Mutagenetix > Incidental Mutation

Incidental Mutation 'R4127:Atp6ap1l'

315453

Institutional Source

Beutler Lab

Gene Symbol

Atp6ap1l

Ensembl Gene

ENSMUSG00000078958

Gene Name

ATPase, H+ transporting, lysosomal accessory protein 1-like

Synonyms

EG435376

MMRRC Submission

040860-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R4127 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

91031558-91053478 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 91046826 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 117 (D117G)

Ref Sequence

ENSEMBL: ENSMUSP00000105168 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000109541] [ENSMUST00000182446]

AlphaFold

D3Z5W0

Predicted Effect

probably damaging
Transcript: ENSMUST00000109541
AA Change: D117G

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000105168
Gene: ENSMUSG00000078958
AA Change: D117G

Domain	Start	End	E-Value	Type
Pfam:Lamp	19	287	2.4e-12	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000182104
AA Change: D39G

Predicted Effect

probably benign
Transcript: ENSMUST00000182446

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182932

Predicted Effect

unknown
Transcript: ENSMUST00000183162
AA Change: D79G

Coding Region Coverage

1x: 99.4%
3x: 98.6%
10x: 97.1%
20x: 94.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,141,973 (GRCm39)	H3R	probably benign	Het
Actg2	A	T	6: 83,499,866 (GRCm39)	F128Y	possibly damaging	Het
Ankrd6	G	A	4: 32,822,241 (GRCm39)	T176M	probably damaging	Het
Cd209b	A	G	8: 3,968,714 (GRCm39)	I284T	probably damaging	Het
Cfl2	C	T	12: 54,908,143 (GRCm39)	A123T	probably benign	Het
Cgnl1	T	C	9: 71,631,822 (GRCm39)	T510A	probably benign	Het
Chn2	G	T	6: 54,249,963 (GRCm39)	R24M	probably damaging	Het
Cyfip2	T	C	11: 46,161,474 (GRCm39)	I339V	probably benign	Het
Etl4	C	T	2: 20,748,886 (GRCm39)	P539L	possibly damaging	Het
Fras1	A	G	5: 96,918,512 (GRCm39)	D3516G	probably benign	Het
Frem2	T	C	3: 53,433,317 (GRCm39)	Y2669C	probably damaging	Het
Gga2	G	T	7: 121,601,943 (GRCm39)	H205N	probably damaging	Het
Gm5592	G	A	7: 40,938,491 (GRCm39)	G591D	probably benign	Het
Gtf3c1	A	T	7: 125,246,622 (GRCm39)	C1562*	probably null	Het
Heatr3	T	A	8: 88,864,939 (GRCm39)	C59S	probably damaging	Het
Heatr5b	A	G	17: 79,060,603 (GRCm39)	M2024T	possibly damaging	Het
Jarid2	T	C	13: 45,055,732 (GRCm39)	S313P	probably damaging	Het
Lzts3	A	G	2: 130,477,285 (GRCm39)	S502P	probably damaging	Het
Or5d36	A	G	2: 87,901,579 (GRCm39)	V49A	probably benign	Het
Pcdhb2	A	T	18: 37,428,594 (GRCm39)	D189V	probably damaging	Het
Pias3	G	T	3: 96,606,982 (GRCm39)	G82C	probably damaging	Het
Polg	T	C	7: 79,105,285 (GRCm39)	E753G	probably damaging	Het
Pus10	T	C	11: 23,668,654 (GRCm39)		probably null	Het
Pxn	A	G	5: 115,684,966 (GRCm39)	R264G	probably damaging	Het
Rag1	A	G	2: 101,472,416 (GRCm39)	Y909H	probably damaging	Het
Rell2	A	G	18: 38,091,267 (GRCm39)	H144R	probably benign	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Ryr2	C	T	13: 11,602,323 (GRCm39)	V4520I	possibly damaging	Het
Scp2	A	G	4: 107,921,181 (GRCm39)	F10L	probably benign	Het
Slc9b2	T	C	3: 135,035,598 (GRCm39)	Y356H	probably benign	Het
Sorcs1	T	C	19: 50,210,597 (GRCm39)	D756G	probably benign	Het
Stra6	T	A	9: 58,058,501 (GRCm39)	V454E	probably damaging	Het
Tbc1d8	T	C	1: 39,411,512 (GRCm39)	N1108S	probably benign	Het
Tep1	C	T	14: 51,081,191 (GRCm39)	R1349Q	possibly damaging	Het
Tmem132d	T	C	5: 128,345,884 (GRCm39)	R213G	probably benign	Het
Ubash3a	T	C	17: 31,456,249 (GRCm39)	Y506H	probably damaging	Het
Xcr1	A	C	9: 123,685,561 (GRCm39)	V67G	probably damaging	Het
Zranb2	C	A	3: 157,243,227 (GRCm39)	C74*	probably null	Het

Other mutations in Atp6ap1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02823:Atp6ap1l	APN	13	91,047,644 (GRCm39)	missense	probably benign	0.00
R0545:Atp6ap1l	UTSW	13	91,031,782 (GRCm39)	missense	probably benign	0.03
R1224:Atp6ap1l	UTSW	13	91,034,675 (GRCm39)	nonsense	probably null
R1425:Atp6ap1l	UTSW	13	91,047,638 (GRCm39)	missense	possibly damaging	0.69
R1453:Atp6ap1l	UTSW	13	91,046,866 (GRCm39)	missense	probably benign	0.36
R1784:Atp6ap1l	UTSW	13	91,053,400 (GRCm39)	missense	probably damaging	0.96
R1853:Atp6ap1l	UTSW	13	91,031,707 (GRCm39)	missense	probably damaging	1.00
R1854:Atp6ap1l	UTSW	13	91,031,707 (GRCm39)	missense	probably damaging	1.00
R1932:Atp6ap1l	UTSW	13	91,031,806 (GRCm39)	missense	probably damaging	1.00
R5123:Atp6ap1l	UTSW	13	91,047,017 (GRCm39)	intron	probably benign
R5352:Atp6ap1l	UTSW	13	91,031,875 (GRCm39)	missense	probably damaging	1.00
R5746:Atp6ap1l	UTSW	13	91,031,698 (GRCm39)	missense	probably benign
R6492:Atp6ap1l	UTSW	13	91,031,841 (GRCm39)	missense	probably damaging	1.00
R6687:Atp6ap1l	UTSW	13	91,034,842 (GRCm39)	missense	probably benign	0.09
R7150:Atp6ap1l	UTSW	13	91,031,848 (GRCm39)	missense	probably damaging	1.00
R7358:Atp6ap1l	UTSW	13	91,031,926 (GRCm39)	missense	probably damaging	1.00
R7595:Atp6ap1l	UTSW	13	91,039,135 (GRCm39)	missense	probably damaging	1.00
R8912:Atp6ap1l	UTSW	13	91,046,979 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- AACTTTCACTTTTAAAGCCTACAGA -3'
(R):5'- TCCAAGGACACAAATTTGTCTCTAA -3'

Sequencing Primer
(F):5'- GCTCAGACAAAATGTGCTTGTTGAG -3'
(R):5'- AGCCATCACAACCCTGTT -3'

Posted On

2015-05-14