Incidental Mutation 'R1485:Pi4kb'
ID 163378
Institutional Source Beutler Lab
Gene Symbol Pi4kb
Ensembl Gene ENSMUSG00000038861
Gene Name phosphatidylinositol 4-kinase beta
Synonyms Pik4cb, ESTM41
MMRRC Submission 039538-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.966) question?
Stock # R1485 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 94882042-94914154 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 94901698 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 455 (E455G)
Ref Sequence ENSEMBL: ENSMUSP00000072134 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072287] [ENSMUST00000107251] [ENSMUST00000125476] [ENSMUST00000133297] [ENSMUST00000138209] [ENSMUST00000167008]
AlphaFold Q8BKC8
Predicted Effect probably damaging
Transcript: ENSMUST00000072287
AA Change: E455G

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000072134
Gene: ENSMUSG00000038861
AA Change: E455G

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: E470G

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000102872
Gene: ENSMUSG00000038861
AA Change: E470G

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: E482G

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000121965
Gene: ENSMUSG00000038861
AA Change: E482G

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: ENSMUST00000133297
SMART Domains Protein: ENSMUSP00000123529
Gene: ENSMUSG00000038861

DomainStartEndE-ValueType
PI3Kc 1 225 7.13e-43 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133494
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135483
Predicted Effect probably benign
Transcript: ENSMUST00000138209
AA Change: E138G

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
Predicted Effect probably benign
Transcript: ENSMUST00000167008
AA Change: E138G

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000132150
Gene: ENSMUSG00000038861
AA Change: E138G

DomainStartEndE-ValueType
PI3Kc 228 482 6.47e-105 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141787
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143287
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.1%
  • 20x: 92.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A G 13: 81,727,738 (GRCm39) S301P probably damaging Het
AI987944 C A 7: 41,023,954 (GRCm39) G342* probably null Het
Alox5 A T 6: 116,401,125 (GRCm39) F212I probably damaging Het
Apaf1 A T 10: 90,896,105 (GRCm39) D322E probably benign Het
Aste1 T A 9: 105,275,009 (GRCm39) Y355* probably null Het
Bloc1s6 T G 2: 122,588,063 (GRCm39) probably null Het
Bltp2 A G 11: 78,176,406 (GRCm39) Y1836C probably damaging Het
Castor2 T A 5: 134,165,972 (GRCm39) L240Q probably damaging Het
Ccdc77 G A 6: 120,315,101 (GRCm39) Q183* probably null Het
Ccdc92 T C 5: 124,913,335 (GRCm39) T65A probably benign Het
Chrna2 C T 14: 66,380,812 (GRCm39) A27V probably benign Het
Coch G T 12: 51,645,072 (GRCm39) V209F probably damaging Het
Cops3 G A 11: 59,718,715 (GRCm39) T193M possibly damaging Het
Cped1 T C 6: 22,132,387 (GRCm39) probably null Het
D6Ertd527e A T 6: 87,088,067 (GRCm39) S77C unknown Het
Defb7 A G 8: 19,545,110 (GRCm39) probably null Het
Dnaaf9 A G 2: 130,590,603 (GRCm39) probably null Het
Entpd6 T A 2: 150,610,843 (GRCm39) probably null Het
Evc2 C T 5: 37,527,900 (GRCm39) A303V probably benign Het
Fhod1 T C 8: 106,063,430 (GRCm39) probably null Het
Gcn1 T A 5: 115,712,676 (GRCm39) F54I probably benign Het
Gm7104 C A 12: 88,252,333 (GRCm39) noncoding transcript Het
Grid1 A T 14: 34,544,540 (GRCm39) D37V probably damaging Het
Icam5 G A 9: 20,947,702 (GRCm39) A560T probably benign Het
Igf2r A C 17: 12,910,172 (GRCm39) I2019S probably damaging Het
Kcnj9 A G 1: 172,153,929 (GRCm39) V65A probably benign Het
Kif3b T C 2: 153,164,851 (GRCm39) probably null Het
Kmt2a T G 9: 44,738,225 (GRCm39) probably benign Het
Marchf6 T A 15: 31,498,839 (GRCm39) T153S probably damaging Het
Mcam T A 9: 44,048,060 (GRCm39) I72N probably damaging Het
Ncoa4-ps A G 12: 119,224,785 (GRCm39) noncoding transcript Het
Nkain3 T C 4: 20,484,932 (GRCm39) I48M probably damaging Het
Nop58 T A 1: 59,737,504 (GRCm39) I107N probably damaging Het
Notch2 A G 3: 98,007,573 (GRCm39) H441R probably benign Het
Nr1d1 G A 11: 98,661,187 (GRCm39) R360C probably benign Het
Or56a5 A G 7: 104,792,888 (GRCm39) I210T probably benign Het
Pclo T C 5: 14,763,793 (GRCm39) S4089P unknown Het
Piezo1 T C 8: 123,208,788 (GRCm39) Y2525C probably damaging Het
Pik3c2a A G 7: 116,016,908 (GRCm39) V283A possibly damaging Het
Pramel12 G A 4: 143,144,188 (GRCm39) R178Q probably benign Het
Rabgap1l A T 1: 160,561,250 (GRCm39) V161E probably benign Het
Rasa2 A G 9: 96,426,401 (GRCm39) I815T probably benign Het
Rev1 A T 1: 38,127,653 (GRCm39) D202E probably benign Het
Septin14 C T 5: 129,770,118 (GRCm39) A193T probably damaging Het
Sh3tc1 T C 5: 35,876,370 (GRCm39) S112G probably benign Het
Siah3 T A 14: 75,762,994 (GRCm39) Y82N probably benign Het
Slc2a7 T C 4: 150,250,853 (GRCm39) S425P probably damaging Het
Slc9a2 C T 1: 40,765,548 (GRCm39) L313F probably damaging Het
Smdt1 T C 15: 82,230,433 (GRCm39) V50A probably benign Het
Spata31e2 T G 1: 26,724,961 (GRCm39) K73T possibly damaging Het
Supt3 G A 17: 45,347,607 (GRCm39) A197T probably benign Het
Tex10 A G 4: 48,436,492 (GRCm39) I742T possibly damaging Het
Tex44 T A 1: 86,355,640 (GRCm39) H516Q possibly damaging Het
Tfdp1 T G 8: 13,420,917 (GRCm39) D171E probably damaging Het
Trim31 A C 17: 37,209,568 (GRCm39) D108A probably damaging Het
Ubr1 T C 2: 120,791,579 (GRCm39) N135S probably benign Het
Uso1 G A 5: 92,328,422 (GRCm39) V340I possibly damaging Het
Utp6 A C 11: 79,839,749 (GRCm39) V313G probably damaging Het
Vmn2r107 T C 17: 20,595,109 (GRCm39) V554A possibly damaging Het
Xdh C A 17: 74,221,014 (GRCm39) E572* probably null Het
Zbtb7c T C 18: 76,270,061 (GRCm39) S50P probably damaging Het
Zfp672 A G 11: 58,220,395 (GRCm39) probably benign Het
Zzef1 A G 11: 72,791,635 (GRCm39) probably null Het
Other mutations in Pi4kb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00424:Pi4kb APN 3 94,911,574 (GRCm39) missense probably damaging 1.00
IGL01559:Pi4kb APN 3 94,891,440 (GRCm39) missense probably benign 0.00
IGL03003:Pi4kb APN 3 94,892,123 (GRCm39) missense probably benign 0.00
IGL03087:Pi4kb APN 3 94,892,075 (GRCm39) missense probably benign
R0014:Pi4kb UTSW 3 94,906,208 (GRCm39) missense probably damaging 1.00
R0196:Pi4kb UTSW 3 94,906,261 (GRCm39) missense probably damaging 1.00
R0387:Pi4kb UTSW 3 94,892,051 (GRCm39) missense probably benign 0.42
R0394:Pi4kb UTSW 3 94,904,116 (GRCm39) intron probably benign
R0394:Pi4kb UTSW 3 94,904,115 (GRCm39) intron probably benign
R3700:Pi4kb UTSW 3 94,901,599 (GRCm39) missense probably benign 0.09
R4449:Pi4kb UTSW 3 94,892,046 (GRCm39) missense probably benign 0.41
R4502:Pi4kb UTSW 3 94,903,918 (GRCm39) missense probably benign 0.02
R4717:Pi4kb UTSW 3 94,906,162 (GRCm39) missense probably damaging 1.00
R4737:Pi4kb UTSW 3 94,911,649 (GRCm39) missense probably damaging 1.00
R4763:Pi4kb UTSW 3 94,911,720 (GRCm39) intron probably benign
R5322:Pi4kb UTSW 3 94,901,560 (GRCm39) missense probably benign 0.04
R5427:Pi4kb UTSW 3 94,901,518 (GRCm39) missense probably benign 0.09
R5622:Pi4kb UTSW 3 94,906,172 (GRCm39) missense possibly damaging 0.56
R5625:Pi4kb UTSW 3 94,891,988 (GRCm39) missense probably benign 0.15
R5755:Pi4kb UTSW 3 94,901,608 (GRCm39) splice site probably null
R5926:Pi4kb UTSW 3 94,906,307 (GRCm39) missense probably damaging 1.00
R6904:Pi4kb UTSW 3 94,900,461 (GRCm39) missense probably damaging 1.00
R6984:Pi4kb UTSW 3 94,904,245 (GRCm39) missense probably damaging 1.00
R7221:Pi4kb UTSW 3 94,901,500 (GRCm39) missense probably damaging 1.00
R7312:Pi4kb UTSW 3 94,891,888 (GRCm39) missense probably benign 0.12
R7511:Pi4kb UTSW 3 94,896,623 (GRCm39) missense probably benign 0.00
R7571:Pi4kb UTSW 3 94,906,425 (GRCm39) critical splice donor site probably null
R7885:Pi4kb UTSW 3 94,906,387 (GRCm39) missense probably damaging 1.00
R8327:Pi4kb UTSW 3 94,906,192 (GRCm39) missense probably benign 0.02
R8331:Pi4kb UTSW 3 94,903,995 (GRCm39) missense probably null 0.99
R8829:Pi4kb UTSW 3 94,900,344 (GRCm39) missense probably damaging 0.99
R8832:Pi4kb UTSW 3 94,900,344 (GRCm39) missense probably damaging 0.99
R9047:Pi4kb UTSW 3 94,900,428 (GRCm39) missense probably damaging 1.00
R9255:Pi4kb UTSW 3 94,906,219 (GRCm39) missense probably damaging 1.00
R9269:Pi4kb UTSW 3 94,891,797 (GRCm39) missense probably damaging 1.00
R9326:Pi4kb UTSW 3 94,900,506 (GRCm39) critical splice donor site probably null
Z1088:Pi4kb UTSW 3 94,891,820 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGGACTGCTGATGAAGGTTGGAAC -3'
(R):5'- CTCCTGCTGTAAGAGGAGCTTGAAC -3'

Sequencing Primer
(F):5'- AGGTAGTGGCAAATGCTCTCTC -3'
(R):5'- CTGTAAGAGGAGCTTGAACCTATTC -3'
Posted On 2014-03-28