|Institutional Source||Beutler Lab|
|Gene Name||alkaline phosphatase, intestinal|
|Is this an essential gene?||Probably non essential (E-score: 0.108)|
|Stock #||R5427 (G1)|
|Chromosomal Location||87098002-87101606 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 87101354 bp|
|Amino Acid Change||Asparagine to Aspartic acid at position 33 (N33D)|
|Ref Sequence||ENSEMBL: ENSMUSP00000108895 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000113270]|
|Predicted Effect||probably benign
AA Change: N33D
PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
AA Change: N33D
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.054|
|Coding Region Coverage||
|Validation Efficiency||97% (58/60)|
|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'- GGCCTGTTAATACCCACCAGTG -3'
(R):5'- TTTGAGCCCAGGCAGACTAAG -3'
(F):5'- CAGTGGCCCTGGGTACTTG -3'
(R):5'- GGGCAGCCCATCAGTAAC -3'
|Posted On||Sep 01, 2016|