Incidental Mutation 'R5522:Ipmk'
ID431625
Institutional Source Beutler Lab
Gene Symbol Ipmk
Ensembl Gene ENSMUSG00000060733
Gene Nameinositol polyphosphate multikinase
Synonyms
MMRRC Submission 043081-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R5522 (G1)
Quality Score225
Status Not validated
Chromosome10
Chromosomal Location71347763-71433327 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 71363474 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Lysine at position 55 (T55K)
Ref Sequence ENSEMBL: ENSMUSP00000112568 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079252] [ENSMUST00000118381] [ENSMUST00000121446] [ENSMUST00000147277]
Predicted Effect probably benign
Transcript: ENSMUST00000079252
AA Change: T55K

PolyPhen 2 Score 0.263 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000078240
Gene: ENSMUSG00000060733
AA Change: T55K

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
Pfam:IPK 110 391 1.4e-69 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000118381
AA Change: T55K

PolyPhen 2 Score 0.263 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000113083
Gene: ENSMUSG00000060733
AA Change: T55K

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
Pfam:IPK 110 194 8.2e-33 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000121446
AA Change: T55K

PolyPhen 2 Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000112568
Gene: ENSMUSG00000060733
AA Change: T55K

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
Pfam:IPK 111 392 2.6e-70 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141153
Predicted Effect probably benign
Transcript: ENSMUST00000147277
AA Change: T55K

PolyPhen 2 Score 0.263 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000120073
Gene: ENSMUSG00000060733
AA Change: T55K

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
Pfam:IPK 110 194 8.2e-33 PFAM
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 97.4%
  • 10x: 93.9%
  • 20x: 85.3%
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402H24Rik G A 2: 130,814,302 probably benign Het
Adgrl1 T C 8: 83,923,075 Y121H possibly damaging Het
Agbl5 G A 5: 30,893,903 probably null Het
Atp13a2 T A 4: 141,004,360 probably null Het
Cd69 A T 6: 129,271,416 S36T probably damaging Het
Ceacam5 A T 7: 17,715,080 I124L probably benign Het
Cerkl T C 2: 79,392,984 H131R probably benign Het
Cfap57 A T 4: 118,595,888 N539K probably benign Het
Cyp4x1 C A 4: 115,121,977 W141L probably damaging Het
Dlgap1 T C 17: 70,516,998 probably null Het
Dst T C 1: 34,257,873 I5781T possibly damaging Het
Epha2 T A 4: 141,308,556 V101E probably damaging Het
Exph5 T C 9: 53,374,313 F898S possibly damaging Het
Fyco1 G A 9: 123,794,771 R1398* probably null Het
Gemin6 T G 17: 80,227,749 V46G probably damaging Het
Grb10 T C 11: 11,936,746 I508V probably benign Het
Igf1r C A 7: 68,183,510 Q473K probably damaging Het
Ighv1-66 T A 12: 115,593,135 D109V probably damaging Het
Kdm2b A G 5: 122,949,162 Y192H probably damaging Het
Krt32 A T 11: 100,086,671 probably null Het
Kti12 T A 4: 108,848,423 L178Q possibly damaging Het
Mchr1 A T 15: 81,238,010 K320N possibly damaging Het
Mdn1 T C 4: 32,685,783 L858S probably damaging Het
Myo3a T A 2: 22,574,341 F198Y probably damaging Het
Ncam2 C T 16: 81,434,878 R77* probably null Het
Nfatc1 T C 18: 80,653,529 T647A probably benign Het
Nuf2 A G 1: 169,498,884 Y433H probably damaging Het
Nup210l T C 3: 90,154,665 V717A probably benign Het
Olfr183 A T 16: 58,999,905 L73F probably benign Het
Olfr401 A G 11: 74,121,658 Y123C probably damaging Het
Olfr781 A T 10: 129,332,929 D16V probably damaging Het
Pbrm1 A G 14: 31,089,563 Y1210C probably damaging Het
Pcdhb6 A G 18: 37,334,349 I108V probably benign Het
Plac8 T A 5: 100,562,718 T6S probably benign Het
Plbd1 A T 6: 136,617,300 V317E probably benign Het
Rars A T 11: 35,817,368 Y406* probably null Het
Scamp3 T C 3: 89,177,622 F11L possibly damaging Het
Sctr A G 1: 120,036,416 N142S probably benign Het
Sh2d4a T C 8: 68,296,697 S128P probably benign Het
Snrnp70 C T 7: 45,377,177 probably benign Het
Taf3 T C 2: 9,941,005 K596R probably damaging Het
Tango6 T C 8: 106,695,598 probably null Het
Taok3 A G 5: 117,273,757 T414A probably benign Het
Tmem104 G A 11: 115,188,323 probably null Het
Tmem231 T A 8: 111,918,410 S155C possibly damaging Het
Tssk3 G A 4: 129,489,550 R110W possibly damaging Het
Ugt2b37 T C 5: 87,240,900 T485A probably benign Het
Unc5b T C 10: 60,778,195 K292E possibly damaging Het
Upf3a T A 8: 13,795,497 probably null Het
Usp24 T A 4: 106,372,721 V797E probably damaging Het
Vcan T C 13: 89,691,810 T1872A possibly damaging Het
Vmn1r195 A G 13: 22,278,950 M197V probably damaging Het
Vmn2r40 T A 7: 8,908,204 T697S probably benign Het
Xab2 A T 8: 3,611,718 D578E probably benign Het
Xpo7 A T 14: 70,671,650 Y810* probably null Het
Zcchc2 A G 1: 106,023,696 N587S probably benign Het
Zfp189 C T 4: 49,529,739 R281* probably null Het
Zranb1 T C 7: 132,983,949 *735R probably null 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
IGL01872:Ipmk APN 10 71372876 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
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
Predicted Primers PCR Primer
(F):5'- GAACGTCGGTTGAATGTTACAAC -3'
(R):5'- CTTAGCATTTCTGAGAGTGACAAAC -3'

Sequencing Primer
(F):5'- CGTCGGTTGAATGTTACAACTTCTAG -3'
(R):5'- ACGAGCCTTGTTTGCATGAAGC -3'
Posted On2016-10-05