Incidental Mutation 'IGL02488:Enpp7'
ID295517
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Enpp7
Ensembl Gene ENSMUSG00000046697
Gene Nameectonucleotide pyrophosphatase/phosphodiesterase 7
SynonymsLOC238011, Alk-SMase
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02488
Quality Score
Status
Chromosome11
Chromosomal Location118988188-118992841 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 118988814 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Asparagine at position 98 (T98N)
Ref Sequence ENSEMBL: ENSMUSP00000101880 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092373] [ENSMUST00000106273]
Predicted Effect possibly damaging
Transcript: ENSMUST00000092373
AA Change: T98N

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000090027
Gene: ENSMUSG00000046697
AA Change: T98N

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:Phosphodiest 30 353 2.5e-76 PFAM
Pfam:Metalloenzyme 43 272 8.7e-10 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000106273
AA Change: T98N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000101880
Gene: ENSMUSG00000046697
AA Change: T98N

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:Phosphodiest 30 353 3e-77 PFAM
Pfam:Metalloenzyme 41 257 5.2e-10 PFAM
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 intestinal alkaline sphingomyelin phosphodiesterase that converts sphingomyelin to ceramide and phosphocholine. The encoded protein is anchored in the cell membrane, and it may function to protect the intestinal mucosa from inflammation and tumorigenesis. This protein is glycosylated and also exhibits lysophosphatidylcholine hydrolase activity. [provided by RefSeq, Oct 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit intestinal epithelium hypertrophy, decreased crypt and villi width, and impaired sphingomyelin digestion. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam5 C T 8: 24,792,006 D417N probably damaging Het
Akr1d1 A T 6: 37,567,160 E324D probably benign Het
Ankrd34a A G 3: 96,598,913 I478V probably benign Het
C8b A G 4: 104,804,081 H498R probably benign Het
Cct6a T G 5: 129,789,821 probably benign Het
Fcna A T 2: 25,625,211 probably null Het
Gtdc1 A G 2: 44,825,439 Y31H probably benign Het
Gzme A T 14: 56,118,392 N154K probably benign Het
Hectd4 T C 5: 121,292,087 V849A probably benign Het
Hps1 C T 19: 42,757,788 probably benign Het
Incenp A T 19: 9,893,407 I286N unknown Het
Matn1 G T 4: 130,944,493 V24F probably benign Het
Mcm3ap A G 10: 76,499,649 T1302A probably damaging Het
Megf10 A G 18: 57,292,632 Y1030C probably damaging Het
Mpdu1 T C 11: 69,658,609 T87A probably damaging Het
Olfr347 T A 2: 36,734,350 S10T probably benign Het
Olfr648 T A 7: 104,180,271 I46F possibly damaging Het
Pde6h A G 6: 136,963,266 probably null Het
Pkhd1l1 A G 15: 44,558,597 I3088V probably benign Het
Plec G T 15: 76,179,159 T2259K possibly damaging Het
Ptch2 C T 4: 117,110,396 R754C probably damaging Het
Ptpn12 T C 5: 21,022,062 T81A possibly damaging Het
Sars2 C T 7: 28,742,160 R49* probably null Het
Scyl1 G T 19: 5,770,313 Y164* probably null Het
Smarcd1 T C 15: 99,711,201 C419R possibly damaging Het
Syne2 C A 12: 75,965,738 R2568S probably benign Het
Tap2 A G 17: 34,214,642 probably benign Het
Thrb T A 14: 18,033,455 I406K probably damaging Het
Tnn T A 1: 160,140,593 I410F probably benign Het
Tns2 T C 15: 102,112,743 S940P probably benign Het
Trav6-2 A G 14: 52,667,786 K88R probably benign Het
Ttbk2 T C 2: 120,755,871 M386V probably benign Het
Vldlr A G 19: 27,238,275 E224G probably damaging Het
Vmn1r46 T A 6: 89,976,981 C271S probably benign Het
Zfhx2 T C 14: 55,065,103 E1808G possibly damaging Het
Zfp385a A G 15: 103,320,306 I42T probably damaging Het
Other mutations in Enpp7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00793:Enpp7 APN 11 118990545 missense probably damaging 1.00
IGL02672:Enpp7 APN 11 118992340 critical splice donor site probably null
R0465:Enpp7 UTSW 11 118988781 missense probably damaging 1.00
R1718:Enpp7 UTSW 11 118990983 missense probably damaging 1.00
R2208:Enpp7 UTSW 11 118988762 splice site probably benign
R2970:Enpp7 UTSW 11 118990646 missense probably damaging 1.00
R3713:Enpp7 UTSW 11 118990518 missense probably damaging 1.00
R3967:Enpp7 UTSW 11 118991001 missense probably damaging 0.99
R5222:Enpp7 UTSW 11 118990962 missense probably benign 0.03
R5454:Enpp7 UTSW 11 118988808 missense probably benign 0.03
R5577:Enpp7 UTSW 11 118992127 missense probably benign 0.01
R7361:Enpp7 UTSW 11 118992159 missense probably benign 0.02
Posted On2015-04-16