Incidental Mutation 'IGL01329:Entpd8'
ID74418
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Entpd8
Ensembl Gene ENSMUSG00000036813
Gene Nameectonucleoside triphosphate diphosphohydrolase 8
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01329
Quality Score
Status
Chromosome2
Chromosomal Location25080304-25085716 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 25084346 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Arginine at position 381 (K381R)
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 probably benign
Transcript: ENSMUST00000044078
AA Change: K381R

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000040628
Gene: ENSMUSG00000036813
AA Change: K381R

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 probably benign
Transcript: ENSMUST00000114376
SMART Domains Protein: ENSMUSP00000110017
Gene: ENSMUSG00000036813

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 probably benign
Transcript: ENSMUST00000114380
AA Change: K381R

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000110022
Gene: ENSMUSG00000036813
AA Change: K381R

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
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700028P14Rik A G 19: 23,652,736 probably benign Het
Abcb4 T C 5: 8,894,166 probably null Het
Ankib1 A T 5: 3,734,194 probably benign Het
Birc3 T C 9: 7,860,732 Y195C probably damaging Het
Cand2 T C 6: 115,782,794 I142T probably benign Het
Cd163l1 T A 7: 140,224,639 probably null Het
Cdh15 T C 8: 122,865,323 probably benign Het
Ceacam5 G A 7: 17,745,609 G217D probably damaging Het
Cfap54 T A 10: 93,081,523 H25L unknown Het
Col22a1 A G 15: 71,907,040 V266A probably benign Het
D3Ertd751e A G 3: 41,748,697 D69G probably benign Het
Dnah3 T C 7: 120,022,941 I1518V probably damaging Het
Fli1 T A 9: 32,424,101 K345I probably damaging Het
G6pd2 T C 5: 61,809,938 V352A probably damaging Het
Gbp11 C T 5: 105,327,616 probably null Het
Gm11992 A G 11: 9,068,383 *292W probably null Het
Ifnar2 T A 16: 91,391,711 probably benign Het
Impg1 T C 9: 80,322,829 K661R probably benign Het
Inf2 G T 12: 112,611,856 E651* probably null Het
Ints1 A G 5: 139,767,503 probably benign Het
Iqcf4 T C 9: 106,570,633 K26E probably benign Het
Map4k3 A G 17: 80,644,184 V289A probably benign Het
Mis18bp1 T C 12: 65,158,441 K319R possibly damaging Het
Nubpl T C 12: 52,305,855 V291A probably damaging Het
Olfr1085 T C 2: 86,658,207 N84D probably benign Het
Olfr1305 A G 2: 111,872,950 F302L probably benign Het
Olfr726 C T 14: 50,083,997 R228H probably benign Het
Olfr983 A G 9: 40,092,028 S313P possibly damaging Het
Otof A G 5: 30,441,379 S29P probably benign Het
Pcca A G 14: 122,690,133 D436G possibly damaging Het
Rasef T A 4: 73,727,645 T496S probably damaging Het
Saa2 A G 7: 46,753,472 D49G probably benign Het
Scn2a A G 2: 65,717,508 I1015V probably benign Het
Sim2 T C 16: 94,106,260 Y154H possibly damaging Het
Spag17 A G 3: 100,095,549 H1863R probably benign Het
Supt16 C T 14: 52,177,032 E438K probably benign Het
Svil A G 18: 5,064,501 E1111G probably benign Het
Trabd2b T C 4: 114,409,125 V112A probably damaging Het
Vmn1r205 T C 13: 22,592,103 I276M probably benign Het
Vps13d A T 4: 145,156,206 I939N possibly damaging Het
Zc3h11a T C 1: 133,625,862 M515V probably benign Het
Zfp457 T C 13: 67,294,266 T82A possibly damaging Het
Other mutations in Entpd8
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R1579:Entpd8 UTSW 2 25084974 missense possibly damaging 0.94
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
R6994:Entpd8 UTSW 2 25083309 missense probably damaging 0.98
Posted On2013-10-07