Mutagenetix > Incidental Mutation

Incidental Mutation 'R7726:Atp6v1e2'

595524

Institutional Source

Beutler Lab

Gene Symbol

Atp6v1e2

Ensembl Gene

ENSMUSG00000053375

Gene Name

ATPase, H+ transporting, lysosomal V1 subunit E2

Synonyms

E1, Atp6e1, 4930500C14Rik, lysosomal 31kDa

MMRRC Submission

045782-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.174) question?

Stock #

R7726 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

86944109-86947887 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 86944385 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 195 (T195I)

Ref Sequence

ENSEMBL: ENSMUSP00000065285 (fasta)

Gene Model

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

AlphaFold

Q9D593

Predicted Effect

probably damaging
Transcript: ENSMUST00000065758
AA Change: T195I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000065285
Gene: ENSMUSG00000053375
AA Change: T195I

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (65/65)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931408C20Rik	C	A	1: 26,684,498 (GRCm38)	A534S	probably benign	Het
A230050P20Rik	T	C	9: 20,873,165 (GRCm38)	Y182H	possibly damaging	Het
Adam34	T	G	8: 43,651,171 (GRCm38)	N479T	probably damaging	Het
Add3	C	G	19: 53,239,461 (GRCm38)	L526V	probably damaging	Het
Alas1	T	C	9: 106,246,951 (GRCm38)	T3A	probably benign	Het
Arap3	C	T	18: 37,989,467 (GRCm38)	D579N	probably damaging	Het
Armc6	C	A	8: 70,222,598 (GRCm38)	D326Y	probably damaging	Het
Atrnl1	A	G	19: 57,702,072 (GRCm38)	E904G	probably damaging	Het
Bhlhe40	T	A	6: 108,662,598 (GRCm38)	D112E	probably benign	Het
Brf1	T	G	12: 112,964,245 (GRCm38)	K438T	probably benign	Het
Cabs1	A	T	5: 87,980,286 (GRCm38)	E265D	probably damaging	Het
Ccdc162	T	A	10: 41,553,075 (GRCm38)	M1937L	probably benign	Het
Cd55b	A	T	1: 130,411,493 (GRCm38)	S299R	possibly damaging	Het
Chordc1	A	G	9: 18,302,214 (GRCm38)	*120W	probably null	Het
Col17a1	C	A	19: 47,655,190 (GRCm38)		probably null	Het
Cpne8	A	T	15: 90,501,418 (GRCm38)	I469K	possibly damaging	Het
Crtac1	G	T	19: 42,302,251 (GRCm38)	S337*	probably null	Het
Cx3cl1	T	C	8: 94,780,239 (GRCm38)	S291P	probably damaging	Het
Dhx36	G	T	3: 62,488,968 (GRCm38)	Q423K	probably benign	Het
Eif3h	G	T	15: 51,786,823 (GRCm38)	Q322K	possibly damaging	Het
Ero1lb	A	G	13: 12,605,833 (GRCm38)	*494W	probably null	Het
Exph5	G	A	9: 53,373,175 (GRCm38)	V519I	possibly damaging	Het
Fam184a	C	A	10: 53,633,706 (GRCm38)	E126*	probably null	Het
Fam208a	C	A	14: 27,447,497 (GRCm38)	N338K	probably damaging	Het
Fam222b	A	G	11: 78,153,751 (GRCm38)	D46G	probably damaging	Het
Fbxl6	C	A	15: 76,535,886 (GRCm38)	R509L	probably damaging	Het
Fgf14	T	C	14: 124,136,244 (GRCm38)	Y86C	probably damaging	Het
Fras1	A	T	5: 96,712,451 (GRCm38)	I2119F	probably benign	Het
Gm14085	A	G	2: 122,486,733 (GRCm38)	E25G	probably damaging	Het
Gpr37	G	A	6: 25,669,117 (GRCm38)	T576I	possibly damaging	Het
Hnrnpul2	G	T	19: 8,831,280 (GRCm38)	R702L	possibly damaging	Het
Iqgap1	T	C	7: 80,757,456 (GRCm38)	N342S	probably benign	Het
Kcnh6	T	C	11: 106,017,575 (GRCm38)	V339A	probably benign	Het
Klk1b9	A	T	7: 43,978,416 (GRCm38)	N46I	possibly damaging	Het
Kndc1	C	A	7: 139,939,838 (GRCm38)	S1703R	possibly damaging	Het
Lyn	C	A	4: 3,756,428 (GRCm38)	Y306*	probably null	Het
Manba	C	T	3: 135,518,009 (GRCm38)	T219M	probably benign	Het
Mastl	T	C	2: 23,140,795 (GRCm38)		probably null	Het
Med15	T	G	16: 17,655,174 (GRCm38)	M550L	possibly damaging	Het
Men1	G	A	19: 6,337,282 (GRCm38)		probably null	Het
Mettl11b	A	G	1: 163,703,184 (GRCm38)	C229R	probably benign	Het
Msh4	C	T	3: 153,866,320 (GRCm38)		probably null	Het
Myh6	G	T	14: 54,965,365 (GRCm38)	D32E	probably damaging	Het
Ntn4	A	G	10: 93,733,682 (GRCm38)	D419G	possibly damaging	Het
Nup155	C	T	15: 8,122,139 (GRCm38)	P393S	probably damaging	Het
Olfr1389	T	A	11: 49,430,900 (GRCm38)	C141*	probably null	Het
Olfr1415	A	T	1: 92,491,307 (GRCm38)	F149L	probably benign	Het
Palm2	C	T	4: 57,709,876 (GRCm38)	P274S	probably damaging	Het
Papss2	A	T	19: 32,634,003 (GRCm38)		probably null	Het
Pcdhgc3	T	C	18: 37,806,879 (GRCm38)	V111A	possibly damaging	Het
Pcnx2	C	T	8: 125,850,330 (GRCm38)	V988I	probably benign	Het
Pom121	C	T	5: 135,378,148 (GRCm38)	G1178S	probably damaging	Het
Prss33	A	G	17: 23,834,229 (GRCm38)	C213R	probably damaging	Het
Scap	G	A	9: 110,378,367 (GRCm38)		probably null	Het
Sirpb1c	T	A	3: 15,848,386 (GRCm38)	I10F	possibly damaging	Het
Spink5	T	C	18: 43,963,352 (GRCm38)	L16P	probably damaging	Het
Stk4	T	G	2: 164,110,226 (GRCm38)	M1R	probably null	Het
Stub1	A	T	17: 25,831,132 (GRCm38)	Y253*	probably null	Het
Tbce	A	G	13: 14,029,290 (GRCm38)	V29A	probably damaging	Het
Tchhl1	A	G	3: 93,471,758 (GRCm38)	R590G	probably benign	Het
Tmem173	C	T	18: 35,735,265 (GRCm38)	A261T	probably damaging	Het
Ubr4	C	T	4: 139,458,920 (GRCm38)	P613L	unknown	Het
Vmn2r3	G	T	3: 64,275,518 (GRCm38)	C253*	probably null	Het
Wfdc8	C	A	2: 164,599,986 (GRCm38)	E215D	possibly damaging	Het
Zfp874b	T	C	13: 67,473,856 (GRCm38)	D441G	probably benign	Het
Zscan4d	G	T	7: 11,165,242 (GRCm38)	P36Q	possibly damaging	Het

Other mutations in Atp6v1e2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01593:Atp6v1e2	APN	17	86,944,299 (GRCm38)	missense	probably damaging	1.00
IGL02016:Atp6v1e2	APN	17	86,944,394 (GRCm38)	missense	probably damaging	1.00
IGL02706:Atp6v1e2	APN	17	86,944,934 (GRCm38)	missense	probably damaging	1.00
R0505:Atp6v1e2	UTSW	17	86,944,578 (GRCm38)	missense	probably benign	0.04
R4749:Atp6v1e2	UTSW	17	86,944,707 (GRCm38)	missense	probably benign	0.10
R4819:Atp6v1e2	UTSW	17	86,944,538 (GRCm38)	missense	probably benign	0.38
R5829:Atp6v1e2	UTSW	17	86,944,716 (GRCm38)	missense	probably benign	0.01
R7010:Atp6v1e2	UTSW	17	86,944,345 (GRCm38)	missense	probably benign	0.05
R8142:Atp6v1e2	UTSW	17	86,944,655 (GRCm38)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- CTGCAGAGGAAGATGACACC -3'
(R):5'- AGCCTGTGATGATTGTCCG -3'

Sequencing Primer
(F):5'- GAGGAAGATGACACCCCACC -3'
(R):5'- ATGATTGTCCGCTGCCG -3'

Posted On

2019-11-12