Incidental Mutation 'R5427:Pi4kb'
ID 426940
Institutional Source Beutler Lab
Gene Symbol Pi4kb
Ensembl Gene ENSMUSG00000038861
Gene Name phosphatidylinositol 4-kinase beta
Synonyms Pik4cb, ESTM41
MMRRC Submission 042993-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.966) question?
Stock # R5427 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 94882042-94914154 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 94901518 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 395 (D395G)
Ref Sequence ENSEMBL: ENSMUSP00000072134 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072287] [ENSMUST00000107251] [ENSMUST00000125476] [ENSMUST00000133297] [ENSMUST00000138209] [ENSMUST00000167008]
AlphaFold Q8BKC8
Predicted Effect probably benign
Transcript: ENSMUST00000072287
AA Change: D395G

PolyPhen 2 Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000072134
Gene: ENSMUSG00000038861
AA Change: D395G

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: D410G

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000102872
Gene: ENSMUSG00000038861
AA Change: D410G

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: D422G

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000121965
Gene: ENSMUSG00000038861
AA Change: D422G

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: D78G

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
Predicted Effect probably benign
Transcript: ENSMUST00000167008
AA Change: D78G

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000132150
Gene: ENSMUSG00000038861
AA Change: D78G

DomainStartEndE-ValueType
PI3Kc 228 482 6.47e-105 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143287
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141787
Meta Mutation Damage Score 0.0727 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 97% (58/60)
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aaas A G 15: 102,248,385 (GRCm39) V277A possibly damaging Het
Adcy7 G A 8: 89,052,829 (GRCm39) probably null Het
Adgrg5 A T 8: 95,661,730 (GRCm39) D157V probably benign Het
Akap13 A G 7: 75,378,617 (GRCm39) N2090S possibly damaging Het
Alpi T C 1: 87,029,076 (GRCm39) N33D probably benign Het
Anapc15 C T 7: 101,547,810 (GRCm39) P68L probably damaging Het
Ankrd34a G A 3: 96,504,837 (GRCm39) G14R probably damaging Het
Anp32a A G 9: 62,284,598 (GRCm39) probably benign Het
Atg4b G C 1: 93,702,928 (GRCm39) K86N probably damaging Het
Bbx T C 16: 50,100,860 (GRCm39) T12A probably benign Het
Catsperg2 T C 7: 29,414,275 (GRCm39) T377A possibly damaging Het
Ccdc158 T C 5: 92,796,821 (GRCm39) Q505R probably damaging Het
Cep135 T A 5: 76,786,049 (GRCm39) S1051T probably benign Het
Cryab A G 9: 50,667,593 (GRCm39) D109G probably damaging Het
Crym A C 7: 119,798,445 (GRCm39) probably benign Het
Csf2rb2 T A 15: 78,173,111 (GRCm39) S250C probably damaging Het
Diaph1 A T 18: 38,023,648 (GRCm39) V730E unknown Het
Eci3 G T 13: 35,143,931 (GRCm39) L65M possibly damaging Het
Erg28 T C 12: 85,866,341 (GRCm39) N46D probably damaging Het
Fam89b A G 19: 5,778,819 (GRCm39) S127P probably benign Het
Fign A G 2: 63,809,342 (GRCm39) Y643H probably damaging Het
Galk2 T C 2: 125,788,741 (GRCm39) V265A probably benign Het
Gclm T C 3: 122,059,976 (GRCm39) V252A probably damaging Het
Git2 A G 5: 114,868,389 (GRCm39) S584P possibly damaging Het
Iqcf3 T C 9: 106,421,059 (GRCm39) probably null Het
Kcnk3 A G 5: 30,779,639 (GRCm39) T230A possibly damaging Het
Mettl25b T C 3: 87,831,639 (GRCm39) probably benign Het
Myh10 T C 11: 68,693,757 (GRCm39) L1486P probably damaging Het
Myom2 C A 8: 15,163,764 (GRCm39) A1006E probably benign Het
Myt1l G A 12: 29,882,331 (GRCm39) G509R unknown Het
Nampt A T 12: 32,884,914 (GRCm39) H111L probably benign Het
Nid1 A G 13: 13,658,268 (GRCm39) Y671C probably damaging Het
Npy5r G A 8: 67,133,672 (GRCm39) R374C probably damaging Het
Or10ag54 A T 2: 87,099,858 (GRCm39) K244N probably benign Het
Or5b123 A T 19: 13,596,714 (GRCm39) S20C probably benign Het
Palld C T 8: 62,003,106 (GRCm39) C720Y probably benign Het
Pcsk6 C T 7: 65,683,647 (GRCm39) T606M probably benign Het
Pfas T C 11: 68,891,979 (GRCm39) I176M possibly damaging Het
Plod3 A T 5: 137,020,642 (GRCm39) Y547F probably damaging Het
Plscr1l1 G A 9: 92,234,649 (GRCm39) C128Y probably benign Het
Pnpo T C 11: 96,834,633 (GRCm39) Y21C probably benign Het
Rgs1 A T 1: 144,122,018 (GRCm39) C118* probably null Het
Slc22a27 A G 19: 7,856,753 (GRCm39) probably null Het
Sntb1 C G 15: 55,506,191 (GRCm39) G461R probably damaging Het
Sppl2c G A 11: 104,078,693 (GRCm39) V498I probably benign Het
Stim2 A T 5: 54,268,281 (GRCm39) I448F possibly damaging Het
Sulf1 A T 1: 12,867,136 (GRCm39) T107S possibly damaging Het
Tenm3 A G 8: 48,689,599 (GRCm39) V1996A probably damaging Het
Timm23 G A 14: 31,911,103 (GRCm39) T171I possibly damaging Het
Tssk2 A G 16: 17,716,729 (GRCm39) D44G probably damaging Het
Vmn2r28 A T 7: 5,489,376 (GRCm39) Y488N probably damaging Het
Zbed6 A G 1: 133,585,333 (GRCm39) V668A possibly damaging Het
Zbtb48 A G 4: 152,105,108 (GRCm39) F518S probably damaging Het
Zfp709 A G 8: 72,642,976 (GRCm39) E135G probably benign Het
Zfp788 G A 7: 41,299,076 (GRCm39) V571I possibly damaging Het
Zfp963 A G 8: 70,196,106 (GRCm39) S116P probably benign 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
R1485:Pi4kb UTSW 3 94,901,698 (GRCm39) missense probably damaging 0.99
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
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'- AAGCCCTGATGATAAGCTCAG -3'
(R):5'- ACTTGCAGCTCGCCTATATC -3'

Sequencing Primer
(F):5'- TGATAAGCTCAGAGGCATGTACACC -3'
(R):5'- GCCTATATCATCCACTGACCAGG -3'
Posted On 2016-09-01