Incidental Mutation 'IGL03087:Pi4kb'
ID418151
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pi4kb
Ensembl Gene ENSMUSG00000038861
Gene Namephosphatidylinositol 4-kinase beta
SynonymsESTM41, Pik4cb
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.963) question?
Stock #IGL03087
Quality Score
Status
Chromosome3
Chromosomal Location94974731-95006843 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 94984764 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Glycine at position 264 (R264G)
Ref Sequence ENSEMBL: ENSMUSP00000121965 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072287] [ENSMUST00000107251] [ENSMUST00000125476] [ENSMUST00000138209] [ENSMUST00000167008]
Predicted Effect probably benign
Transcript: ENSMUST00000072287
AA Change: R252G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000072134
Gene: ENSMUSG00000038861
AA Change: R252G

DomainStartEndE-ValueType
low complexity region 10 31 N/A INTRINSIC
SCOP:d1e8xa1 140 231 5e-22 SMART
PI3Kc 545 799 6.47e-105 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107251
AA Change: R252G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000102872
Gene: ENSMUSG00000038861
AA Change: R252G

DomainStartEndE-ValueType
low complexity region 10 31 N/A INTRINSIC
SCOP:d1e8xa1 140 231 5e-22 SMART
PI3Kc 560 814 6.47e-105 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000125476
AA Change: R264G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000121965
Gene: ENSMUSG00000038861
AA Change: R264G

DomainStartEndE-ValueType
low complexity region 22 43 N/A INTRINSIC
SCOP:d1e8xa1 152 243 5e-22 SMART
PI3Kc 572 826 6.47e-105 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000138209
Predicted Effect probably benign
Transcript: ENSMUST00000167008
SMART Domains Protein: ENSMUSP00000132150
Gene: ENSMUSG00000038861

DomainStartEndE-ValueType
PI3Kc 228 482 6.47e-105 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1500035N22Rik C T 5: 24,997,632 probably benign Het
Acbd5 A G 2: 23,089,710 T261A probably benign Het
Ap1g2 G A 14: 55,103,036 T331I probably damaging Het
Ap4m1 A G 5: 138,174,804 T150A probably benign Het
Arid4a G T 12: 71,075,245 R478L possibly damaging Het
Bard1 T C 1: 71,067,130 D446G probably damaging Het
Baz2a T C 10: 128,122,313 L1087P probably damaging Het
Bnc1 A G 7: 81,974,642 L279P possibly damaging Het
Bphl A T 13: 34,073,711 H275L probably damaging Het
Ces1c T C 8: 93,118,414 I120V probably benign Het
Csmd3 T A 15: 47,977,033 Y946F probably damaging Het
Dnah8 G A 17: 30,784,144 V3606I probably benign Het
Eef2 A G 10: 81,181,247 N696S probably benign Het
Eno4 A G 19: 58,962,816 H420R possibly damaging Het
Enpp1 T A 10: 24,655,881 probably benign Het
Fbxo25 T C 8: 13,924,019 probably null Het
Glt8d1 T A 14: 31,010,096 F155I probably damaging Het
Golim4 A T 3: 75,878,673 H598Q possibly damaging Het
Hnrnpdl T A 5: 100,037,601 E149D probably damaging Het
Ifngr2 G T 16: 91,563,004 *333L probably null Het
Ift88 T C 14: 57,477,957 S486P probably benign Het
Igsf9 T C 1: 172,490,743 I150T probably benign Het
Jag2 G A 12: 112,913,948 L670F possibly damaging Het
Kcnc2 T A 10: 112,455,747 I280N probably benign Het
Kif18a A G 2: 109,318,117 probably benign Het
Lct A G 1: 128,300,375 L1127P possibly damaging Het
Lonrf1 A T 8: 36,225,551 probably null Het
Lyst T A 13: 13,635,056 I437N probably damaging Het
Map3k1 A G 13: 111,749,025 S1453P probably benign Het
Mcmdc2 A G 1: 9,930,945 M482V possibly damaging Het
Mical1 T C 10: 41,482,690 S535P probably damaging Het
Myh3 T C 11: 67,090,972 F765L probably damaging Het
Nat8f6 A T 6: 85,808,517 Y217N probably damaging Het
Ndufaf1 A G 2: 119,655,799 probably benign Het
Neurod6 A T 6: 55,678,775 C292* probably null Het
Olfr1106 A T 2: 87,049,012 S75T possibly damaging Het
Olfr1255 A G 2: 89,816,671 E109G probably damaging Het
Olfr530 T A 7: 140,373,092 I173F probably damaging Het
Olfr809 A T 10: 129,776,261 M116L probably damaging Het
Olfr828 T C 9: 18,816,084 D70G probably damaging Het
Pcdhac2 A G 18: 37,145,682 N572D probably damaging Het
Pfpl A G 19: 12,428,877 N164S probably benign Het
Pla2g2c T A 4: 138,731,612 F10I probably benign Het
Rag2 G A 2: 101,630,214 V290I probably benign Het
Rhot2 G A 17: 25,841,141 probably benign Het
Rps6kc1 T C 1: 190,871,711 Y238C probably damaging Het
Scyl2 G T 10: 89,652,968 A495D possibly damaging Het
Sept4 T A 11: 87,585,245 probably benign Het
Serpina5 G T 12: 104,101,733 A18S probably benign Het
Slc25a11 T C 11: 70,645,207 T234A probably benign Het
Slc44a2 C T 9: 21,346,765 T435I probably benign Het
Tekt2 T A 4: 126,324,867 Q31L possibly damaging Het
Tfpi A G 2: 84,444,045 V199A possibly damaging Het
Trap1 G T 16: 4,044,701 probably null Het
Trmt1 A G 8: 84,695,233 Y213C probably damaging Het
Ubr4 C T 4: 139,450,357 R3184* probably null Het
Uroc1 G T 6: 90,363,103 probably benign Het
Vmn1r19 A G 6: 57,404,491 I10V probably benign Het
Zfhx2 G A 14: 55,072,845 A748V possibly damaging Het
Other mutations in Pi4kb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00424:Pi4kb APN 3 95004263 missense probably damaging 1.00
IGL01559:Pi4kb APN 3 94984129 missense probably benign 0.00
IGL03003:Pi4kb APN 3 94984812 missense probably benign 0.00
R0014:Pi4kb UTSW 3 94998897 missense probably damaging 1.00
R0196:Pi4kb UTSW 3 94998950 missense probably damaging 1.00
R0387:Pi4kb UTSW 3 94984740 missense probably benign 0.42
R0394:Pi4kb UTSW 3 94996804 intron probably benign
R0394:Pi4kb UTSW 3 94996805 intron probably benign
R1485:Pi4kb UTSW 3 94994387 missense probably damaging 0.99
R3700:Pi4kb UTSW 3 94994288 missense probably benign 0.09
R4449:Pi4kb UTSW 3 94984735 missense probably benign 0.41
R4502:Pi4kb UTSW 3 94996607 missense probably benign 0.02
R4717:Pi4kb UTSW 3 94998851 missense probably damaging 1.00
R4737:Pi4kb UTSW 3 95004338 missense probably damaging 1.00
R4763:Pi4kb UTSW 3 95004409 intron probably benign
R5322:Pi4kb UTSW 3 94994249 missense probably benign 0.04
R5427:Pi4kb UTSW 3 94994207 missense probably benign 0.09
R5622:Pi4kb UTSW 3 94998861 missense possibly damaging 0.56
R5625:Pi4kb UTSW 3 94984677 missense probably benign 0.15
R5755:Pi4kb UTSW 3 94994297 unclassified probably null
R5926:Pi4kb UTSW 3 94998996 missense probably damaging 1.00
R6904:Pi4kb UTSW 3 94993150 missense probably damaging 1.00
R6984:Pi4kb UTSW 3 94996934 missense probably damaging 1.00
R7221:Pi4kb UTSW 3 94994189 missense probably damaging 1.00
R7312:Pi4kb UTSW 3 94984577 missense probably benign 0.12
R7511:Pi4kb UTSW 3 94989312 missense probably benign 0.00
R7571:Pi4kb UTSW 3 94999114 critical splice donor site probably null
R7885:Pi4kb UTSW 3 94999076 missense probably damaging 1.00
R7968:Pi4kb UTSW 3 94999076 missense probably damaging 1.00
Z1088:Pi4kb UTSW 3 94984509 missense probably damaging 1.00
Posted On2016-08-02