Incidental Mutation 'IGL02165:Ippk'
ID 282670
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 # IGL02165
Quality Score
Status
Chromosome 13
Chromosomal Location 49574725-49618049 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 49600011 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 339 (V339D)
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: V339D

PolyPhen 2 Score 0.779 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000021817
Gene: ENSMUSG00000021385
AA Change: V339D

DomainStartEndE-ValueType
Pfam:Ins_P5_2-kin 13 455 1.9e-96 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000220447
AA Change: V290D

PolyPhen 2 Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1cf T A 19: 31,904,586 (GRCm39) M199K possibly damaging Het
Abo C A 2: 26,733,441 (GRCm39) V255L probably damaging Het
Alas1 A T 9: 106,115,982 (GRCm39) M344K probably damaging Het
Ap1m1 A G 8: 73,003,653 (GRCm39) I118V probably benign Het
Ap5m1 A T 14: 49,316,185 (GRCm39) I252F possibly damaging Het
Arhgef2 G A 3: 88,553,527 (GRCm39) R886H probably damaging Het
Atp13a4 T C 16: 29,252,828 (GRCm39) E706G probably damaging Het
Baz2a C A 10: 127,955,218 (GRCm39) A775E probably benign Het
C3 A T 17: 57,532,092 (GRCm39) F210I probably benign Het
Casq1 A G 1: 172,040,948 (GRCm39) L280P probably damaging Het
Cebpz A G 17: 79,229,598 (GRCm39) F919L probably damaging Het
Commd1b A T 11: 22,932,072 (GRCm39) probably benign Het
Dclre1c T A 2: 3,451,418 (GRCm39) probably benign Het
Dsc3 T G 18: 20,116,709 (GRCm39) M276L probably benign Het
Dync2i2 T C 2: 29,922,172 (GRCm39) T430A probably benign Het
Eftud2 A G 11: 102,742,573 (GRCm39) probably benign Het
Elfn2 T A 15: 78,557,618 (GRCm39) T310S probably benign Het
Ep300 A G 15: 81,525,592 (GRCm39) K1472R probably benign Het
Fbxl2 T C 9: 113,847,099 (GRCm39) D8G probably benign Het
Galnt5 T A 2: 57,888,877 (GRCm39) M159K probably benign Het
Hars2 T A 18: 36,916,447 (GRCm39) M1K probably null Het
Hk1 T C 10: 62,117,667 (GRCm39) T619A probably damaging Het
Ifi44 C T 3: 151,455,067 (GRCm39) V53M probably damaging Het
Kcnma1 G T 14: 23,387,035 (GRCm39) N875K possibly damaging Het
Kdm5a T A 6: 120,392,251 (GRCm39) V991E probably damaging Het
Larp6 A G 9: 60,620,595 (GRCm39) E36G probably benign Het
Lonp2 A T 8: 87,435,654 (GRCm39) D210V probably damaging Het
Lrrc4c G A 2: 97,459,378 (GRCm39) M1I probably null Het
Mmp2 A G 8: 93,559,847 (GRCm39) K270R probably null Het
Nexmif C T X: 103,128,360 (GRCm39) V1186I probably benign Het
Or11g2 A G 14: 50,856,468 (GRCm39) Y263C probably damaging Het
Or1x2 A T 11: 50,918,470 (GRCm39) I214F probably benign Het
Pld2 T C 11: 70,446,503 (GRCm39) L763P probably damaging Het
Pold1 A T 7: 44,187,484 (GRCm39) F644L probably damaging Het
Prrc2b T C 2: 32,104,652 (GRCm39) S1377P probably damaging Het
Rps18-ps6 T G 13: 97,896,648 (GRCm39) K150T probably benign Het
Rttn A G 18: 89,061,165 (GRCm39) D1111G probably benign Het
Slc27a5 A G 7: 12,728,875 (GRCm39) V130A probably damaging Het
Slfn8 T C 11: 82,908,022 (GRCm39) R174G probably benign Het
Slitrk6 G A 14: 110,989,249 (GRCm39) P153S probably benign Het
Sorcs3 T C 19: 48,642,511 (GRCm39) I388T probably benign Het
Star A T 8: 26,302,843 (GRCm39) T262S possibly damaging Het
Strn A T 17: 78,995,049 (GRCm39) W2R probably damaging Het
Tnmd T C X: 132,763,701 (GRCm39) S172P probably damaging Het
Togaram2 A G 17: 72,004,861 (GRCm39) K305R probably benign Het
Trhde C A 10: 114,428,066 (GRCm39) W410L probably damaging Het
Trim5 C T 7: 103,928,566 (GRCm39) R125Q probably damaging Het
Unc45b C T 11: 82,831,007 (GRCm39) probably benign Het
Vmn1r80 T A 7: 11,927,379 (GRCm39) M163K probably benign Het
Wnk4 C A 11: 101,166,117 (GRCm39) probably benign Het
Zfp277 T A 12: 40,365,802 (GRCm39) I430F possibly damaging Het
Zfp566 A T 7: 29,777,255 (GRCm39) C309S probably damaging Het
Zfp740 T G 15: 102,121,109 (GRCm39) F141V possibly damaging Het
Zfp87 T A 13: 67,665,989 (GRCm39) I158F probably damaging Het
Zswim3 C A 2: 164,663,035 (GRCm39) A505D possibly damaging Het
Other mutations in Ippk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01674:Ippk APN 13 49,602,740 (GRCm39) missense probably damaging 1.00
IGL01994:Ippk APN 13 49,612,093 (GRCm39) missense possibly damaging 0.94
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 2015-04-16