Incidental Mutation 'R1579:Entpd8'
ID171258
Institutional Source Beutler Lab
Gene Symbol Entpd8
Ensembl Gene ENSMUSG00000036813
Gene Nameectonucleoside triphosphate diphosphohydrolase 8
Synonyms
MMRRC Submission 039616-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.081) question?
Stock #R1579 (G1)
Quality Score225
Status Not validated
Chromosome2
Chromosomal Location25080304-25085716 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 25084974 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 439 (D439G)
Ref Sequence ENSEMBL: ENSMUSP00000110022 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044018] [ENSMUST00000044078] [ENSMUST00000114373] [ENSMUST00000114376] [ENSMUST00000114380] [ENSMUST00000150625]
Predicted Effect probably benign
Transcript: ENSMUST00000044018
SMART Domains Protein: ENSMUSP00000037423
Gene: ENSMUSG00000036805

DomainStartEndE-ValueType
TPR 38 71 8.17e-1 SMART
TPR 72 105 1.47e-2 SMART
TPR 122 155 1.97e1 SMART
low complexity region 166 180 N/A INTRINSIC
low complexity region 258 274 N/A INTRINSIC
PB1 285 365 6.76e-9 SMART
SH3 372 427 1.81e-14 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000044078
AA Change: D439G

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000040628
Gene: ENSMUSG00000036813
AA Change: D439G

DomainStartEndE-ValueType
Pfam:GDA1_CD39 34 463 1.8e-106 PFAM
transmembrane domain 472 494 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000114373
SMART Domains Protein: ENSMUSP00000110014
Gene: ENSMUSG00000036805

DomainStartEndE-ValueType
TPR 38 71 8.17e-1 SMART
TPR 72 105 1.47e-2 SMART
TPR 122 155 1.97e1 SMART
low complexity region 166 180 N/A INTRINSIC
low complexity region 250 266 N/A INTRINSIC
PB1 277 357 6.76e-9 SMART
SH3 364 419 1.81e-14 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000114376
AA Change: D399G

PolyPhen 2 Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000110017
Gene: ENSMUSG00000036813
AA Change: D399G

DomainStartEndE-ValueType
Pfam:GDA1_CD39 34 355 1.4e-77 PFAM
Pfam:GDA1_CD39 347 423 2.1e-11 PFAM
transmembrane domain 432 454 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000114380
AA Change: D439G

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000110022
Gene: ENSMUSG00000036813
AA Change: D439G

DomainStartEndE-ValueType
Pfam:GDA1_CD39 34 465 1.1e-100 PFAM
transmembrane domain 472 494 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127384
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135004
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149470
Predicted Effect probably benign
Transcript: ENSMUST00000150625
SMART Domains Protein: ENSMUSP00000142316
Gene: ENSMUSG00000036813

DomainStartEndE-ValueType
Pfam:GDA1_CD39 1 41 8.4e-8 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152326
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700037C18Rik T C 16: 3,906,175 R162G probably benign Het
Adamtsl4 T A 3: 95,685,497 probably benign Het
Adgrv1 A T 13: 81,563,779 L306H probably damaging Het
Aknad1 T A 3: 108,752,136 Y155* probably null Het
Aldh6a1 C T 12: 84,441,848 R88H possibly damaging Het
Apc2 G C 10: 80,311,345 K715N probably damaging Het
Arhgap45 G A 10: 80,028,977 V798M probably damaging Het
BC037034 T C 5: 138,261,866 I338V probably benign Het
Calcrl T C 2: 84,333,537 T437A probably benign Het
Cdan1 A G 2: 120,730,739 F183L probably damaging Het
Chmp7 C T 14: 69,719,450 M336I probably benign Het
Cntnap4 A G 8: 112,881,830 E1294G possibly damaging Het
Crybg3 C A 16: 59,530,198 G2607V probably damaging Het
Dhx29 G T 13: 112,935,598 probably null Het
Dmrtb1 T A 4: 107,684,125 H13L probably damaging Het
Echdc2 A G 4: 108,173,809 M162V probably benign Het
Fastkd2 C G 1: 63,745,887 H477Q probably null Het
Fbrs A G 7: 127,485,357 E517G probably damaging Het
Gchfr A G 2: 119,172,021 T71A possibly damaging Het
Hecw1 A T 13: 14,377,907 C35S probably damaging Het
Izumo1r C T 9: 14,901,802 R58H probably benign Het
Kif13a T C 13: 46,752,856 E537G possibly damaging Het
Kif13b G A 14: 64,782,341 probably null Het
Kremen1 CGGG CGGGGGG 11: 5,201,791 probably benign Het
Lnpk A T 2: 74,547,996 D140E probably damaging Het
Ltbp1 A G 17: 75,252,367 M284V probably benign Het
Me3 A T 7: 89,845,842 T323S possibly damaging Het
Mtus1 A G 8: 41,082,858 V607A probably damaging Het
Myh14 A T 7: 44,655,694 probably null Het
Myo1h T A 5: 114,347,435 C545* probably null Het
Nbn T A 4: 15,964,289 D121E probably damaging Het
Nox4 A G 7: 87,370,023 Y408C probably damaging Het
Nup214 C T 2: 32,034,466 S1669F probably damaging Het
Olfr1153 G A 2: 87,896,942 A248T probably benign Het
Olfr1491 A G 19: 13,705,202 D125G probably damaging Het
Olfr653 T A 7: 104,580,061 Y138* probably null Het
Osbpl5 T C 7: 143,709,202 T150A possibly damaging Het
Pgap3 C A 11: 98,390,053 M265I probably benign Het
Pirb A T 7: 3,717,638 L287Q probably benign Het
Pkd2l2 A T 18: 34,427,393 N351I possibly damaging Het
Prkdc T A 16: 15,675,328 Y700N probably benign Het
Pzp A G 6: 128,523,968 probably null Het
Rfwd3 C T 8: 111,288,242 R326Q probably damaging Het
Rptor A T 11: 119,896,001 Q1264L probably benign Het
Scnn1a T C 6: 125,322,140 F61S probably damaging Het
Tenm2 C A 11: 36,106,783 W825C probably damaging Het
Tex264 A T 9: 106,681,917 I70N possibly damaging Het
Tns2 G T 15: 102,111,210 D504Y probably damaging Het
Trpc2 T A 7: 102,084,240 F132Y probably damaging Het
Trpm4 A G 7: 45,308,597 F816S probably damaging Het
Uqcc1 G A 2: 155,921,721 Q5* probably null Het
Usp36 G T 11: 118,284,945 T130N probably damaging Het
Vav1 A G 17: 57,297,252 M165V probably benign Het
Vmn1r64 A T 7: 5,883,804 F247I probably damaging Het
Vmn2r26 G C 6: 124,039,747 R390P probably benign Het
Vmn2r57 G T 7: 41,400,124 H734N probably benign Het
Wfdc16 G T 2: 164,635,923 H69N possibly damaging Het
Zfp316 C T 5: 143,253,562 E901K probably damaging Het
Zfp334 T C 2: 165,381,799 E108G probably damaging Het
Zfp407 T C 18: 84,209,638 S1949G probably benign Het
Zfp408 A G 2: 91,646,128 L227P probably benign Het
Zfp560 T C 9: 20,347,991 H525R possibly damaging Het
Zfp609 G A 9: 65,704,472 A403V possibly damaging Het
Other mutations in Entpd8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01329:Entpd8 APN 2 25084346 missense probably benign 0.01
IGL01679:Entpd8 APN 2 25084366 missense probably benign 0.01
IGL02540:Entpd8 APN 2 25084719 splice site probably null
IGL02803:Entpd8 APN 2 25085139 missense probably damaging 1.00
IGL02876:Entpd8 APN 2 25085060 missense probably benign 0.32
R0531:Entpd8 UTSW 2 25084769 missense probably damaging 1.00
R1680:Entpd8 UTSW 2 25084024 missense probably damaging 1.00
R1780:Entpd8 UTSW 2 25084306 missense probably benign 0.15
R2228:Entpd8 UTSW 2 25085016 missense probably damaging 0.99
R4979:Entpd8 UTSW 2 25082955 missense possibly damaging 0.90
R5076:Entpd8 UTSW 2 25085054 missense possibly damaging 0.60
R5276:Entpd8 UTSW 2 25085045 missense probably benign 0.01
R5695:Entpd8 UTSW 2 25084334 missense probably benign 0.16
Predicted Primers PCR Primer
(F):5'- GGGCTACAAATTCAGTGAGGAGACC -3'
(R):5'- AGGCATCTAGGATCTGCTCAGAAGG -3'

Sequencing Primer
(F):5'- CTGGCCCAACATCCAGTTC -3'
(R):5'- GATCTGCTCAGAAGGTCCTG -3'
Posted On2014-04-13