Mutagenetix > Incidental Mutation

Incidental Mutation 'R9652:Itpkb'

735349

Institutional Source

Beutler Lab

Gene Symbol

Itpkb

Ensembl Gene

ENSMUSG00000038855

Gene Name

inositol 1,4,5-trisphosphate 3-kinase B

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.789) question?

Stock #

R9652 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

180330485-180424802 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 180332491 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 61 (E61*)

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 null
Transcript: ENSMUST00000070181
AA Change: E61*

SMART Domains

Protein: ENSMUSP00000069851
Gene: ENSMUSG00000038855
AA Change: E61*

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: 99.9%
3x: 99.8%
10x: 99.6%
20x: 99.1%

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afap1l1	G	A	18: 61,743,361	T395M	probably damaging	Het
Akap8l	T	C	17: 32,338,809	N35D	probably damaging	Het
Atr	T	A	9: 95,874,834	L922Q	probably damaging	Het
B3gnt9	G	T	8: 105,254,497	F86L	probably damaging	Het
Bmp1	T	C	14: 70,477,920	D925G	probably damaging	Het
C77080	T	C	4: 129,224,169	E279G	possibly damaging	Het
Camkmt	A	T	17: 85,452,285	R284S	probably benign	Het
Cavin3	G	T	7: 105,482,097	H21Q	probably damaging	Het
Ccp110	A	G	7: 118,735,330	H180R		Het
Cdh23	A	T	10: 60,331,356	V1837E	probably damaging	Het
Ces3b	G	T	8: 105,085,625	A169S	probably damaging	Het
Chpt1	T	C	10: 88,489,637	N122S	probably benign	Het
Cramp1l	C	A	17: 24,982,809	K566N	probably damaging	Het
Ctbp2	C	G	7: 133,014,204	R334P	probably damaging	Het
Cwh43	T	C	5: 73,414,997	S193P	probably benign	Het
Dcstamp	A	T	15: 39,760,396	D469V	probably benign	Het
Dst	T	A	1: 34,180,377	I1966N	probably benign	Het
Eif3i	G	T	4: 129,595,301	F121L	probably benign	Het
Erbb2	T	C	11: 98,435,986	S1074P	probably damaging	Het
Fam186b	G	A	15: 99,279,735	A570V	probably damaging	Het
Fbn2	A	G	18: 58,013,650		probably null	Het
Foxo3	C	T	10: 42,197,025	V499M	probably damaging	Het
Gm2a	T	C	11: 55,108,938	V95A	probably benign	Het
Gp5	A	C	16: 30,309,575	F94V	probably damaging	Het
Gramd4	G	A	15: 86,131,959	E504K	probably damaging	Het
Gusb	A	G	5: 129,997,811	S450P	probably damaging	Het
Htr5a	A	G	5: 27,842,840	N131S	possibly damaging	Het
Itga2	G	A	13: 114,884,455	P120L	probably benign	Het
Katnbl1	T	A	2: 112,409,152	V232D	probably damaging	Het
Kifap3	T	C	1: 163,862,088	L547P	probably damaging	Het
Krt6a	C	T	15: 101,690,685	V482M	probably benign	Het
Lrfn5	T	A	12: 61,843,632	V569D	probably damaging	Het
Luzp2	A	G	7: 55,052,832	T48A	probably damaging	Het
Mical2	G	T	7: 112,346,789	R986L	probably damaging	Het
Mroh8	G	A	2: 157,253,050	Q339*	probably null	Het
Msln	A	T	17: 25,749,068	V541E	probably damaging	Het
Muc16	T	A	9: 18,586,882	M6590L	probably benign	Het
Nisch	A	T	14: 31,171,671	V1315E	probably damaging	Het
Nubp2	G	A	17: 24,884,408	T165I	probably damaging	Het
Olfr1089	A	T	2: 86,733,292	F107I	probably damaging	Het
Olfr13	A	G	6: 43,174,057	M24V	probably benign	Het
Olfr57	T	C	10: 79,035,396	I200T	probably benign	Het
Olfr682-ps1	A	T	7: 105,126,778	N164K	probably benign	Het
Olfr820	T	C	10: 130,017,940	I193T	possibly damaging	Het
Oog3	T	G	4: 144,157,919	R482S	probably benign	Het
P3h4	A	T	11: 100,413,673	C247*	probably null	Het
Palm2	G	A	4: 57,710,125	A357T	possibly damaging	Het
Plch2	T	A	4: 154,998,485	M569L	probably benign	Het
Plcl1	A	G	1: 55,696,291	T264A	probably benign	Het
Rad51ap1	G	T	6: 126,927,563	N178K	probably benign	Het
Rasa4	T	C	5: 136,101,640	L340P	probably damaging	Het
Rassf10	A	G	7: 112,955,577	T462A	probably benign	Het
Rlf	G	C	4: 121,150,668	L482V	probably damaging	Het
Robo1	T	G	16: 73,024,442	S1357A	possibly damaging	Het
Rp1l1	T	C	14: 64,032,265	S1767P	probably damaging	Het
Rpl3l	T	A	17: 24,728,354	L14Q	probably damaging	Het
Ryr3	T	A	2: 112,804,702	T2024S	possibly damaging	Het
Sbf2	T	C	7: 110,441,495	Q375R	possibly damaging	Het
Sema6a	T	C	18: 47,249,185	Q765R	probably damaging	Het
Senp6	T	A	9: 80,113,946	Y303N	probably damaging	Het
Sertad4	C	T	1: 192,846,528	D327N	probably damaging	Het
Slc22a15	T	A	3: 101,883,532	Y219F	possibly damaging	Het
Slco1b2	T	G	6: 141,648,632		probably null	Het
Snrnp200	G	T	2: 127,226,039	V819L	probably damaging	Het
Ssb	C	A	2: 69,870,440	A288E	probably damaging	Het
Syne2	A	G	12: 76,054,846	H638R	probably benign	Het
Tm7sf3	A	G	6: 146,626,200	S43P	probably benign	Het
Tmem200c	A	G	17: 68,842,186	H588R	probably benign	Het
Tnpo3	G	A	6: 29,560,174	R657*	probably null	Het
Traf6	T	C	2: 101,688,582	C139R	probably damaging	Het
Txnrd1	C	A	10: 82,884,556	N424K	possibly damaging	Het
Ubqln3	T	C	7: 104,142,755	I43V	probably damaging	Het
Usp32	A	G	11: 85,030,491	V699A	probably damaging	Het
Vmn2r103	T	C	17: 19,793,765	V273A	probably benign	Het
Vmn2r8	A	G	5: 108,803,241	S113P	probably benign	Het
Wdr7	T	A	18: 63,727,755	I161N	probably damaging	Het
Zfp474	A	T	18: 52,638,943	I223F	probably damaging	Het
Zfp583	A	G	7: 6,317,329	L228P	probably damaging	Het
Zfyve27	A	G	19: 42,177,417	T76A	possibly damaging	Het

Other mutations in Itpkb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00899:Itpkb	APN	1	180332993	missense	probably benign
IGL01733:Itpkb	APN	1	180333169	missense	possibly damaging	0.50
IGL01812:Itpkb	APN	1	180420286	missense	probably damaging	1.00
IGL01965:Itpkb	APN	1	180332405	missense	probably damaging	1.00
IGL02447:Itpkb	APN	1	180421354	splice site	probably benign
IGL03143:Itpkb	APN	1	180333368	missense	probably benign
IGL03228:Itpkb	APN	1	180413999	missense	probably damaging	1.00
lahar	UTSW	1	180327225	unclassified	probably benign
magma	UTSW	1	180413975	missense	probably damaging	1.00
Purpura	UTSW	1	180334096	missense	probably damaging	1.00
Pyroclastic	UTSW	1	180334253	intron	probably benign
volcano	UTSW	1	180421315	missense	probably damaging	1.00
IGL02991:Itpkb	UTSW	1	180327714	unclassified	probably benign
R0071:Itpkb	UTSW	1	180332765	missense	probably damaging	1.00
R0471:Itpkb	UTSW	1	180418255	missense	probably damaging	0.98
R0616:Itpkb	UTSW	1	180421736	missense	probably damaging	1.00
R1567:Itpkb	UTSW	1	180421858	missense	probably benign	0.00
R2060:Itpkb	UTSW	1	180421858	missense	probably benign	0.00
R2474:Itpkb	UTSW	1	180334151	missense	probably damaging	1.00
R3022:Itpkb	UTSW	1	180418323	missense	probably damaging	0.96
R3792:Itpkb	UTSW	1	180333173	missense	possibly damaging	0.81
R3831:Itpkb	UTSW	1	180333695	missense	probably benign	0.00
R3833:Itpkb	UTSW	1	180333695	missense	probably benign	0.00
R3967:Itpkb	UTSW	1	180327798	unclassified	probably benign
R3968:Itpkb	UTSW	1	180327798	unclassified	probably benign
R4735:Itpkb	UTSW	1	180418215	missense	probably damaging	1.00
R4774:Itpkb	UTSW	1	180418194	missense	probably damaging	1.00
R4807:Itpkb	UTSW	1	180334875	intron	probably benign
R4895:Itpkb	UTSW	1	180413895	missense	probably damaging	1.00
R5514:Itpkb	UTSW	1	180413909	missense	probably damaging	1.00
R5593:Itpkb	UTSW	1	180334096	missense	probably damaging	1.00
R5633:Itpkb	UTSW	1	180327225	unclassified	probably benign
R5772:Itpkb	UTSW	1	180334253	intron	probably benign
R5898:Itpkb	UTSW	1	180421315	missense	probably damaging	1.00
R5903:Itpkb	UTSW	1	180413975	missense	probably damaging	1.00
R7060:Itpkb	UTSW	1	180333130	missense	probably damaging	1.00
R7689:Itpkb	UTSW	1	180413979	missense	probably damaging	1.00
R7816:Itpkb	UTSW	1	180413889	missense	probably damaging	1.00
R8001:Itpkb	UTSW	1	180332494	missense	probably damaging	1.00
R8155:Itpkb	UTSW	1	180332348	missense	possibly damaging	0.86
R8354:Itpkb	UTSW	1	180333343	missense	possibly damaging	0.90
R8690:Itpkb	UTSW	1	180421781	missense	probably benign	0.05
R8870:Itpkb	UTSW	1	180332179	start gained	probably benign
R9168:Itpkb	UTSW	1	180332463	missense	probably benign	0.01
R9203:Itpkb	UTSW	1	180333439	missense	probably benign
R9531:Itpkb	UTSW	1	180333809	missense	probably benign	0.19
R9651:Itpkb	UTSW	1	180332491	nonsense	probably null
R9653:Itpkb	UTSW	1	180332491	nonsense	probably null
R9757:Itpkb	UTSW	1	180332807	missense	probably benign	0.03
R9762:Itpkb	UTSW	1	180334187	missense	probably benign	0.23
RF008:Itpkb	UTSW	1	180333322	missense	probably damaging	0.99
RF017:Itpkb	UTSW	1	180333322	missense	probably damaging	0.99
RF018:Itpkb	UTSW	1	180333322	missense	probably damaging	0.99
X0066:Itpkb	UTSW	1	180421780	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ACTGCTATGCCCTCAATAGCC -3'
(R):5'- AGAATCCGCAGCTTCCTCTG -3'

Sequencing Primer
(F):5'- CTCAATAGCCTGGTGATCATGAACAG -3'
(R):5'- GCAGCTTCCTCTGGGCCTC -3'

Posted On

2022-11-14