Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02677:Akp3'

303165

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: 0.229) question?

Stock #

IGL02677

Quality Score

Status

Chromosome

Chromosomal Location

87124973-87127912 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 87125272 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 61 (D61G)

Ref Sequence

ENSEMBL: ENSMUSP00000037497 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000044878
AA Change: D61G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000037497
Gene: ENSMUSG00000036500
AA Change: D61G

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406B18Rik	G	T	7: 43,501,095	Y84*	probably null	Het
4931406P16Rik	T	A	7: 34,242,409		probably benign	Het
Adam5	A	G	8: 24,812,379		probably benign	Het
Aipl1	T	C	11: 72,029,396	E282G	possibly damaging	Het
Anpep	A	G	7: 79,838,730	S451P	probably damaging	Het
Csnka2ip	A	G	16: 64,478,312	L119P	probably damaging	Het
Ddx19a	T	C	8: 110,989,609	E53G	probably benign	Het
Ddx50	C	T	10: 62,616,293	R116Q	unknown	Het
Ddx60	A	T	8: 61,988,132	E1078D	probably damaging	Het
Dpy19l1	T	C	9: 24,485,072	D116G	probably damaging	Het
Dsg4	A	G	18: 20,464,876	T668A	possibly damaging	Het
Dspp	A	G	5: 104,175,977	T329A	possibly damaging	Het
Eftud2	T	C	11: 102,846,614	T554A	probably damaging	Het
Enpp1	T	C	10: 24,679,185		probably benign	Het
Ext2	A	T	2: 93,707,245	F599I	probably damaging	Het
Fahd1	A	T	17: 24,849,530	I191N	probably damaging	Het
Fcrls	A	T	3: 87,259,387	S100T	probably benign	Het
Fras1	T	A	5: 96,545,024	C181S	probably damaging	Het
Gcnt4	A	G	13: 96,947,233	I346V	probably benign	Het
Gfra1	G	A	19: 58,453,355	T48I	probably damaging	Het
Kcnma1	A	G	14: 23,463,156	Y392H	probably damaging	Het
Klc2	T	C	19: 5,111,668	Y298C	probably damaging	Het
Lamb3	G	A	1: 193,339,522	V1011I	probably benign	Het
Ldb1	T	C	19: 46,036,155		probably benign	Het
Mcph1	A	G	8: 18,625,593	K11E	probably damaging	Het
Myc	A	G	15: 61,989,664	H374R	probably damaging	Het
Myom1	A	G	17: 71,084,349	Y853C	probably damaging	Het
Olfr1282	A	T	2: 111,335,802	I92N	probably damaging	Het
Pakap	C	T	4: 57,856,263	P572S	probably benign	Het
Pclo	A	G	5: 14,676,929		probably benign	Het
Pde3a	G	A	6: 141,405,172		probably benign	Het
Per1	T	C	11: 69,106,660	V887A	probably benign	Het
Prokr1	G	A	6: 87,588,368		probably benign	Het
Rb1cc1	A	G	1: 6,249,419	I1021V	probably benign	Het
Ryr1	T	C	7: 29,110,608	E344G	probably benign	Het
Sec24c	A	T	14: 20,689,642	D529V	probably damaging	Het
Slc1a6	T	C	10: 78,789,064	V101A	probably damaging	Het
Srrm1	G	A	4: 135,325,104	P658L	unknown	Het
Tap2	G	A	17: 34,212,047	V374M	probably benign	Het
Tex15	T	A	8: 33,571,080	D179E	probably benign	Het
Tmem8b	T	C	4: 43,686,092	L241P	probably damaging	Het
Tmprss11g	T	C	5: 86,492,290	D160G	probably benign	Het
Trim30a	C	T	7: 104,435,913	C30Y	probably damaging	Het
Ttn	A	G	2: 76,771,496		probably benign	Het
Ush2a	A	G	1: 188,734,685	R2849G	probably damaging	Het
Usp5	A	G	6: 124,819,426	V570A	probably damaging	Het
Vipr1	T	C	9: 121,660,283		probably benign	Het
Zc2hc1c	A	C	12: 85,290,076	D169A	probably benign	Het

Other mutations in Akp3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01343:Akp3	APN	1	87127136	splice site	probably benign
IGL02146:Akp3	APN	1	87126575	missense	probably benign	0.00
IGL02216:Akp3	APN	1	87127650	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	splice site	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
R8267:Akp3	UTSW	1	87127739	missense	unknown
R8708:Akp3	UTSW	1	87126369	nonsense	probably null
R9026:Akp3	UTSW	1	87127064	missense	possibly damaging	0.89
R9433:Akp3	UTSW	1	87125795	missense	probably benign	0.01
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

2015-04-16