Incidental Mutation 'K7371:Alpi'
ID 7877
Institutional Source Beutler Lab
Gene Symbol Alpi
Ensembl Gene ENSMUSG00000079440
Gene Name alkaline phosphatase, intestinal
Synonyms 2010001C14Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.090) question?
Stock # K7371 of strain 614
Quality Score
Status Validated
Chromosome 1
Chromosomal Location 87025724-87029328 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to A at 87026893 bp (GRCm39)
Zygosity Homozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000108895 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113270]
AlphaFold F8VPQ6
Predicted Effect probably benign
Transcript: ENSMUST00000113270
SMART Domains Protein: ENSMUSP00000108895
Gene: ENSMUSG00000079440

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
low complexity region 34 46 N/A INTRINSIC
alkPPc 54 489 7.97e-247 SMART
low complexity region 509 532 N/A INTRINSIC
low complexity region 533 547 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186823
Coding Region Coverage
  • 1x: 85.4%
  • 3x: 78.2%
Validation Efficiency 72% (67/93)
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
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610008E11Rik T C 10: 78,903,767 (GRCm39) Y155C probably benign Homo
Ap4e1 T A 2: 126,908,456 (GRCm39) probably benign Het
Arhgdib A T 6: 136,909,297 (GRCm39) probably null Het
Ckap5 T C 2: 91,425,868 (GRCm39) probably benign Het
Ddx50 A T 10: 62,457,289 (GRCm39) M1K probably null Het
Ell3 T C 2: 121,269,969 (GRCm39) H380R probably damaging Het
Epx A G 11: 87,755,710 (GRCm39) V658A probably damaging Homo
Ern1 A T 11: 106,291,101 (GRCm39) I858N probably damaging Homo
Mtmr10 G A 7: 63,963,958 (GRCm39) G231D probably benign Het
Nfx1 A G 4: 40,976,803 (GRCm39) D159G probably damaging Homo
Opn5 A G 17: 42,891,522 (GRCm39) I305T probably damaging Homo
Pak2 T C 16: 31,852,602 (GRCm39) probably benign Het
Pkhd1l1 T A 15: 44,400,838 (GRCm39) I2204K possibly damaging Het
Pkhd1l1 A T 15: 44,363,463 (GRCm39) T628S possibly damaging Het
Smgc T A 15: 91,744,453 (GRCm39) probably benign Het
Stab1 G A 14: 30,872,206 (GRCm39) L1194F probably damaging Het
Stab2 A G 10: 86,779,153 (GRCm39) probably null Homo
Tet1 T C 10: 62,714,955 (GRCm39) D280G probably benign Het
Vcam1 A G 3: 115,918,298 (GRCm39) I227T probably benign Homo
Wdr87-ps A G 7: 29,230,417 (GRCm39) noncoding transcript Het
Other mutations in Alpi
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00330:Alpi APN 1 87,027,442 (GRCm39) missense probably damaging 1.00
IGL01972:Alpi APN 1 87,027,431 (GRCm39) missense probably damaging 1.00
IGL02672:Alpi APN 1 87,028,994 (GRCm39) missense probably damaging 1.00
IGL03089:Alpi APN 1 87,027,830 (GRCm39) missense probably benign 0.05
IGL03099:Alpi APN 1 87,026,353 (GRCm39) missense unknown
IGL03154:Alpi APN 1 87,027,810 (GRCm39) missense probably damaging 1.00
IGL03372:Alpi APN 1 87,028,350 (GRCm39) splice site probably benign
R0053:Alpi UTSW 1 87,026,512 (GRCm39) missense probably benign 0.03
R0054:Alpi UTSW 1 87,027,487 (GRCm39) missense possibly damaging 0.61
R0070:Alpi UTSW 1 87,028,881 (GRCm39) splice site probably benign
R1586:Alpi UTSW 1 87,027,923 (GRCm39) missense probably damaging 1.00
R1835:Alpi UTSW 1 87,027,136 (GRCm39) missense possibly damaging 0.88
R2372:Alpi UTSW 1 87,028,316 (GRCm39) missense probably damaging 1.00
R4546:Alpi UTSW 1 87,026,839 (GRCm39) missense probably damaging 1.00
R4861:Alpi UTSW 1 87,028,191 (GRCm39) missense probably damaging 0.98
R4861:Alpi UTSW 1 87,028,191 (GRCm39) missense probably damaging 0.98
R4968:Alpi UTSW 1 87,029,247 (GRCm39) missense probably benign 0.05
R5427:Alpi UTSW 1 87,029,076 (GRCm39) missense probably benign 0.04
R6245:Alpi UTSW 1 87,028,556 (GRCm39) missense probably damaging 1.00
R6394:Alpi UTSW 1 87,028,428 (GRCm39) missense possibly damaging 0.71
R6398:Alpi UTSW 1 87,027,184 (GRCm39) missense probably damaging 0.98
R6616:Alpi UTSW 1 87,028,836 (GRCm39) missense possibly damaging 0.81
R7168:Alpi UTSW 1 87,027,155 (GRCm39) missense possibly damaging 0.94
R7448:Alpi UTSW 1 87,029,257 (GRCm39) start codon destroyed possibly damaging 0.79
R7473:Alpi UTSW 1 87,027,369 (GRCm39) critical splice donor site probably null
R7527:Alpi UTSW 1 87,026,677 (GRCm39) missense probably benign 0.01
R7552:Alpi UTSW 1 87,026,795 (GRCm39) missense probably benign 0.00
R8008:Alpi UTSW 1 87,026,384 (GRCm39) missense unknown
R8693:Alpi UTSW 1 87,026,405 (GRCm39) missense unknown
R8698:Alpi UTSW 1 87,028,208 (GRCm39) missense probably damaging 1.00
R9071:Alpi UTSW 1 87,026,584 (GRCm39) missense probably damaging 0.97
R9342:Alpi UTSW 1 87,026,386 (GRCm39) missense unknown
R9528:Alpi UTSW 1 87,026,772 (GRCm39) critical splice donor site probably null
R9733:Alpi UTSW 1 87,028,516 (GRCm39) missense probably benign 0.09
X0052:Alpi UTSW 1 87,027,923 (GRCm39) missense probably damaging 1.00
X0057:Alpi UTSW 1 87,028,800 (GRCm39) missense probably damaging 1.00
Z1176:Alpi UTSW 1 87,026,794 (GRCm39) missense probably benign 0.05
Posted On 2012-11-12