Mutagenetix > Incidental Mutation

Incidental Mutation 'R1453:Atp6ap1l'

161625

Institutional Source

Beutler Lab

Gene Symbol

Atp6ap1l

Ensembl Gene

ENSMUSG00000078958

Gene Name

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

Synonyms

EG435376

MMRRC Submission

039508-MU

Accession Numbers

Essential gene?

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

Stock #

R1453 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

91031558-91053478 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 91046866 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 104 (T104S)

Ref Sequence

ENSEMBL: ENSMUSP00000105168 (fasta)

Gene Model

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

AlphaFold

D3Z5W0

Predicted Effect

probably benign
Transcript: ENSMUST00000109541
AA Change: T104S

PolyPhen 2 Score 0.358 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000105168
Gene: ENSMUSG00000078958
AA Change: T104S

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

Predicted Effect

unknown
Transcript: ENSMUST00000182104
AA Change: T26S

Predicted Effect

probably benign
Transcript: ENSMUST00000182446

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182932

Predicted Effect

unknown
Transcript: ENSMUST00000183162
AA Change: T66S

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.5%
20x: 90.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	G	3: 121,862,763 (GRCm39)	I240M	probably benign	Het
Abcd3	A	T	3: 121,558,710 (GRCm39)	D595E	probably damaging	Het
Akap9	A	G	5: 4,025,614 (GRCm39)		probably null	Het
Arpc1b	A	G	5: 145,062,555 (GRCm39)	D223G	probably damaging	Het
BC005537	T	C	13: 24,989,969 (GRCm39)		probably null	Het
Ccdc9b	T	C	2: 118,587,903 (GRCm39)	D477G	possibly damaging	Het
Chrdl2	T	C	7: 99,666,197 (GRCm39)	V39A	possibly damaging	Het
Clmp	C	G	9: 40,693,737 (GRCm39)	S318W	probably damaging	Het
Cmas	T	C	6: 142,717,853 (GRCm39)	S323P	probably damaging	Het
Cnksr3	T	C	10: 7,079,132 (GRCm39)	T80A	probably benign	Het
Ddx25	T	C	9: 35,453,298 (GRCm39)	Y484C	probably damaging	Het
Dennd6b	A	G	15: 89,073,075 (GRCm39)	V154A	probably damaging	Het
Dmxl1	G	A	18: 49,990,316 (GRCm39)	V252I	probably benign	Het
Dnah2	T	C	11: 69,341,876 (GRCm39)	Y3003C	probably damaging	Het
Dnhd1	T	C	7: 105,370,480 (GRCm39)		probably null	Het
Dppa4	G	A	16: 48,111,596 (GRCm39)	A194T	probably damaging	Het
Dst	T	C	1: 34,228,527 (GRCm39)	V2218A	possibly damaging	Het
Dytn	G	C	1: 63,673,032 (GRCm39)	S457C	probably damaging	Het
Fndc3a	G	A	14: 72,777,768 (GRCm39)	Q1101*	probably null	Het
Focad	A	T	4: 88,275,679 (GRCm39)		probably null	Het
Gas2l2	T	A	11: 83,312,907 (GRCm39)	T802S	probably benign	Het
Gm5093	A	G	17: 46,750,622 (GRCm39)	F135S	probably benign	Het
Gmeb1	A	T	4: 131,969,759 (GRCm39)	D71E	possibly damaging	Het
Heatr5b	G	A	17: 79,124,992 (GRCm39)	R587C	probably damaging	Het
Jakmip2	T	C	18: 43,692,279 (GRCm39)		probably null	Het
Mier3	T	A	13: 111,841,778 (GRCm39)	L111Q	probably damaging	Het
Mrgprg	G	A	7: 143,318,779 (GRCm39)	S111F	possibly damaging	Het
Mybl1	T	C	1: 9,741,901 (GRCm39)	K677R	probably benign	Het
Nhsl1	T	C	10: 18,407,323 (GRCm39)	S1486P	probably damaging	Het
Nup133	A	G	8: 124,642,114 (GRCm39)	I783T	probably benign	Het
Or10d4c	A	T	9: 39,558,459 (GRCm39)	T146S	probably benign	Het
Or5an1c	A	T	19: 12,218,956 (GRCm39)	I23K	probably benign	Het
Pigr	A	T	1: 130,769,281 (GRCm39)	I31L	probably benign	Het
Plaat5	A	G	19: 7,616,999 (GRCm39)		probably benign	Het
Pole2	G	A	12: 69,254,703 (GRCm39)	L381F	probably benign	Het
Pramel6	T	A	2: 87,338,917 (GRCm39)	M39K	possibly damaging	Het
Rapgef6	T	A	11: 54,530,553 (GRCm39)		probably null	Het
Rinl	T	C	7: 28,496,329 (GRCm39)	C437R	probably damaging	Het
Shank1	T	C	7: 43,965,499 (GRCm39)	S192P	unknown	Het
Slc2a10	A	T	2: 165,359,570 (GRCm39)	Y478F	probably damaging	Het
Slc37a3	A	T	6: 39,343,877 (GRCm39)	L12H	probably damaging	Het
Slit2	T	A	5: 48,414,393 (GRCm39)	C970S	possibly damaging	Het
Stard9	T	C	2: 120,496,857 (GRCm39)	S119P	probably damaging	Het
Stim2	C	A	5: 54,273,451 (GRCm39)	D568E	probably damaging	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Traf3	A	G	12: 111,221,757 (GRCm39)	E306G	probably damaging	Het
Trappc9	G	A	15: 72,897,816 (GRCm39)	R377W	probably damaging	Het
Ttll6	T	C	11: 96,049,714 (GRCm39)	S811P	possibly damaging	Het
Ubr7	A	G	12: 102,735,437 (GRCm39)	K299E	probably benign	Het
Urb1	C	A	16: 90,593,380 (GRCm39)	V251L	probably damaging	Het
Vps13b	G	T	15: 35,422,590 (GRCm39)	E183D	probably damaging	Het
Zfp35	T	G	18: 24,136,557 (GRCm39)	Y300*	probably null	Het
Zfp414	C	T	17: 33,849,012 (GRCm39)	T33I	probably damaging	Het
Zfp938	C	T	10: 82,063,632 (GRCm39)		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
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
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'- CACTGGATTACGCAGAGCCTCTAAG -3'
(R):5'- AGTTTTCTAGTTTTCCCGCAGGGAC -3'

Sequencing Primer
(F):5'- GGCTTCCTCACAGGTACAC -3'
(R):5'- TGGAATAACTACTCCAGCCTTAG -3'

Posted On

2014-03-14