Incidental Mutation 'IGL01890:Entpd6'
ID179237
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Entpd6
Ensembl Gene ENSMUSG00000033068
Gene Nameectonucleoside triphosphate diphosphohydrolase 6
SynonymsNTPDase-6, 2700026H11Rik, Cd39l2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.106) question?
Stock #IGL01890
Quality Score
Status
Chromosome2
Chromosomal Location150749042-150771675 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 150770692 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Asparagine at position 445 (D445N)
Ref Sequence ENSEMBL: ENSMUSP00000092038 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094467]
Predicted Effect possibly damaging
Transcript: ENSMUST00000094467
AA Change: D445N

PolyPhen 2 Score 0.757 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000092038
Gene: ENSMUSG00000033068
AA Change: D445N

DomainStartEndE-ValueType
transmembrane domain 13 32 N/A INTRINSIC
low complexity region 37 51 N/A INTRINSIC
Pfam:GDA1_CD39 65 453 7.2e-74 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ENTPD6 is similar to E-type nucleotidases (NTPases). NTPases, such as CD39, mediate catabolism of extracellular nucleotides. ENTPD6 contains 4 apyrase-conserved regions which are characteristic of NTPases. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn1 A T 12: 80,184,868 V265E probably damaging Het
Anks1b A G 10: 90,644,527 I865V probably benign Het
Car5a G A 8: 121,923,610 A182V probably benign Het
Ccdc47 A G 11: 106,205,451 V249A probably damaging Het
Cyb561d2 A G 9: 107,541,523 V34A probably damaging Het
Dmbt1 A G 7: 131,074,419 probably benign Het
Fastkd2 A G 1: 63,732,161 I225M probably benign Het
Flcn A G 11: 59,795,170 V424A probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gpn3 A G 5: 122,381,265 M176V probably benign Het
Igkv12-38 C T 6: 69,943,405 C43Y probably damaging Het
Oas1h A G 5: 120,862,789 probably null Het
Rexo1 A T 10: 80,543,011 Y1064N possibly damaging Het
Skint1 G A 4: 112,010,681 G2R probably damaging Het
Slc4a9 G A 18: 36,529,707 A172T possibly damaging Het
Synpo2 A G 3: 123,112,497 S727P probably damaging Het
Tmem131 A T 1: 36,823,156 probably benign Het
Trpm3 G T 19: 22,711,719 R4L probably damaging Het
Upf1 A T 8: 70,334,230 V879E possibly damaging Het
Vmn1r194 A T 13: 22,244,606 Y131F probably benign Het
Vmn2r95 T A 17: 18,451,475 N491K probably damaging Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Other mutations in Entpd6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01980:Entpd6 APN 2 150762366 splice site probably null
IGL03208:Entpd6 APN 2 150768918 missense probably damaging 0.96
R0057:Entpd6 UTSW 2 150758828 missense probably null 0.90
R0403:Entpd6 UTSW 2 150760170 missense possibly damaging 0.95
R1035:Entpd6 UTSW 2 150764192 splice site probably benign
R1485:Entpd6 UTSW 2 150768923 critical splice donor site probably null
R1532:Entpd6 UTSW 2 150758750 missense probably benign 0.02
R1921:Entpd6 UTSW 2 150758812 missense probably damaging 1.00
R4772:Entpd6 UTSW 2 150767094 missense probably damaging 1.00
R5026:Entpd6 UTSW 2 150763644 missense probably damaging 1.00
R5356:Entpd6 UTSW 2 150770383 missense probably damaging 1.00
R6944:Entpd6 UTSW 2 150763599 missense probably damaging 1.00
Posted On2014-05-07