Incidental Mutation 'RF018:Itpkb'
ID 603653
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 # RF018 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 180158050-180252367 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 180160887 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 338 (R338W)
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: R338W

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000069851
Gene: ENSMUSG00000038855
AA Change: R338W

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: 99.8%
  • 3x: 99.7%
  • 10x: 99.3%
  • 20x: 98.6%
Validation Efficiency 100% (54/54)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A030005L19Rik GTGGCTGCT GTGGCTGCTTTGGCTGCT 1: 82,891,293 (GRCm39) probably benign Het
Abca15 T A 7: 119,993,683 (GRCm39) V1301E possibly damaging Het
Adcy10 T A 1: 165,379,678 (GRCm39) V980E probably damaging Het
Aldh1a2 T C 9: 71,192,552 (GRCm39) V469A probably damaging Het
Alk T A 17: 72,256,808 (GRCm39) T684S probably benign Het
Ankhd1 GGCGGC GGCGGCAGCGGC 18: 36,693,965 (GRCm39) probably benign Het
Anks1b G A 10: 89,869,087 (GRCm39) G49D probably damaging Het
Blm CCTCCTCC CCTCCTCCTCCTACTCCTCC 7: 80,162,674 (GRCm39) probably null Het
Btnl10 CAAA CAAAAAA 11: 58,814,752 (GRCm39) probably benign Het
Ccdc81 C A 7: 89,515,906 (GRCm39) probably null Het
Cd209g A G 8: 4,187,398 (GRCm39) Y194C probably benign Het
Cenpc1 A T 5: 86,193,228 (GRCm39) S220R possibly damaging Het
Ddx42 A T 11: 106,123,630 (GRCm39) probably null Het
Dock4 GTGCCGGTGCCCGT G 12: 40,894,398 (GRCm39) probably null Het
Eif5b A T 1: 38,060,673 (GRCm39) probably null Het
Ell2 C A 13: 75,911,727 (GRCm39) H338N probably damaging Het
Entpd2 CTT CTTT 2: 25,290,907 (GRCm39) probably null Het
Flywch1 CCACTCCTGGTGT CCACTCCTGGTGTGGGGAGGCTACGTACTCACGCACTCCTGGTGT 17: 23,981,140 (GRCm39) probably null Het
Gm8369 GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG 19: 11,489,106 (GRCm39) probably null Het
Gnat2 T C 3: 108,003,645 (GRCm39) S107P unknown Het
Guk1 T A 11: 59,077,234 (GRCm39) D70V probably benign Het
Krtap28-10 ACCACAGCCACAGCCACCACAGCCACAGCC ACCACAGCCACAGCCCCCACAGCCACAGCCACCACAGCCACAGCC 1: 83,019,974 (GRCm39) probably benign Het
Lamp3 A C 16: 19,520,000 (GRCm39) I61R probably benign Het
Lrch1 GCTGGTGGTGT G 14: 75,184,995 (GRCm39) probably null Het
Lrp1b C T 2: 41,000,919 (GRCm39) E2216K Het
Lrrc27 A G 7: 138,806,016 (GRCm39) D227G probably benign Het
Lrrk1 C T 7: 66,031,250 (GRCm39) G16E possibly damaging Het
Lrrtm1 T A 6: 77,221,334 (GRCm39) S264T possibly damaging Het
Lypd8 CCAATCACCAACA CCAATCACCAACAGTTTCCTCGCCTCTGTTACCCCACCAATCACCAACA 11: 58,281,058 (GRCm39) probably benign Het
Mamld1 CAG CAGAAG X: 70,162,455 (GRCm39) probably benign Het
Mpo G C 11: 87,688,465 (GRCm39) A375P probably damaging Het
Myo9a A G 9: 59,776,869 (GRCm39) H1089R probably benign Het
Nalf2 CGCCGC CGCCGCTGCCGC X: 98,864,967 (GRCm39) probably benign Het
Ndufc2 T C 7: 97,056,228 (GRCm39) *109Q probably null Het
Nudt16 A T 9: 105,008,898 (GRCm39) Y28N probably damaging Het
Nudt4 A T 10: 95,385,675 (GRCm39) probably null Het
Nusap1 AGATACACGTTAGCAGTGAGGAGCAAGCTG AGATACACGTTAGCAGTGAGGAGCAAGCTGCGATACACGTTAGCAGTGAGGAGCAAGCTG 2: 119,458,059 (GRCm39) probably benign Het
Or2ag15 T A 7: 106,340,692 (GRCm39) I150F probably benign Het
P2ry12 T A 3: 59,124,833 (GRCm39) T281S probably benign Het
P4ha2 TGTTGG T 11: 54,001,072 (GRCm39) probably null Het
Pcnx2 A G 8: 126,604,258 (GRCm39) V666A probably damaging Het
Pde6a T A 18: 61,364,475 (GRCm39) I177N possibly damaging Het
Pgm1 A T 4: 99,819,500 (GRCm39) probably null Het
Plce1 T A 19: 38,705,651 (GRCm39) W1019R probably damaging Het
Plch1 C A 3: 63,628,636 (GRCm39) K542N probably damaging Het
Plekhj1 T C 10: 80,632,471 (GRCm39) Q113R not run Het
Postn A T 3: 54,291,913 (GRCm39) I705F probably damaging Het
Ppp1r15b G T 1: 133,059,352 (GRCm39) probably benign Het
Prkab1 T C 5: 116,159,689 (GRCm39) E59G probably damaging Het
Qrfprl T A 6: 65,433,174 (GRCm39) Y331* probably null Het
Raph1 GG GGGGG 1: 60,528,426 (GRCm39) probably benign Het
Rassf6 AGCAATGGGGATTC AGCAATGGGGATTCTGCCTCACTCATGGTCCTGTAGCGCAATGGGGATTC 5: 90,756,788 (GRCm39) probably benign Het
Rnf144a TCTC TCTCTCTCTCTCTCTCACTC 12: 26,364,013 (GRCm39) probably benign Het
Ros1 T A 10: 52,031,217 (GRCm39) M484L probably benign Het
Rpa1 GCTGCTGCC GC 11: 75,209,343 (GRCm39) probably null Het
Sectm1b A G 11: 120,945,756 (GRCm39) V195A probably benign Het
Sirpa TCATCAG T 2: 129,451,123 (GRCm39) probably null Het
Slc28a1 T A 7: 80,819,032 (GRCm39) probably null Het
Sphk1 G C 11: 116,425,771 (GRCm39) S42T possibly damaging Het
Spta1 T C 1: 174,036,885 (GRCm39) L1132P probably damaging Het
Srrt A T 5: 137,298,262 (GRCm39) N303K probably benign Het
Ssh2 A G 11: 77,344,880 (GRCm39) E955G probably damaging Het
Strn CCAGTC CCAGTCCGTGCTCCCTTACCCCAGTCCGTGCTCCCTTACCACAGTC 17: 78,984,712 (GRCm39) probably null Het
Tchhl1 T C 3: 93,377,691 (GRCm39) F132L probably benign Het
Tex14 A G 11: 87,405,572 (GRCm39) E828G probably benign Het
Tfeb CAG CAGGAG 17: 48,097,020 (GRCm39) probably benign Het
Tmtc1 T C 6: 148,149,009 (GRCm39) Y699C probably damaging Het
Ubn1 A G 16: 4,882,256 (GRCm39) Y239C probably damaging Het
Vmn2r23 T G 6: 123,690,075 (GRCm39) L317R probably benign Het
Vmn2r78 C T 7: 86,603,639 (GRCm39) R606* probably null Het
Vps72 T G 3: 95,028,719 (GRCm39) probably null Het
Zc3h11a A G 1: 133,554,853 (GRCm39) S376P possibly damaging Het
Zfp384 GCCCAGGC GCCCAGGCCCAGTCCCAGGC 6: 125,013,452 (GRCm39) probably benign Het
Zfp598 CAACCAC CAACCACAACCAC 17: 24,899,745 (GRCm39) probably benign Het
Zfp628 TACTCCTCCACCC T 7: 4,923,948 (GRCm39) 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
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
X0066:Itpkb UTSW 1 180,249,345 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- AACTGACAAGAGGGTTGCTC -3'
(R):5'- TACGGAATCCAGGTCTACAGG -3'

Sequencing Primer
(F):5'- CCCTCACTGGAGCGCTTTG -3'
(R):5'- GTCTACAGGCAGTCTAGACCATCTG -3'
Posted On 2019-12-04