Incidental Mutation 'IGL01980:Entpd6'
ID 182725
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Entpd6
Ensembl Gene ENSMUSG00000033068
Gene Name ectonucleoside triphosphate diphosphohydrolase 6
Synonyms Cd39l2, NTPDase-6, 2700026H11Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01980
Quality Score
Status
Chromosome 2
Chromosomal Location 150590962-150613595 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 150604286 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000092038 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094467] [ENSMUST00000094467]
AlphaFold Q3U0P5
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 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: 173,412,996 (GRCm39) C164Y probably benign Het
Atp13a2 C T 4: 140,733,463 (GRCm39) A979V probably benign Het
Col5a2 C T 1: 45,421,393 (GRCm39) probably benign Het
Col6a6 T C 9: 105,658,184 (GRCm39) N676S probably damaging Het
Cpa1 T C 6: 30,641,581 (GRCm39) F192L possibly damaging Het
Fam185a A G 5: 21,664,171 (GRCm39) K302E probably damaging Het
Il12rb2 T C 6: 67,337,519 (GRCm39) K121E probably benign Het
Impg2 G A 16: 56,041,890 (GRCm39) C178Y probably damaging Het
Kdm3b G T 18: 34,967,289 (GRCm39) C1698F probably damaging Het
Llgl2 A G 11: 115,740,851 (GRCm39) D451G probably damaging Het
Mgat4b T A 11: 50,121,540 (GRCm39) L52Q probably damaging Het
Mmp9 C A 2: 164,792,836 (GRCm39) S363R probably benign Het
Mtfmt A G 9: 65,344,356 (GRCm39) Y94C probably benign Het
Myo7b G A 18: 32,094,953 (GRCm39) L1881F possibly damaging Het
Or51a10 A T 7: 103,699,300 (GRCm39) M87K probably benign Het
Or6c6 G T 10: 129,187,386 (GRCm39) probably benign Het
Pex5 T C 6: 124,375,339 (GRCm39) N524S probably damaging Het
Plppr1 A T 4: 49,319,992 (GRCm39) Y206F possibly damaging Het
Polr3e A G 7: 120,539,519 (GRCm39) probably benign Het
Rhbdd1 A G 1: 82,318,555 (GRCm39) probably benign Het
Rims4 A T 2: 163,707,702 (GRCm39) probably benign Het
Smarcal1 A T 1: 72,655,679 (GRCm39) K653* probably null Het
Stt3b C T 9: 115,105,767 (GRCm39) probably null Het
Syt8 C A 7: 141,993,877 (GRCm39) L343M probably damaging Het
Tbc1d23 G A 16: 57,009,615 (GRCm39) probably benign Het
Tfec T C 6: 16,845,465 (GRCm39) I65V probably damaging Het
Tmem236 A T 2: 14,223,716 (GRCm39) Q168H probably benign Het
Tmem25 G A 9: 44,709,568 (GRCm39) R78* probably null Het
Tnip2 A G 5: 34,654,212 (GRCm39) V288A probably benign Het
Ttc1 G A 11: 43,621,291 (GRCm39) probably benign Het
Tubb4b-ps1 A C 5: 7,229,843 (GRCm39) probably benign Het
Tut1 T C 19: 8,931,364 (GRCm39) C21R probably damaging Het
Ubr4 C A 4: 139,156,913 (GRCm39) Q2313K probably damaging Het
Unc5b T C 10: 60,615,966 (GRCm39) E119G probably damaging Het
Vmn1r23 T A 6: 57,903,475 (GRCm39) Q101L probably damaging Het
Vmn2r77 A G 7: 86,450,678 (GRCm39) D188G probably benign Het
Vmn2r79 A G 7: 86,686,290 (GRCm39) E557G possibly damaging Het
Zfp738 A G 13: 67,818,096 (GRCm39) F632L possibly damaging Het
Other mutations in Entpd6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01890:Entpd6 APN 2 150,612,612 (GRCm39) missense possibly damaging 0.76
IGL03208:Entpd6 APN 2 150,610,838 (GRCm39) missense probably damaging 0.96
R0057:Entpd6 UTSW 2 150,600,748 (GRCm39) missense probably null 0.90
R0403:Entpd6 UTSW 2 150,602,090 (GRCm39) missense possibly damaging 0.95
R1035:Entpd6 UTSW 2 150,606,112 (GRCm39) splice site probably benign
R1485:Entpd6 UTSW 2 150,610,843 (GRCm39) critical splice donor site probably null
R1532:Entpd6 UTSW 2 150,600,670 (GRCm39) missense probably benign 0.02
R1921:Entpd6 UTSW 2 150,600,732 (GRCm39) missense probably damaging 1.00
R4772:Entpd6 UTSW 2 150,609,014 (GRCm39) missense probably damaging 1.00
R5026:Entpd6 UTSW 2 150,605,564 (GRCm39) missense probably damaging 1.00
R5356:Entpd6 UTSW 2 150,612,303 (GRCm39) missense probably damaging 1.00
R6944:Entpd6 UTSW 2 150,605,519 (GRCm39) missense probably damaging 1.00
R7857:Entpd6 UTSW 2 150,607,473 (GRCm39) critical splice donor site probably null
R7949:Entpd6 UTSW 2 150,612,197 (GRCm39) splice site probably null
R8955:Entpd6 UTSW 2 150,595,005 (GRCm39) missense possibly damaging 0.62
R9291:Entpd6 UTSW 2 150,608,959 (GRCm39) missense probably benign 0.07
Posted On 2014-05-07