Incidental Mutation 'IGL01980:Entpd6'
ID182725
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 #IGL01980
Quality Score
Status
Chromosome2
Chromosomal Location150749042-150771675 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to A at 150762366 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000092038 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094467]
Predicted Effect probably null
Transcript: ENSMUST00000094467
SMART Domains Protein: ENSMUSP00000092038
Gene: ENSMUSG00000033068

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146517
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147223
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd60 C T 2: 173,571,203 C164Y probably benign Het
Atp13a2 C T 4: 141,006,152 A979V probably benign Het
Col5a2 C T 1: 45,382,233 probably benign Het
Col6a6 T C 9: 105,780,985 N676S probably damaging Het
Cpa1 T C 6: 30,641,582 F192L possibly damaging Het
Fam185a A G 5: 21,459,173 K302E probably damaging Het
Il12rb2 T C 6: 67,360,535 K121E probably benign Het
Impg2 G A 16: 56,221,527 C178Y probably damaging Het
Kdm3b G T 18: 34,834,236 C1698F probably damaging Het
Llgl2 A G 11: 115,850,025 D451G probably damaging Het
Mgat4b T A 11: 50,230,713 L52Q probably damaging Het
Mmp9 C A 2: 164,950,916 S363R probably benign Het
Mtfmt A G 9: 65,437,074 Y94C probably benign Het
Myo7b G A 18: 31,961,900 L1881F possibly damaging Het
Olfr642 A T 7: 104,050,093 M87K probably benign Het
Olfr782 G T 10: 129,351,517 probably benign Het
Pex5 T C 6: 124,398,380 N524S probably damaging Het
Plppr1 A T 4: 49,319,992 Y206F possibly damaging Het
Polr3e A G 7: 120,940,296 probably benign Het
Rhbdd1 A G 1: 82,340,834 probably benign Het
Rims4 A T 2: 163,865,782 probably benign Het
Smarcal1 A T 1: 72,616,520 K653* probably null Het
Stt3b C T 9: 115,276,699 probably null Het
Syt8 C A 7: 142,440,140 L343M probably damaging Het
Tbc1d23 G A 16: 57,189,252 probably benign Het
Tfec T C 6: 16,845,466 I65V probably damaging Het
Tmem236 A T 2: 14,218,905 Q168H probably benign Het
Tmem25 G A 9: 44,798,271 R78* probably null Het
Tnip2 A G 5: 34,496,868 V288A probably benign Het
Ttc1 G A 11: 43,730,464 probably benign Het
Tubb4b-ps1 A C 5: 7,179,843 probably benign Het
Tut1 T C 19: 8,954,000 C21R probably damaging Het
Ubr4 C A 4: 139,429,602 Q2313K probably damaging Het
Unc5b T C 10: 60,780,187 E119G probably damaging Het
Vmn1r23 T A 6: 57,926,490 Q101L probably damaging Het
Vmn2r77 A G 7: 86,801,470 D188G probably benign Het
Vmn2r79 A G 7: 87,037,082 E557G possibly damaging Het
Zfp738 A G 13: 67,669,977 F632L possibly damaging Het
Other mutations in Entpd6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01890:Entpd6 APN 2 150770692 missense possibly damaging 0.76
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