Mutagenetix > Incidental Mutation

Incidental Mutation 'R1175:Itpkc'

99940

Institutional Source

Beutler Lab

Gene Symbol

Itpkc

Ensembl Gene

ENSMUSG00000003752

Gene Name

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

Synonyms

MMRRC Submission

039248-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.443) question?

Stock #

R1175 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

27207172-27228661 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 27227770 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 240 (I240V)

Ref Sequence

ENSEMBL: ENSMUSP00000003850 (fasta)

Gene Model

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

AlphaFold

Q7TS72

Predicted Effect

probably benign
Transcript: ENSMUST00000003850
AA Change: I240V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000003850
Gene: ENSMUSG00000003752
AA Change: I240V

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.9%
3x: 97.8%
10x: 94.7%
20x: 88.0%

Validation Efficiency

100% (74/74)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610318N02Rik	T	A	16: 17,117,582	H214L	probably benign	Het
3110043O21Rik	C	A	4: 35,218,630	E76D	probably damaging	Het
4921507P07Rik	T	A	6: 50,589,141	K118M	probably damaging	Het
A430078G23Rik	T	A	8: 3,389,023		probably benign	Het
Abca17	T	C	17: 24,289,351	E1070G	possibly damaging	Het
Accsl	A	T	2: 93,866,244		probably benign	Het
Akp3	G	A	1: 87,127,871	G547R	unknown	Het
Anapc1	C	A	2: 128,680,188	C150F	probably damaging	Het
Borcs5	T	A	6: 134,710,133	N150K	probably damaging	Het
Cdh7	G	A	1: 110,061,132	V255I	probably benign	Het
Cntnap5c	C	A	17: 58,364,246	T1143K	possibly damaging	Het
Col7a1	A	C	9: 108,955,334	T137P	unknown	Het
Defb8	C	T	8: 19,445,894	G50E	probably damaging	Het
Dimt1	T	A	13: 106,949,685		probably benign	Het
Dnajb11	T	A	16: 22,870,673	D281E	probably damaging	Het
Eci2	G	T	13: 34,993,104	N24K	probably damaging	Het
Fbn1	A	T	2: 125,394,687	C358S	probably benign	Het
Fbxl13	A	T	5: 21,620,604		probably benign	Het
Fbxw11	T	C	11: 32,711,922	C121R	probably damaging	Het
Fsd2	T	C	7: 81,559,770	D108G	probably benign	Het
Gab1	C	A	8: 80,784,842	R458L	probably damaging	Het
Ghrhr	T	A	6: 55,388,269	L416*	probably null	Het
Glipr1l2	C	A	10: 112,083,466	L31I	possibly damaging	Het
Gm1818	A	G	12: 48,556,199		noncoding transcript	Het
Gm19965	T	A	1: 116,820,820		probably benign	Het
Gpr149	A	G	3: 62,604,467	L37P	probably damaging	Het
Hoxa9	A	G	6: 52,225,713	I131T	probably damaging	Het
Jakmip3	A	G	7: 139,027,786	D552G	probably damaging	Het
Kank4	T	C	4: 98,765,569	Y874C	probably damaging	Het
Kdm3a	T	C	6: 71,600,027	E768G	possibly damaging	Het
Klf6	A	G	13: 5,861,712	D25G	probably benign	Het
Lamc1	T	C	1: 153,247,231		probably benign	Het
Laptm4a	T	C	12: 8,936,716	V258A	probably damaging	Het
Map3k19	A	G	1: 127,823,880	V578A	probably benign	Het
Mast1	T	C	8: 84,925,327	E342G	probably benign	Het
Mgat5b	T	C	11: 116,977,796	L515P	probably damaging	Het
Mink1	A	G	11: 70,611,340	D985G	probably benign	Het
Mphosph9	A	G	5: 124,315,676	V191A	possibly damaging	Het
Muc6	C	T	7: 141,648,101	G708S	probably damaging	Het
Papd5	T	A	8: 88,252,007	F445L	probably damaging	Het
Pcnt	A	T	10: 76,393,044		probably null	Het
Psmd8	A	T	7: 29,176,173	Y174N	probably damaging	Het
Ptgdr2	C	A	19: 10,940,928	R270S	possibly damaging	Het
Rasal2	A	G	1: 157,147,648	M1172T	probably damaging	Het
Rif1	A	G	2: 52,107,628		probably benign	Het
Rnf123	C	T	9: 108,077,373	R48H	probably benign	Het
Rsrc1	T	C	3: 67,356,218		probably benign	Het
Rxfp2	T	C	5: 150,051,556	V210A	probably benign	Het
Serpinb9d	C	T	13: 33,200,625	P195L	probably benign	Het
Sis	A	G	3: 72,958,104		probably benign	Het
Skint4	T	C	4: 112,124,596	M246T	probably benign	Het
Snrnp200	C	A	2: 127,229,077	R1093S	probably damaging	Het
Sp100	A	G	1: 85,701,420	N471D	possibly damaging	Het
Ssxb8	T	G	X: 8,689,823	H88P	probably damaging	Het
Sufu	T	C	19: 46,401,264		probably null	Het
Svs1	C	A	6: 48,990,239	P707H	probably damaging	Het
Synpo2l	G	A	14: 20,668,167	T10I	possibly damaging	Het
Tdo2	A	T	3: 81,974,376	S40R	probably damaging	Het
Terb1	G	A	8: 104,484,306	T363I	probably benign	Het
Timd4	C	T	11: 46,817,671	P175S	probably damaging	Het
Tlr3	C	A	8: 45,397,134	V833L	probably damaging	Het
Tpst2	T	A	5: 112,308,045	M150K	probably damaging	Het
Trim67	T	A	8: 124,817,035	V378E	probably damaging	Het
Tyrp1	C	T	4: 80,844,868	Q331*	probably null	Het
Ubap2l	A	T	3: 90,023,500	S413T	probably benign	Het
Uimc1	G	A	13: 55,028,602	T701I	possibly damaging	Het
Vangl2	G	T	1: 172,004,786	T501N	probably damaging	Het
Vmn1r60	A	G	7: 5,544,622	S160P	probably benign	Het
Vmn2r66	G	T	7: 85,005,591	D503E	probably benign	Het
Vmn2r72	T	A	7: 85,751,944	E89V	probably damaging	Het
Zfp457	G	A	13: 67,293,684	P180S	probably damaging	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
IGL02134:Itpkc	APN	7	27227875	nonsense	probably null
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
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
R9216:Itpkc	UTSW	7	27228004	missense	probably benign	0.19
R9634:Itpkc	UTSW	7	27214455	missense	probably benign	0.29
R9764:Itpkc	UTSW	7	27227797	missense	probably benign	0.00
Z1176:Itpkc	UTSW	7	27227638	missense	probably benign	0.01
Z1177:Itpkc	UTSW	7	27227781	frame shift	probably null

Predicted Primers

Posted On

2014-01-15