Incidental Mutation 'IGL03181:Ippk'
ID 412231
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 # IGL03181
Quality Score
Status
Chromosome 13
Chromosomal Location 49574725-49618049 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 49595463 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 180 (Y180C)
Ref Sequence ENSEMBL: ENSMUSP00000152331 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021817] [ENSMUST00000220447] [ENSMUST00000220856]
AlphaFold Q6P1C1
Predicted Effect probably damaging
Transcript: ENSMUST00000021817
AA Change: Y229C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021817
Gene: ENSMUSG00000021385
AA Change: Y229C

DomainStartEndE-ValueType
Pfam:Ins_P5_2-kin 13 455 1.9e-96 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000220447
AA Change: Y180C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T C 12: 71,240,147 (GRCm39) V1319A possibly damaging Het
Abcb11 T A 2: 69,158,352 (GRCm39) probably benign Het
Acss3 G T 10: 106,889,249 (GRCm39) H190Q probably damaging Het
Adra2b C T 2: 127,205,903 (GRCm39) T140I probably benign Het
Arl1 T A 10: 88,578,921 (GRCm39) probably benign Het
Atp4a T G 7: 30,424,129 (GRCm39) C968G probably benign Het
Clec4n T C 6: 123,207,474 (GRCm39) C13R possibly damaging Het
Cnot3 T C 7: 3,656,247 (GRCm39) Y178H probably damaging Het
Col18a1 G A 10: 76,891,532 (GRCm39) R1560C probably damaging Het
Cyp2c66 T C 19: 39,130,483 (GRCm39) F106S probably benign Het
Dcn A C 10: 97,319,314 (GRCm39) E30D probably damaging Het
Dennd5a A T 7: 109,532,865 (GRCm39) F302I probably damaging Het
Dip2b T C 15: 100,113,088 (GRCm39) V1501A probably damaging Het
Dnah10 C T 5: 124,825,521 (GRCm39) P687S probably damaging Het
Drc7 A G 8: 95,794,755 (GRCm39) T387A probably benign Het
Dusp7 T A 9: 106,251,009 (GRCm39) M378K probably damaging Het
Ftmt T C 18: 52,464,953 (GRCm39) Y90H probably damaging Het
Glb1l3 T C 9: 26,739,659 (GRCm39) probably null Het
Gpatch3 T C 4: 133,305,433 (GRCm39) F223L probably damaging Het
Gpr158 T A 2: 21,787,972 (GRCm39) F538I probably benign Het
Gucy2e A G 11: 69,121,008 (GRCm39) probably benign Het
Hadha A G 5: 30,326,524 (GRCm39) V566A probably benign Het
Hectd4 A T 5: 121,492,021 (GRCm39) S3787C possibly damaging Het
Hnrnpk A T 13: 58,542,130 (GRCm39) D265E possibly damaging Het
Hspbp1 G A 7: 4,687,363 (GRCm39) R83W probably damaging Het
Hspg2 T A 4: 137,243,248 (GRCm39) L758Q probably damaging Het
Itpr3 T A 17: 27,330,242 (GRCm39) M1620K probably benign Het
Klf7 T C 1: 64,074,885 (GRCm39) K298R possibly damaging Het
Ktn1 A T 14: 47,970,741 (GRCm39) T1229S probably benign Het
Lefty2 A G 1: 180,725,115 (GRCm39) N282D probably damaging Het
Lrrc37 A T 11: 103,507,242 (GRCm39) probably benign Het
Nsd1 G A 13: 55,394,858 (GRCm39) E820K probably damaging Het
Obsl1 C A 1: 75,469,228 (GRCm39) A1238S probably benign Het
Odr4 G T 1: 150,239,290 (GRCm39) P378T probably benign Het
Pias2 T C 18: 77,220,938 (GRCm39) I391T possibly damaging Het
Ppp1r10 G T 17: 36,241,516 (GRCm39) G764* probably null Het
Ptpra T C 2: 130,359,707 (GRCm39) F158L probably damaging Het
Recql T C 6: 142,323,918 (GRCm39) S59G probably benign Het
Rrp1b A T 17: 32,276,150 (GRCm39) I566F probably benign Het
Sh3yl1 G A 12: 30,991,979 (GRCm39) D145N possibly damaging Het
Slc35f5 T A 1: 125,512,922 (GRCm39) I52N probably damaging Het
Slc51b A G 9: 65,322,447 (GRCm39) probably null Het
Smpd4 C T 16: 17,443,671 (GRCm39) Q72* probably null Het
Spata6 A G 4: 111,679,963 (GRCm39) D391G probably benign Het
Tnc T A 4: 63,885,543 (GRCm39) D1853V possibly damaging Het
Tnks1bp1 C T 2: 84,893,058 (GRCm39) T333I probably benign Het
Vmn2r100 T A 17: 19,752,207 (GRCm39) I813N probably damaging Het
Vwa8 T A 14: 79,246,690 (GRCm39) H677Q probably benign Het
Washc4 T C 10: 83,426,883 (GRCm39) Y1064H probably damaging Het
Wdr82 T A 9: 106,063,614 (GRCm39) I272K probably benign Het
Zc3h12a T C 4: 125,013,097 (GRCm39) Y589C probably 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
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
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 2016-08-02