Mutagenetix > Incidental Mutation

Incidental Mutation 'R5770:Itpkc'

446488

Institutional Source

Beutler Lab

Gene Symbol

Itpkc

Ensembl Gene

ENSMUSG00000003752

Gene Name

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

Synonyms

MMRRC Submission

043370-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R5770 (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 27212988 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 578 (D578G)

Ref Sequence

ENSEMBL: ENSMUSP00000003850 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003850] [ENSMUST00000108379]

AlphaFold

Q7TS72

Predicted Effect

probably damaging
Transcript: ENSMUST00000003850
AA Change: D578G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000003850
Gene: ENSMUSG00000003752
AA Change: D578G

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: ENSMUST00000108379

SMART Domains

Protein: ENSMUSP00000104016
Gene: ENSMUSG00000078786

Domain	Start	End	E-Value	Type
low complexity region	26	42	N/A	INTRINSIC
low complexity region	50	80	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147170

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149067

Meta Mutation Damage Score

0.2284

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 95.9%

Validation Efficiency

93% (64/69)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030C10Rik	T	C	12: 20,815,459		noncoding transcript	Het
Abhd8	A	G	8: 71,457,328	V392A	probably benign	Het
AI481877	T	C	4: 59,092,466	I238M	probably benign	Het
Alpk3	A	G	7: 81,078,562	E480G	probably benign	Het
Ankfy1	C	G	11: 72,760,256	H1011D	probably damaging	Het
Aoc3	T	G	11: 101,331,752	Y271*	probably null	Het
Bcl9	T	C	3: 97,215,175	I103V	probably benign	Het
Cgnl1	C	T	9: 71,645,487		probably null	Het
Cyp2c23	T	A	19: 44,021,579	D109V	probably damaging	Het
Cyp2j13	A	T	4: 96,077,432	W13R	probably benign	Het
D630003M21Rik	T	C	2: 158,195,580		probably benign	Het
Desi2	A	T	1: 178,256,495		probably benign	Het
Dll3	T	C	7: 28,299,009	E177G	possibly damaging	Het
Ern2	C	T	7: 122,179,907	G238D	possibly damaging	Het
Gm11595	G	A	11: 99,772,555	R100C	unknown	Het
Gm6133	A	G	18: 78,350,249	K153E	probably benign	Het
Gpr68	A	T	12: 100,878,821	Y155N	probably benign	Het
Hcrtr2	T	A	9: 76,259,666	I130F	probably damaging	Het
Hk1	T	C	10: 62,286,449	K489R	probably benign	Het
Ints13	T	C	6: 146,555,073	N425S	probably damaging	Het
Kcns3	A	G	12: 11,092,249	S150P	probably benign	Het
Khdrbs3	T	A	15: 69,049,463		probably null	Het
Kif11	A	G	19: 37,390,865	I335V	probably benign	Het
Lrrn4	C	G	2: 132,872,156	C290S	probably damaging	Het
Macrod2	T	C	2: 141,232,182		probably benign	Het
Mgam	A	G	6: 40,669,804	N688S	probably benign	Het
Myh8	G	A	11: 67,297,200	E933K	probably damaging	Het
Nat8f5	T	C	6: 85,817,675	Y101C	probably damaging	Het
Nhlrc1	A	G	13: 47,014,712	V23A	probably benign	Het
Nkx2-3	T	A	19: 43,614,533	F193I	probably damaging	Het
Nlrp4b	T	A	7: 10,715,487	V172E	probably benign	Het
Nmrk1	G	T	19: 18,645,074	R172S	probably benign	Het
Nudcd3	T	C	11: 6,113,286	D201G	probably damaging	Het
Olfr1255	T	A	2: 89,816,549	D68E	probably damaging	Het
Olfr1384	A	G	11: 49,514,592	E318G	unknown	Het
Olfr205	A	T	16: 59,329,151	Y119*	probably null	Het
Olfr314	G	A	11: 58,786,594	R120H	probably benign	Het
Olfr46	A	G	7: 140,610,943	Y259C	probably damaging	Het
Olfr679	A	T	7: 105,090,895	I248N	probably damaging	Het
Olfr980	C	T	9: 40,006,338	V204I	probably benign	Het
Oprm1	G	A	10: 6,789,026	G51D	probably damaging	Het
Pcdh15	T	A	10: 74,185,345	Y130*	probably null	Het
Pcdh9	G	A	14: 93,886,943	T597I	probably damaging	Het
Pcdhb19	A	G	18: 37,498,037	N295S	possibly damaging	Het
Pcnx3	T	C	19: 5,681,579		probably benign	Het
Pdzph1	A	T	17: 58,879,151	I1215N	probably damaging	Het
Phf21a	C	T	2: 92,351,854	T405I	possibly damaging	Het
Pkd1l2	C	A	8: 117,055,018	G763W	probably damaging	Het
Prox2	A	G	12: 85,087,380	F591L	probably benign	Het
Robo3	T	A	9: 37,419,201	H1033L	possibly damaging	Het
Sdha	A	T	13: 74,323,120	C222*	probably null	Het
Sec16a	T	C	2: 26,414,390	D2303G	probably damaging	Het
Slc16a5	A	G	11: 115,472,778	K422E	possibly damaging	Het
Slc22a30	A	T	19: 8,386,527	M232K	probably damaging	Het
Slc35b3	A	T	13: 38,937,758	F300I	probably damaging	Het
Spata2l	A	G	8: 123,235,720	V34A	probably damaging	Het
Susd2	C	T	10: 75,638,019	A581T	probably damaging	Het
Tecta	T	A	9: 42,345,589	Q1597L	possibly damaging	Het
Tgfb1i1	A	T	7: 128,248,547		probably benign	Het
Ticam1	TCACACA	TCACA	17: 56,270,629		probably null	Het
Tpm3-rs7	A	G	14: 113,315,375	T234A	probably benign	Het
Usp20	A	G	2: 31,017,508	Y684C	probably damaging	Het
Zc3h4	T	A	7: 16,429,611	M585K	unknown	Het
Zfp292	A	G	4: 34,806,747	I2099T	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
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
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

PCR Primer
(F):5'- TTCTTAGCCAAGCCACCAGC -3'
(R):5'- TCGTTAGTTGTGGAAGGACAGC -3'

Sequencing Primer
(F):5'- CAGCTGATGGCAGACTGTG -3'
(R):5'- TTGTGGAAGGACAGCTTAGG -3'

Posted On

2016-11-21