Incidental Mutation 'R3792:Itpkb'
ID 272566
Institutional Source Beutler Lab
Gene Symbol Itpkb
Ensembl Gene ENSMUSG00000038855
Gene Name inositol 1,4,5-trisphosphate 3-kinase B
Synonyms 1110033J02Rik, E130307H12Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.816) question?
Stock # R3792 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 180158050-180252367 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 180160738 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 288 (L288Q)
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 noncoding transcript
Transcript: ENSMUST00000050581
SMART Domains Protein: ENSMUSP00000050698
Gene: ENSMUSG00000055676

DomainStartEndE-ValueType
Gp_dh_N 2 154 5.53e-95 SMART
Pfam:Gp_dh_C 159 316 5.8e-70 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000070181
AA Change: L288Q

PolyPhen 2 Score 0.813 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000069851
Gene: ENSMUSG00000038855
AA Change: L288Q

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192714
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195043
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930595M18Rik A G X: 80,464,423 (GRCm39) V428A probably benign Het
Aanat T C 11: 116,487,057 (GRCm39) L88P probably damaging Het
Arhgap5 A T 12: 52,566,671 (GRCm39) N1214I probably benign Het
BC034090 A T 1: 155,117,543 (GRCm39) S192T probably damaging Het
Bco1 G A 8: 117,857,415 (GRCm39) V461I possibly damaging Het
Cass4 C T 2: 172,274,478 (GRCm39) P753L probably damaging Het
Cripto C T 9: 110,772,258 (GRCm39) R46Q probably benign Het
Cubn G A 2: 13,432,725 (GRCm39) R1199C probably damaging Het
Dcaf12l1 T C X: 43,877,313 (GRCm39) N495S possibly damaging Het
Dop1b C A 16: 93,568,734 (GRCm39) Q1599K possibly damaging Het
Dyrk1a C A 16: 94,485,933 (GRCm39) L427I probably benign Het
Esp16 T C 17: 39,848,739 (GRCm39) I11T possibly damaging Het
Esyt3 A T 9: 99,197,334 (GRCm39) F832Y possibly damaging Het
F8 A T X: 74,328,971 (GRCm39) probably null Het
Fam135a T C 1: 24,067,392 (GRCm39) Y259C probably benign Het
Fbxo38 T C 18: 62,666,533 (GRCm39) probably null Het
Fbxo43 T C 15: 36,163,005 (GRCm39) I67M probably benign Het
Gcfc2 G T 6: 81,907,748 (GRCm39) C154F probably benign Het
Hipk2 C T 6: 38,675,491 (GRCm39) R1029H probably damaging Het
Ilk G A 7: 105,391,294 (GRCm39) W73* probably null Het
Ism1 T C 2: 139,582,173 (GRCm39) S162P probably damaging Het
Itpr2 C A 6: 146,316,852 (GRCm39) K306N probably damaging Het
Kdm2a C T 19: 4,374,540 (GRCm39) E864K possibly damaging Het
Kdm4b G A 17: 56,662,944 (GRCm39) V172M probably damaging Het
Kyat3 A T 3: 142,443,605 (GRCm39) K406M probably null Het
Lipe T A 7: 25,097,045 (GRCm39) K299N possibly damaging Het
Lrrc2 T A 9: 110,795,585 (GRCm39) C123* probably null Het
Mptx2 T A 1: 173,102,240 (GRCm39) I150F probably damaging Het
Mroh2b G T 15: 4,953,102 (GRCm39) W612L probably damaging Het
Mucl2 T C 15: 103,928,692 (GRCm39) T27A possibly damaging Het
Nfx1 T A 4: 41,004,357 (GRCm39) C709* probably null Het
Oprm1 T C 10: 6,789,544 (GRCm39) S390P probably benign Het
Or2m12 A G 16: 19,104,696 (GRCm39) S266P possibly damaging Het
Or51v8 A T 7: 103,319,353 (GRCm39) I295N probably damaging Het
Pcdhb14 T C 18: 37,582,715 (GRCm39) L607P probably damaging Het
Rap1gds1 A T 3: 138,671,721 (GRCm39) I133N probably damaging Het
Rasl10a T C 11: 5,009,461 (GRCm39) L83S probably damaging Het
Satb2 C T 1: 56,884,779 (GRCm39) V382M probably damaging Het
Sh3gl1 T C 17: 56,325,949 (GRCm39) K160R probably damaging Het
Sirt4 T C 5: 115,618,351 (GRCm39) D241G probably benign Het
Sla2 G A 2: 156,717,862 (GRCm39) R137C probably damaging Het
Spef2 A G 15: 9,704,622 (GRCm39) I454T probably damaging Het
Stag3 A G 5: 138,296,611 (GRCm39) K490E probably benign Het
Tcstv7b G T 13: 120,702,467 (GRCm39) V88F probably damaging Het
Tctn3 T C 19: 40,600,155 (GRCm39) K95R probably benign Het
Trp53bp1 T C 2: 121,030,810 (GRCm39) I1784V probably damaging Het
Ttc21a A T 9: 119,783,231 (GRCm39) E511V probably damaging Het
Ttn A G 2: 76,542,232 (GRCm39) F25258L probably damaging Het
Ttn A C 2: 76,639,290 (GRCm39) C13828G probably damaging Het
Vmn1r210 T A 13: 23,011,573 (GRCm39) M238L probably damaging Het
Vmn1r38 A G 6: 66,753,891 (GRCm39) I75T probably benign Het
Vmn2r84 T A 10: 130,221,669 (GRCm39) *850C probably null Het
Vwa7 T C 17: 35,244,135 (GRCm39) probably null Het
Zfp128 T A 7: 12,618,659 (GRCm39) D52E probably damaging Het
Zfp618 T C 4: 63,033,728 (GRCm39) probably benign Het
Zkscan2 T A 7: 123,084,225 (GRCm39) E633V possibly damaging 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
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
R5514:Itpkb UTSW 1 180,241,474 (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'- GTCCTGGGGAGAACAATGTAC -3'
(R):5'- TCTCCTTGCCCAGAAACTGC -3'

Sequencing Primer
(F):5'- CCAGATACCAACTCTGGAAGGAG -3'
(R):5'- GAAACTGCCCCCGTCTC -3'
Posted On 2015-03-25