Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01343:Akp3'

74968

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Akp3

Ensembl Gene

ENSMUSG00000036500

Gene Name

alkaline phosphatase 3, intestine, not Mn requiring

Synonyms

Akp-3, IAP

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.125) question?

Stock #

IGL01343

Quality Score

Status

Chromosome

Chromosomal Location

87124973-87127912 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

G to T at 87127136 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000037497 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044878]

Predicted Effect

probably benign
Transcript: ENSMUST00000044878

SMART Domains

Protein: ENSMUSP00000037497
Gene: ENSMUSG00000036500

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
low complexity region	33	45	N/A	INTRINSIC
alkPPc	53	487	1.92e-249	SMART
low complexity region	503	524	N/A	INTRINSIC
low complexity region	533	557	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187662

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] There are at least four distinct but related alkaline phosphatases: intestinal, placental, placental-like, and liver/bone/kidney (tissue non-specific). The intestinal alkaline phosphatase gene encodes a digestive brush-border enzyme. This enzyme is a component of the gut mucosal defense system and is thought to function in the detoxification of lipopolysaccharide, and in the prevention of bacterial translocation in the gut. [provided by RefSeq, Dec 2014]
PHENOTYPE: Mice homozygous for disruption of this gene show no gross abnormalities in appearance, behavior or fertility. They do display accelerated lipid absorption on a high fat diet leading to elevated plasma triglycerides and increased weight gain. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530053A07Rik	A	G	7: 28,150,702	Q1191R	probably benign	Het
Abcd2	A	T	15: 91,149,213		probably benign	Het
Adgrf1	T	A	17: 43,313,195	F835L	probably null	Het
BC106179	G	T	16: 23,224,287		probably benign	Het
Bysl	C	A	17: 47,601,889	M325I	probably benign	Het
C330027C09Rik	A	G	16: 49,013,188	I551V	probably damaging	Het
Crnn	A	G	3: 93,148,326	R140G	probably benign	Het
Cts8	T	C	13: 61,249,196		probably benign	Het
Cxcr4	T	C	1: 128,589,555	Y121C	probably damaging	Het
Ddr2	T	C	1: 169,984,581	T691A	probably benign	Het
Dhx30	A	T	9: 110,086,245	F782I	probably benign	Het
Efcab5	C	T	11: 77,129,930	G655D	probably damaging	Het
Eif2ak4	G	A	2: 118,422,089	V381I	probably benign	Het
Enpp3	A	T	10: 24,805,922	Y295*	probably null	Het
Fbxo28	T	C	1: 182,317,012	E329G	probably damaging	Het
Fmnl2	T	A	2: 53,123,545	V972D	probably damaging	Het
Fmr1	A	G	X: 68,688,295	D22G	probably damaging	Het
Fsip2	A	G	2: 82,999,819	T6886A	possibly damaging	Het
Gadl1	A	G	9: 116,074,112	*503W	probably null	Het
Gpc6	A	T	14: 117,186,812	K104I	possibly damaging	Het
Hecw2	T	A	1: 53,826,976	T1509S	probably damaging	Het
Lonp1	A	G	17: 56,615,586	L680P	possibly damaging	Het
Lrrc66	A	T	5: 73,608,463	N412K	probably damaging	Het
Marco	C	T	1: 120,494,740		probably null	Het
Mdga2	T	C	12: 66,723,109	T206A	probably damaging	Het
Mogat2	C	A	7: 99,232,568	A54S	possibly damaging	Het
Myh15	T	A	16: 49,155,677	D1369E	probably benign	Het
Nckap1	A	T	2: 80,519,842	S840T	possibly damaging	Het
Ncor1	C	T	11: 62,325,486		probably null	Het
Nfrkb	C	A	9: 31,388,954	L14I	probably damaging	Het
Notch1	C	A	2: 26,472,905	A950S	probably benign	Het
Notch3	T	C	17: 32,143,436	E1405G	probably benign	Het
Nsd2	C	A	5: 33,843,578	D146E	probably damaging	Het
Oc90	T	C	15: 65,889,591	T193A	probably benign	Het
Olfr1090	T	A	2: 86,754,499	K80*	probably null	Het
Olfr1356	A	T	10: 78,847,597	V106E	probably damaging	Het
Olfr150	C	A	9: 39,737,715	A300D	probably damaging	Het
Orc2	A	T	1: 58,492,855		probably null	Het
Pacsin2	T	C	15: 83,386,686	H254R	probably damaging	Het
Pif1	T	A	9: 65,589,562	M319K	probably damaging	Het
Prag1	G	A	8: 36,103,046	R261H	possibly damaging	Het
Ptprq	G	A	10: 107,638,839	T1335I	probably damaging	Het
Ryr3	A	G	2: 112,660,054	Y3812H	probably damaging	Het
Sgo2b	G	A	8: 63,927,315	Q828*	probably null	Het
Skint6	A	G	4: 113,283,626	V6A	probably benign	Het
Slc16a13	A	G	11: 70,220,514	I55T	probably damaging	Het
Slc22a3	A	T	17: 12,425,629	W490R	probably damaging	Het
Speer4b	G	T	5: 27,497,883	H208N	probably benign	Het
Tas2r124	T	C	6: 132,755,415	L229S	probably damaging	Het
Tlr4	T	C	4: 66,833,887		probably benign	Het
Tmed1	G	T	9: 21,510,073	T35K	probably damaging	Het
Tubgcp5	C	A	7: 55,796,031		probably benign	Het
Ugt2b34	A	G	5: 86,904,388	S250P	possibly damaging	Het
Zfp516	A	G	18: 82,993,096	T1085A	probably damaging	Het
Znfx1	T	C	2: 167,037,363	I1698V	probably benign	Het
Zswim8	G	T	14: 20,713,341	W385C	probably damaging	Het

Other mutations in Akp3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02146:Akp3	APN	1	87126575	missense	probably benign	0.00
IGL02216:Akp3	APN	1	87127650	missense	probably damaging	1.00
IGL02677:Akp3	APN	1	87125272	missense	probably damaging	1.00
IGL02716:Akp3	APN	1	87125479	missense	probably damaging	1.00
IGL02943:Akp3	APN	1	87126369	nonsense	probably null
IGL03099:Akp3	APN	1	87127606	missense	probably benign	0.14
R0458:Akp3	UTSW	1	87126537	nonsense	probably null
R0755:Akp3	UTSW	1	87127871	missense	unknown
R0783:Akp3	UTSW	1	87127871	missense	unknown
R0784:Akp3	UTSW	1	87127871	missense	unknown
R1080:Akp3	UTSW	1	87127001	missense	probably damaging	0.99
R1120:Akp3	UTSW	1	87125437	missense	probably damaging	0.98
R1128:Akp3	UTSW	1	87127871	missense	unknown
R1130:Akp3	UTSW	1	87127871	missense	unknown
R1175:Akp3	UTSW	1	87127871	missense	unknown
R1200:Akp3	UTSW	1	87125260	missense	probably damaging	1.00
R1618:Akp3	UTSW	1	87127871	missense	unknown
R1864:Akp3	UTSW	1	87127767	small deletion	probably benign
R2111:Akp3	UTSW	1	87126885	intron	probably null
R4657:Akp3	UTSW	1	87125834	intron	probably benign
R5278:Akp3	UTSW	1	87125166	missense	probably benign	0.01
R5563:Akp3	UTSW	1	87125924	missense	probably damaging	1.00
R5643:Akp3	UTSW	1	87127763	missense	unknown
R5768:Akp3	UTSW	1	87127122	missense	probably damaging	0.99
R5809:Akp3	UTSW	1	87126548	missense	probably benign	0.06
R5956:Akp3	UTSW	1	87126945	missense	probably damaging	1.00
R5999:Akp3	UTSW	1	87127541	missense	probably damaging	1.00
R6945:Akp3	UTSW	1	87125631	missense	probably damaging	1.00
R7028:Akp3	UTSW	1	87126778	missense	probably benign
R7154:Akp3	UTSW	1	87125224	missense	probably damaging	0.99
R7162:Akp3	UTSW	1	87127749	missense	unknown
R7486:Akp3	UTSW	1	87125479	missense	probably damaging	1.00
R7825:Akp3	UTSW	1	87127767	small deletion	probably benign
X0018:Akp3	UTSW	1	87126338	missense	probably damaging	1.00
X0060:Akp3	UTSW	1	87125894	missense	probably damaging	1.00
X0066:Akp3	UTSW	1	87126796	missense	probably damaging	0.98
Z1177:Akp3	UTSW	1	87126445	critical splice donor site	probably null

Posted On

2013-10-07