Incidental Mutation 'IGL01343:Akp3'
ID 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 IAP, Akp-3
Accession Numbers
Essential gene? Probably non essential (E-score: 0.217) question?
Stock # IGL01343
Quality Score
Status
Chromosome 1
Chromosomal Location 87052695-87055634 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to T at 87054858 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000037497 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044878]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000044878
SMART Domains Protein: ENSMUSP00000037497
Gene: ENSMUSG00000036500

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd2 A T 15: 91,033,416 (GRCm39) probably benign Het
Adgrf1 T A 17: 43,624,086 (GRCm39) F835L probably null Het
BC106179 G T 16: 23,043,037 (GRCm39) probably benign Het
Bysl C A 17: 47,912,814 (GRCm39) M325I probably benign Het
Cip2a A G 16: 48,833,551 (GRCm39) I551V probably damaging Het
Crnn A G 3: 93,055,633 (GRCm39) R140G probably benign Het
Cts8 T C 13: 61,397,010 (GRCm39) probably benign Het
Cxcr4 T C 1: 128,517,292 (GRCm39) Y121C probably damaging Het
Ddr2 T C 1: 169,812,150 (GRCm39) T691A probably benign Het
Dhx30 A T 9: 109,915,313 (GRCm39) F782I probably benign Het
Efcab5 C T 11: 77,020,756 (GRCm39) G655D probably damaging Het
Eif2ak4 G A 2: 118,252,570 (GRCm39) V381I probably benign Het
Enpp3 A T 10: 24,681,820 (GRCm39) Y295* probably null Het
Fbxo28 T C 1: 182,144,577 (GRCm39) E329G probably damaging Het
Fcgbpl1 A G 7: 27,850,127 (GRCm39) Q1191R probably benign Het
Fmnl2 T A 2: 53,013,557 (GRCm39) V972D probably damaging Het
Fmr1 A G X: 67,731,901 (GRCm39) D22G probably damaging Het
Fsip2 A G 2: 82,830,163 (GRCm39) T6886A possibly damaging Het
Gadl1 A G 9: 115,903,180 (GRCm39) *503W probably null Het
Gpc6 A T 14: 117,424,224 (GRCm39) K104I possibly damaging Het
Hecw2 T A 1: 53,866,135 (GRCm39) T1509S probably damaging Het
Lonp1 A G 17: 56,922,586 (GRCm39) L680P possibly damaging Het
Lrrc66 A T 5: 73,765,806 (GRCm39) N412K probably damaging Het
Marco C T 1: 120,422,469 (GRCm39) probably null Het
Mdga2 T C 12: 66,769,883 (GRCm39) T206A probably damaging Het
Mogat2 C A 7: 98,881,775 (GRCm39) A54S possibly damaging Het
Myh15 T A 16: 48,976,040 (GRCm39) D1369E probably benign Het
Nckap1 A T 2: 80,350,186 (GRCm39) S840T possibly damaging Het
Ncor1 C T 11: 62,216,312 (GRCm39) probably null Het
Nfrkb C A 9: 31,300,250 (GRCm39) L14I probably damaging Het
Notch1 C A 2: 26,362,917 (GRCm39) A950S probably benign Het
Notch3 T C 17: 32,362,410 (GRCm39) E1405G probably benign Het
Nsd2 C A 5: 34,000,922 (GRCm39) D146E probably damaging Het
Oc90 T C 15: 65,761,440 (GRCm39) T193A probably benign Het
Or7c70 A T 10: 78,683,431 (GRCm39) V106E probably damaging Het
Or8g50 C A 9: 39,649,011 (GRCm39) A300D probably damaging Het
Or8k40 T A 2: 86,584,843 (GRCm39) K80* probably null Het
Orc2 A T 1: 58,532,014 (GRCm39) probably null Het
Pacsin2 T C 15: 83,270,887 (GRCm39) H254R probably damaging Het
Pif1 T A 9: 65,496,844 (GRCm39) M319K probably damaging Het
Prag1 G A 8: 36,570,200 (GRCm39) R261H possibly damaging Het
Ptprq G A 10: 107,474,700 (GRCm39) T1335I probably damaging Het
Ryr3 A G 2: 112,490,399 (GRCm39) Y3812H probably damaging Het
Sgo2b G A 8: 64,380,349 (GRCm39) Q828* probably null Het
Skint6 A G 4: 113,140,823 (GRCm39) V6A probably benign Het
Slc16a13 A G 11: 70,111,340 (GRCm39) I55T probably damaging Het
Slc22a3 A T 17: 12,644,516 (GRCm39) W490R probably damaging Het
Speer4b G T 5: 27,702,881 (GRCm39) H208N probably benign Het
Tas2r124 T C 6: 132,732,378 (GRCm39) L229S probably damaging Het
Tlr4 T C 4: 66,752,124 (GRCm39) probably benign Het
Tmed1 G T 9: 21,421,369 (GRCm39) T35K probably damaging Het
Tubgcp5 C A 7: 55,445,779 (GRCm39) probably benign Het
Ugt2b34 A G 5: 87,052,247 (GRCm39) S250P possibly damaging Het
Zfp516 A G 18: 83,011,221 (GRCm39) T1085A probably damaging Het
Znfx1 T C 2: 166,879,283 (GRCm39) I1698V probably benign Het
Zswim8 G T 14: 20,763,409 (GRCm39) W385C probably damaging Het
Other mutations in Akp3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02146:Akp3 APN 1 87,054,297 (GRCm39) missense probably benign 0.00
IGL02216:Akp3 APN 1 87,055,372 (GRCm39) missense probably damaging 1.00
IGL02677:Akp3 APN 1 87,052,994 (GRCm39) missense probably damaging 1.00
IGL02716:Akp3 APN 1 87,053,201 (GRCm39) missense probably damaging 1.00
IGL02943:Akp3 APN 1 87,054,091 (GRCm39) nonsense probably null
IGL03099:Akp3 APN 1 87,055,328 (GRCm39) missense probably benign 0.14
R0458:Akp3 UTSW 1 87,054,259 (GRCm39) nonsense probably null
R0755:Akp3 UTSW 1 87,055,593 (GRCm39) missense unknown
R0783:Akp3 UTSW 1 87,055,593 (GRCm39) missense unknown
R0784:Akp3 UTSW 1 87,055,593 (GRCm39) missense unknown
R1080:Akp3 UTSW 1 87,054,723 (GRCm39) missense probably damaging 0.99
R1120:Akp3 UTSW 1 87,053,159 (GRCm39) missense probably damaging 0.98
R1128:Akp3 UTSW 1 87,055,593 (GRCm39) missense unknown
R1130:Akp3 UTSW 1 87,055,593 (GRCm39) missense unknown
R1175:Akp3 UTSW 1 87,055,593 (GRCm39) missense unknown
R1200:Akp3 UTSW 1 87,052,982 (GRCm39) missense probably damaging 1.00
R1618:Akp3 UTSW 1 87,055,593 (GRCm39) missense unknown
R1864:Akp3 UTSW 1 87,055,489 (GRCm39) small deletion probably benign
R2111:Akp3 UTSW 1 87,054,607 (GRCm39) splice site probably null
R4657:Akp3 UTSW 1 87,053,556 (GRCm39) intron probably benign
R5278:Akp3 UTSW 1 87,052,888 (GRCm39) missense probably benign 0.01
R5563:Akp3 UTSW 1 87,053,646 (GRCm39) missense probably damaging 1.00
R5643:Akp3 UTSW 1 87,055,485 (GRCm39) missense unknown
R5768:Akp3 UTSW 1 87,054,844 (GRCm39) missense probably damaging 0.99
R5809:Akp3 UTSW 1 87,054,270 (GRCm39) missense probably benign 0.06
R5956:Akp3 UTSW 1 87,054,667 (GRCm39) missense probably damaging 1.00
R5999:Akp3 UTSW 1 87,055,263 (GRCm39) missense probably damaging 1.00
R6945:Akp3 UTSW 1 87,053,353 (GRCm39) missense probably damaging 1.00
R7028:Akp3 UTSW 1 87,054,500 (GRCm39) missense probably benign
R7154:Akp3 UTSW 1 87,052,946 (GRCm39) missense probably damaging 0.99
R7162:Akp3 UTSW 1 87,055,471 (GRCm39) missense unknown
R7486:Akp3 UTSW 1 87,053,201 (GRCm39) missense probably damaging 1.00
R7825:Akp3 UTSW 1 87,055,489 (GRCm39) small deletion probably benign
R8267:Akp3 UTSW 1 87,055,461 (GRCm39) missense unknown
R8708:Akp3 UTSW 1 87,054,091 (GRCm39) nonsense probably null
R9026:Akp3 UTSW 1 87,054,786 (GRCm39) missense possibly damaging 0.89
R9433:Akp3 UTSW 1 87,053,517 (GRCm39) missense probably benign 0.01
X0018:Akp3 UTSW 1 87,054,060 (GRCm39) missense probably damaging 1.00
X0060:Akp3 UTSW 1 87,053,616 (GRCm39) missense probably damaging 1.00
X0066:Akp3 UTSW 1 87,054,518 (GRCm39) missense probably damaging 0.98
Z1177:Akp3 UTSW 1 87,054,167 (GRCm39) critical splice donor site probably null
Posted On 2013-10-07