Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02706:Atp6v1e2'

304324

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: 0.213) question?

Stock #

IGL02706

Quality Score

Status

Chromosome

Chromosomal Location

87251537-87255315 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 87252362 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 12 (I12T)

Ref Sequence

ENSEMBL: ENSMUSP00000065285 (fasta)

Gene Model

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

AlphaFold

Q9D593

Predicted Effect

probably damaging
Transcript: ENSMUST00000065758
AA Change: I12T

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

SMART Domains

Protein: ENSMUSP00000065285
Gene: ENSMUSG00000053375
AA Change: I12T

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	T	C	17: 24,517,966 (GRCm39)	E781G	probably benign	Het
Abcc8	C	T	7: 45,816,345 (GRCm39)	R265Q	probably benign	Het
Agtr1b	A	T	3: 20,370,027 (GRCm39)	I193N	probably benign	Het
Cacna1g	T	C	11: 94,347,818 (GRCm39)	T757A	probably damaging	Het
Cldn15	A	G	5: 137,003,685 (GRCm39)	K200R	probably benign	Het
Dip2b	G	T	15: 100,113,192 (GRCm39)	V1302F	probably damaging	Het
Dnajb6	T	A	5: 29,957,421 (GRCm39)	Y68N	probably damaging	Het
Dok1	T	A	6: 83,009,315 (GRCm39)	E179V	probably damaging	Het
Epha4	T	C	1: 77,403,482 (GRCm39)	T342A	probably damaging	Het
Etf1	A	T	18: 35,064,690 (GRCm39)	S6R	possibly damaging	Het
Fryl	T	C	5: 73,250,506 (GRCm39)	I987V	probably benign	Het
Gba2	C	T	4: 43,567,257 (GRCm39)	G897S	probably benign	Het
Habp2	G	T	19: 56,298,570 (GRCm39)		probably null	Het
Hapln1	G	T	13: 89,753,578 (GRCm39)	S248I	possibly damaging	Het
Hydin	A	G	8: 111,137,198 (GRCm39)	D667G	probably damaging	Het
Kcnma1	T	A	14: 23,359,222 (GRCm39)	H1074L	probably damaging	Het
Kctd9	T	C	14: 67,962,130 (GRCm39)		probably null	Het
L3mbtl4	A	G	17: 68,793,914 (GRCm39)	D306G	probably damaging	Het
Lgalsl	T	C	11: 20,780,090 (GRCm39)	R49G	probably damaging	Het
Lpo	C	T	11: 87,708,599 (GRCm39)	S133N	probably benign	Het
Lrp8	A	T	4: 107,660,516 (GRCm39)	R59*	probably null	Het
Mctp1	T	C	13: 76,971,188 (GRCm39)	F629S	probably damaging	Het
Med1	A	G	11: 98,047,533 (GRCm39)		probably benign	Het
Nbea	T	C	3: 55,944,699 (GRCm39)	H555R	probably damaging	Het
Nedd1	T	C	10: 92,522,147 (GRCm39)	H630R	possibly damaging	Het
Nr3c2	A	T	8: 77,635,045 (GRCm39)		probably null	Het
Nubp2	A	T	17: 25,102,171 (GRCm39)	V267E	probably benign	Het
Oacyl	A	T	18: 65,882,792 (GRCm39)	Y629F	probably damaging	Het
Or1n1b	A	G	2: 36,780,731 (GRCm39)	I43T	probably damaging	Het
Or1x2	T	A	11: 50,918,091 (GRCm39)	H87Q	probably damaging	Het
Or5b119	A	T	19: 13,457,462 (GRCm39)	Y33*	probably null	Het
Pknox2	T	C	9: 36,847,675 (GRCm39)	H114R	probably benign	Het
Ppp2r1b	A	G	9: 50,790,134 (GRCm39)	D564G	possibly damaging	Het
Ppp3ca	T	G	3: 136,611,079 (GRCm39)	N367K	possibly damaging	Het
Ptprn2	T	C	12: 116,852,518 (GRCm39)	V525A	probably damaging	Het
Reps1	T	G	10: 17,998,763 (GRCm39)		probably benign	Het
Rgs11	G	A	17: 26,426,605 (GRCm39)	V279I	probably benign	Het
Sipa1l1	A	G	12: 82,444,207 (GRCm39)	I973V	possibly damaging	Het
Ssh2	T	A	11: 77,344,232 (GRCm39)	V739D	possibly damaging	Het
Tbc1d24	A	G	17: 24,404,395 (GRCm39)	F250L	probably benign	Het
Ube3a	T	A	7: 58,921,881 (GRCm39)	H84Q	possibly damaging	Het
Usp34	T	C	11: 23,338,659 (GRCm39)		probably benign	Het
Zdhhc8	G	T	16: 18,042,758 (GRCm39)	L481I	probably damaging	Het
Zfp574	A	G	7: 24,780,790 (GRCm39)	H604R	probably damaging	Het
Zfp945	A	T	17: 23,076,256 (GRCm39)	M63K	probably 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
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

2015-04-16