529 (GRCm39)	S1567A	probably benign	Het
Marchf1	T	C	8: 66,908,778 (GRCm39)	V166A	probably benign	Het
Marveld2	T	C	13: 100,737,448 (GRCm39)	H424R	possibly damaging	Het
Mypop	A	G	7: 18,735,051 (GRCm39)	T383A	unknown	Het
Ngef	G	C	1: 87,468,463 (GRCm39)	R99G	probably benign	Het
Nherf4	A	G	9: 44,162,078 (GRCm39)		probably null	Het
Npepps	G	T	11: 97,109,398 (GRCm39)	A726D	probably damaging	Het
Or6c63-ps1	T	A	10: 128,900,519 (GRCm39)	D9V	probably benign	Het
Pcdhgb4	A	G	18: 37,854,166 (GRCm39)	D187G	probably damaging	Het
Per2	T	C	1: 91,349,269 (GRCm39)	E1034G	possibly damaging	Het
Pira1	A	G	7: 3,739,842 (GRCm39)	S418P	possibly damaging	Het
Pkhd1l1	G	A	15: 44,378,327 (GRCm39)	R1027H	probably benign	Het
Pon2	A	T	6: 5,266,239 (GRCm39)	V260D	probably benign	Het
Rnase13	A	G	14: 52,159,893 (GRCm39)	I82T	probably damaging	Het
Sbno1	A	G	5: 124,546,608 (GRCm39)	S194P	probably benign	Het
Serpinb6c	T	A	13: 34,064,096 (GRCm39)	I320L	probably benign	Het
Sh3rf3	C	T	10: 58,885,205 (GRCm39)	R363*	probably null	Het
Slc11a1	T	C	1: 74,424,418 (GRCm39)	F500L	probably benign	Het
Slc1a4	A	G	11: 20,257,890 (GRCm39)		probably null	Het
Slc1a7	G	A	4: 107,869,473 (GRCm39)	V513M	probably benign	Het
Sorcs2	T	C	5: 36,219,958 (GRCm39)	N362S	possibly damaging	Het
Stau2	A	G	1: 16,530,575 (GRCm39)	S115P	unknown	Het
Stk38l	A	G	6: 146,660,070 (GRCm39)	N34S	probably benign	Het
Tmem201	T	C	4: 149,803,114 (GRCm39)	T585A	probably benign	Het
Ttc6	A	T	12: 57,744,258 (GRCm39)	I1297F	possibly damaging	Het
Uncx	A	G	5: 139,532,655 (GRCm39)	D240G	possibly damaging	Het
Vmn2r88	A	G	14: 51,651,564 (GRCm39)	I293V		Het
Vps11	T	C	9: 44,265,852 (GRCm39)	T476A	probably benign	Het
Vrtn	T	C	12: 84,697,395 (GRCm39)	L715P	probably damaging	Het
Wdr72	T	G	9: 74,046,949 (GRCm39)	V65G	probably damaging	Het
Zbtb21	T	C	16: 97,752,675 (GRCm39)	E536G	probably damaging	Het
Zbtb34	G	T	2: 33,302,493 (GRCm39)	S16*	probably null	Het
Zfhx2	G	A	14: 55,310,895 (GRCm39)	L600F	possibly damaging	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
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

Predicted Primers

PCR Primer
(F):5'- TCAGTTTGGTCAACCTGTACC -3'
(R):5'- TCAACATTGAGAAGGGCCGC -3'

Sequencing Primer
(F):5'- TGGTCAACCTGTACCTCCAAATG -3'
(R):5'- CCTGGTGCAGACCCAGC -3'

Posted On

2020-06-30