Mutagenetix > Incidental Mutation

Incidental Mutation 'R0616:Itpkb'

58284

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

038805-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.816) question?

Stock #

R0616 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

180158050-180252367 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 180249301 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 892 (I892T)

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: I892T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000069851
Gene: ENSMUSG00000038855
AA Change: I892T

Domain	Start	End	E-Value	Type
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: 99.4%
3x: 98.9%
10x: 97.5%
20x: 95.1%

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	G	T	1: 71,341,830 (GRCm39)	Q1044K	probably damaging	Het
Abi3bp	A	T	16: 56,474,433 (GRCm39)	T723S	probably damaging	Het
Ackr3	G	A	1: 90,142,191 (GRCm39)	V217I	probably benign	Het
Acnat2	A	G	4: 49,380,269 (GRCm39)	S370P	probably damaging	Het
Arap1	A	G	7: 101,050,857 (GRCm39)	R1152G	possibly damaging	Het
Arhgap15	G	A	2: 44,006,729 (GRCm39)		probably null	Het
Arhgap5	C	T	12: 52,563,848 (GRCm39)	T273I	possibly damaging	Het
Armh4	G	T	14: 50,011,113 (GRCm39)	T198K	possibly damaging	Het
C1s2	T	C	6: 124,605,723 (GRCm39)	E332G	probably damaging	Het
Camp	G	A	9: 109,677,707 (GRCm39)	R88W	probably benign	Het
Cdkl2	A	G	5: 92,156,863 (GRCm39)	M564T	probably benign	Het
Ceacam20	A	G	7: 19,704,321 (GRCm39)	H124R	probably benign	Het
Cep19	C	T	16: 31,922,829 (GRCm39)	R32C	probably damaging	Het
Cep295	G	A	9: 15,243,618 (GRCm39)	Q1565*	probably null	Het
Chd3	T	C	11: 69,236,313 (GRCm39)	E1932G	probably damaging	Het
Cibar1	G	A	4: 12,168,234 (GRCm39)	R210*	probably null	Het
Cnr2	G	T	4: 135,644,873 (GRCm39)	W317L	probably benign	Het
Cntnap5a	C	T	1: 116,508,279 (GRCm39)	H1264Y	possibly damaging	Het
Depdc7	T	A	2: 104,557,650 (GRCm39)	N200I	probably benign	Het
Dock4	T	C	12: 40,754,414 (GRCm39)	S468P	probably benign	Het
Dscc1	C	A	15: 54,946,966 (GRCm39)	C253F	probably benign	Het
Fam217a	C	A	13: 35,097,666 (GRCm39)	S55I	probably benign	Het
Farp1	G	A	14: 121,514,434 (GRCm39)	R921H	probably damaging	Het
Fat4	A	G	3: 38,997,019 (GRCm39)	D1746G	probably damaging	Het
Fbxw5	T	C	2: 25,392,517 (GRCm39)	F100L	probably damaging	Het
Gli3	C	A	13: 15,836,991 (GRCm39)	T458K	possibly damaging	Het
Gm4841	T	C	18: 60,404,009 (GRCm39)	Y28C	probably benign	Het
Gprc5d	T	C	6: 135,093,430 (GRCm39)	E159G	probably benign	Het
Grm4	A	T	17: 27,653,538 (GRCm39)	I757N	probably damaging	Het
Hagh	A	G	17: 25,076,551 (GRCm39)	Y94C	probably damaging	Het
Hycc1	T	C	5: 24,191,770 (GRCm39)	T44A	probably damaging	Het
Kcmf1	T	C	6: 72,827,467 (GRCm39)	I58V	probably benign	Het
Khdrbs2	A	G	1: 32,506,856 (GRCm39)	I167V	possibly damaging	Het
Kmt2c	A	G	5: 25,504,250 (GRCm39)	I275T	probably benign	Het
Lingo4	A	G	3: 94,310,388 (GRCm39)	K442R	probably benign	Het
Mak	T	C	13: 41,195,661 (GRCm39)	N382D	probably benign	Het
Maob	G	A	X: 16,576,402 (GRCm39)	T480I	possibly damaging	Het
Mcoln1	A	G	8: 3,565,025 (GRCm39)	E573G	probably benign	Het
Ms4a6b	G	A	19: 11,504,262 (GRCm39)		probably null	Het
Muc5ac	A	G	7: 141,349,981 (GRCm39)	M576V	probably benign	Het
Nme8	T	A	13: 19,875,029 (GRCm39)	D126V	probably benign	Het
Npy2r	T	A	3: 82,448,670 (GRCm39)	D35V	possibly damaging	Het
Nrxn1	T	C	17: 90,670,285 (GRCm39)	D193G	probably damaging	Het
Or2g7	A	C	17: 38,378,131 (GRCm39)	E23A	probably damaging	Het
Or2y1e	T	C	11: 49,218,583 (GRCm39)	L115P	probably damaging	Het
Or4c10b	T	A	2: 89,711,935 (GRCm39)	V255E	probably benign	Het
Or4d5	A	T	9: 40,012,283 (GRCm39)	F168I	probably damaging	Het
Or52b4i	T	A	7: 102,191,761 (GRCm39)	M206K	possibly damaging	Het
Or6d14	A	G	6: 116,533,889 (GRCm39)	I168V	probably benign	Het
Or8b3b	A	T	9: 38,584,776 (GRCm39)	M1K	probably null	Het
Or8c17	G	T	9: 38,180,630 (GRCm39)	V266L	probably benign	Het
Or8g18	G	A	9: 39,148,946 (GRCm39)	T258M	probably benign	Het
Pabpc2	A	T	18: 39,906,792 (GRCm39)	H19L	possibly damaging	Het
Pcdhb9	A	T	18: 37,535,028 (GRCm39)	K341*	probably null	Het
Pde4dip	T	C	3: 97,654,849 (GRCm39)	I859M	probably benign	Het
Pfkfb2	T	C	1: 130,634,159 (GRCm39)		probably null	Het
Pigg	C	T	5: 108,461,951 (GRCm39)	T94M	probably damaging	Het
Pik3c2b	T	C	1: 133,028,569 (GRCm39)	F1353L	probably damaging	Het
Prg4	T	C	1: 150,336,462 (GRCm39)	D87G	probably damaging	Het
Prkdc	A	T	16: 15,508,271 (GRCm39)	D974V	probably damaging	Het
Prmt3	A	G	7: 49,437,076 (GRCm39)	Y217C	probably damaging	Het
Proser1	A	G	3: 53,382,118 (GRCm39)	T192A	probably damaging	Het
Rab3d	G	A	9: 21,826,060 (GRCm39)	T118M	probably damaging	Het
Rb1cc1	A	G	1: 6,314,486 (GRCm39)	K386R	possibly damaging	Het
Rcn2	A	G	9: 55,963,534 (GRCm39)	D221G	probably benign	Het
Rhbdl3	T	G	11: 80,222,687 (GRCm39)	H245Q	probably damaging	Het
Ribc1	T	C	X: 150,788,787 (GRCm39)	E204G	probably damaging	Het
Rpap1	G	A	2: 119,608,601 (GRCm39)	L254F	probably damaging	Het
Rrp12	A	G	19: 41,880,988 (GRCm39)	F148L	possibly damaging	Het
Rusf1	A	T	7: 127,871,803 (GRCm39)		probably null	Het
Setdb1	A	T	3: 95,249,109 (GRCm39)	I333K	probably damaging	Het
Simc1	A	G	13: 54,694,845 (GRCm39)	I1210V	probably benign	Het
Smchd1	T	A	17: 71,686,569 (GRCm39)	D1379V	probably benign	Het
Snap29	A	T	16: 17,240,370 (GRCm39)	K159*	probably null	Het
Spdye4c	A	T	2: 128,436,132 (GRCm39)	K176M	possibly damaging	Het
Stk31	T	A	6: 49,400,419 (GRCm39)	W415R	probably damaging	Het
Supt6	C	T	11: 78,100,321 (GRCm39)	R1497Q	probably damaging	Het
Tenm3	A	G	8: 48,729,191 (GRCm39)	I1605T	possibly damaging	Het
Ttn	T	C	2: 76,676,967 (GRCm39)		probably null	Het
Ttn	A	G	2: 76,728,011 (GRCm39)		probably benign	Het
Ucp3	A	T	7: 100,129,368 (GRCm39)	T68S	probably benign	Het
Ugt2b36	T	C	5: 87,237,336 (GRCm39)	N316D	probably benign	Het
Usp4	T	G	9: 108,244,003 (GRCm39)	S247A	probably benign	Het
Utp20	A	T	10: 88,606,613 (GRCm39)	V1653D	probably benign	Het
Vmn1r183	A	G	7: 23,754,250 (GRCm39)	I18V	probably benign	Het
Vmn1r237	A	G	17: 21,534,885 (GRCm39)	M203V	probably damaging	Het
Vmn1r61	A	T	7: 5,613,998 (GRCm39)	F105L	possibly damaging	Het
Zfp462	T	C	4: 55,011,951 (GRCm39)	C158R	probably damaging	Het
Zfyve16	C	G	13: 92,657,637 (GRCm39)	R758P	probably damaging	Het

Other mutations in Itpkb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- TCTTAAATACCTGGGCACCCCAGC -3'
(R):5'- TTAGAGAGCATGAGAAACGCCACC -3'

Sequencing Primer
(F):5'- TAACCCCGATGTCCTCCAGG -3'
(R):5'- TTCTAGGTAGGCGCTCAGAC -3'

Posted On

2013-07-11