Incidental Mutation 'IGL01536:Enpp4'
ID89966
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: 0.194) question?
Stock #IGL01536
Quality Score
Status
Chromosome17
Chromosomal Location44096308-44105809 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 44099603 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Glutamic Acid at position 361 (K361E)
Ref Sequence ENSEMBL: ENSMUSP00000114429 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024757] [ENSMUST00000143137]
Predicted Effect possibly damaging
Transcript: ENSMUST00000024757
AA Change: K361E

PolyPhen 2 Score 0.555 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000024757
Gene: ENSMUSG00000023961
AA Change: K361E

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:Phosphodiest 31 342 9e-85 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000143137
AA Change: K361E

PolyPhen 2 Score 0.555 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000114429
Gene: ENSMUSG00000023961
AA Change: K361E

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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp5a1 T C 18: 77,780,312 probably benign Het
Ccnc A G 4: 21,732,505 I81V probably benign Het
Cep112 A G 11: 108,531,411 D560G probably null Het
Dis3 A G 14: 99,079,423 Y826H probably damaging Het
Dtx2 A G 5: 136,010,086 probably benign Het
Erap1 A T 13: 74,662,423 K294* probably null Het
Erbb4 T A 1: 68,290,282 Y636F probably benign Het
Fads1 C A 19: 10,194,030 Q342K probably benign Het
Fntb A T 12: 76,920,130 T447S probably benign Het
Hdac4 A G 1: 91,930,146 probably benign Het
Kcnh2 A G 5: 24,326,524 I463T probably damaging Het
Kif13a G T 13: 46,752,289 T726K probably damaging Het
Lcmt1 T C 7: 123,422,743 S275P possibly damaging Het
Lmnb1 T C 18: 56,740,796 S425P probably benign Het
Lrp1b T C 2: 41,110,883 I2224V probably benign Het
Lrrc45 A T 11: 120,715,584 T173S probably benign Het
Muc4 T C 16: 32,763,966 Y2590H possibly damaging Het
Myo18a C T 11: 77,820,851 P676L probably damaging Het
Olfr1023 T C 2: 85,887,600 S267P probably damaging Het
Pcdhb15 T C 18: 37,474,993 M426T probably benign Het
Pik3cd A G 4: 149,652,666 V891A probably damaging Het
Polr1b A G 2: 129,125,555 N956S probably benign Het
Ppil3 T C 1: 58,444,591 M1V probably null Het
Rad1 T A 15: 10,493,200 S238T possibly damaging Het
Shc3 A C 13: 51,516,559 S51A probably damaging Het
Slc9c1 T C 16: 45,589,629 probably null Het
Smg5 A G 3: 88,349,245 K273E possibly damaging Het
Sntg1 C T 1: 8,583,200 probably null Het
Sstr4 T C 2: 148,395,880 L137P probably damaging Het
Taar8b C T 10: 24,091,595 V234I probably benign Het
Tbc1d9 A G 8: 83,260,992 Y860C probably damaging Het
Tll1 A T 8: 64,074,289 S399R probably damaging Het
Tns1 T C 1: 73,919,648 probably benign Het
Trim10 T A 17: 36,877,288 probably null Het
Ttn C T 2: 76,732,351 probably null Het
Usp43 T C 11: 67,855,938 D981G probably benign Het
Vmn2r108 A T 17: 20,463,281 C554S probably damaging Het
Vmn2r112 T A 17: 22,605,155 Y464N probably damaging Het
Vmn2r31 T C 7: 7,384,848 K575E probably damaging Het
Vmn2r50 C T 7: 10,037,683 C697Y probably damaging Het
Zcchc8 A C 5: 123,720,719 probably null Het
Other mutations in Enpp4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02150:Enpp4 APN 17 44102158 missense probably benign 0.22
IGL02451:Enpp4 APN 17 44101424 missense probably damaging 1.00
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 On2013-12-03