Incidental Mutation 'IGL03154:Alpi'
ID411190
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Alpi
Ensembl Gene ENSMUSG00000079440
Gene Namealkaline phosphatase, intestinal
Synonyms2010001C14Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.108) question?
Stock #IGL03154
Quality Score
Status
Chromosome1
Chromosomal Location87098002-87101606 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 87100088 bp
ZygosityHeterozygous
Amino Acid Change Tryptophan to Arginine at position 257 (W257R)
Ref Sequence ENSEMBL: ENSMUSP00000108895 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113270]
Predicted Effect probably damaging
Transcript: ENSMUST00000113270
AA Change: W257R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108895
Gene: ENSMUSG00000079440
AA Change: W257R

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
Validation Efficiency
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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh1a1 A G 19: 20,630,768 E318G probably benign Het
Arap2 T C 5: 62,642,925 E1253G probably damaging Het
Fam208b A T 13: 3,575,255 M1565K possibly damaging Het
Fbxw13 G T 9: 109,181,465 F368L probably damaging Het
Gm7030 T A 17: 36,127,875 N208I probably benign Het
Herc2 T A 7: 56,202,159 D3655E probably damaging Het
Hkdc1 T A 10: 62,385,705 D858V probably damaging Het
Ifi205 A C 1: 174,017,666 probably benign Het
Ighv10-3 T A 12: 114,523,887 M1L probably benign Het
Igkv4-90 C T 6: 68,807,272 G87R probably damaging Het
Insc G A 7: 114,842,189 G413S probably null Het
Iqch T A 9: 63,454,682 T850S probably damaging Het
Kcnd2 A G 6: 21,216,708 Y137C probably damaging Het
Lhx6 A T 2: 36,094,443 probably null Het
Lrp2 A G 2: 69,549,042 S109P probably damaging Het
Mroh1 T C 15: 76,452,838 L1617P probably damaging Het
Olfr346 A T 2: 36,688,643 I214F possibly damaging Het
Olfr464 A T 11: 87,914,246 V220D possibly damaging Het
Olfr549 G T 7: 102,554,706 V141L probably benign Het
Olfr739 A T 14: 50,424,623 I35F probably benign Het
Prex2 T C 1: 11,153,633 V727A possibly damaging Het
Ralgapb A G 2: 158,432,866 H229R probably damaging Het
Rusc2 G A 4: 43,425,806 G1304S probably benign Het
Sbsn A G 7: 30,751,728 N56S possibly damaging Het
Skint8 T A 4: 111,939,510 probably null Het
Uso1 C A 5: 92,180,618 S358* probably null Het
Other mutations in Alpi
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00330:Alpi APN 1 87099720 missense probably damaging 1.00
IGL01972:Alpi APN 1 87099709 missense probably damaging 1.00
IGL02672:Alpi APN 1 87101272 missense probably damaging 1.00
IGL03089:Alpi APN 1 87100108 missense probably benign 0.05
IGL03099:Alpi APN 1 87098631 missense unknown
IGL03372:Alpi APN 1 87100628 splice site probably benign
K7371:Alpi UTSW 1 87099171 splice site probably benign
R0053:Alpi UTSW 1 87098790 missense probably benign 0.03
R0054:Alpi UTSW 1 87099765 missense possibly damaging 0.61
R0070:Alpi UTSW 1 87101159 splice site probably benign
R1586:Alpi UTSW 1 87100201 missense probably damaging 1.00
R1835:Alpi UTSW 1 87099414 missense possibly damaging 0.88
R2372:Alpi UTSW 1 87100594 missense probably damaging 1.00
R4546:Alpi UTSW 1 87099117 missense probably damaging 1.00
R4861:Alpi UTSW 1 87100469 missense probably damaging 0.98
R4861:Alpi UTSW 1 87100469 missense probably damaging 0.98
R4968:Alpi UTSW 1 87101525 missense probably benign 0.05
R5427:Alpi UTSW 1 87101354 missense probably benign 0.04
R6245:Alpi UTSW 1 87100834 missense probably damaging 1.00
R6394:Alpi UTSW 1 87100706 missense possibly damaging 0.71
R6398:Alpi UTSW 1 87099462 missense probably damaging 0.98
R6616:Alpi UTSW 1 87101114 missense possibly damaging 0.81
R7168:Alpi UTSW 1 87099433 missense possibly damaging 0.94
R7448:Alpi UTSW 1 87101535 start codon destroyed possibly damaging 0.79
R7473:Alpi UTSW 1 87099647 critical splice donor site probably null
R7527:Alpi UTSW 1 87098955 missense probably benign 0.01
R7552:Alpi UTSW 1 87099073 missense probably benign 0.00
R8008:Alpi UTSW 1 87098662 missense unknown
X0052:Alpi UTSW 1 87100201 missense probably damaging 1.00
X0057:Alpi UTSW 1 87101078 missense probably damaging 1.00
Z1176:Alpi UTSW 1 87099072 missense probably benign 0.05
Posted On2016-08-02