Mutagenetix > Incidental Mutation

Incidental Mutation 'R5123:Atp6ap1l'

393414

Institutional Source

Beutler Lab

Gene Symbol

Atp6ap1l

Ensembl Gene

ENSMUSG00000078958

Gene Name

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

Synonyms

EG435376

MMRRC Submission

042711-MU

Accession Numbers

Essential gene?

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

Stock #

R5123 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

91031558-91053478 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to A at 91047017 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

D3Z5W0

Predicted Effect

probably benign
Transcript: ENSMUST00000109541

SMART Domains

Protein: ENSMUSP00000105168
Gene: ENSMUSG00000078958

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

Predicted Effect

probably benign
Transcript: ENSMUST00000182104

Predicted Effect

probably benign
Transcript: ENSMUST00000182446

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182932

Predicted Effect

probably benign
Transcript: ENSMUST00000183162

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.5%

Validation Efficiency

98% (53/54)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	G	A	17: 24,603,434 (GRCm39)	G542D	possibly damaging	Het
Adh6b	A	G	3: 138,063,450 (GRCm39)	Y343C	probably damaging	Het
Adsl	T	A	15: 80,836,495 (GRCm39)		probably null	Het
Apob	T	A	12: 8,057,630 (GRCm39)		probably null	Het
Cacnb3	A	G	15: 98,537,750 (GRCm39)	D74G	probably damaging	Het
Cfap251	A	G	5: 123,411,696 (GRCm39)		probably benign	Het
Clca3a2	T	A	3: 144,512,104 (GRCm39)	D544V	probably damaging	Het
Col3a1	G	A	1: 45,372,756 (GRCm39)		probably benign	Het
D7Ertd443e	A	G	7: 133,951,397 (GRCm39)		probably null	Het
Dscam	T	C	16: 96,573,637 (GRCm39)	D775G	probably damaging	Het
Eif2b3	T	A	4: 116,879,408 (GRCm39)	M16K	probably damaging	Het
Eml5	T	C	12: 98,840,771 (GRCm39)	Y281C	probably damaging	Het
Epha2	T	A	4: 141,036,176 (GRCm39)	L204Q	possibly damaging	Het
Filip1l	A	C	16: 57,391,025 (GRCm39)	I538L	possibly damaging	Het
Gcnt2	T	A	13: 41,071,831 (GRCm39)	V158D	probably damaging	Het
Gnaq	A	G	19: 16,309,449 (GRCm39)	N162S	probably benign	Het
Haus5	A	T	7: 30,353,651 (GRCm39)	N575K	probably benign	Het
Hjurp	A	T	1: 88,202,772 (GRCm39)	Y71N	possibly damaging	Het
Igsf5	A	G	16: 96,174,279 (GRCm39)	D103G	probably damaging	Het
Myo10	A	G	15: 25,726,569 (GRCm39)	D297G	possibly damaging	Het
Net1	C	T	13: 3,936,623 (GRCm39)	R314H	probably damaging	Het
Or4b1c	C	A	2: 90,126,512 (GRCm39)	R231L	probably benign	Het
Or4k51	T	A	2: 111,584,897 (GRCm39)	V101D	probably damaging	Het
Pcsk4	C	A	10: 80,157,979 (GRCm39)	Q586H	probably null	Het
Pramel11	A	T	4: 143,623,706 (GRCm39)	M156K	probably benign	Het
Prss1	A	G	6: 41,440,131 (GRCm39)	D156G	possibly damaging	Het
Rnf133	A	T	6: 23,649,259 (GRCm39)	N266K	probably damaging	Het
Setd2	G	T	9: 110,446,595 (GRCm39)	A2482S	possibly damaging	Het
Sgo2a	A	T	1: 58,055,726 (GRCm39)	S637C	probably damaging	Het
Slc2a5	C	A	4: 150,224,262 (GRCm39)	S290*	probably null	Het
Spata6	T	G	4: 111,625,992 (GRCm39)	H120Q	possibly damaging	Het
Stk11	G	A	10: 79,963,775 (GRCm39)	V194I	probably damaging	Het
Tkt	T	C	14: 30,287,603 (GRCm39)	V199A	probably benign	Het
Traf3	G	A	12: 111,209,952 (GRCm39)	V183M	possibly damaging	Het
Trappc11	T	C	8: 47,966,437 (GRCm39)	Y483C	probably damaging	Het
Trappc9	T	C	15: 72,785,215 (GRCm39)		probably benign	Het
Trim59	T	C	3: 68,945,067 (GRCm39)	H91R	probably benign	Het
Ttc21a	A	G	9: 119,781,278 (GRCm39)	S484G	probably benign	Het
Usp13	A	T	3: 32,969,947 (GRCm39)	H691L	probably benign	Het
Vmn1r238	T	C	18: 3,123,243 (GRCm39)	Y57C	probably benign	Het
Vmn2r111	T	A	17: 22,790,124 (GRCm39)	Q294L	possibly damaging	Het
Vmn2r17	A	G	5: 109,575,774 (GRCm39)	D215G	possibly damaging	Het
Zfp280b	A	G	10: 75,875,183 (GRCm39)	D354G	probably benign	Het
Zfp607a	A	G	7: 27,578,523 (GRCm39)	H531R	probably damaging	Het
Zfp74	A	T	7: 29,634,158 (GRCm39)	C517S	probably damaging	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
R4127:Atp6ap1l	UTSW	13	91,046,826 (GRCm39)	missense	probably damaging	0.98
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'- CAGTTAGAGTTGCCAGTGTCC -3'
(R):5'- ATTATCTGGGAACTCACTGCTC -3'

Sequencing Primer
(F):5'- GTCCACTGTAGTATTCTGACCAAGTG -3'
(R):5'- GGGAACTCACTGCTCTCTCCTG -3'

Posted On

2016-06-15