Incidental Mutation 'IGL01584:Ip6k3'
ID 91470
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ip6k3
Ensembl Gene ENSMUSG00000024210
Gene Name inositol hexaphosphate kinase 3
Synonyms Ihpk3, D830007E07Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.124) question?
Stock # IGL01584
Quality Score
Status
Chromosome 17
Chromosomal Location 27362945-27386738 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 27370034 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 128 (R128L)
Ref Sequence ENSEMBL: ENSMUSP00000025046 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025046]
AlphaFold Q8BWD2
Predicted Effect probably benign
Transcript: ENSMUST00000025046
AA Change: R128L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000025046
Gene: ENSMUSG00000024210
AA Change: R128L

DomainStartEndE-ValueType
Pfam:IPK 193 390 3e-68 PFAM
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 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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 A G 11: 110,195,749 (GRCm39) V570A probably damaging Het
Abcb1a T C 5: 8,748,637 (GRCm39) S323P possibly damaging Het
Adcy8 C T 15: 64,687,170 (GRCm39) D445N probably damaging Het
Cdc14a A T 3: 116,186,474 (GRCm39) Y102* probably null Het
Cubn A G 2: 13,313,472 (GRCm39) probably benign Het
Dcaf7 T C 11: 105,944,653 (GRCm39) S279P probably benign Het
Dock10 T C 1: 80,511,567 (GRCm39) Q1514R probably damaging Het
Dtx2 G A 5: 136,055,420 (GRCm39) S369N possibly damaging Het
Dusp11 A G 6: 85,930,376 (GRCm39) F136S probably damaging Het
Fbxo32 T C 15: 58,047,632 (GRCm39) D227G probably damaging Het
Flg2 T A 3: 93,120,773 (GRCm39) V1215E unknown Het
Flg2 A T 3: 93,122,777 (GRCm39) D1649V unknown Het
Gabbr2 T C 4: 46,674,524 (GRCm39) K821R probably damaging Het
Gga2 T C 7: 121,590,761 (GRCm39) T516A probably benign Het
Gm15446 T A 5: 110,088,668 (GRCm39) *64K probably null Het
Gm5900 T C 7: 104,599,361 (GRCm39) noncoding transcript Het
Il17rb A G 14: 29,725,637 (GRCm39) F121S probably damaging Het
Kmt2d A T 15: 98,754,250 (GRCm39) probably benign Het
Lrrn4 A G 2: 132,719,996 (GRCm39) L268P probably damaging Het
Mthfd1l C A 10: 3,966,738 (GRCm39) S332R probably damaging Het
Or12d12 C T 17: 37,610,629 (GRCm39) R228H probably benign Het
Or5t17 G A 2: 86,832,495 (GRCm39) V61I probably benign Het
Pdzd2 T C 15: 12,592,569 (GRCm39) E25G probably damaging Het
Prima1 A T 12: 103,169,047 (GRCm39) probably null Het
Rbm26 A G 14: 105,368,968 (GRCm39) V737A probably damaging Het
Ryr2 C T 13: 11,616,644 (GRCm39) probably null Het
Sema5b G T 16: 35,465,793 (GRCm39) C114F probably damaging Het
Spata31f1e A C 4: 42,794,014 (GRCm39) S39R probably damaging Het
Speg T C 1: 75,407,581 (GRCm39) V3196A probably damaging Het
Svs3b T C 2: 164,097,943 (GRCm39) Y126C probably benign Het
Tmem171 T C 13: 98,828,683 (GRCm39) probably null Het
Tnrc6b T A 15: 80,763,883 (GRCm39) W462R probably benign Het
Trdmt1 T C 2: 13,524,739 (GRCm39) R239G probably benign Het
Usp5 A T 6: 124,796,350 (GRCm39) V583E probably damaging Het
Utrn A G 10: 12,602,111 (GRCm39) V639A probably benign Het
Vmn1r206 T C 13: 22,804,964 (GRCm39) K81R probably damaging Het
Vwa3a A G 7: 120,383,197 (GRCm39) I599M probably benign Het
Other mutations in Ip6k3
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R3806:Ip6k3 UTSW 17 27,363,974 (GRCm39) missense probably damaging 1.00
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
Posted On 2013-12-09