Incidental Mutation 'R5514:Itpkb'
ID 440209
Institutional Source Beutler Lab
Gene Symbol Itpkb
Ensembl Gene ENSMUSG00000038855
Gene Name inositol 1,4,5-trisphosphate 3-kinase B
Synonyms 1110033J02Rik, E130307H12Rik
MMRRC Submission 043074-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.816) question?
Stock # R5514 (G1)
Quality Score 203
Status Not validated
Chromosome 1
Chromosomal Location 180158050-180252367 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 180241474 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 715 (V715M)
Ref Sequence ENSEMBL: ENSMUSP00000069851 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070181]
AlphaFold B2RXC2
PDB Structure Crystal Structure of the Catalytic and CaM-Binding domains of Inositol 1,4,5-Trisphosphate 3-Kinase B [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000070181
AA Change: V715M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000069851
Gene: ENSMUSG00000038855
AA Change: V715M

DomainStartEndE-ValueType
low complexity region 68 106 N/A INTRINSIC
low complexity region 157 168 N/A INTRINSIC
low complexity region 179 192 N/A INTRINSIC
low complexity region 302 314 N/A INTRINSIC
low complexity region 595 618 N/A INTRINSIC
Pfam:IPK 722 933 3.5e-45 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this protein regulates inositol phosphate metabolism by phosphorylation of second messenger inositol 1,4,5-trisphosphate to Ins(1,3,4,5)P4. The activity of this encoded protein is responsible for regulating the levels of a large number of inositol polyphosphates that are important in cellular signaling. Both calcium/calmodulin and protein phosphorylation mechanisms control its activity. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in a block of thymocyte development at the double positive stage. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam17 T C 12: 21,390,520 (GRCm39) S382G probably damaging Het
Agr2 G A 12: 36,046,090 (GRCm39) V74I probably benign Het
Aldh3a1 T C 11: 61,108,867 (GRCm39) S423P probably damaging Het
Ampd1 C T 3: 102,986,488 (GRCm39) H56Y possibly damaging Het
Arhgef2 C A 3: 88,550,304 (GRCm39) P670T probably benign Het
Blk T G 14: 63,615,930 (GRCm39) D333A probably damaging Het
Bmi1 T C 2: 18,686,714 (GRCm39) I31T probably damaging Het
Cacna1d G A 14: 30,072,790 (GRCm39) Q62* probably null Het
Ccdc88c A G 12: 100,879,698 (GRCm39) S1801P probably damaging Het
Cdkal1 C T 13: 29,961,270 (GRCm39) A100T probably damaging Het
Cfap251 G T 5: 123,425,829 (GRCm39) probably null Het
Chst4 G T 8: 110,756,606 (GRCm39) S419Y probably damaging Het
Cntn4 T C 6: 106,649,844 (GRCm39) I680T probably damaging Het
Ddx55 T C 5: 124,694,875 (GRCm39) V101A probably damaging Het
Ddx60 A T 8: 62,411,091 (GRCm39) E451V probably damaging Het
Dffa T A 4: 149,190,772 (GRCm39) probably null Het
Dgkd A G 1: 87,861,832 (GRCm39) R796G probably damaging Het
Dzank1 T A 2: 144,323,605 (GRCm39) M614L probably benign Het
Elf2 G T 3: 51,215,555 (GRCm39) Q52K probably damaging Het
Fcamr T A 1: 130,741,793 (GRCm39) L522Q probably damaging Het
Fscn2 T C 11: 120,258,858 (GRCm39) Y468H probably damaging Het
Gm12689 T C 4: 99,184,402 (GRCm39) I85T unknown Het
Gm4787 A G 12: 81,425,102 (GRCm39) V352A possibly damaging Het
Gtsf1 T C 15: 103,336,802 (GRCm39) Q13R probably benign Het
Jmjd1c T A 10: 67,053,928 (GRCm39) S263T probably damaging Het
Krba1 T G 6: 48,390,429 (GRCm39) L736R probably damaging Het
Lrrc8d C G 5: 105,960,650 (GRCm39) F353L probably damaging Het
Lrrc8d G A 5: 105,960,651 (GRCm39) E354K probably benign Het
Mtor T A 4: 148,630,901 (GRCm39) V2286E probably damaging Het
Mybbp1a T A 11: 72,341,462 (GRCm39) V1100E possibly damaging Het
Myo5a G A 9: 75,061,048 (GRCm39) G518D probably damaging Het
Nalcn A T 14: 123,521,123 (GRCm39) I1594N probably benign Het
Nav1 C G 1: 135,398,299 (GRCm39) G761A probably benign Het
Ncoa2 A T 1: 13,251,445 (GRCm39) L276H probably damaging Het
Ndufaf7 T C 17: 79,245,051 (GRCm39) Y57H probably damaging Het
Nfkb2 A G 19: 46,299,847 (GRCm39) Y807C probably damaging Het
Nid2 A T 14: 19,852,535 (GRCm39) Q1081L probably damaging Het
Nkain2 T A 10: 31,827,189 (GRCm39) I134F probably damaging Het
Nmu A C 5: 76,497,979 (GRCm39) S69A probably damaging Het
Or4c15b A T 2: 89,112,817 (GRCm39) I220N probably damaging Het
Or5t7 T C 2: 86,507,225 (GRCm39) I151V probably benign Het
Pard3 A G 8: 128,153,086 (GRCm39) R886G probably damaging Het
Pde6b G T 5: 108,571,317 (GRCm39) Q423H probably benign Het
Pip5k1b A T 19: 24,327,505 (GRCm39) D450E probably damaging Het
Plcg1 T C 2: 160,595,275 (GRCm39) probably null Het
Pnpt1 T C 11: 29,103,246 (GRCm39) S504P possibly damaging Het
Pomt2 A T 12: 87,175,797 (GRCm39) D312E probably damaging Het
Ppp1r1b T C 11: 98,246,228 (GRCm39) L70P probably damaging Het
Prr5 C A 15: 84,587,096 (GRCm39) P282Q probably benign Het
Reln A T 5: 22,176,883 (GRCm39) W1928R possibly damaging Het
Sacm1l A T 9: 123,415,419 (GRCm39) R465* probably null Het
Sema7a A G 9: 57,863,046 (GRCm39) Y239C probably damaging Het
Slc35e2 C T 4: 155,694,483 (GRCm39) P10L probably benign Het
Svep1 T C 4: 58,044,054 (GRCm39) T3531A possibly damaging Het
Tjp1 A T 7: 65,004,609 (GRCm39) W19R probably damaging Het
Tmc2 T A 2: 130,083,564 (GRCm39) M507K possibly damaging Het
Unc13a A G 8: 72,095,795 (GRCm39) Y1241H probably damaging Het
Upp1 C T 11: 9,081,771 (GRCm39) P103S probably damaging Het
Vldlr A G 19: 27,221,624 (GRCm39) E663G probably damaging Het
Vmn2r68 G A 7: 84,886,767 (GRCm39) T49I possibly damaging Het
Xirp2 A T 2: 67,335,465 (GRCm39) M95L probably benign Het
Other mutations in Itpkb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00899:Itpkb APN 1 180,160,558 (GRCm39) missense probably benign
IGL01733:Itpkb APN 1 180,160,734 (GRCm39) missense possibly damaging 0.50
IGL01812:Itpkb APN 1 180,247,851 (GRCm39) missense probably damaging 1.00
IGL01965:Itpkb APN 1 180,159,970 (GRCm39) missense probably damaging 1.00
IGL02447:Itpkb APN 1 180,248,919 (GRCm39) splice site probably benign
IGL03143:Itpkb APN 1 180,160,933 (GRCm39) missense probably benign
IGL03228:Itpkb APN 1 180,241,564 (GRCm39) missense probably damaging 1.00
lahar UTSW 1 180,154,790 (GRCm39) unclassified probably benign
magma UTSW 1 180,241,540 (GRCm39) missense probably damaging 1.00
Purpura UTSW 1 180,161,661 (GRCm39) missense probably damaging 1.00
Pyroclastic UTSW 1 180,161,818 (GRCm39) intron probably benign
volcano UTSW 1 180,248,880 (GRCm39) missense probably damaging 1.00
IGL02991:Itpkb UTSW 1 180,155,279 (GRCm39) unclassified probably benign
R0071:Itpkb UTSW 1 180,160,330 (GRCm39) missense probably damaging 1.00
R0471:Itpkb UTSW 1 180,245,820 (GRCm39) missense probably damaging 0.98
R0616:Itpkb UTSW 1 180,249,301 (GRCm39) missense probably damaging 1.00
R1567:Itpkb UTSW 1 180,249,423 (GRCm39) missense probably benign 0.00
R2060:Itpkb UTSW 1 180,249,423 (GRCm39) missense probably benign 0.00
R2474:Itpkb UTSW 1 180,161,716 (GRCm39) missense probably damaging 1.00
R3022:Itpkb UTSW 1 180,245,888 (GRCm39) missense probably damaging 0.96
R3792:Itpkb UTSW 1 180,160,738 (GRCm39) missense possibly damaging 0.81
R3831:Itpkb UTSW 1 180,161,260 (GRCm39) missense probably benign 0.00
R3833:Itpkb UTSW 1 180,161,260 (GRCm39) missense probably benign 0.00
R3967:Itpkb UTSW 1 180,155,363 (GRCm39) unclassified probably benign
R3968:Itpkb UTSW 1 180,155,363 (GRCm39) unclassified probably benign
R4735:Itpkb UTSW 1 180,245,780 (GRCm39) missense probably damaging 1.00
R4774:Itpkb UTSW 1 180,245,759 (GRCm39) missense probably damaging 1.00
R4807:Itpkb UTSW 1 180,162,440 (GRCm39) intron probably benign
R4895:Itpkb UTSW 1 180,241,460 (GRCm39) missense probably damaging 1.00
R5593:Itpkb UTSW 1 180,161,661 (GRCm39) missense probably damaging 1.00
R5633:Itpkb UTSW 1 180,154,790 (GRCm39) unclassified probably benign
R5772:Itpkb UTSW 1 180,161,818 (GRCm39) intron probably benign
R5898:Itpkb UTSW 1 180,248,880 (GRCm39) missense probably damaging 1.00
R5903:Itpkb UTSW 1 180,241,540 (GRCm39) missense probably damaging 1.00
R7060:Itpkb UTSW 1 180,160,695 (GRCm39) missense probably damaging 1.00
R7689:Itpkb UTSW 1 180,241,544 (GRCm39) missense probably damaging 1.00
R7816:Itpkb UTSW 1 180,241,454 (GRCm39) missense probably damaging 1.00
R8001:Itpkb UTSW 1 180,160,059 (GRCm39) missense probably damaging 1.00
R8155:Itpkb UTSW 1 180,159,913 (GRCm39) missense possibly damaging 0.86
R8354:Itpkb UTSW 1 180,160,908 (GRCm39) missense possibly damaging 0.90
R8690:Itpkb UTSW 1 180,249,346 (GRCm39) missense probably benign 0.05
R8870:Itpkb UTSW 1 180,159,744 (GRCm39) start gained probably benign
R9168:Itpkb UTSW 1 180,160,028 (GRCm39) missense probably benign 0.01
R9203:Itpkb UTSW 1 180,161,004 (GRCm39) missense probably benign
R9531:Itpkb UTSW 1 180,161,374 (GRCm39) missense probably benign 0.19
R9651:Itpkb UTSW 1 180,160,056 (GRCm39) nonsense probably null
R9652:Itpkb UTSW 1 180,160,056 (GRCm39) nonsense probably null
R9653:Itpkb UTSW 1 180,160,056 (GRCm39) nonsense probably null
R9757:Itpkb UTSW 1 180,160,372 (GRCm39) missense probably benign 0.03
R9762:Itpkb UTSW 1 180,161,752 (GRCm39) missense probably benign 0.23
RF008:Itpkb UTSW 1 180,160,887 (GRCm39) missense probably damaging 0.99
RF017:Itpkb UTSW 1 180,160,887 (GRCm39) missense probably damaging 0.99
RF018:Itpkb UTSW 1 180,160,887 (GRCm39) missense probably damaging 0.99
X0066:Itpkb UTSW 1 180,249,345 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TTCTAAGGGACTGTTACAAGGTG -3'
(R):5'- TCGAGGAGAAGAGGCTCTTG -3'

Sequencing Primer
(F):5'- TTACAAGGTGACGGGGTCC -3'
(R):5'- CTCTTGGCAGAGTGGGGC -3'
Posted On 2016-11-08