Mutagenetix > Incidental Mutation

Incidental Mutation 'R3806:Ip6k3'

274627

Institutional Source

Beutler Lab

Gene Symbol

Ip6k3

Ensembl Gene

ENSMUSG00000024210

Gene Name

inositol hexaphosphate kinase 3

Synonyms

Ihpk3, D830007E07Rik

MMRRC Submission

040763-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.124) question?

Stock #

R3806 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

27362945-27386738 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 27363974 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 358 (H358R)

Ref Sequence

ENSEMBL: ENSMUSP00000025046 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025046]

AlphaFold

Q8BWD2

Predicted Effect

probably damaging
Transcript: ENSMUST00000025046
AA Change: H358R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000025046
Gene: ENSMUSG00000024210
AA Change: H358R

Domain	Start	End	E-Value	Type
Pfam:IPK	193	390	3e-68	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the inositol phosphokinase (IPK) family. This protein is likely responsible for the conversion of inositol hexakisphosphate (InsP6) to diphosphoinositol pentakisphosphate (InsP7/PP-InsP5). It may also convert 1,3,4,5,6-pentakisphosphate (InsP5) to PP-InsP4. Alternative splicing results in multiple transcript variants encoding the same protein.[provided by RefSeq, Dec 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit altered cerebellar Purkinje cell morphology, reduced synapse number, and defects in motor learning and coordination. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	G	T	11: 109,684,980 (GRCm39)	C172*	probably null	Het
Akap9	A	G	5: 4,004,410 (GRCm39)	N108S	probably benign	Het
Ankmy1	A	G	1: 92,811,480 (GRCm39)	I636T	possibly damaging	Het
Bbs9	T	A	9: 22,798,926 (GRCm39)	D851E	probably damaging	Het
Bicd1	T	A	6: 149,420,489 (GRCm39)	L780M	probably damaging	Het
Ccdc175	T	C	12: 72,227,598 (GRCm39)	T62A	possibly damaging	Het
Cfhr4	T	A	1: 139,680,773 (GRCm39)	K248N	probably damaging	Het
Clcnka	T	C	4: 141,114,601 (GRCm39)	E615G	probably null	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Cpxm2	C	T	7: 131,681,820 (GRCm39)	M236I	probably benign	Het
Dhrs2	A	T	14: 55,472,205 (GRCm39)	N32I	probably benign	Het
Fam131a	G	A	16: 20,514,608 (GRCm39)	V70M	probably benign	Het
Fat3	G	A	9: 15,909,567 (GRCm39)	S2145F	probably damaging	Het
Fbxl15	G	C	19: 46,317,891 (GRCm39)	R191P	possibly damaging	Het
Fcrlb	T	C	1: 170,735,183 (GRCm39)	T315A	probably benign	Het
Fer1l4	C	T	2: 155,887,603 (GRCm39)	G531D	probably damaging	Het
Gem	C	T	4: 11,705,965 (GRCm39)	Q18*	probably null	Het
Hemk1	T	A	9: 107,214,229 (GRCm39)	I68F	probably damaging	Het
Herc3	C	A	6: 58,893,835 (GRCm39)	H970Q	probably damaging	Het
Ighv5-17	C	A	12: 113,822,918 (GRCm39)	A68S	probably benign	Het
Itpr2	T	C	6: 146,133,789 (GRCm39)		probably null	Het
Kmt2a	C	T	9: 44,731,653 (GRCm39)		probably benign	Het
Krt16	G	T	11: 100,139,566 (GRCm39)	R51S	unknown	Het
Lamtor1	G	A	7: 101,560,552 (GRCm39)	V156I	probably damaging	Het
Lingo4	A	G	3: 94,309,407 (GRCm39)	D115G	probably damaging	Het
Lrrc7	T	C	3: 157,891,130 (GRCm39)	I346V	probably benign	Het
Maco1	C	T	4: 134,557,891 (GRCm39)	M207I	probably benign	Het
Man1c1	A	T	4: 134,430,662 (GRCm39)	L40Q	probably damaging	Het
Mgat4c	A	G	10: 102,224,221 (GRCm39)	N145S	probably benign	Het
Morf4l1	A	G	9: 89,977,196 (GRCm39)	S203P	probably benign	Het
Muc5ac	T	C	7: 141,367,471 (GRCm39)	I2964T	possibly damaging	Het
Naip2	T	A	13: 100,289,142 (GRCm39)	Q1196L	possibly damaging	Het
Nbas	G	A	12: 13,532,505 (GRCm39)	G1738S	probably damaging	Het
Nlrp5	A	G	7: 23,104,271 (GRCm39)	E44G	probably benign	Het
Nolc1	CCAGCAGCAGCAGCAGCAGCAGCAGC	CCAGCAGCAGCAGCAGCAGCAGCAGCAGC	19: 46,069,791 (GRCm39)		probably benign	Het
Or4ac1-ps1	A	T	2: 88,370,700 (GRCm39)		noncoding transcript	Het
Or5d18	A	G	2: 87,864,911 (GRCm39)	S191P	possibly damaging	Het
Otof	T	A	5: 30,543,843 (GRCm39)		probably null	Het
Pcdha2	G	A	18: 37,072,582 (GRCm39)	R71H	probably benign	Het
Pcdha2	G	T	18: 37,074,744 (GRCm39)	E792*	probably null	Het
Pcnx1	A	G	12: 81,996,911 (GRCm39)	T936A	possibly damaging	Het
Pofut2	T	C	10: 77,096,640 (GRCm39)	Y122H	probably damaging	Het
Psg16	A	G	7: 16,824,609 (GRCm39)	E131G	probably benign	Het
Psmd12	T	G	11: 107,386,591 (GRCm39)	D387E	probably benign	Het
Rab6a	A	G	7: 100,257,431 (GRCm39)	M1V	probably null	Het
Ripk3	T	C	14: 56,023,725 (GRCm39)	R29G	probably benign	Het
Robo4	A	T	9: 37,315,734 (GRCm39)	D329V	possibly damaging	Het
Ruvbl2	A	G	7: 45,071,614 (GRCm39)	V423A	possibly damaging	Het
Rxylt1	A	T	10: 121,917,514 (GRCm39)	V333E	possibly damaging	Het
Scgb2b18	T	G	7: 32,872,563 (GRCm39)	M81L	probably benign	Het
Slc24a2	A	T	4: 87,146,021 (GRCm39)	L11H	possibly damaging	Het
Slc4a1	T	C	11: 102,248,019 (GRCm39)	E325G	probably benign	Het
Syt16	A	G	12: 74,276,172 (GRCm39)	E212G	possibly damaging	Het
Them6	A	G	15: 74,593,367 (GRCm39)	D75G	probably damaging	Het
Tnrc18	G	A	5: 142,773,029 (GRCm39)	A417V	unknown	Het
Vmn2r115	ATCTTCT	ATCT	17: 23,578,962 (GRCm39)		probably benign	Het
Zbtb22	C	T	17: 34,135,920 (GRCm39)		probably benign	Het
Zfp235	A	G	7: 23,840,046 (GRCm39)	D225G	probably benign	Het

Other mutations in Ip6k3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01584:Ip6k3	APN	17	27,370,034 (GRCm39)	missense	probably benign
R0200:Ip6k3	UTSW	17	27,363,999 (GRCm39)	missense	probably damaging	1.00
R0220:Ip6k3	UTSW	17	27,364,203 (GRCm39)	missense	probably damaging	1.00
R1448:Ip6k3	UTSW	17	27,364,242 (GRCm39)	missense	possibly damaging	0.90
R1749:Ip6k3	UTSW	17	27,364,053 (GRCm39)	missense	probably benign	0.00
R1956:Ip6k3	UTSW	17	27,370,142 (GRCm39)	missense	probably benign	0.01
R1957:Ip6k3	UTSW	17	27,370,142 (GRCm39)	missense	probably benign	0.01
R3125:Ip6k3	UTSW	17	27,376,516 (GRCm39)	missense	probably damaging	1.00
R3798:Ip6k3	UTSW	17	27,364,080 (GRCm39)	missense	probably benign	0.01
R4445:Ip6k3	UTSW	17	27,364,076 (GRCm39)	missense	probably benign	0.10
R4506:Ip6k3	UTSW	17	27,364,154 (GRCm39)	missense	possibly damaging	0.69
R4651:Ip6k3	UTSW	17	27,364,265 (GRCm39)	missense	probably damaging	1.00
R5972:Ip6k3	UTSW	17	27,368,934 (GRCm39)	missense	possibly damaging	0.48
R6119:Ip6k3	UTSW	17	27,367,599 (GRCm39)	missense	possibly damaging	0.72
R7140:Ip6k3	UTSW	17	27,363,969 (GRCm39)	missense	probably damaging	1.00
R7340:Ip6k3	UTSW	17	27,367,504 (GRCm39)	missense	probably benign	0.00
R7811:Ip6k3	UTSW	17	27,376,557 (GRCm39)	nonsense	probably null
R9105:Ip6k3	UTSW	17	27,364,169 (GRCm39)	missense	probably damaging	1.00
R9653:Ip6k3	UTSW	17	27,367,588 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- CCTTGGCAAAATTCTGCAGC -3'
(R):5'- GGCAAGCCCTTTCTCAGTTC -3'

Sequencing Primer
(F):5'- TCTGCAGCCCAGAGAAAAATC -3'
(R):5'- TCCATGATGGAACCCGCCTC -3'

Posted On

2015-04-02