Incidental Mutation 'IGL01994:Ippk'
ID 183589
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ippk
Ensembl Gene ENSMUSG00000021385
Gene Name inositol 1,3,4,5,6-pentakisphosphate 2-kinase
Synonyms 1810043M15Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01994
Quality Score
Status
Chromosome 13
Chromosomal Location 49574725-49618049 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 49612093 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Arginine at position 439 (Q439R)
Ref Sequence ENSEMBL: ENSMUSP00000021817 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021817] [ENSMUST00000220447] [ENSMUST00000220856]
AlphaFold Q6P1C1
Predicted Effect possibly damaging
Transcript: ENSMUST00000021817
AA Change: Q439R

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000021817
Gene: ENSMUSG00000021385
AA Change: Q439R

DomainStartEndE-ValueType
Pfam:Ins_P5_2-kin 13 455 1.9e-96 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000220447
AA Change: Q390R

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect probably benign
Transcript: ENSMUST00000220856
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a kinase that phosphorylates position 2 of inositol-1,3,4,5,6-pentakisphosphate to form inositol-1,2,3,4,5,6-hexakisphosphate (InsP6). InsP6 has a variety of functions, including stimulation of DNA repair, endocytosis, and mRNA export. [provided by RefSeq, Nov 2010]
PHENOTYPE: Embryos homozygous for a gene trap insertion die prior to E8.5. [provided by MGI curators]
Allele List at MGI

All alleles(9) : Targeted, knock-out(1) Targeted, other(2) Gene trapped(6)

Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn2 A T 13: 12,305,563 (GRCm39) Y418N probably benign Het
Adam15 T C 3: 89,248,812 (GRCm39) probably benign Het
Adam32 C A 8: 25,392,812 (GRCm39) probably benign Het
Adamts12 T A 15: 11,345,680 (GRCm39) C1574S probably damaging Het
Adck1 T C 12: 88,397,926 (GRCm39) S187P possibly damaging Het
Atp13a3 A G 16: 30,156,336 (GRCm39) V949A possibly damaging Het
Atxn3 T C 12: 101,908,439 (GRCm39) T138A probably benign Het
Atxn7l2 C T 3: 108,110,859 (GRCm39) R559Q probably damaging Het
Bicra G T 7: 15,706,741 (GRCm39) S1233R possibly damaging Het
Cacybp G T 1: 160,034,206 (GRCm39) N101K probably damaging Het
Cops7b T C 1: 86,528,828 (GRCm39) L185P probably damaging Het
Cttnbp2 T C 6: 18,420,814 (GRCm39) D899G possibly damaging Het
Cyp4f37 C T 17: 32,844,150 (GRCm39) R85* probably null Het
Dnah3 T G 7: 119,550,437 (GRCm39) N3294T possibly damaging Het
Elmo1 T A 13: 20,526,634 (GRCm39) Y395N probably damaging Het
Fam234b T A 6: 135,202,203 (GRCm39) Y308* probably null Het
Fam43a A G 16: 30,419,481 (GRCm39) K22E probably damaging Het
Fcer2a T C 8: 3,738,302 (GRCm39) N123D possibly damaging Het
Gm11595 A G 11: 99,663,027 (GRCm39) C218R unknown Het
Gria4 T C 9: 4,537,726 (GRCm39) Y194C probably damaging Het
Grin2d T C 7: 45,507,396 (GRCm39) E435G probably damaging Het
Hectd1 T C 12: 51,844,725 (GRCm39) E506G probably damaging Het
Htt G A 5: 34,989,948 (GRCm39) S1160N possibly damaging Het
Ift140 A G 17: 25,267,417 (GRCm39) E605G probably damaging Het
Il17re T C 6: 113,445,411 (GRCm39) V374A probably benign Het
Itgam G A 7: 127,700,899 (GRCm39) V530M probably damaging Het
Kirrel3 A G 9: 34,931,429 (GRCm39) H47R possibly damaging Het
Klk1b24 A T 7: 43,841,057 (GRCm39) I162F probably damaging Het
Lama1 A T 17: 68,059,434 (GRCm39) T606S probably benign Het
Lama2 C T 10: 27,343,199 (GRCm39) probably null Het
Lrp2 A G 2: 69,313,945 (GRCm39) I2262T probably benign Het
Mamdc4 A T 2: 25,458,546 (GRCm39) I317N possibly damaging Het
Mtmr3 G T 11: 4,437,938 (GRCm39) H839N probably benign Het
Ncr1 G T 7: 4,344,253 (GRCm39) V177F probably benign Het
Nop58 T C 1: 59,743,242 (GRCm39) S219P probably damaging Het
Nrg3 T C 14: 38,734,043 (GRCm39) Y281C probably damaging Het
Nsf A G 11: 103,819,608 (GRCm39) S54P probably damaging Het
Or56b6 A T 7: 104,925,153 (GRCm39) noncoding transcript Het
Or6k8-ps1 T A 1: 173,979,102 (GRCm39) S7T probably benign Het
Plxnc1 T C 10: 94,685,801 (GRCm39) K730R probably damaging Het
Polr2g A T 19: 8,771,740 (GRCm39) probably benign Het
Rps13 A G 7: 115,932,925 (GRCm39) probably benign Het
Scgb2b7 A G 7: 31,403,409 (GRCm39) I99T probably benign Het
Slc22a27 G T 19: 7,887,108 (GRCm39) H260Q possibly damaging Het
Spata18 G T 5: 73,814,944 (GRCm39) probably null Het
Tns2 A G 15: 102,019,814 (GRCm39) E560G possibly damaging Het
Trbv16 T C 6: 41,128,715 (GRCm39) probably benign Het
Ubr3 T A 2: 69,851,520 (GRCm39) I1829N probably damaging Het
Vcl C T 14: 21,053,311 (GRCm39) T442I probably damaging Het
Vmn2r102 T A 17: 19,880,731 (GRCm39) I24N probably benign Het
Vmn2r114 T C 17: 23,529,451 (GRCm39) D217G probably damaging Het
Vmn2r58 A G 7: 41,486,394 (GRCm39) Y834H probably damaging Het
Zdhhc8 G T 16: 18,045,636 (GRCm39) probably benign Het
Other mutations in Ippk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01674:Ippk APN 13 49,602,740 (GRCm39) missense probably damaging 1.00
IGL02165:Ippk APN 13 49,600,011 (GRCm39) missense possibly damaging 0.78
IGL02577:Ippk APN 13 49,615,134 (GRCm39) missense possibly damaging 0.86
IGL03181:Ippk APN 13 49,595,463 (GRCm39) missense probably damaging 1.00
1mM(1):Ippk UTSW 13 49,588,967 (GRCm39) missense probably damaging 1.00
R0467:Ippk UTSW 13 49,584,341 (GRCm39) splice site probably null
R0811:Ippk UTSW 13 49,596,947 (GRCm39) missense probably damaging 1.00
R0812:Ippk UTSW 13 49,596,947 (GRCm39) missense probably damaging 1.00
R1491:Ippk UTSW 13 49,615,069 (GRCm39) missense probably benign 0.16
R1621:Ippk UTSW 13 49,615,044 (GRCm39) missense probably benign 0.15
R1930:Ippk UTSW 13 49,603,494 (GRCm39) missense probably damaging 1.00
R4081:Ippk UTSW 13 49,599,852 (GRCm39) missense probably damaging 1.00
R5815:Ippk UTSW 13 49,599,839 (GRCm39) missense probably damaging 1.00
R7007:Ippk UTSW 13 49,590,181 (GRCm39) splice site probably null
R7069:Ippk UTSW 13 49,615,219 (GRCm39) missense probably damaging 0.99
R7258:Ippk UTSW 13 49,587,338 (GRCm39) missense probably benign 0.02
R7337:Ippk UTSW 13 49,602,767 (GRCm39) missense probably benign 0.39
R7466:Ippk UTSW 13 49,585,943 (GRCm39) critical splice donor site probably null
R7794:Ippk UTSW 13 49,599,818 (GRCm39) missense
R7848:Ippk UTSW 13 49,596,972 (GRCm39) critical splice donor site probably null
R8112:Ippk UTSW 13 49,599,818 (GRCm39) missense
R8113:Ippk UTSW 13 49,599,818 (GRCm39) missense
R8115:Ippk UTSW 13 49,599,818 (GRCm39) missense
R8116:Ippk UTSW 13 49,599,818 (GRCm39) missense
R8117:Ippk UTSW 13 49,599,818 (GRCm39) missense
R8118:Ippk UTSW 13 49,599,818 (GRCm39) missense
R8245:Ippk UTSW 13 49,599,818 (GRCm39) missense
R8378:Ippk UTSW 13 49,589,055 (GRCm39) nonsense probably null
R8395:Ippk UTSW 13 49,615,096 (GRCm39) missense probably damaging 0.99
R8549:Ippk UTSW 13 49,615,177 (GRCm39) missense probably benign 0.00
R8912:Ippk UTSW 13 49,603,513 (GRCm39) missense probably damaging 0.98
R9351:Ippk UTSW 13 49,615,107 (GRCm39) missense probably benign 0.22
Posted On 2014-05-07