Incidental Mutation 'R6904:Pi4kb'
ID 538672
Institutional Source Beutler Lab
Gene Symbol Pi4kb
Ensembl Gene ENSMUSG00000038861
Gene Name phosphatidylinositol 4-kinase beta
Synonyms Pik4cb, ESTM41
MMRRC Submission 045033-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.966) question?
Stock # R6904 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 94882042-94914154 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 94900461 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 392 (R392L)
Ref Sequence ENSEMBL: ENSMUSP00000121965 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072287] [ENSMUST00000107251] [ENSMUST00000125476] [ENSMUST00000138209] [ENSMUST00000167008]
AlphaFold Q8BKC8
Predicted Effect probably damaging
Transcript: ENSMUST00000072287
AA Change: R365L

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000072134
Gene: ENSMUSG00000038861
AA Change: R365L

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 damaging
Transcript: ENSMUST00000107251
AA Change: R380L

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000102872
Gene: ENSMUSG00000038861
AA Change: R380L

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 damaging
Transcript: ENSMUST00000125476
AA Change: R392L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000121965
Gene: ENSMUSG00000038861
AA Change: R392L

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 damaging
Transcript: ENSMUST00000138209
AA Change: R48L

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000167008
AA Change: R48L

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000132150
Gene: ENSMUSG00000038861
AA Change: R48L

DomainStartEndE-ValueType
PI3Kc 228 482 6.47e-105 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610021A01Rik T A 7: 41,275,516 (GRCm39) Y406* probably null Het
Acadvl T C 11: 69,905,159 (GRCm39) D109G probably benign Het
Adam24 G A 8: 41,134,542 (GRCm39) G670E probably damaging Het
Angpt1 T C 15: 42,323,136 (GRCm39) M378V probably benign Het
Ankrd33 G A 15: 101,014,993 (GRCm39) probably null Het
Apol7b G A 15: 77,307,625 (GRCm39) T290I probably benign Het
Atg4a-ps A G 3: 103,553,180 (GRCm39) W54R probably damaging Het
B3glct A G 5: 149,663,069 (GRCm39) probably null Het
Bmp7 A G 2: 172,714,706 (GRCm39) S368P probably damaging Het
Boc A G 16: 44,312,154 (GRCm39) V636A probably damaging Het
Cacna1i G A 15: 80,259,002 (GRCm39) R1237H probably damaging Het
Cdcp1 T C 9: 123,002,980 (GRCm39) D697G probably benign Het
Cep85l T C 10: 53,225,194 (GRCm39) T132A probably benign Het
Ces1b T A 8: 93,787,038 (GRCm39) Y447F probably damaging Het
Cfhr4 T G 1: 139,659,391 (GRCm39) N642H possibly damaging Het
Cntn4 A T 6: 106,674,544 (GRCm39) T1015S probably benign Het
Eea1 T G 10: 95,838,741 (GRCm39) probably null Het
Fcgbpl1 C T 7: 27,836,638 (GRCm39) R186C probably damaging Het
Hipk1 A T 3: 103,684,828 (GRCm39) N262K possibly damaging Het
Jmjd8 G A 17: 26,048,026 (GRCm39) R41H possibly damaging Het
Klhl3 T A 13: 58,178,259 (GRCm39) T344S probably damaging Het
Krt39 T C 11: 99,410,647 (GRCm39) D175G probably damaging Het
Map4k1 A G 7: 28,686,227 (GRCm39) Y81C probably damaging Het
Mpdu1 T A 11: 69,549,411 (GRCm39) T95S probably benign Het
Myl12b A T 17: 71,284,135 (GRCm39) I31N probably damaging Het
Ndufaf5 T A 2: 140,030,700 (GRCm39) Y195* probably null Het
Or4c119 G A 2: 88,987,157 (GRCm39) R121C possibly damaging Het
Or4d5 T C 9: 40,012,652 (GRCm39) I45V probably benign Het
Or51v15-ps1 A T 7: 103,278,790 (GRCm39) F126I probably benign Het
Or52z12 T A 7: 103,233,727 (GRCm39) I166N possibly damaging Het
Or5w17 A G 2: 87,584,223 (GRCm39) V38A probably benign Het
Oxgr1 T A 14: 120,259,431 (GRCm39) I259F possibly damaging Het
Pcdhb9 T A 18: 37,534,970 (GRCm39) D321E probably benign Het
Pramel18 G A 4: 101,767,291 (GRCm39) C180Y possibly damaging Het
Prss41 T C 17: 24,056,622 (GRCm39) K151R probably benign Het
Rev3l T A 10: 39,697,477 (GRCm39) V658D probably benign Het
Snx4 A G 16: 33,115,108 (GRCm39) I430V probably damaging Het
Tanc2 C T 11: 105,726,056 (GRCm39) H407Y possibly damaging Het
Tcf25 G A 8: 124,127,437 (GRCm39) probably null Het
Tsc22d1 A T 14: 76,743,923 (GRCm39) K24* probably null Het
Vmn2r30 A G 7: 7,315,547 (GRCm39) F762S probably damaging Het
Xrcc6 A G 15: 81,913,323 (GRCm39) T319A probably benign Het
Zbtb1 C T 12: 76,432,985 (GRCm39) R324* probably null Het
Zc3h7a A G 16: 10,963,535 (GRCm39) Y729H probably damaging Het
Zfp329 C A 7: 12,540,457 (GRCm39) probably benign Het
Zfp456 A T 13: 67,514,384 (GRCm39) S441T 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
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
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'- TGGTTTAATCTTAACCCTCTGTAGC -3'
(R):5'- GGGTTCTCAGCATCACAAGAGC -3'

Sequencing Primer
(F):5'- AACCCTCTGTAGCCTGTCCG -3'
(R):5'- GAGCAATGAGTCACTCTTAGCACATG -3'
Posted On 2018-11-06