Incidental Mutation 'R8079:Pi4ka'
ID 629239
Institutional Source Beutler Lab
Gene Symbol Pi4ka
Ensembl Gene ENSMUSG00000041720
Gene Name phosphatidylinositol 4-kinase alpha
Synonyms Pik4ca
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8079 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
Chromosomal Location 17098215-17224178 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 17120924 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 1270 (M1270K)
Ref Sequence ENSEMBL: ENSMUSP00000036162 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036161] [ENSMUST00000232232]
AlphaFold no structure available at present
Predicted Effect
SMART Domains Protein: ENSMUSP00000036162
Gene: ENSMUSG00000041720
AA Change: M1270K

DomainStartEndE-ValueType
low complexity region 198 221 N/A INTRINSIC
low complexity region 243 253 N/A INTRINSIC
SCOP:d1gw5a_ 268 675 2e-3 SMART
low complexity region 895 907 N/A INTRINSIC
PI3Ka 1483 1671 2.11e-54 SMART
Blast:PI3Kc 1688 1762 2e-39 BLAST
PI3Kc 1788 2041 4.04e-106 SMART
Predicted Effect
Predicted Effect
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 99.0%
  • 20x: 96.5%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a phosphatidylinositol (PI) 4-kinase which catalyzes the first committed step in the biosynthesis of phosphatidylinositol 4,5-bisphosphate. The mammalian PI 4-kinases have been classified into two types, II and III, based on their molecular mass, and modulation by detergent and adenosine. The protein encoded by this gene is a type III enzyme that is not inhibited by adenosine. [provided by RefSeq, Sep 2014]
PHENOTYPE: Mice homozygous for a targeted knock-out or knock-in conditionally activated exhibit premature death associated with degeneration of mucosal cells in the stomach and intestines. Mice homozygous for a knock-out allele exhibit early embryonic lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb9 A G 5: 124,221,186 (GRCm39) I255T possibly damaging Het
Ablim1 A T 19: 57,170,656 (GRCm39) probably null Het
Akap10 G A 11: 61,820,880 (GRCm39) P8L possibly damaging Het
Ankle2 C T 5: 110,379,182 (GRCm39) A27V probably damaging Het
Anxa8 A G 14: 33,816,769 (GRCm39) T246A probably benign Het
Arhgap5 A G 12: 52,613,988 (GRCm39) N1460S probably benign Het
Arid5b T G 10: 67,934,186 (GRCm39) D572A possibly damaging Het
Atrn T A 2: 130,855,561 (GRCm39) L1278Q probably null Het
AU040320 G T 4: 126,725,953 (GRCm39) K454N possibly damaging Het
Baz2b T A 2: 59,731,112 (GRCm39) R2085W probably damaging Het
Bbx A T 16: 50,030,821 (GRCm39) N649K probably damaging Het
BC034090 G A 1: 155,101,032 (GRCm39) P411S probably damaging Het
Calcoco2 A T 11: 95,998,363 (GRCm39) F20Y probably damaging Het
Carmil2 A G 8: 106,413,393 (GRCm39) R50G probably damaging Het
Catspere2 A G 1: 177,874,525 (GRCm39) T131A probably benign Het
Cdcp1 C A 9: 123,002,855 (GRCm39) V739L probably damaging Het
Chit1 A G 1: 134,071,765 (GRCm39) T92A possibly damaging Het
Clstn3 A G 6: 124,436,763 (GRCm39) I185T probably damaging Het
Dctpp1 C A 7: 126,858,561 (GRCm39) V61L probably damaging Het
Dip2a T C 10: 76,123,155 (GRCm39) T760A probably benign Het
Dock10 C T 1: 80,556,421 (GRCm39) V552I probably benign Het
Dpp8 A G 9: 64,951,017 (GRCm39) E151G probably damaging Het
Dvl2 G C 11: 69,898,344 (GRCm39) R367P possibly damaging Het
Fem1b A T 9: 62,703,643 (GRCm39) I539N probably damaging Het
Frat2 A T 19: 41,836,277 (GRCm39) L25H probably damaging Het
Garnl3 A T 2: 32,908,511 (GRCm39) probably null Het
Gh T C 11: 106,192,253 (GRCm39) H47R possibly damaging Het
Glmp T C 3: 88,233,045 (GRCm39) V61A probably damaging Het
Gm9925 T C 18: 74,198,558 (GRCm39) V129A unknown Het
H2-M9 T A 17: 36,953,025 (GRCm39) E94V probably benign Het
Hira A T 16: 18,744,507 (GRCm39) Q408L probably benign Het
Hook3 A G 8: 26,578,086 (GRCm39) probably null Het
Ifi206 G A 1: 173,308,724 (GRCm39) P424L Het
Impdh2 T C 9: 108,440,524 (GRCm39) V270A probably benign Het
Klhl14 A G 18: 21,785,022 (GRCm39) I135T probably benign Het
Klra10 C A 6: 130,252,738 (GRCm39) V179L probably benign Het
Kmt2c T C 5: 25,507,730 (GRCm39) S3236G probably damaging Het
Krt76 G T 15: 101,796,825 (GRCm39) A358D possibly damaging Het
Lacc1 C A 14: 77,266,992 (GRCm39) G424C probably damaging Het
Limch1 A G 5: 67,204,096 (GRCm39) I878V possibly damaging Het
Lipi C T 16: 75,362,418 (GRCm39) probably null Het
Lrrc17 C T 5: 21,766,069 (GRCm39) R184W probably damaging Het
Mllt10 A G 2: 18,128,567 (GRCm39) N183D probably damaging Het
Mterf2 C T 10: 84,956,027 (GRCm39) G199D probably damaging Het
Mucl3 T C 17: 35,949,084 (GRCm39) T172A unknown Het
Nat8f4 A T 6: 85,877,976 (GRCm39) S182R probably benign Het
Ndrg3 C A 2: 156,779,452 (GRCm39) E238* probably null Het
Nop14 A T 5: 34,811,805 (GRCm39) L194H probably damaging Het
Obscn T C 11: 58,972,731 (GRCm39) E2105G possibly damaging Het
Or5b104 A C 19: 13,072,648 (GRCm39) Y121* probably null Het
Or5g9 A T 2: 85,552,387 (GRCm39) T213S probably benign Het
Or7g17 A T 9: 18,768,725 (GRCm39) Y259F possibly damaging Het
Or8k32 T A 2: 86,368,725 (GRCm39) H176L possibly damaging Het
Pbx3 C T 2: 34,068,240 (GRCm39) A320T probably benign Het
Pcdhac2 A T 18: 37,279,197 (GRCm39) S726C probably damaging Het
Pcdhgb2 A G 18: 37,823,816 (GRCm39) D269G probably damaging Het
Pcgf6 A T 19: 47,034,271 (GRCm39) S257T probably damaging Het
Pclo A T 5: 14,590,472 (GRCm39) H924L unknown Het
Per3 T A 4: 151,127,135 (GRCm39) T129S possibly damaging Het
Plec G A 15: 76,063,750 (GRCm39) Q2277* probably null Het
Pnma1 T A 12: 84,194,109 (GRCm39) K198M probably damaging Het
Prc1 T A 7: 79,954,515 (GRCm39) F196L possibly damaging Het
Prkcz T C 4: 155,441,962 (GRCm39) T57A probably damaging Het
Repin1 G T 6: 48,574,279 (GRCm39) E403* probably null Het
Robo4 A G 9: 37,313,931 (GRCm39) M61V possibly damaging Het
Rps12 C T 10: 23,661,575 (GRCm39) V79I probably benign Het
Rsph3a A G 17: 8,198,020 (GRCm39) K466E probably benign Het
Scly A T 1: 91,236,089 (GRCm39) I168F probably damaging Het
Setd1a T A 7: 127,384,225 (GRCm39) F359I unknown Het
Sh3tc1 A G 5: 35,864,201 (GRCm39) L662P possibly damaging Het
Slc12a5 T C 2: 164,834,372 (GRCm39) W798R probably damaging Het
Slc16a6 C T 11: 109,364,281 (GRCm39) R13Q unknown Het
Slco1a8 T G 6: 141,933,460 (GRCm39) M462L probably benign Het
Smarcad1 A G 6: 65,029,766 (GRCm39) D118G possibly damaging Het
Sos2 T C 12: 69,653,989 (GRCm39) T788A probably damaging Het
Syvn1 A G 19: 6,098,396 (GRCm39) E75G probably null Het
Thpo T C 16: 20,545,144 (GRCm39) E103G probably benign Het
Trav7d-3 A T 14: 52,982,193 (GRCm39) E78V possibly damaging Het
Uap1 A G 1: 169,986,332 (GRCm39) S217P probably damaging Het
Unc45a T G 7: 79,981,310 (GRCm39) R497S probably damaging Het
Upf1 A G 8: 70,791,534 (GRCm39) probably null Het
Usp47 A T 7: 111,646,177 (GRCm39) K28M probably damaging Het
Wdr72 A C 9: 74,126,054 (GRCm39) T1062P probably damaging Het
Wnt7b A T 15: 85,421,646 (GRCm39) C339S probably damaging Het
Zfp954 G T 7: 7,118,470 (GRCm39) T358K probably benign Het
Zmynd15 G T 11: 70,350,278 (GRCm39) probably benign Het
Other mutations in Pi4ka
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00580:Pi4ka APN 16 17,126,008 (GRCm39) missense probably benign
IGL00984:Pi4ka APN 16 17,176,796 (GRCm39) nonsense probably null
IGL01066:Pi4ka APN 16 17,166,637 (GRCm39) splice site probably benign
IGL01460:Pi4ka APN 16 17,175,515 (GRCm39) missense probably damaging 1.00
IGL01505:Pi4ka APN 16 17,127,222 (GRCm39) missense probably benign 0.22
IGL01518:Pi4ka APN 16 17,098,599 (GRCm39) missense probably benign 0.03
IGL01533:Pi4ka APN 16 17,126,065 (GRCm39) missense probably benign 0.30
IGL01565:Pi4ka APN 16 17,207,306 (GRCm39) utr 5 prime probably benign
IGL01679:Pi4ka APN 16 17,114,752 (GRCm39) splice site probably benign
IGL01685:Pi4ka APN 16 17,143,066 (GRCm39) missense probably benign 0.09
IGL01734:Pi4ka APN 16 17,115,124 (GRCm39) missense probably benign 0.23
IGL01799:Pi4ka APN 16 17,207,235 (GRCm39) missense probably damaging 1.00
IGL01969:Pi4ka APN 16 17,196,347 (GRCm39) missense probably benign 0.15
IGL02092:Pi4ka APN 16 17,136,360 (GRCm39) missense probably benign 0.00
IGL02113:Pi4ka APN 16 17,191,279 (GRCm39) missense probably benign 0.00
IGL02177:Pi4ka APN 16 17,136,146 (GRCm39) missense probably benign 0.09
IGL02400:Pi4ka APN 16 17,111,748 (GRCm39) missense probably damaging 0.98
IGL02426:Pi4ka APN 16 17,196,296 (GRCm39) splice site probably benign
IGL02474:Pi4ka APN 16 17,143,293 (GRCm39) missense probably damaging 1.00
IGL02587:Pi4ka APN 16 17,135,217 (GRCm39) missense probably damaging 1.00
IGL02667:Pi4ka APN 16 17,113,325 (GRCm39) missense possibly damaging 0.82
IGL02698:Pi4ka APN 16 17,109,032 (GRCm39) missense probably damaging 1.00
IGL02815:Pi4ka APN 16 17,176,753 (GRCm39) splice site probably benign
IGL02828:Pi4ka APN 16 17,098,575 (GRCm39) intron probably benign
IGL02939:Pi4ka APN 16 17,172,074 (GRCm39) missense probably damaging 0.97
IGL03123:Pi4ka APN 16 17,100,539 (GRCm39) missense possibly damaging 0.95
IGL03148:Pi4ka APN 16 17,172,053 (GRCm39) missense probably damaging 0.99
arachnoid UTSW 16 17,103,145 (GRCm39) unclassified probably benign
dove_bar UTSW 16 17,143,916 (GRCm39) splice site probably null
mia UTSW 16 17,194,846 (GRCm39) missense possibly damaging 0.89
Pia UTSW 16 17,098,908 (GRCm39) missense probably damaging 1.00
G1patch:Pi4ka UTSW 16 17,194,846 (GRCm39) missense possibly damaging 0.89
IGL03098:Pi4ka UTSW 16 17,143,891 (GRCm39) missense probably damaging 1.00
R0024:Pi4ka UTSW 16 17,133,399 (GRCm39) splice site probably benign
R0054:Pi4ka UTSW 16 17,142,978 (GRCm39) missense probably null 1.00
R0054:Pi4ka UTSW 16 17,142,978 (GRCm39) missense probably null 1.00
R0243:Pi4ka UTSW 16 17,115,499 (GRCm39) missense probably benign 0.44
R0374:Pi4ka UTSW 16 17,100,796 (GRCm39) unclassified probably benign
R0478:Pi4ka UTSW 16 17,127,175 (GRCm39) missense possibly damaging 0.92
R0548:Pi4ka UTSW 16 17,125,582 (GRCm39) missense possibly damaging 0.75
R0626:Pi4ka UTSW 16 17,111,765 (GRCm39) missense probably benign 0.00
R0918:Pi4ka UTSW 16 17,103,124 (GRCm39) missense possibly damaging 0.61
R1082:Pi4ka UTSW 16 17,207,216 (GRCm39) missense probably damaging 1.00
R1384:Pi4ka UTSW 16 17,115,401 (GRCm39) splice site probably benign
R1455:Pi4ka UTSW 16 17,181,818 (GRCm39) missense probably benign 0.02
R1479:Pi4ka UTSW 16 17,191,264 (GRCm39) missense probably benign 0.08
R1490:Pi4ka UTSW 16 17,204,132 (GRCm39) missense probably damaging 1.00
R1565:Pi4ka UTSW 16 17,099,764 (GRCm39) missense probably null
R1594:Pi4ka UTSW 16 17,191,283 (GRCm39) splice site probably benign
R1641:Pi4ka UTSW 16 17,194,894 (GRCm39) missense probably benign 0.00
R1694:Pi4ka UTSW 16 17,113,240 (GRCm39) missense probably damaging 0.99
R1828:Pi4ka UTSW 16 17,098,614 (GRCm39) missense probably benign 0.00
R1864:Pi4ka UTSW 16 17,185,389 (GRCm39) nonsense probably null
R2036:Pi4ka UTSW 16 17,120,976 (GRCm39) missense probably damaging 1.00
R2151:Pi4ka UTSW 16 17,185,371 (GRCm39) missense probably benign 0.44
R2844:Pi4ka UTSW 16 17,168,657 (GRCm39) missense probably damaging 0.97
R2876:Pi4ka UTSW 16 17,185,414 (GRCm39) missense possibly damaging 0.77
R3953:Pi4ka UTSW 16 17,103,145 (GRCm39) unclassified probably benign
R3972:Pi4ka UTSW 16 17,111,739 (GRCm39) missense probably damaging 1.00
R4357:Pi4ka UTSW 16 17,185,303 (GRCm39) missense probably benign 0.00
R4385:Pi4ka UTSW 16 17,204,129 (GRCm39) missense probably benign 0.13
R4427:Pi4ka UTSW 16 17,098,908 (GRCm39) missense probably damaging 1.00
R4436:Pi4ka UTSW 16 17,100,246 (GRCm39) missense probably damaging 1.00
R4677:Pi4ka UTSW 16 17,100,237 (GRCm39) missense probably damaging 1.00
R4683:Pi4ka UTSW 16 17,114,901 (GRCm39) missense possibly damaging 0.73
R4736:Pi4ka UTSW 16 17,195,039 (GRCm39) missense probably benign 0.12
R4804:Pi4ka UTSW 16 17,126,025 (GRCm39) missense possibly damaging 0.75
R4886:Pi4ka UTSW 16 17,176,225 (GRCm39) missense
R4893:Pi4ka UTSW 16 17,194,900 (GRCm39) missense probably benign 0.21
R4896:Pi4ka UTSW 16 17,195,033 (GRCm39) missense probably damaging 1.00
R5004:Pi4ka UTSW 16 17,195,033 (GRCm39) missense probably damaging 1.00
R5015:Pi4ka UTSW 16 17,120,946 (GRCm39) missense possibly damaging 0.56
R5062:Pi4ka UTSW 16 17,127,261 (GRCm39) missense probably benign 0.02
R5104:Pi4ka UTSW 16 17,098,914 (GRCm39) missense probably damaging 1.00
R5160:Pi4ka UTSW 16 17,140,917 (GRCm39) missense probably benign 0.01
R5173:Pi4ka UTSW 16 17,168,770 (GRCm39) missense possibly damaging 0.95
R5204:Pi4ka UTSW 16 17,176,909 (GRCm39) missense possibly damaging 0.68
R5307:Pi4ka UTSW 16 17,140,894 (GRCm39) missense probably benign 0.00
R5327:Pi4ka UTSW 16 17,143,277 (GRCm39) missense probably damaging 1.00
R5506:Pi4ka UTSW 16 17,111,817 (GRCm39) missense probably damaging 0.96
R5580:Pi4ka UTSW 16 17,098,951 (GRCm39) missense probably damaging 1.00
R5768:Pi4ka UTSW 16 17,172,736 (GRCm39) missense probably benign 0.29
R5857:Pi4ka UTSW 16 17,176,848 (GRCm39) missense probably benign 0.00
R5951:Pi4ka UTSW 16 17,121,006 (GRCm39) missense probably damaging 1.00
R5953:Pi4ka UTSW 16 17,099,815 (GRCm39) missense
R6041:Pi4ka UTSW 16 17,178,436 (GRCm39) missense probably benign
R6223:Pi4ka UTSW 16 17,175,435 (GRCm39) nonsense probably null
R6416:Pi4ka UTSW 16 17,176,186 (GRCm39) missense probably benign 0.22
R6535:Pi4ka UTSW 16 17,118,900 (GRCm39) missense probably damaging 1.00
R6580:Pi4ka UTSW 16 17,168,694 (GRCm39) missense probably damaging 1.00
R6720:Pi4ka UTSW 16 17,143,916 (GRCm39) splice site probably null
R6723:Pi4ka UTSW 16 17,194,846 (GRCm39) missense possibly damaging 0.89
R6725:Pi4ka UTSW 16 17,194,846 (GRCm39) missense possibly damaging 0.89
R6752:Pi4ka UTSW 16 17,194,846 (GRCm39) missense possibly damaging 0.89
R6753:Pi4ka UTSW 16 17,194,846 (GRCm39) missense possibly damaging 0.89
R6755:Pi4ka UTSW 16 17,194,846 (GRCm39) missense possibly damaging 0.89
R6767:Pi4ka UTSW 16 17,194,846 (GRCm39) missense possibly damaging 0.89
R6768:Pi4ka UTSW 16 17,194,846 (GRCm39) missense possibly damaging 0.89
R6782:Pi4ka UTSW 16 17,194,846 (GRCm39) missense possibly damaging 0.89
R6782:Pi4ka UTSW 16 17,143,852 (GRCm39) missense probably damaging 1.00
R6788:Pi4ka UTSW 16 17,194,846 (GRCm39) missense possibly damaging 0.89
R6849:Pi4ka UTSW 16 17,121,285 (GRCm39) missense possibly damaging 0.54
R6958:Pi4ka UTSW 16 17,143,091 (GRCm39) missense probably damaging 1.00
R7014:Pi4ka UTSW 16 17,114,931 (GRCm39) unclassified probably benign
R7055:Pi4ka UTSW 16 17,134,879 (GRCm39) utr 3 prime probably benign
R7317:Pi4ka UTSW 16 17,223,496 (GRCm39) critical splice donor site probably null
R7533:Pi4ka UTSW 16 17,115,525 (GRCm39) missense
R7552:Pi4ka UTSW 16 17,109,080 (GRCm39) missense
R7581:Pi4ka UTSW 16 17,118,924 (GRCm39) missense
R7622:Pi4ka UTSW 16 17,111,841 (GRCm39) missense
R7717:Pi4ka UTSW 16 17,194,787 (GRCm39) missense
R8048:Pi4ka UTSW 16 17,120,991 (GRCm39) missense
R8052:Pi4ka UTSW 16 17,174,030 (GRCm39) missense
R8123:Pi4ka UTSW 16 17,098,956 (GRCm39) missense
R8211:Pi4ka UTSW 16 17,100,769 (GRCm39) missense
R8310:Pi4ka UTSW 16 17,171,912 (GRCm39) critical splice donor site probably null
R8322:Pi4ka UTSW 16 17,175,437 (GRCm39) missense
R8509:Pi4ka UTSW 16 17,172,008 (GRCm39) missense
R8735:Pi4ka UTSW 16 17,136,234 (GRCm39) missense
R8912:Pi4ka UTSW 16 17,207,230 (GRCm39) missense
R8917:Pi4ka UTSW 16 17,130,310 (GRCm39) missense
R8921:Pi4ka UTSW 16 17,125,604 (GRCm39) missense
R8941:Pi4ka UTSW 16 17,114,807 (GRCm39) unclassified probably benign
R9002:Pi4ka UTSW 16 17,117,317 (GRCm39) missense
R9203:Pi4ka UTSW 16 17,100,165 (GRCm39) missense
R9222:Pi4ka UTSW 16 17,176,225 (GRCm39) missense
R9230:Pi4ka UTSW 16 17,099,788 (GRCm39) missense
R9262:Pi4ka UTSW 16 17,120,859 (GRCm39) missense
R9338:Pi4ka UTSW 16 17,135,227 (GRCm39) missense
R9374:Pi4ka UTSW 16 17,125,574 (GRCm39) missense
R9436:Pi4ka UTSW 16 17,125,670 (GRCm39) missense
R9499:Pi4ka UTSW 16 17,125,574 (GRCm39) missense
R9501:Pi4ka UTSW 16 17,204,156 (GRCm39) missense
R9551:Pi4ka UTSW 16 17,125,574 (GRCm39) missense
R9705:Pi4ka UTSW 16 17,099,815 (GRCm39) missense
RF007:Pi4ka UTSW 16 17,115,097 (GRCm39) missense
U24488:Pi4ka UTSW 16 17,143,040 (GRCm39) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- ATAGGATTTACTCTACACTGCAGAGC -3'
(R):5'- AGCTTTGTAGGGACAGCCTTG -3'

Sequencing Primer
(F):5'- TGCAGAGCAGCATCGCAG -3'
(R):5'- ACAGCCTTGGGGACACTTG -3'
Posted On 2020-06-30