Incidental Mutation 'R2042:Ipmk'
ID 225100
Institutional Source Beutler Lab
Gene Symbol Ipmk
Ensembl Gene ENSMUSG00000060733
Gene Name inositol polyphosphate multikinase
Synonyms 2410017C19Rik
MMRRC Submission 040049-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2042 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 71183574-71221715 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 71199333 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 65 (R65W)
Ref Sequence ENSEMBL: ENSMUSP00000120073 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079252] [ENSMUST00000118381] [ENSMUST00000121446] [ENSMUST00000147277]
AlphaFold Q7TT16
Predicted Effect probably damaging
Transcript: ENSMUST00000079252
AA Change: R65W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000078240
Gene: ENSMUSG00000060733
AA Change: R65W

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: R65W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113083
Gene: ENSMUSG00000060733
AA Change: R65W

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: R65W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000112568
Gene: ENSMUSG00000060733
AA Change: R65W

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 damaging
Transcript: ENSMUST00000147277
AA Change: R65W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000120073
Gene: ENSMUSG00000060733
AA Change: R65W

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
Pfam:IPK 110 194 8.2e-33 PFAM
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.4%
Validation Efficiency 100% (67/67)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik T A 3: 124,210,377 (GRCm39) probably benign Het
Abca16 G A 7: 120,143,941 (GRCm39) R1653Q probably benign Het
Ahnak2 T A 12: 112,749,439 (GRCm39) Y176F probably damaging Het
Ano6 T C 15: 95,853,904 (GRCm39) probably null Het
Atr T C 9: 95,752,075 (GRCm39) L564S probably benign Het
Birc6 C G 17: 74,916,654 (GRCm39) A1774G probably damaging Het
Cacng1 C T 11: 107,595,134 (GRCm39) A148T probably damaging Het
Cd53 T A 3: 106,674,740 (GRCm39) probably null Het
Celsr2 A G 3: 108,309,811 (GRCm39) F1596S probably damaging Het
Cep120 A T 18: 53,868,814 (GRCm39) F122I possibly damaging Het
Ckm A T 7: 19,148,082 (GRCm39) H7L possibly damaging Het
Crybg2 T C 4: 133,814,844 (GRCm39) V1575A possibly damaging Het
Cspp1 A G 1: 10,182,763 (GRCm39) E712G probably damaging Het
Cyp2b23 C A 7: 26,365,533 (GRCm39) R434L probably damaging Het
D630003M21Rik A T 2: 158,057,769 (GRCm39) S570T probably damaging Het
Dmbt1 A G 7: 130,708,089 (GRCm39) I1444V probably damaging Het
Dnah8 T C 17: 30,854,632 (GRCm39) V98A probably benign Het
Dtx1 T G 5: 120,832,541 (GRCm39) N299T probably benign Het
Efr3b T A 12: 4,034,627 (GRCm39) D65V probably damaging Het
Eml4 T C 17: 83,755,607 (GRCm39) C323R probably damaging Het
Eps15 C T 4: 109,161,964 (GRCm39) T31I probably damaging Het
Fam91a1 A G 15: 58,298,443 (GRCm39) I184V probably benign Het
Fbxl8 A T 8: 105,994,856 (GRCm39) I123F probably damaging Het
Fbxw26 T G 9: 109,561,772 (GRCm39) T141P probably damaging Het
Fhip1b G T 7: 105,033,328 (GRCm39) Y629* probably null Het
Glra3 G A 8: 56,515,494 (GRCm39) D190N probably benign Het
Hspg2 T C 4: 137,295,677 (GRCm39) L4229P probably damaging Het
Irs2 A G 8: 11,057,580 (GRCm39) I284T probably damaging Het
Klhl22 T C 16: 17,610,284 (GRCm39) probably benign Het
Lmcd1 T A 6: 112,292,851 (GRCm39) D234E probably benign Het
Lrrc14b T C 13: 74,511,561 (GRCm39) K173R probably benign Het
Magi1 A T 6: 93,732,026 (GRCm39) N209K probably benign Het
Mak A C 13: 41,202,912 (GRCm39) S179A possibly damaging Het
Map3k4 C A 17: 12,496,870 (GRCm39) R87L probably damaging Het
Map4k1 T C 7: 28,683,555 (GRCm39) L53P probably damaging Het
Melk T C 4: 44,309,051 (GRCm39) probably null Het
Mks1 C T 11: 87,747,494 (GRCm39) probably benign Het
Mrgpra2b C T 7: 47,113,908 (GRCm39) V249I probably benign Het
N4bp2 C T 5: 65,983,964 (GRCm39) P1670S probably damaging Het
Ncf1 C G 5: 134,255,494 (GRCm39) Q132H probably benign Het
Nemp1 T C 10: 127,532,203 (GRCm39) S370P possibly damaging Het
Nt5c3b T C 11: 100,327,020 (GRCm39) H92R probably benign Het
Or12j2 T C 7: 139,915,850 (GRCm39) L25P probably damaging Het
Or4p19 G A 2: 88,242,546 (GRCm39) A152V possibly damaging Het
P4ha3 T C 7: 99,949,897 (GRCm39) probably null Het
Pcnx1 C A 12: 81,965,067 (GRCm39) H411Q probably damaging Het
Podxl A G 6: 31,500,051 (GRCm39) V473A possibly damaging Het
Prkd2 T C 7: 16,590,193 (GRCm39) S530P possibly damaging Het
Scin A G 12: 40,127,509 (GRCm39) I427T possibly damaging Het
Sgo2b T C 8: 64,381,561 (GRCm39) T424A probably benign Het
Slc22a2 T C 17: 12,818,012 (GRCm39) I196T probably benign Het
Slc47a2 C A 11: 61,228,908 (GRCm39) V90L probably benign Het
Slc4a7 G A 14: 14,737,386 (GRCm38) V99M probably damaging Het
Spata31f3 C T 4: 42,874,030 (GRCm39) C46Y possibly damaging Het
Sprr2k T C 3: 92,340,763 (GRCm39) probably benign Het
Spta1 G A 1: 174,039,213 (GRCm39) M1185I probably benign Het
Tent5b T C 4: 133,213,924 (GRCm39) V265A possibly damaging Het
Uaca T C 9: 60,777,173 (GRCm39) V518A probably damaging Het
Ubr3 C T 2: 69,808,118 (GRCm39) Q1200* probably null Het
Ufm1 A G 3: 53,766,702 (GRCm39) probably benign Het
Zer1 G A 2: 29,998,286 (GRCm39) L342F probably damaging Het
Zfp142 G A 1: 74,609,778 (GRCm39) T1236I probably benign Het
Zfp236 A G 18: 82,651,234 (GRCm39) Y845H probably damaging Het
Zfp747l1 A T 7: 126,984,641 (GRCm39) C154S possibly damaging Het
Zfp787 T C 7: 6,135,763 (GRCm39) K163E possibly damaging Het
Other mutations in Ipmk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01382:Ipmk APN 10 71,212,596 (GRCm39) missense probably damaging 0.99
IGL01524:Ipmk APN 10 71,208,631 (GRCm39) missense probably damaging 1.00
IGL01872:Ipmk APN 10 71,208,706 (GRCm39) missense probably damaging 1.00
I1329:Ipmk UTSW 10 71,217,277 (GRCm39) missense possibly damaging 0.46
R0282:Ipmk UTSW 10 71,208,661 (GRCm39) missense probably benign 0.06
R1477:Ipmk UTSW 10 71,217,607 (GRCm39) missense probably damaging 1.00
R1759:Ipmk UTSW 10 71,217,133 (GRCm39) missense probably damaging 1.00
R2070:Ipmk UTSW 10 71,208,579 (GRCm39) nonsense probably null
R2160:Ipmk UTSW 10 71,217,256 (GRCm39) missense probably benign 0.00
R2520:Ipmk UTSW 10 71,217,047 (GRCm39) missense probably damaging 1.00
R4570:Ipmk UTSW 10 71,208,569 (GRCm39) missense probably benign 0.04
R5522:Ipmk UTSW 10 71,199,304 (GRCm39) missense probably benign 0.30
R6941:Ipmk UTSW 10 71,183,920 (GRCm39) missense probably null 1.00
R7198:Ipmk UTSW 10 71,183,882 (GRCm39) missense probably damaging 1.00
R7203:Ipmk UTSW 10 71,199,298 (GRCm39) missense possibly damaging 0.67
R7414:Ipmk UTSW 10 71,217,124 (GRCm39) missense probably damaging 0.98
R8968:Ipmk UTSW 10 71,199,333 (GRCm39) missense probably damaging 1.00
R9422:Ipmk UTSW 10 71,212,550 (GRCm39) missense possibly damaging 0.61
R9469:Ipmk UTSW 10 71,201,843 (GRCm39) missense probably damaging 0.98
R9776:Ipmk UTSW 10 71,217,439 (GRCm39) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- ACCAGTAAAAGCTTTCCGTCTATG -3'
(R):5'- CTAACTTAGCATTTCTGAGAGTGAC -3'

Sequencing Primer
(F):5'- TCCGTCTATGAAAGAGGTTGCCC -3'
(R):5'- AGTGACAAACTCTCTCTGTTGAGTG -3'
Posted On 2014-08-25