|Institutional Source||Beutler Lab|
|Gene Name||alkaline phosphatase, intestinal|
|Is this an essential gene?||Probably non essential (E-score: 0.095)|
|Stock #||R0054 (G1)|
|Chromosomal Location||87098002-87101606 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 87099765 bp|
|Amino Acid Change||Glutamic Acid to Glycine at position 293 (E293G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000108895 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000113270]|
|Predicted Effect||possibly damaging
AA Change: E293G
PolyPhen 2 Score 0.611 (Sensitivity: 0.87; Specificity: 0.91)
AA Change: E293G
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.0532|
|Coding Region Coverage||
|Validation Efficiency||99% (83/84)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an alkaline phosphatase, a metalloenzyme that catalyzes the hydrolysis of phosphoric acid monoesters. It belongs to a multigene family composed of four alkaline phosphatase isoenzymes. The enzyme functions as a homodimer and has a catalytic site containing one magnesium and two zinc ions, which are required for its enzymatic function. The protein is primarily expressed in placental and endometrial tissue; however, strong ectopic expression has been detected in ovarian adenocarcinoma, serous cystadenocarcinoma, and other ovarian cancer cells. [provided by RefSeq, Jan 2015]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Alpi||
(F):5'- TCAGTCAGTGCCAGGTAAGCTGTG -3'
(R):5'- TGCCTCTCAGGGCTATGTGCTAAG -3'
(F):5'- TGGTCAATACGACCCCCTG -3'
(R):5'- GTGCTAAGACTGACTGTGTCCC -3'