Incidental Mutation 'IGL00960:Entpd1'
ID29534
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Entpd1
Ensembl Gene ENSMUSG00000048120
Gene Nameectonucleoside triphosphate diphosphohydrolase 1
Synonyms2610206B08Rik, Cd39, ectoapyrase, NTPDase-1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00960
Quality Score
Status
Chromosome19
Chromosomal Location40612366-40741602 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 40711270 bp
ZygosityHeterozygous
Amino Acid Change Proline to Serine at position 42 (P42S)
Ref Sequence ENSEMBL: ENSMUSP00000107850 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112231] [ENSMUST00000127828] [ENSMUST00000134063] [ENSMUST00000156598]
Predicted Effect probably benign
Transcript: ENSMUST00000112231
AA Change: P42S

PolyPhen 2 Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000107850
Gene: ENSMUSG00000048120
AA Change: P42S

DomainStartEndE-ValueType
Pfam:GDA1_CD39 40 471 7.8e-160 PFAM
transmembrane domain 477 499 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000127828
SMART Domains Protein: ENSMUSP00000117213
Gene: ENSMUSG00000048120

DomainStartEndE-ValueType
Pfam:GDA1_CD39 1 63 1.2e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000134063
AA Change: P71S

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000116285
Gene: ENSMUSG00000048120
AA Change: P71S

DomainStartEndE-ValueType
Pfam:GDA1_CD39 69 500 6.9e-170 PFAM
transmembrane domain 506 528 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137508
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144080
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155988
Predicted Effect probably benign
Transcript: ENSMUST00000156598
AA Change: P42S

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000116349
Gene: ENSMUSG00000048120
AA Change: P42S

DomainStartEndE-ValueType
Pfam:GDA1_CD39 40 281 6.1e-101 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a plasma membrane protein that hydrolyzes extracellular ATP and ADP to AMP. Inhibition of this protein's activity may confer anticancer benefits. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2015]
PHENOTYPE: Mice homozygous for disruptions in this gene display abnormalities in muscle contraction, synaptic transmitter release and blood coagulation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc10 C A 17: 46,323,745 R444L probably damaging Het
Baiap2 T A 11: 119,999,292 S460T possibly damaging Het
Cckar A G 5: 53,701,292 Y158H probably damaging Het
Cdk4 A G 10: 127,064,297 Y21C probably damaging Het
Epha8 A T 4: 136,951,839 probably null Het
Fastkd1 A T 2: 69,694,653 probably benign Het
Fmnl2 A G 2: 53,123,482 D951G probably damaging Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Kcnj5 T A 9: 32,322,423 T199S probably damaging Het
Med13 T C 11: 86,291,040 probably benign Het
Mycbp2 G T 14: 103,229,384 H1314Q possibly damaging Het
Ncapd2 A T 6: 125,173,848 S795T probably benign Het
Nf1 T C 11: 79,445,121 S1042P probably damaging Het
Nlgn1 C A 3: 25,912,697 L197F probably damaging Het
Nsun7 A G 5: 66,289,503 Y428C probably benign Het
Olfr976 A G 9: 39,956,159 Y259H probably damaging Het
Parp14 T C 16: 35,841,219 D1453G probably benign Het
Pcdhb8 A T 18: 37,355,973 I235F probably benign Het
Pclo T C 5: 14,675,220 V1364A unknown Het
Polq T C 16: 37,060,512 S734P probably damaging Het
Sco1 T C 11: 67,064,038 *290Q probably null Het
Slc22a3 A T 17: 12,425,610 I496N probably damaging Het
Slc5a8 T G 10: 88,921,765 I539S probably benign Het
Tecta A G 9: 42,359,080 F1311L possibly damaging Het
Tex261 A T 6: 83,775,668 I19N possibly damaging Het
Tfr2 T C 5: 137,571,692 V120A probably benign Het
Vmn2r71 A T 7: 85,624,374 S799C probably damaging Het
Zar1 G A 5: 72,577,285 T197I probably damaging Het
Zfa-ps A G 10: 52,543,947 noncoding transcript Het
Other mutations in Entpd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02624:Entpd1 APN 19 40726058 nonsense probably null
IGL02893:Entpd1 APN 19 40727517 missense probably damaging 0.99
R0413:Entpd1 UTSW 19 40711285 missense probably benign
R0626:Entpd1 UTSW 19 40727325 missense probably benign 0.36
R0666:Entpd1 UTSW 19 40659906 splice site probably benign
R1460:Entpd1 UTSW 19 40726188 missense probably damaging 1.00
R1518:Entpd1 UTSW 19 40725063 nonsense probably null
R1710:Entpd1 UTSW 19 40726236 missense probably benign 0.00
R1757:Entpd1 UTSW 19 40739006 missense probably benign 0.01
R1759:Entpd1 UTSW 19 40612524 critical splice donor site probably null
R2143:Entpd1 UTSW 19 40736783 missense probably damaging 1.00
R3876:Entpd1 UTSW 19 40736820 missense probably damaging 1.00
R4937:Entpd1 UTSW 19 40739521 unclassified probably benign
R5082:Entpd1 UTSW 19 40725029 unclassified probably null
R5764:Entpd1 UTSW 19 40738973 intron probably null
R5906:Entpd1 UTSW 19 40738839 missense probably damaging 1.00
R6052:Entpd1 UTSW 19 40720484 missense probably damaging 1.00
R7154:Entpd1 UTSW 19 40724986 missense probably damaging 0.99
R7408:Entpd1 UTSW 19 40738865 missense possibly damaging 0.50
R7814:Entpd1 UTSW 19 40727447 missense probably damaging 1.00
W0251:Entpd1 UTSW 19 40726253 missense probably damaging 0.96
Z1176:Entpd1 UTSW 19 40738964 missense probably benign 0.02
Posted On2013-04-17