Mutagenetix > Incidental Mutation

Incidental Mutation 'R7107:Itpkc'

551242

Institutional Source

Beutler Lab

Gene Symbol

Itpkc

Ensembl Gene

ENSMUSG00000003752

Gene Name

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

Synonyms

9130023N17Rik

MMRRC Submission

045199-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.361) question?

Stock #

R7107 (G1)

Quality Score

206.009

Status

Validated

Chromosome

Chromosomal Location

26906595-26928042 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 26927702 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 71 (A71S)

Ref Sequence

ENSEMBL: ENSMUSP00000003850 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003850] [ENSMUST00000003860] [ENSMUST00000108378]

AlphaFold

Q7TS72

Predicted Effect

probably benign
Transcript: ENSMUST00000003850
AA Change: A71S

PolyPhen 2 Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000003850
Gene: ENSMUSG00000003752
AA Change: A71S

Domain	Start	End	E-Value	Type
low complexity region	28	59	N/A	INTRINSIC
low complexity region	346	363	N/A	INTRINSIC
Pfam:IPK	462	673	3.7e-42	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000003860

SMART Domains

Protein: ENSMUSP00000003860
Gene: ENSMUSG00000003762

Domain	Start	End	E-Value	Type
low complexity region	93	109	N/A	INTRINSIC
Pfam:ABC1	198	314	4.9e-34	PFAM
low complexity region	348	364	N/A	INTRINSIC
low complexity region	474	483	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108378

SMART Domains

Protein: ENSMUSP00000104015
Gene: ENSMUSG00000003762

Domain	Start	End	E-Value	Type
low complexity region	93	109	N/A	INTRINSIC
Pfam:ABC1	198	314	4.4e-34	PFAM
low complexity region	348	364	N/A	INTRINSIC
low complexity region	474	483	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (78/79)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the inositol 1,4,5-trisphosphate [Ins(1,4,5)P(3)] 3-kinase family of enzymes that catalyze the phosphorylation of inositol 1,4,5-trisphosphate to 1,3,4,5-tetrakisphosphate. The encoded protein is localized to the nucleus and cytoplasm and has both nuclear import and nuclear export activity. Single nucleotide polymorphisms in this gene are associated with Kawasaki disease.[provided by RefSeq, Sep 2009]
PHENOTYPE: No overt phenotype reported. Thymocyte development was normal in homozygous null mice. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	A	G	11: 109,867,299 (GRCm39)	L253S	probably damaging	Het
Adgrv1	T	C	13: 81,726,261 (GRCm39)	E588G	probably benign	Het
Ahcy	G	A	2: 154,910,893 (GRCm39)	A25V	probably damaging	Het
Ank2	A	C	3: 126,797,631 (GRCm39)	L710R	probably damaging	Het
Ap1b1	A	G	11: 4,989,558 (GRCm39)	T824A	probably benign	Het
Arap2	T	A	5: 62,763,551 (GRCm39)	H1531L	probably damaging	Het
Atosb	A	T	4: 43,036,434 (GRCm39)	V99E	probably benign	Het
B3gnt7	T	C	1: 86,233,495 (GRCm39)	L247P	probably damaging	Het
Bcl6b	A	G	11: 70,117,396 (GRCm39)	C409R	probably damaging	Het
Bicdl1	T	C	5: 115,808,229 (GRCm39)	H301R	probably benign	Het
Casc3	T	A	11: 98,718,413 (GRCm39)	I491N	possibly damaging	Het
Ccdc92b	T	A	11: 74,520,887 (GRCm39)	L63Q	probably damaging	Het
Cep250	A	G	2: 155,837,314 (GRCm39)	T2319A	probably benign	Het
Chd1	T	C	17: 15,981,628 (GRCm39)	S1356P	probably damaging	Het
Chd8	A	G	14: 52,450,129 (GRCm39)	S1542P	probably benign	Het
Clec2m	A	G	6: 129,299,915 (GRCm39)	C188R	probably damaging	Het
Cntnap4	A	G	8: 113,542,120 (GRCm39)	D751G	probably damaging	Het
Cpsf4l	G	A	11: 113,593,315 (GRCm39)	R90C	possibly damaging	Het
Defa21	G	A	8: 21,515,724 (GRCm39)	A41T	probably damaging	Het
Dennd4a	G	T	9: 64,801,681 (GRCm39)	L941F	possibly damaging	Het
Dnah12	G	A	14: 26,500,869 (GRCm39)		probably null	Het
Dtx4	A	T	19: 12,450,624 (GRCm39)	C529*	probably null	Het
Entpd3	A	G	9: 120,389,665 (GRCm39)	Y317C	probably damaging	Het
Erp29	T	A	5: 121,583,381 (GRCm39)	I182F	possibly damaging	Het
Fam161a	A	G	11: 22,973,452 (GRCm39)	R445G	possibly damaging	Het
Fam76a	T	A	4: 132,631,232 (GRCm39)	M238L	possibly damaging	Het
Fn1	T	C	1: 71,666,408 (GRCm39)	Y875C	probably damaging	Het
Gnb2	A	G	5: 137,528,444 (GRCm39)		probably null	Het
Hspg2	T	C	4: 137,237,963 (GRCm39)	S229P	probably damaging	Het
Ighv6-6	A	G	12: 114,398,590 (GRCm39)	S59P	probably damaging	Het
Kcnk10	G	A	12: 98,485,002 (GRCm39)	R45*	probably null	Het
Krcc1	A	G	6: 71,261,198 (GRCm39)	S77G	probably benign	Het
Lelp1	G	A	3: 92,042,821 (GRCm39)	T76I	unknown	Het
Lifr	A	T	15: 7,208,421 (GRCm39)	I600F	possibly damaging	Het
Lrrk1	T	A	7: 65,937,191 (GRCm39)	D987V	possibly damaging	Het
Muc16	C	T	9: 18,548,594 (GRCm39)	D5900N	probably benign	Het
Muc6	AGGCGCAGAAACCCTGGC	AGGC	7: 141,214,363 (GRCm39)		probably null	Het
Myo9a	A	G	9: 59,778,098 (GRCm39)	I1285V	probably benign	Het
Ndel1	T	C	11: 68,713,474 (GRCm39)	D321G	possibly damaging	Het
Nlrp4b	T	C	7: 10,449,144 (GRCm39)	V449A	probably damaging	Het
Or10q12	A	G	19: 13,746,525 (GRCm39)	E273G	probably benign	Het
Or2r11	T	C	6: 42,437,488 (GRCm39)	N155S	possibly damaging	Het
Or2y1c	T	A	11: 49,361,261 (GRCm39)	Y94*	probably null	Het
Or51k1	A	T	7: 103,661,489 (GRCm39)	L140Q	probably benign	Het
Or5k3	A	C	16: 58,969,279 (GRCm39)	D22A	probably benign	Het
Osbpl1a	G	A	18: 12,974,310 (GRCm39)	R459*	probably null	Het
Pabpc1l	A	C	2: 163,884,399 (GRCm39)	T379P	probably damaging	Het
Pde2a	A	T	7: 101,071,175 (GRCm39)	Q15L	probably benign	Het
Pdk1	A	G	2: 71,726,085 (GRCm39)	N331S	probably benign	Het
Pfdn1	A	T	18: 36,584,519 (GRCm39)		probably null	Het
Pnliprp1	T	A	19: 58,717,582 (GRCm39)	L9H	probably damaging	Het
Prl7a2	A	T	13: 27,843,076 (GRCm39)	D242E	possibly damaging	Het
Prmt9	T	A	8: 78,294,880 (GRCm39)	I408N	possibly damaging	Het
Psme4	G	A	11: 30,798,105 (GRCm39)	R1366H	probably benign	Het
Pstpip1	A	T	9: 56,035,934 (GRCm39)	D393V	probably damaging	Het
Rab5b	A	G	10: 128,519,062 (GRCm39)		probably null	Het
Rap1gap2	G	A	11: 74,283,945 (GRCm39)	R618C	probably damaging	Het
Rin1	A	G	19: 5,100,801 (GRCm39)		probably benign	Het
Sall3	G	A	18: 81,016,969 (GRCm39)	P320S	probably benign	Het
Sdk1	A	G	5: 142,067,471 (GRCm39)	T1124A	probably damaging	Het
Sirpb1c	T	A	3: 15,892,941 (GRCm39)	T88S	possibly damaging	Het
Slc35f6	T	A	5: 30,814,121 (GRCm39)	I189N	probably damaging	Het
Slc49a3	T	A	5: 108,596,581 (GRCm39)		probably null	Het
Spata31d1e	T	A	13: 59,889,997 (GRCm39)	R608*	probably null	Het
Spsb2	A	T	6: 124,787,244 (GRCm39)	Q226L	probably benign	Het
Stab2	T	C	10: 86,741,456 (GRCm39)	D1221G	possibly damaging	Het
Sugp1	G	A	8: 70,522,800 (GRCm39)	R500H	probably benign	Het
Syne1	A	G	10: 5,082,078 (GRCm39)	Y849H	probably damaging	Het
Tbck	T	A	3: 132,428,092 (GRCm39)	I249N	possibly damaging	Het
Tdrd6	A	C	17: 43,935,095 (GRCm39)	F1984L	probably benign	Het
Tnxb	T	A	17: 34,890,314 (GRCm39)	V219E	unknown	Het
Tpst1	T	A	5: 130,143,344 (GRCm39)	V294D	probably damaging	Het
Treml1	A	G	17: 48,667,247 (GRCm39)	Q44R	probably damaging	Het
Trrap	G	A	5: 144,733,945 (GRCm39)	A933T	probably benign	Het
Vars2	A	G	17: 35,969,142 (GRCm39)	L853P	probably damaging	Het
Vmn1r10	A	T	6: 57,090,615 (GRCm39)	N69I	possibly damaging	Het
Vmn1r179	T	A	7: 23,627,819 (GRCm39)	Y3*	probably null	Het
Vmn2r38	T	A	7: 9,093,728 (GRCm39)	Y498F	probably benign	Het
Zc3h11a	T	C	1: 133,566,655 (GRCm39)	T179A	probably damaging	Het
Zmym2	A	G	14: 57,140,169 (GRCm39)	T3A	probably benign	Het

Other mutations in Itpkc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01751:Itpkc	APN	7	26,912,491 (GRCm39)	unclassified	probably benign
IGL01774:Itpkc	APN	7	26,911,795 (GRCm39)	missense	probably benign	0.05
IGL02134:Itpkc	APN	7	26,927,300 (GRCm39)	nonsense	probably null
IGL02719:Itpkc	APN	7	26,927,475 (GRCm39)	missense	possibly damaging	0.92
R0284:Itpkc	UTSW	7	26,913,968 (GRCm39)	nonsense	probably null
R0364:Itpkc	UTSW	7	26,927,174 (GRCm39)	missense	possibly damaging	0.80
R0403:Itpkc	UTSW	7	26,907,770 (GRCm39)	missense	probably benign	0.01
R1175:Itpkc	UTSW	7	26,927,195 (GRCm39)	missense	probably benign	0.00
R1676:Itpkc	UTSW	7	26,907,706 (GRCm39)	missense	probably damaging	1.00
R1813:Itpkc	UTSW	7	26,907,805 (GRCm39)	missense	probably damaging	1.00
R1896:Itpkc	UTSW	7	26,907,805 (GRCm39)	missense	probably damaging	1.00
R1944:Itpkc	UTSW	7	26,927,084 (GRCm39)	missense	possibly damaging	0.55
R2142:Itpkc	UTSW	7	26,919,075 (GRCm39)	missense	possibly damaging	0.83
R3030:Itpkc	UTSW	7	26,911,733 (GRCm39)	splice site	probably null
R3738:Itpkc	UTSW	7	26,927,029 (GRCm39)	missense	possibly damaging	0.95
R3739:Itpkc	UTSW	7	26,927,029 (GRCm39)	missense	possibly damaging	0.95
R3754:Itpkc	UTSW	7	26,927,857 (GRCm39)	missense	probably damaging	1.00
R3851:Itpkc	UTSW	7	26,927,037 (GRCm39)	missense	probably benign	0.00
R3852:Itpkc	UTSW	7	26,927,037 (GRCm39)	missense	probably benign	0.00
R3916:Itpkc	UTSW	7	26,927,728 (GRCm39)	missense	probably benign	0.09
R3963:Itpkc	UTSW	7	26,926,934 (GRCm39)	missense	probably damaging	1.00
R5770:Itpkc	UTSW	7	26,912,413 (GRCm39)	missense	probably damaging	1.00
R5943:Itpkc	UTSW	7	26,912,404 (GRCm39)	missense	possibly damaging	0.69
R6012:Itpkc	UTSW	7	26,927,490 (GRCm39)	missense	probably damaging	0.98
R6835:Itpkc	UTSW	7	26,927,240 (GRCm39)	missense	probably benign	0.02
R7379:Itpkc	UTSW	7	26,927,194 (GRCm39)	missense	probably benign	0.12
R8305:Itpkc	UTSW	7	26,913,944 (GRCm39)	missense	probably damaging	1.00
R8365:Itpkc	UTSW	7	26,911,777 (GRCm39)	missense	probably damaging	1.00
R9216:Itpkc	UTSW	7	26,927,429 (GRCm39)	missense	probably benign	0.19
R9634:Itpkc	UTSW	7	26,913,880 (GRCm39)	missense	probably benign	0.29
R9764:Itpkc	UTSW	7	26,927,222 (GRCm39)	missense	probably benign	0.00
Z1176:Itpkc	UTSW	7	26,927,063 (GRCm39)	missense	probably benign	0.01
Z1177:Itpkc	UTSW	7	26,927,206 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- ATCTCCATCTCAACCAGGGG -3'
(R):5'- ACCCCTCGTAGGATTTTAAAGG -3'

Sequencing Primer
(F):5'- ATCTCAACCAGGGGGCTGTTC -3'
(R):5'- CCCCTCGTAGGATTTTAAAGGGGAAG -3'

Posted On

2019-05-15