Incidental Mutation 'IGL01872:Ipmk'
ID178738
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ipmk
Ensembl Gene ENSMUSG00000060733
Gene Nameinositol polyphosphate multikinase
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01872
Quality Score
Status
Chromosome10
Chromosomal Location71347763-71433327 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 71372876 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 165 (M165K)
Ref Sequence ENSEMBL: ENSMUSP00000112568 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079252] [ENSMUST00000118381] [ENSMUST00000121446] [ENSMUST00000147277]
Predicted Effect probably damaging
Transcript: ENSMUST00000079252
AA Change: M164K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000078240
Gene: ENSMUSG00000060733
AA Change: M164K

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
Pfam:IPK 110 391 1.4e-69 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000118381
AA Change: M164K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113083
Gene: ENSMUSG00000060733
AA Change: M164K

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
Pfam:IPK 110 194 8.2e-33 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000121446
AA Change: M165K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112568
Gene: ENSMUSG00000060733
AA Change: M165K

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
Pfam:IPK 111 392 2.6e-70 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000147277
AA Change: M164K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000120073
Gene: ENSMUSG00000060733
AA Change: M164K

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
Pfam:IPK 110 194 8.2e-33 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 member of the inositol phosphokinase family. The encoded protein has 3-kinase, 5-kinase and 6-kinase activities on phosphorylated inositol substrates. The encoded protein plays an important role in the biosynthesis of inositol 1,3,4,5,6-pentakisphosphate, and has a preferred 5-kinase activity. This gene may play a role in nuclear mRNA export. Pseudogenes of this gene are located on the long arm of chromosome 13 and the short arm of chromosome 19. [provided by RefSeq, Dec 2010]
PHENOTYPE: Homozygous null mice display embryonic lethality, reduced embryo size, delayed embryonic development, failure of chorioallantoic fusion and embryo turning, and a kinked and open neural tube. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010315B03Rik A T 9: 124,295,490 probably benign Het
Alpk2 A G 18: 65,304,753 S1657P probably benign Het
Alx4 A G 2: 93,677,473 N371S probably benign Het
Cby1 T A 15: 79,665,742 W59R probably damaging Het
Chmp1a A T 8: 123,206,237 L159Q probably damaging Het
Ciz1 T C 2: 32,378,109 probably benign Het
Cnksr1 A G 4: 134,228,964 I603T probably benign Het
Dph1 A C 11: 75,181,341 F220C probably damaging Het
Epha4 T A 1: 77,383,039 M726L probably benign Het
Eps8l1 C T 7: 4,472,296 probably benign Het
Fbxo24 C A 5: 137,613,725 R313L probably damaging Het
Fgf4 C T 7: 144,862,258 R119* probably null Het
Grb10 T C 11: 11,970,547 T24A probably damaging Het
Ifi27 C T 12: 103,435,460 A2V probably damaging Het
Kcnk2 C T 1: 189,256,583 G266R probably damaging Het
Mak A C 13: 41,056,655 M35R probably damaging Het
Mlxipl A T 5: 135,113,691 I120F probably damaging Het
Nav1 A G 1: 135,454,076 V1423A probably damaging Het
Olfm4 T C 14: 80,021,928 *506Q probably null Het
Olfr1000 T A 2: 85,608,329 M194L probably benign Het
Olfr541 T C 7: 140,704,263 L4P possibly damaging Het
Olfr597 T C 7: 103,320,972 V187A probably benign Het
Opn4 T A 14: 34,597,209 probably benign Het
Otof G A 5: 30,379,254 probably benign Het
Pde5a G A 3: 122,794,369 probably null Het
Pik3r1 A T 13: 101,689,117 D87E probably benign Het
Rbm6 A T 9: 107,783,715 V883E probably damaging Het
Rptn A G 3: 93,396,847 S496G probably benign Het
Sap130 A G 18: 31,674,420 R427G probably damaging Het
Slc26a4 T C 12: 31,539,203 S415G probably benign Het
Slc5a1 T C 5: 33,154,637 S458P probably damaging Het
Smg1 A G 7: 118,148,944 probably benign Het
Sspo G T 6: 48,454,689 V639L probably damaging Het
Ttn A G 2: 76,898,733 probably benign Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Vps54 G A 11: 21,306,940 A683T probably damaging Het
Zfp354a A T 11: 51,069,337 N123I possibly damaging Het
Zfpm2 T C 15: 41,102,387 V624A probably benign Het
Other mutations in Ipmk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01382:Ipmk APN 10 71376766 missense probably damaging 0.99
IGL01524:Ipmk APN 10 71372801 missense probably damaging 1.00
I1329:Ipmk UTSW 10 71381447 missense possibly damaging 0.46
R0282:Ipmk UTSW 10 71372831 missense probably benign 0.06
R1477:Ipmk UTSW 10 71381777 missense probably damaging 1.00
R1759:Ipmk UTSW 10 71381303 missense probably damaging 1.00
R2042:Ipmk UTSW 10 71363503 missense probably damaging 1.00
R2070:Ipmk UTSW 10 71372749 nonsense probably null
R2160:Ipmk UTSW 10 71381426 missense probably benign 0.00
R2520:Ipmk UTSW 10 71381217 missense probably damaging 1.00
R4570:Ipmk UTSW 10 71372739 missense probably benign 0.04
R5522:Ipmk UTSW 10 71363474 missense probably benign 0.30
R6941:Ipmk UTSW 10 71348090 missense probably null 1.00
R7198:Ipmk UTSW 10 71348052 missense probably damaging 1.00
R7203:Ipmk UTSW 10 71363468 missense possibly damaging 0.67
R7414:Ipmk UTSW 10 71381294 missense probably damaging 0.98
Posted On2014-05-07