Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02134:Itpkc'

281236

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Itpkc

Ensembl Gene

ENSMUSG00000003752

Gene Name

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

Synonyms

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.464) question?

Stock #

IGL02134

Quality Score

Status

Chromosome

Chromosomal Location

27207172-27228661 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 27227875 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 205 (Q205*)

Ref Sequence

ENSEMBL: ENSMUSP00000003850 (fasta)

Gene Model

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

Predicted Effect

probably null
Transcript: ENSMUST00000003850
AA Change: Q205*

SMART Domains

Protein: ENSMUSP00000003850
Gene: ENSMUSG00000003752
AA Change: Q205*

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

noncoding transcript
Transcript: ENSMUST00000206441

Coding Region Coverage

Validation Efficiency

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf4	T	C	17: 42,669,690	N168S	probably damaging	Het
Angptl3	A	T	4: 99,031,112	R36S	probably damaging	Het
Ap5z1	T	C	5: 142,474,459	F514L	probably benign	Het
Arhgef39	C	A	4: 43,497,578		probably null	Het
Aste1	A	G	9: 105,397,844	S11G	probably damaging	Het
Cadm4	T	C	7: 24,499,561	V87A	probably benign	Het
Cd177	A	G	7: 24,752,352	I413T	probably benign	Het
Col5a2	A	G	1: 45,391,070		probably null	Het
Dera	C	T	6: 137,830,271	A239V	probably damaging	Het
Ecm1	T	C	3: 95,736,187	E283G	probably damaging	Het
Eml6	G	T	11: 29,759,066	H24N	probably benign	Het
Etl4	A	G	2: 20,806,429	K1425E	possibly damaging	Het
Fgd3	G	A	13: 49,296,749	S8L	possibly damaging	Het
Gli1	T	C	10: 127,336,500	E228G	probably benign	Het
Hivep3	A	G	4: 120,133,574		probably benign	Het
Iqcc	A	G	4: 129,619,025	S11P	probably damaging	Het
Jmjd1c	T	A	10: 67,220,392	S530R	possibly damaging	Het
Kcnq1	A	G	7: 143,183,716	H257R	possibly damaging	Het
Kcnt2	G	A	1: 140,376,383	V164I	probably benign	Het
Lgr5	T	C	10: 115,452,858	H603R	possibly damaging	Het
Lrp2	T	C	2: 69,513,379		probably null	Het
Lrrn2	A	G	1: 132,937,817	M207V	possibly damaging	Het
Miip	A	G	4: 147,865,278		probably benign	Het
Mrps35	T	C	6: 147,048,310		probably benign	Het
Nuf2	A	T	1: 169,513,500	M184K	probably benign	Het
Olfr113	C	T	17: 37,575,358	E22K	probably benign	Het
Olfr1234	A	T	2: 89,362,828	N200K	probably damaging	Het
Olfr1494	C	A	19: 13,749,801	R232S	probably benign	Het
Olfr452	A	G	6: 42,790,464	T142A	probably benign	Het
Olfr951	A	T	9: 39,394,534	I248F	probably damaging	Het
Os9	T	C	10: 127,120,992	I42V	possibly damaging	Het
Rapgef4	A	C	2: 72,180,061	Q177P	probably damaging	Het
Rhpn2	T	C	7: 35,371,111		probably benign	Het
Scn5a	T	C	9: 119,485,892	R1916G	probably damaging	Het
Serpine1	T	A	5: 137,067,035		probably benign	Het
Snd1	C	T	6: 28,880,279	P684L	possibly damaging	Het
Tgds	T	C	14: 118,113,122	N340D	probably benign	Het
Trpc4	A	T	3: 54,315,654	Y706F	possibly damaging	Het
Ttn	T	A	2: 76,753,822	D22314V	probably damaging	Het
Utrn	G	A	10: 12,643,419	T2263I	probably damaging	Het
Vmn1r11	A	T	6: 57,138,037	T229S	possibly damaging	Het
Zfp142	T	G	1: 74,569,863	H1488P	probably damaging	Het
Zfp219	A	G	14: 52,009,301	L78P	probably damaging	Het
Zfp629	T	A	7: 127,611,870	T256S	probably benign	Het

Other mutations in Itpkc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01751:Itpkc	APN	7	27213066	unclassified	probably benign
IGL01774:Itpkc	APN	7	27212370	missense	probably benign	0.05
IGL02719:Itpkc	APN	7	27228050	missense	possibly damaging	0.92
R0284:Itpkc	UTSW	7	27214543	nonsense	probably null
R0364:Itpkc	UTSW	7	27227749	missense	possibly damaging	0.80
R0403:Itpkc	UTSW	7	27208345	missense	probably benign	0.01
R1175:Itpkc	UTSW	7	27227770	missense	probably benign	0.00
R1676:Itpkc	UTSW	7	27208281	missense	probably damaging	1.00
R1813:Itpkc	UTSW	7	27208380	missense	probably damaging	1.00
R1896:Itpkc	UTSW	7	27208380	missense	probably damaging	1.00
R1944:Itpkc	UTSW	7	27227659	missense	possibly damaging	0.55
R2142:Itpkc	UTSW	7	27219650	missense	possibly damaging	0.83
R3030:Itpkc	UTSW	7	27212308	splice site	probably null
R3738:Itpkc	UTSW	7	27227604	missense	possibly damaging	0.95
R3739:Itpkc	UTSW	7	27227604	missense	possibly damaging	0.95
R3754:Itpkc	UTSW	7	27228432	missense	probably damaging	1.00
R3851:Itpkc	UTSW	7	27227612	missense	probably benign	0.00
R3852:Itpkc	UTSW	7	27227612	missense	probably benign	0.00
R3916:Itpkc	UTSW	7	27228303	missense	probably benign	0.09
R3963:Itpkc	UTSW	7	27227509	missense	probably damaging	1.00
R5770:Itpkc	UTSW	7	27212988	missense	probably damaging	1.00
R5943:Itpkc	UTSW	7	27212979	missense	possibly damaging	0.69
R6012:Itpkc	UTSW	7	27228065	missense	probably damaging	0.98
R6835:Itpkc	UTSW	7	27227815	missense	probably benign	0.02
R7107:Itpkc	UTSW	7	27228277	missense	probably benign	0.15
R7379:Itpkc	UTSW	7	27227769	missense	probably benign	0.12
R8305:Itpkc	UTSW	7	27214519	missense	probably damaging	1.00
R8365:Itpkc	UTSW	7	27212352	missense	probably damaging	1.00
Z1176:Itpkc	UTSW	7	27227638	missense	probably benign	0.01
Z1177:Itpkc	UTSW	7	27227781	frame shift	probably null

Posted On

2015-04-16