Incidental Mutation 'IGL02451:Enpp4'
ID293648
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Enpp4
Ensembl Gene ENSMUSG00000023961
Gene Nameectonucleotide pyrophosphatase/phosphodiesterase 4
Synonyms4933413N07Rik, LOC224794
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.167) question?
Stock #IGL02451
Quality Score
Status
Chromosome17
Chromosomal Location44096308-44105809 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 44101424 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Histidine at position 298 (L298H)
Ref Sequence ENSEMBL: ENSMUSP00000114429 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024757] [ENSMUST00000143137]
Predicted Effect probably damaging
Transcript: ENSMUST00000024757
AA Change: L298H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000024757
Gene: ENSMUSG00000023961
AA Change: L298H

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:Phosphodiest 31 342 9e-85 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000143137
AA Change: L298H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000114429
Gene: ENSMUSG00000023961
AA Change: L298H

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:Phosphodiest 31 342 5.7e-80 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700123K08Rik T G 5: 138,563,547 T126P probably damaging Het
Asic2 T C 11: 80,891,737 probably benign Het
B430305J03Rik A G 3: 61,364,141 probably benign Het
Bbs7 A G 3: 36,610,592 F47L possibly damaging Het
BC017158 A G 7: 128,276,410 L257P probably damaging Het
Bcl2l14 G T 6: 134,423,841 G75V probably benign Het
Btnl4 T C 17: 34,475,927 H4R probably benign Het
Champ1 C A 8: 13,878,739 P299Q probably damaging Het
Cldnd2 A G 7: 43,441,658 K5E probably benign Het
Ctr9 T A 7: 111,043,424 L401* probably null Het
Cyp2c29 G A 19: 39,290,847 G96D possibly damaging Het
Git1 T C 11: 77,500,687 C222R possibly damaging Het
Gpam T C 19: 55,088,203 T189A probably damaging Het
Hgfac T G 5: 35,043,814 probably null Het
Hivep3 T A 4: 120,133,965 S2221T probably damaging Het
Ifi47 T C 11: 49,095,777 Y124H probably damaging Het
Il1a T C 2: 129,306,655 E45G probably damaging Het
Itga11 T A 9: 62,735,353 I186N probably damaging Het
Krt16 A T 11: 100,246,336 probably benign Het
Mapk13 A G 17: 28,776,413 T203A probably damaging Het
Mrpl37 T A 4: 107,066,642 I52F probably damaging Het
Nr1i2 A G 16: 38,249,292 F417L probably benign Het
Olfr1129 T A 2: 87,575,232 S49R probably benign Het
Olfr811 G A 10: 129,801,833 Q231* probably null Het
Osbpl1a T C 18: 12,914,493 probably benign Het
Parg C T 14: 32,242,229 T112M probably damaging Het
Pifo T A 3: 106,014,504 E34D probably benign Het
Pou6f1 T C 15: 100,579,940 T166A possibly damaging Het
Prtg A G 9: 72,856,999 I585V possibly damaging Het
Ptpru T G 4: 131,776,775 probably benign Het
Rab6a T C 7: 100,636,763 probably null Het
Rnf207 C T 4: 152,312,412 R425H probably benign Het
Skiv2l2 C T 13: 112,891,347 V660M probably damaging Het
Slc27a2 A G 2: 126,578,992 M468V probably benign Het
Slc30a1 A G 1: 191,907,329 H108R possibly damaging Het
Sned1 A G 1: 93,236,208 probably benign Het
Sptbn4 A T 7: 27,365,589 F2095Y probably null Het
Sspo A T 6: 48,460,303 probably benign Het
Tbx19 A G 1: 165,140,171 S336P probably benign Het
Tmem101 T A 11: 102,153,293 D256V probably damaging Het
Trbv20 T G 6: 41,188,276 L2V unknown Het
Trpc7 A G 13: 56,822,461 S382P probably damaging Het
Uhmk1 T C 1: 170,212,526 T91A possibly damaging Het
Vmn2r10 T A 5: 108,995,922 R721* probably null Het
Vmn2r94 T A 17: 18,258,191 Y98F possibly damaging Het
Zcchc11 C A 4: 108,529,276 Y1114* probably null Het
Zfp532 A G 18: 65,623,601 R202G probably damaging Het
Zfp827 T C 8: 79,060,972 S256P probably damaging Het
Zzef1 T C 11: 72,901,388 I2266T probably damaging Het
Other mutations in Enpp4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01536:Enpp4 APN 17 44099603 missense possibly damaging 0.56
IGL02150:Enpp4 APN 17 44102158 missense probably benign 0.22
IGL02879:Enpp4 APN 17 44101950 missense probably benign 0.00
R0005:Enpp4 UTSW 17 44102175 missense probably benign 0.04
R0540:Enpp4 UTSW 17 44099495 missense probably damaging 1.00
R0607:Enpp4 UTSW 17 44099495 missense probably damaging 1.00
R0942:Enpp4 UTSW 17 44101881 nonsense probably null
R1334:Enpp4 UTSW 17 44102368 missense probably benign 0.02
R1632:Enpp4 UTSW 17 44099653 missense probably damaging 0.99
R2567:Enpp4 UTSW 17 44101845 missense probably damaging 0.97
R4272:Enpp4 UTSW 17 44101807 missense probably benign 0.01
R4273:Enpp4 UTSW 17 44101807 missense probably benign 0.01
R4750:Enpp4 UTSW 17 44102355 missense probably damaging 1.00
R6267:Enpp4 UTSW 17 44102480 missense probably benign 0.00
R6296:Enpp4 UTSW 17 44102480 missense probably benign 0.00
R7180:Enpp4 UTSW 17 44102037 missense probably benign 0.03
R8036:Enpp4 UTSW 17 44102245 missense possibly damaging 0.81
R8135:Enpp4 UTSW 17 44101335 missense probably benign 0.00
Posted On2015-04-16