Incidental Mutation 'IGL01994:Ippk'
ID183589
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ippk
Ensembl Gene ENSMUSG00000021385
Gene Nameinositol 1,3,4,5,6-pentakisphosphate 2-kinase
Synonyms1810043M15Rik
Accession Numbers

Genbank: NM_199056.2; Ensembl: ENSMUST00000021817

Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01994
Quality Score
Status
Chromosome13
Chromosomal Location49421249-49464573 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 49458617 bp
ZygosityHeterozygous
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]
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: 12,290,677 Y418N probably benign Het
Adam15 T C 3: 89,341,505 probably benign Het
Adam32 C A 8: 24,902,796 probably benign Het
Adamts12 T A 15: 11,345,594 C1574S probably damaging Het
Adck1 T C 12: 88,431,156 S187P possibly damaging Het
Atp13a3 A G 16: 30,337,518 V949A possibly damaging Het
Atxn3 T C 12: 101,942,180 T138A probably benign Het
Atxn7l2 C T 3: 108,203,543 R559Q probably damaging Het
Bicra G T 7: 15,972,816 S1233R possibly damaging Het
Cacybp G T 1: 160,206,636 N101K probably damaging Het
Cops7b T C 1: 86,601,106 L185P probably damaging Het
Cttnbp2 T C 6: 18,420,815 D899G possibly damaging Het
Cyp4f37 C T 17: 32,625,176 R85* probably null Het
Dnah3 T G 7: 119,951,214 N3294T possibly damaging Het
Elmo1 T A 13: 20,342,464 Y395N probably damaging Het
Fam234b T A 6: 135,225,205 Y308* probably null Het
Fam43a A G 16: 30,600,663 K22E probably damaging Het
Fcer2a T C 8: 3,688,302 N123D possibly damaging Het
Gm11595 A G 11: 99,772,201 C218R unknown Het
Gria4 T C 9: 4,537,726 Y194C probably damaging Het
Grin2d T C 7: 45,857,972 E435G probably damaging Het
Hectd1 T C 12: 51,797,942 E506G probably damaging Het
Htt G A 5: 34,832,604 S1160N possibly damaging Het
Ift140 A G 17: 25,048,443 E605G probably damaging Het
Il17re T C 6: 113,468,450 V374A probably benign Het
Itgam G A 7: 128,101,727 V530M probably damaging Het
Kirrel3 A G 9: 35,020,133 H47R possibly damaging Het
Klk1b24 A T 7: 44,191,633 I162F probably damaging Het
Lama1 A T 17: 67,752,439 T606S probably benign Het
Lama2 C T 10: 27,467,203 probably null Het
Lrp2 A G 2: 69,483,601 I2262T probably benign Het
Mamdc4 A T 2: 25,568,534 I317N possibly damaging Het
Mtmr3 G T 11: 4,487,938 H839N probably benign Het
Ncr1 G T 7: 4,341,254 V177F probably benign Het
Nop58 T C 1: 59,704,083 S219P probably damaging Het
Nrg3 T C 14: 39,012,086 Y281C probably damaging Het
Nsf A G 11: 103,928,782 S54P probably damaging Het
Olfr421-ps1 T A 1: 174,151,536 S7T probably benign Het
Olfr687 A T 7: 105,275,946 noncoding transcript Het
Plxnc1 T C 10: 94,849,939 K730R probably damaging Het
Polr2g A T 19: 8,794,376 probably benign Het
Rps13 A G 7: 116,333,690 probably benign Het
Scgb2b7 A G 7: 31,703,984 I99T probably benign Het
Slc22a27 G T 19: 7,909,743 H260Q possibly damaging Het
Spata18 G T 5: 73,657,601 probably null Het
Tns2 A G 15: 102,111,379 E560G possibly damaging Het
Trbv16 T C 6: 41,151,781 probably benign Het
Ubr3 T A 2: 70,021,176 I1829N probably damaging Het
Vcl C T 14: 21,003,243 T442I probably damaging Het
Vmn2r102 T A 17: 19,660,469 I24N probably benign Het
Vmn2r114 T C 17: 23,310,477 D217G probably damaging Het
Vmn2r58 A G 7: 41,836,970 Y834H probably damaging Het
Zdhhc8 G T 16: 18,227,772 probably benign Het
Other mutations in Ippk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01674:Ippk APN 13 49449264 missense probably damaging 1.00
IGL02165:Ippk APN 13 49446535 missense possibly damaging 0.78
IGL02577:Ippk APN 13 49461658 missense possibly damaging 0.86
IGL03181:Ippk APN 13 49441987 missense probably damaging 1.00
1mM(1):Ippk UTSW 13 49435491 missense probably damaging 1.00
R0467:Ippk UTSW 13 49430865 splice site probably null
R0811:Ippk UTSW 13 49443471 missense probably damaging 1.00
R0812:Ippk UTSW 13 49443471 missense probably damaging 1.00
R1491:Ippk UTSW 13 49461593 missense probably benign 0.16
R1621:Ippk UTSW 13 49461568 missense probably benign 0.15
R1930:Ippk UTSW 13 49450018 missense probably damaging 1.00
R4081:Ippk UTSW 13 49446376 missense probably damaging 1.00
R5815:Ippk UTSW 13 49446363 missense probably damaging 1.00
R7007:Ippk UTSW 13 49436705 splice site probably null
R7069:Ippk UTSW 13 49461743 missense probably damaging 0.99
R7258:Ippk UTSW 13 49433862 missense probably benign 0.02
R7337:Ippk UTSW 13 49449291 missense probably benign 0.39
R7466:Ippk UTSW 13 49432467 critical splice donor site probably null
Posted On2014-05-07