Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01845:Acp6'

178192

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Acp6

Ensembl Gene

ENSMUSG00000028093

Gene Name

acid phosphatase 6, lysophosphatidic

Synonyms

5730559A09Rik, ACPL1, mPACPL1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.115) question?

Stock #

IGL01845

Quality Score

Status

Chromosome

Chromosomal Location

97066070-97083892 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 97081123 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 288 (S288G)

Ref Sequence

ENSEMBL: ENSMUSP00000088263 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090759]

AlphaFold

Q8BP40

Predicted Effect

probably benign
Transcript: ENSMUST00000090759
AA Change: S288G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000088263
Gene: ENSMUSG00000028093
AA Change: S288G

Domain	Start	End	E-Value	Type
Pfam:His_Phos_2	42	228	4.6e-20	PFAM
Pfam:His_Phos_2	245	371	8e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139898

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143234

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146143

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198329

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the histidine acid phosphatase protein family. The encoded protein hydrolyzes lysophosphatidic acid, which is involved in G protein-coupled receptor signaling, lipid raft modulation, and in balancing lipid composition within the cell. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2016]
PHENOTYPE: Phenotypic analysis of mice homozygous for a gene trap allele indicates this mutation has no notable phenotype in any parameter tested. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600012H06Rik	T	C	17: 15,164,380 (GRCm39)	L169P	probably damaging	Het
4933405L10Rik	C	A	8: 106,435,567 (GRCm39)	A75E	probably benign	Het
Abca1	A	G	4: 53,090,297 (GRCm39)	L384P	probably damaging	Het
Acox2	C	A	14: 8,251,617 (GRCm38)	M293I	probably damaging	Het
Arhgef12	T	A	9: 42,934,137 (GRCm39)	H127L	possibly damaging	Het
Arid2	T	G	15: 96,254,678 (GRCm39)	F175V	probably damaging	Het
Ccdc15	G	A	9: 37,226,532 (GRCm39)	Q468*	probably null	Het
Ccdc93	T	C	1: 121,390,859 (GRCm39)	I277T	probably damaging	Het
Cdh8	T	C	8: 99,825,586 (GRCm39)		probably benign	Het
Cdipt	T	C	7: 126,578,725 (GRCm39)	S145P	possibly damaging	Het
Cfap206	T	C	4: 34,719,610 (GRCm39)	N268S	possibly damaging	Het
Clcn3	A	T	8: 61,366,129 (GRCm39)	N814K	probably benign	Het
Col6a3	T	C	1: 90,724,293 (GRCm39)	D2019G	probably damaging	Het
Corin	C	A	5: 72,511,282 (GRCm39)	G432C	probably damaging	Het
Crppa	A	G	12: 36,597,918 (GRCm39)	R350G	probably benign	Het
Cyld	C	T	8: 89,432,403 (GRCm39)	Q134*	probably null	Het
Dhh	C	A	15: 98,795,864 (GRCm39)	R97L	probably damaging	Het
Dnah5	T	C	15: 28,449,315 (GRCm39)	V4239A	probably benign	Het
Dock2	T	C	11: 34,599,692 (GRCm39)	I296V	probably benign	Het
Gabbr1	T	C	17: 37,359,306 (GRCm39)		probably benign	Het
Gbp10	T	C	5: 105,367,815 (GRCm39)		probably null	Het
Itgam	T	A	7: 127,711,644 (GRCm39)	L753Q	probably damaging	Het
Kbtbd12	A	G	6: 88,590,922 (GRCm39)	V430A	probably benign	Het
Kdm4a	A	G	4: 118,017,656 (GRCm39)	V470A	possibly damaging	Het
Larp1b	A	T	3: 40,924,960 (GRCm39)	T146S	probably benign	Het
Lrrfip2	T	A	9: 111,028,728 (GRCm39)		probably benign	Het
Mier2	A	T	10: 79,385,418 (GRCm39)	C137S	possibly damaging	Het
Morc3	A	G	16: 93,657,455 (GRCm39)	Y393C	probably damaging	Het
Ms4a7	A	T	19: 11,299,751 (GRCm39)	M217K	possibly damaging	Het
Msl1	A	G	11: 98,696,191 (GRCm39)		probably null	Het
Myh2	A	G	11: 67,083,860 (GRCm39)	E1546G	probably benign	Het
Nlgn2	A	G	11: 69,716,675 (GRCm39)	L622P	possibly damaging	Het
Oga	T	A	19: 45,756,301 (GRCm39)	E447D	probably benign	Het
Or10q3	A	G	19: 11,847,888 (GRCm39)	S231P	probably benign	Het
Or1e33	A	G	11: 73,738,298 (GRCm39)	Y218H	probably damaging	Het
Or1j11	A	C	2: 36,312,105 (GRCm39)	K232Q	probably benign	Het
Or56b1b	T	A	7: 108,164,343 (GRCm39)	I220L	possibly damaging	Het
Or5k17	T	C	16: 58,746,929 (GRCm39)	M2V	probably benign	Het
Phf20	C	A	2: 156,118,577 (GRCm39)	S427*	probably null	Het
Pirt	G	A	11: 66,816,794 (GRCm39)	S35N	probably damaging	Het
Prss28	C	A	17: 25,529,011 (GRCm39)	N117K	possibly damaging	Het
Rbbp8nl	A	G	2: 179,925,104 (GRCm39)	C34R	probably damaging	Het
Rtn3	A	T	19: 7,435,241 (GRCm39)	D231E	probably damaging	Het
Sema5a	T	C	15: 32,474,514 (GRCm39)		probably benign	Het
Sh3bp2	T	A	5: 34,713,347 (GRCm39)	L196Q	probably damaging	Het
Slc26a9	G	T	1: 131,685,256 (GRCm39)	D325Y	probably damaging	Het
Slc4a1	A	G	11: 102,244,729 (GRCm39)	V622A	probably benign	Het
Thbd	A	G	2: 148,249,016 (GRCm39)	V284A	probably benign	Het
Tmc5	T	C	7: 118,251,733 (GRCm39)	F609L	possibly damaging	Het
Tnr	T	C	1: 159,695,576 (GRCm39)		probably benign	Het
Ttc17	A	T	2: 94,163,177 (GRCm39)	Y881*	probably null	Het
Ttc41	A	T	10: 86,612,488 (GRCm39)	T1254S	probably benign	Het
Ttn	C	T	2: 76,640,347 (GRCm39)	D13754N	probably damaging	Het
Vmn2r16	T	A	5: 109,511,762 (GRCm39)	F656L	probably damaging	Het
Wdr19	A	G	5: 65,382,709 (GRCm39)	I478V	probably damaging	Het
Zan	T	C	5: 137,379,116 (GRCm39)		probably benign	Het
Zp2	T	A	7: 119,737,414 (GRCm39)	D258V	probably damaging	Het

Other mutations in Acp6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00332:Acp6	APN	3	97,083,737 (GRCm39)	missense	possibly damaging	0.94
IGL01610:Acp6	APN	3	97,083,036 (GRCm39)	missense	possibly damaging	0.81
IGL01655:Acp6	APN	3	97,073,288 (GRCm39)	critical splice donor site	probably null
IGL01788:Acp6	APN	3	97,073,198 (GRCm39)	missense	probably damaging	1.00
IGL02978:Acp6	APN	3	97,073,875 (GRCm39)	missense	probably benign	0.30
IGL03180:Acp6	APN	3	97,082,951 (GRCm39)	missense	probably benign	0.15
R0144:Acp6	UTSW	3	97,073,145 (GRCm39)	splice site	probably benign
R0471:Acp6	UTSW	3	97,075,891 (GRCm39)	critical splice donor site	probably null
R1458:Acp6	UTSW	3	97,081,104 (GRCm39)	splice site	probably benign
R1889:Acp6	UTSW	3	97,073,201 (GRCm39)	missense	probably damaging	0.98
R1990:Acp6	UTSW	3	97,083,054 (GRCm39)	missense	probably damaging	1.00
R2051:Acp6	UTSW	3	97,075,333 (GRCm39)	missense	probably benign	0.00
R3786:Acp6	UTSW	3	97,066,605 (GRCm39)	missense	probably damaging	0.98
R3933:Acp6	UTSW	3	97,073,499 (GRCm39)	missense	probably benign	0.00
R4271:Acp6	UTSW	3	97,073,934 (GRCm39)	critical splice donor site	probably null
R4604:Acp6	UTSW	3	97,083,075 (GRCm39)	missense	probably benign	0.23
R4864:Acp6	UTSW	3	97,066,683 (GRCm39)	critical splice donor site	probably null
R4935:Acp6	UTSW	3	97,079,060 (GRCm39)	critical splice donor site	probably null
R5076:Acp6	UTSW	3	97,075,305 (GRCm39)	missense	probably benign	0.01
R5255:Acp6	UTSW	3	97,075,312 (GRCm39)	missense	probably benign	0.11
R5896:Acp6	UTSW	3	97,075,810 (GRCm39)	missense	probably benign	0.03
R5959:Acp6	UTSW	3	97,073,888 (GRCm39)	missense	probably damaging	1.00
R6004:Acp6	UTSW	3	97,082,997 (GRCm39)	missense	probably benign	0.11
R6938:Acp6	UTSW	3	97,082,949 (GRCm39)	missense	probably benign	0.04
R7593:Acp6	UTSW	3	97,073,266 (GRCm39)	missense	probably benign	0.30
R8485:Acp6	UTSW	3	97,066,302 (GRCm39)	start gained	probably benign
R8796:Acp6	UTSW	3	97,066,509 (GRCm39)	missense	probably benign	0.01
R8971:Acp6	UTSW	3	97,078,961 (GRCm39)	missense	probably damaging	1.00
X0067:Acp6	UTSW	3	97,073,273 (GRCm39)	nonsense	probably null

Posted On

2014-05-07