Incidental Mutation 'R5772:Itpkb'
ID 445422
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: 0.814) question?
Stock # R5772 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 180158050-180252367 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) A to G at 180161818 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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 probably benign
Transcript: ENSMUST00000070181
SMART Domains Protein: ENSMUSP00000069851
Gene: ENSMUSG00000038855

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: ENSMUST00000195043
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 98% (64/65)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932416K20Rik G A 8: 105,524,271 (GRCm39) noncoding transcript Het
Abcg8 A T 17: 84,994,127 (GRCm39) E48V probably damaging Het
Afap1l2 T C 19: 56,911,406 (GRCm39) T289A probably benign Het
Atf6 T A 1: 170,574,758 (GRCm39) D560V probably damaging Het
Bcl2l14 A T 6: 134,404,362 (GRCm39) K183N probably damaging Het
Carmil3 T C 14: 55,730,696 (GRCm39) L52P probably damaging Het
Cct3 T A 3: 88,208,274 (GRCm39) N61K probably damaging Het
Col18a1 A G 10: 77,002,177 (GRCm39) V10A unknown Het
Col26a1 G A 5: 136,876,420 (GRCm39) Q67* probably null Het
Cyp2d34 T C 15: 82,501,341 (GRCm39) D329G probably null Het
Dchs1 T A 7: 105,422,247 (GRCm39) I58F probably damaging Het
Ddx60 T C 8: 62,401,931 (GRCm39) L269P probably damaging Het
Dis3l2 G A 1: 86,806,154 (GRCm39) G325D probably damaging Het
Dync1h1 A T 12: 110,612,707 (GRCm39) K2861* probably null Het
Ednra A G 8: 78,401,696 (GRCm39) I198T possibly damaging Het
Ep300 T C 15: 81,524,115 (GRCm39) probably benign Het
Fam120a G A 13: 49,034,409 (GRCm39) P1068S probably benign Het
Fsip2 A T 2: 82,815,084 (GRCm39) M3606L probably benign Het
Garre1 A T 7: 33,953,413 (GRCm39) W238R probably damaging Het
Gm7713 T C 15: 59,866,492 (GRCm39) noncoding transcript Het
Gprin3 A T 6: 59,331,398 (GRCm39) V303D possibly damaging Het
Hmcn1 A T 1: 150,570,629 (GRCm39) V2178D possibly damaging Het
Hoxa11 A G 6: 52,222,380 (GRCm39) V107A possibly damaging Het
Iqub C A 6: 24,454,250 (GRCm39) M544I possibly damaging Het
Itgb4 A T 11: 115,879,258 (GRCm39) probably benign Het
Kalrn A T 16: 33,796,190 (GRCm39) V1195E probably damaging Het
Kif12 C A 4: 63,084,178 (GRCm39) R608M probably damaging Het
Lcorl A T 5: 45,952,709 (GRCm39) probably null Het
Lrrc24 T C 15: 76,606,910 (GRCm39) E162G probably damaging Het
Med6 A G 12: 81,626,418 (GRCm39) S119P probably damaging Het
Mmab A C 5: 114,574,775 (GRCm39) L166R probably damaging Het
Myef2l A G 3: 10,153,566 (GRCm39) R112G probably damaging Het
Nom1 A G 5: 29,651,873 (GRCm39) K737R possibly damaging Het
Obscn T C 11: 58,946,970 (GRCm39) S4352G probably damaging Het
Or10ag60 A T 2: 87,438,517 (GRCm39) T262S probably benign Het
Or2w25 T A 11: 59,504,712 (GRCm39) D307E probably benign Het
Or4k35 A T 2: 111,100,057 (GRCm39) Y218* probably null Het
Or6d12 A C 6: 116,492,912 (GRCm39) D58A possibly damaging Het
Pdzrn3 G A 6: 101,149,275 (GRCm39) S351L probably benign Het
Pdzrn4 A T 15: 92,655,562 (GRCm39) E485V probably damaging Het
Prkdc T A 16: 15,597,252 (GRCm39) I2804K possibly damaging Het
Psg28 A G 7: 18,164,640 (GRCm39) L24P probably damaging Het
Resp18 A G 1: 75,250,644 (GRCm39) V145A possibly damaging Het
Rgl3 T C 9: 21,892,908 (GRCm39) M259V probably benign Het
Rhot2 A T 17: 26,058,781 (GRCm39) S540T probably benign Het
Ring1 T C 17: 34,241,282 (GRCm39) Y278C possibly damaging Het
Rpn2 A G 2: 157,137,265 (GRCm39) Y216C probably damaging Het
Scgb2b18 G A 7: 32,873,255 (GRCm39) L5F unknown Het
Slamf7 T C 1: 171,466,838 (GRCm39) probably null Het
Slc22a12 T C 19: 6,590,479 (GRCm39) N237S possibly damaging Het
Spen A T 4: 141,205,495 (GRCm39) V1044D unknown Het
Sqor A T 2: 122,651,261 (GRCm39) M175L probably benign Het
Stx16 G A 2: 173,935,292 (GRCm39) G156R probably damaging Het
Tars3 T G 7: 65,333,873 (GRCm39) F632V probably damaging Het
Tln1 A G 4: 43,545,191 (GRCm39) V1008A probably benign Het
Tmem145 A G 7: 25,015,039 (GRCm39) H554R probably benign Het
Trank1 A T 9: 111,195,744 (GRCm39) D1256V possibly damaging Het
Trbv19 A G 6: 41,155,794 (GRCm39) Y55C possibly damaging Het
Ttc23l C T 15: 10,551,555 (GRCm39) C57Y probably benign Het
Uap1 A T 1: 169,988,949 (GRCm39) C158S probably benign Het
Zfp353-ps T A 8: 42,535,647 (GRCm39) noncoding transcript Het
Zfp629 T A 7: 127,210,307 (GRCm39) I501F probably damaging Het
Zfp820 T C 17: 22,037,702 (GRCm39) Y542C probably 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
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
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'- TTACAGATATGGGTGCTCAGGAG -3'
(R):5'- AACGCATCTCTGCTCACCAG -3'

Sequencing Primer
(F):5'- GAGATCCAAGGAAGCCCTCG -3'
(R):5'- GCTCACCAGCTTTAGAAATTAGG -3'
Posted On 2016-11-21