Incidental Mutation 'R4735:Itpkb'
ID 356421
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 041962-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.816) question?
Stock # R4735 (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 C at 180245780 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 766 (Y766H)
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: Y766H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000069851
Gene: ENSMUSG00000038855
AA Change: Y766H

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.0%
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: 133 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T A 12: 71,262,897 (GRCm39) I1410N possibly damaging Het
9230106D20Rik T C 10: 19,536,001 (GRCm39) noncoding transcript Het
Acsf3 T A 8: 123,508,218 (GRCm39) I238N probably damaging Het
Ahctf1 T C 1: 179,580,964 (GRCm39) N1746S probably benign Het
Akap3 T C 6: 126,842,601 (GRCm39) S407P probably damaging Het
Ankfy1 T A 11: 72,621,437 (GRCm39) M241K probably benign Het
Ano7 C A 1: 93,328,216 (GRCm39) T622K probably benign Het
App T C 16: 84,900,202 (GRCm39) T83A probably damaging Het
Arhgef28 T A 13: 98,036,237 (GRCm39) E1674V probably damaging Het
Asb2 C A 12: 103,291,317 (GRCm39) V489L probably benign Het
Atrn T C 2: 130,862,910 (GRCm39) V1330A probably benign Het
Bltp1 T A 3: 37,059,116 (GRCm39) N3267K possibly damaging Het
Brca1 A G 11: 101,383,001 (GRCm39) probably null Het
Bspry G A 4: 62,404,762 (GRCm39) R186Q probably damaging Het
Ccdc168 A G 1: 44,100,861 (GRCm39) I79T probably benign Het
Cdkn2d C G 9: 21,202,185 (GRCm39) V21L probably benign Het
Celsr1 T A 15: 85,790,230 (GRCm39) probably null Het
Ckap4 A G 10: 84,369,384 (GRCm39) V116A possibly damaging Het
Crb3 A G 17: 57,372,207 (GRCm39) T85A probably damaging Het
Cyld T C 8: 89,456,278 (GRCm39) S443P probably damaging Het
Cyp27a1 T G 1: 74,776,366 (GRCm39) V434G possibly damaging Het
Cyp2b13 A G 7: 25,787,720 (GRCm39) T339A probably benign Het
Dars1 A T 1: 128,303,971 (GRCm39) L252* probably null Het
Dcaf10 G A 4: 45,372,769 (GRCm39) R394Q possibly damaging Het
Ddx55 T C 5: 124,704,539 (GRCm39) F382S probably damaging Het
Dmtf1l T A X: 125,722,217 (GRCm39) K296M probably damaging Het
Dnah7b G A 1: 46,106,115 (GRCm39) R33Q unknown Het
Dnm2 G T 9: 21,385,883 (GRCm39) S302I probably damaging Het
Dock4 T A 12: 40,681,525 (GRCm39) F75I probably benign Het
Dpp10 T C 1: 123,326,356 (GRCm39) N365S probably benign Het
Dpy19l3 G T 7: 35,422,146 (GRCm39) Q236K probably benign Het
Dsp T C 13: 38,380,016 (GRCm39) S1655P probably damaging Het
Ebpl A T 14: 61,579,567 (GRCm39) I117N probably damaging Het
Edc4 T A 8: 106,613,818 (GRCm39) V386E probably damaging Het
Eif2s2 T A 2: 154,720,467 (GRCm39) probably null Het
Elob A T 17: 24,046,562 (GRCm39) probably null Het
Enox2 T C X: 48,158,554 (GRCm39) I71V probably damaging Het
Fez1 A T 9: 36,772,141 (GRCm39) K149* probably null Het
Fhip2a A G 19: 57,359,661 (GRCm39) E67G probably damaging Het
Fign A G 2: 63,810,782 (GRCm39) Y163H probably damaging Het
Flnc G A 6: 29,455,812 (GRCm39) G2048S probably damaging Het
Fras1 A G 5: 96,736,022 (GRCm39) D539G probably benign Het
Frmd4b T C 6: 97,436,220 (GRCm39) probably benign Het
Gan C T 8: 117,920,970 (GRCm39) T402M probably damaging Het
Ganc T A 2: 120,267,104 (GRCm39) silent Het
Ggt6 C A 11: 72,327,425 (GRCm39) R103S probably benign Het
Gli2 T C 1: 118,768,052 (GRCm39) D725G probably damaging Het
Gm15446 T A 5: 110,090,818 (GRCm39) C357S probably damaging Het
Gm44501 A G 17: 40,889,810 (GRCm39) N108S probably benign Het
Gm6309 A T 5: 146,105,054 (GRCm39) D286E probably damaging Het
Gm6358 G A 16: 88,937,848 (GRCm39) G29E unknown Het
Grik5 A G 7: 24,757,713 (GRCm39) I422T probably damaging Het
Grin2c A G 11: 115,140,422 (GRCm39) I1232T possibly damaging Het
Gsg1 C T 6: 135,214,405 (GRCm39) R365H possibly damaging Het
H2-M2 A G 17: 37,794,135 (GRCm39) S30P possibly damaging Het
Hcfc2 A G 10: 82,547,914 (GRCm39) D302G probably damaging Het
Hk2 T C 6: 82,721,955 (GRCm39) D128G probably benign Het
Hmcn2 C A 2: 31,273,787 (GRCm39) Q1380K probably benign Het
Hsp90b1 G T 10: 86,529,819 (GRCm39) P617T probably damaging Het
Htr1d A G 4: 136,170,197 (GRCm39) E142G probably benign Het
Hydin G A 8: 111,282,264 (GRCm39) probably null Het
Il1r1 T A 1: 40,332,455 (GRCm39) N81K probably benign Het
Inpp5b T C 4: 124,677,760 (GRCm39) S407P probably damaging Het
Lyrm2 T A 4: 32,801,150 (GRCm39) I65N probably damaging Het
Mink1 T A 11: 70,500,086 (GRCm39) probably null Het
Mkrn3 C T 7: 62,069,452 (GRCm39) R113H probably damaging Het
Msx3 G A 7: 139,627,798 (GRCm39) A157V probably damaging Het
Nrxn2 T G 19: 6,548,484 (GRCm39) V59G possibly damaging Het
Nt5c3b T C 11: 100,331,732 (GRCm39) T12A probably benign Het
Nwd2 G A 5: 63,965,594 (GRCm39) R1726Q probably benign Het
Nynrin A G 14: 56,107,625 (GRCm39) T911A probably benign Het
Or11i1 T A 3: 106,728,996 (GRCm39) Y293F probably damaging Het
Or4p18 T C 2: 88,233,267 (GRCm39) T4A probably benign Het
Or51aa5 A G 7: 103,167,030 (GRCm39) I187T possibly damaging Het
Or51af1 C T 7: 103,141,267 (GRCm39) V273M possibly damaging Het
Or52n20 C T 7: 104,320,200 (GRCm39) T97I probably benign Het
Or5p66 A G 7: 107,885,520 (GRCm39) M271T probably benign Het
Or6c212 A G 10: 129,558,792 (GRCm39) I207T probably benign Het
Patl1 G T 19: 11,899,869 (GRCm39) M220I probably benign Het
Pcnx2 A T 8: 126,554,780 (GRCm39) probably null Het
Pigr A T 1: 130,774,291 (GRCm39) T424S probably damaging Het
Pik3c2b T A 1: 132,994,787 (GRCm39) D250E probably benign Het
Ppa2 G A 3: 133,076,186 (GRCm39) E272K probably benign Het
Pramel7 G A 2: 87,321,187 (GRCm39) Q283* probably null Het
Prelid3b A G 2: 174,307,683 (GRCm39) I81T probably benign Het
Prpf38a T C 4: 108,436,242 (GRCm39) I24V possibly damaging Het
Ptger2 A G 14: 45,239,295 (GRCm39) D311G possibly damaging Het
Rab4b A T 7: 26,872,191 (GRCm39) probably benign Het
Rad17 A C 13: 100,755,637 (GRCm39) D581E probably damaging Het
Samd11 T C 4: 156,333,230 (GRCm39) T333A probably benign Het
Scaf4 C T 16: 90,049,320 (GRCm39) D256N unknown Het
Serinc2 A G 4: 130,157,438 (GRCm39) F82L probably benign Het
Serpina3g T A 12: 104,205,372 (GRCm39) V37E probably damaging Het
Serpinb9c T A 13: 33,334,254 (GRCm39) M263L probably benign Het
Shbg A G 11: 69,508,326 (GRCm39) I67T possibly damaging Het
Slc25a48 G A 13: 56,596,887 (GRCm39) probably null Het
Slc25a54 T C 3: 109,005,923 (GRCm39) W144R probably damaging Het
Slc34a1 A T 13: 55,561,397 (GRCm39) T621S probably benign Het
Slc6a18 A T 13: 73,814,554 (GRCm39) C419S probably benign Het
Smc5 A T 19: 23,220,069 (GRCm39) D389E probably benign Het
Smco3 T A 6: 136,808,636 (GRCm39) E79D probably damaging Het
Sox5 A G 6: 143,906,561 (GRCm39) F298S probably damaging Het
Sphkap A G 1: 83,256,838 (GRCm39) S304P probably benign Het
Tcea2 C T 2: 181,328,514 (GRCm39) T211I probably damaging Het
Tcf4 G T 18: 69,697,226 (GRCm39) S34I possibly damaging Het
Tlr4 C T 4: 66,759,435 (GRCm39) R743C probably damaging Het
Tmem183a T C 1: 134,288,620 (GRCm39) E67G probably damaging Het
Tpr C T 1: 150,317,947 (GRCm39) R2152C possibly damaging Het
Trbv15 T C 6: 41,118,358 (GRCm39) I38T probably benign Het
Treh G A 9: 44,592,849 (GRCm39) A125T probably damaging Het
Trio A T 15: 27,752,875 (GRCm39) probably null Het
Ttn A G 2: 76,782,293 (GRCm39) V981A probably damaging Het
Uap1l1 A G 2: 25,252,732 (GRCm39) L436P probably damaging Het
Uba7 A T 9: 107,854,115 (GRCm39) I182F possibly damaging Het
Unc13c A T 9: 73,600,620 (GRCm39) S1375T probably benign Het
Usp48 C CT 4: 137,360,680 (GRCm39) probably null Het
Utp20 A C 10: 88,652,780 (GRCm39) V378G possibly damaging Het
Vmn1r69 A T 7: 10,314,926 (GRCm39) probably benign Het
Vmn1r86 A T 7: 12,836,221 (GRCm39) H218Q probably damaging Het
Vmn2r121 T A X: 123,038,335 (GRCm39) I562L probably benign Het
Vmn2r45 A T 7: 8,486,472 (GRCm39) I272N probably damaging Het
Wdr90 A G 17: 26,078,424 (GRCm39) V320A probably benign Het
Wfikkn1 A G 17: 26,097,367 (GRCm39) V319A possibly damaging Het
Whamm A G 7: 81,221,122 (GRCm39) D18G probably benign Het
Wrn T A 8: 33,775,250 (GRCm39) I605F probably damaging Het
Zdhhc18 A G 4: 133,341,178 (GRCm39) F232L probably damaging Het
Zfp41 T C 15: 75,490,609 (GRCm39) I187T probably benign Het
Zfp418 A G 7: 7,185,561 (GRCm39) Y508C probably damaging Het
Zfp560 T G 9: 20,260,347 (GRCm39) I172L probably benign Het
Zfp943 A T 17: 22,211,391 (GRCm39) D159V probably benign Het
Zfp955a T C 17: 33,460,696 (GRCm39) I479V probably benign Het
Zfpm1 T A 8: 123,062,219 (GRCm39) V426D probably benign Het
Zic1 C T 9: 91,246,558 (GRCm39) M171I 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
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
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'- ACTGTCCTGAGTCAAAGCAC -3'
(R):5'- GCGAGGCTTATAGATTCCAGTC -3'

Sequencing Primer
(F):5'- GCACAGCCAACTCAGGG -3'
(R):5'- AGGCTTATAGATTCCAGTCTCCCAAG -3'
Posted On 2015-11-11