Incidental Mutation 'R8121:Pip5k1b'
ID 631533
Institutional Source Beutler Lab
Gene Symbol Pip5k1b
Ensembl Gene ENSMUSG00000024867
Gene Name phosphatidylinositol-4-phosphate 5-kinase, type 1 beta
Synonyms Pipk5b
MMRRC Submission 067550-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.104) question?
Stock # R8121 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 24272158-24533236 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 24337355 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 311 (I311N)
Ref Sequence ENSEMBL: ENSMUSP00000025800 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025800] [ENSMUST00000112673]
AlphaFold P70181
Predicted Effect probably damaging
Transcript: ENSMUST00000025800
AA Change: I311N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000025800
Gene: ENSMUSG00000024867
AA Change: I311N

DomainStartEndE-ValueType
PIPKc 53 396 1.1e-159 SMART
low complexity region 472 484 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000112673
AA Change: I311N

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000108292
Gene: ENSMUSG00000024867
AA Change: I311N

DomainStartEndE-ValueType
PIPKc 53 396 1.1e-159 SMART
low complexity region 420 432 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.1%
  • 20x: 97.3%
Validation Efficiency 100% (60/60)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit enhanced passive cutaneous and systemic anaphylaxis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003E16Rik A T 6: 83,138,893 (GRCm39) M273L probably benign Het
Abi3bp A T 16: 56,452,241 (GRCm39) K912N unknown Het
Arfgap2 T C 2: 91,096,028 (GRCm39) F62L probably benign Het
Arhgap45 A G 10: 79,853,909 (GRCm39) E141G probably damaging Het
Atraid G A 5: 31,211,642 (GRCm39) probably null Het
Cd101 G A 3: 100,927,898 (GRCm39) A65V probably damaging Het
Cd177 A G 7: 24,459,067 (GRCm39) V114A probably benign Het
Cdh6 T C 15: 13,044,757 (GRCm39) N455S probably damaging Het
Cdk14 A T 5: 5,277,195 (GRCm39) S145T possibly damaging Het
Ces1h T C 8: 94,080,104 (GRCm39) E470G unknown Het
Cfap58 A G 19: 48,017,543 (GRCm39) Y801C probably benign Het
Clec2d C T 6: 129,161,847 (GRCm39) T160M probably benign Het
Cryz A G 3: 154,327,382 (GRCm39) I269V probably benign Het
Ctdp1 A T 18: 80,499,223 (GRCm39) Y240N probably damaging Het
Dapk1 A G 13: 60,909,212 (GRCm39) Y1275C probably damaging Het
Dnah9 A G 11: 65,908,201 (GRCm39) I2385T probably benign Het
Dpp8 A G 9: 64,985,362 (GRCm39) M807V probably benign Het
Entpd3 T A 9: 120,384,720 (GRCm39) I99N probably damaging Het
Fbxw11 A G 11: 32,670,646 (GRCm39) E204G possibly damaging Het
Fscn1 T C 5: 142,946,616 (GRCm39) M138T probably damaging Het
Gm5114 T A 7: 39,057,552 (GRCm39) Q689L probably benign Het
Iqgap2 T C 13: 95,861,076 (GRCm39) N350S probably benign Het
Kcnj10 T A 1: 172,196,809 (GRCm39) C108S probably damaging Het
Krtap10-4 G A 10: 77,662,840 (GRCm39) R13C unknown Het
Lmo7 T C 14: 102,163,736 (GRCm39) I1527T unknown Het
Lrrc17 A G 5: 21,775,329 (GRCm39) K297R probably benign Het
Ltb4r1 G A 14: 56,005,579 (GRCm39) R294H probably damaging Het
Macc1 A G 12: 119,410,324 (GRCm39) D364G probably damaging Het
Mavs A C 2: 131,087,395 (GRCm39) T298P probably damaging Het
Myh8 G T 11: 67,180,647 (GRCm39) A628S probably benign Het
Neurl4 A T 11: 69,799,056 (GRCm39) probably null Het
Nicn1 C A 9: 108,172,304 (GRCm39) T213K probably damaging Het
Nptx1 G A 11: 119,433,492 (GRCm39) T369I probably damaging Het
Nt5c1a T C 4: 123,102,235 (GRCm39) S54P probably damaging Het
Nup210l G A 3: 90,022,428 (GRCm39) R132Q probably damaging Het
Or2b11 A T 11: 59,461,870 (GRCm39) I232N probably damaging Het
Or4k41 A G 2: 111,279,505 (GRCm39) T7A probably benign Het
Or4p18 A T 2: 88,233,040 (GRCm39) F79L probably benign Het
Or7g22 G A 9: 19,048,988 (GRCm39) G233E probably damaging Het
Pkdrej C T 15: 85,699,655 (GRCm39) V2094I probably benign Het
Pla2g2f A G 4: 138,479,621 (GRCm39) Y179H probably damaging Het
Plekha3 A T 2: 76,516,992 (GRCm39) T115S probably damaging Het
Ppp4c A G 7: 126,386,496 (GRCm39) L167P probably damaging Het
Pramel28 T A 4: 143,691,611 (GRCm39) S371C probably benign Het
Rarg A G 15: 102,148,393 (GRCm39) I238T probably damaging Het
Scn7a A T 2: 66,531,203 (GRCm39) I558N probably damaging Het
Sema3a C A 5: 13,649,215 (GRCm39) H655N probably damaging Het
Serpinb6c T C 13: 34,064,201 (GRCm39) M285V probably benign Het
Setx T A 2: 29,035,046 (GRCm39) S510R possibly damaging Het
Sgcz A G 8: 37,990,457 (GRCm39) S299P probably damaging Het
Slc12a2 T A 18: 58,032,403 (GRCm39) F368I probably benign Het
Slc7a9 C A 7: 35,153,542 (GRCm39) T181K probably damaging Het
Slco2b1 G A 7: 99,334,760 (GRCm39) T237M probably benign Het
Spg11 A G 2: 121,900,348 (GRCm39) probably null Het
Tbc1d22b G T 17: 29,791,945 (GRCm39) G225V probably damaging Het
Tbcd A G 11: 121,487,969 (GRCm39) probably null Het
Unc93a T C 17: 13,328,560 (GRCm39) Y431C probably benign Het
Vmn1r65 C T 7: 6,011,464 (GRCm39) V257I possibly damaging Het
Vmn2r124 A T 17: 18,282,433 (GRCm39) T154S probably benign Het
Wnk2 A T 13: 49,214,415 (GRCm39) L1487* probably null Het
Zfp853 G A 5: 143,274,018 (GRCm39) A549V probably damaging Het
Zfp936 C T 7: 42,839,547 (GRCm39) T338I possibly damaging Het
Other mutations in Pip5k1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02642:Pip5k1b APN 19 24,323,731 (GRCm39) missense probably benign 0.00
R0109:Pip5k1b UTSW 19 24,356,411 (GRCm39) missense probably benign
R0109:Pip5k1b UTSW 19 24,356,411 (GRCm39) missense probably benign
R0726:Pip5k1b UTSW 19 24,356,256 (GRCm39) missense probably damaging 0.99
R1737:Pip5k1b UTSW 19 24,374,404 (GRCm39) missense probably damaging 1.00
R2211:Pip5k1b UTSW 19 24,356,214 (GRCm39) missense probably damaging 1.00
R2280:Pip5k1b UTSW 19 24,356,311 (GRCm39) missense probably damaging 1.00
R2281:Pip5k1b UTSW 19 24,356,311 (GRCm39) missense probably damaging 1.00
R4703:Pip5k1b UTSW 19 24,332,517 (GRCm39) missense probably damaging 1.00
R4953:Pip5k1b UTSW 19 24,367,799 (GRCm39) missense probably damaging 1.00
R5341:Pip5k1b UTSW 19 24,281,440 (GRCm39) missense probably benign 0.00
R5493:Pip5k1b UTSW 19 24,416,439 (GRCm39) missense probably benign
R5514:Pip5k1b UTSW 19 24,327,505 (GRCm39) missense probably damaging 0.99
R5908:Pip5k1b UTSW 19 24,374,501 (GRCm39) missense possibly damaging 0.95
R6083:Pip5k1b UTSW 19 24,281,399 (GRCm39) nonsense probably null
R6219:Pip5k1b UTSW 19 24,359,187 (GRCm39) missense probably damaging 1.00
R7009:Pip5k1b UTSW 19 24,337,299 (GRCm39) splice site probably null
R7097:Pip5k1b UTSW 19 24,335,424 (GRCm39) missense probably damaging 1.00
R7167:Pip5k1b UTSW 19 24,374,433 (GRCm39) missense probably benign
R7682:Pip5k1b UTSW 19 24,337,343 (GRCm39) missense probably damaging 1.00
R7892:Pip5k1b UTSW 19 24,337,457 (GRCm39) missense probably benign 0.01
R8314:Pip5k1b UTSW 19 24,332,563 (GRCm39) missense probably benign 0.29
R8865:Pip5k1b UTSW 19 24,374,422 (GRCm39) missense probably damaging 1.00
R9020:Pip5k1b UTSW 19 24,327,585 (GRCm39) missense probably benign 0.00
R9283:Pip5k1b UTSW 19 24,337,376 (GRCm39) missense probably damaging 1.00
R9375:Pip5k1b UTSW 19 24,416,442 (GRCm39) missense probably benign 0.02
R9380:Pip5k1b UTSW 19 24,356,417 (GRCm39) missense probably damaging 1.00
R9418:Pip5k1b UTSW 19 24,327,581 (GRCm39) missense probably benign 0.24
R9473:Pip5k1b UTSW 19 24,335,590 (GRCm39) missense probably damaging 1.00
R9549:Pip5k1b UTSW 19 24,356,413 (GRCm39) missense probably damaging 1.00
R9682:Pip5k1b UTSW 19 24,356,318 (GRCm39) missense probably damaging 1.00
R9700:Pip5k1b UTSW 19 24,281,460 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TGAGAAATTACCACACCTCTAGTC -3'
(R):5'- TCCTTCTGCAGGTTCTGGAAAG -3'

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