Incidental Mutation 'R6398:Alpi'
ID 516056
Institutional Source Beutler Lab
Gene Symbol Alpi
Ensembl Gene ENSMUSG00000079440
Gene Name alkaline phosphatase, intestinal
Synonyms 2010001C14Rik
MMRRC Submission 044381-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.090) question?
Stock # R6398 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 87025724-87029328 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 87027184 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 365 (T365S)
Ref Sequence ENSEMBL: ENSMUSP00000108895 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113270]
AlphaFold F8VPQ6
Predicted Effect probably damaging
Transcript: ENSMUST00000113270
AA Change: T365S

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000108895
Gene: ENSMUSG00000079440
AA Change: T365S

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.9%
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ago1 T A 4: 126,342,601 (GRCm39) Q514L probably benign Het
Cbx4 A T 11: 118,971,908 (GRCm39) V489E probably damaging Het
Ccdc162 T C 10: 41,503,145 (GRCm39) D999G probably damaging Het
Clspn A G 4: 126,457,740 (GRCm39) E88G probably damaging Het
D6Ertd527e C G 6: 87,088,506 (GRCm39) T223S unknown Het
Ddx1 A T 12: 13,295,721 (GRCm39) I33N probably damaging Het
Diaph3 G A 14: 87,103,922 (GRCm39) L821F probably damaging Het
Duox2 C T 2: 122,126,851 (GRCm39) M221I probably benign Het
Gm15130 A T 2: 110,965,787 (GRCm39) M154K unknown Het
Gm3233 G T 10: 77,595,249 (GRCm39) probably benign Het
Heg1 A C 16: 33,587,145 (GRCm39) I1327L probably damaging Het
Ifnar1 G A 16: 91,302,303 (GRCm39) probably null Het
Itpr1 C T 6: 108,482,864 (GRCm39) L2310F probably damaging Het
Or5b98 T C 19: 12,931,681 (GRCm39) S243P probably damaging Het
Pcdhb7 A G 18: 37,476,487 (GRCm39) N541S possibly damaging Het
Prelp A G 1: 133,842,479 (GRCm39) L222P probably damaging Het
Prl8a8 A G 13: 27,692,412 (GRCm39) I193T probably damaging Het
Prpf4b G T 13: 35,084,354 (GRCm39) R914L probably damaging Het
Ptbp2 G C 3: 119,514,484 (GRCm39) Q448E probably benign Het
Rsf1 GCG GCGACGGCGACG 7: 97,229,114 (GRCm39) probably benign Het
Slc9a9 A T 9: 94,552,280 (GRCm39) M56L probably benign Het
Slfn4 A G 11: 83,078,000 (GRCm39) I263V possibly damaging Het
Taar2 A G 10: 23,817,177 (GRCm39) N239S probably benign Het
Trrap T A 5: 144,727,680 (GRCm39) I467N possibly damaging Het
Ttc28 T C 5: 111,424,142 (GRCm39) Y1439H probably damaging Het
Usp34 A G 11: 23,438,666 (GRCm39) I3409M probably benign Het
Zbbx G T 3: 74,985,872 (GRCm39) N388K probably damaging Het
Znhit2 A G 19: 6,112,287 (GRCm39) N344S probably damaging 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
K7371:Alpi UTSW 1 87,026,893 (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
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
Predicted Primers PCR Primer
(F):5'- TTGTGCCCTTTTGACAGATGAG -3'
(R):5'- GCAGGAATCCACAAGGCTTC -3'

Sequencing Primer
(F):5'- GCCCTTTTGACAGATGAGTAAACAG -3'
(R):5'- GGAATCCACAAGGCTTCTACCTC -3'
Posted On 2018-05-04