Incidental Mutation 'R7811:Ip6k3'
ID 601192
Institutional Source Beutler Lab
Gene Symbol Ip6k3
Ensembl Gene ENSMUSG00000024210
Gene Name inositol hexaphosphate kinase 3
Synonyms Ihpk3, D830007E07Rik
MMRRC Submission 045866-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.124) question?
Stock # R7811 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 27362945-27386738 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 27376557 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 51 (Y51*)
Ref Sequence ENSEMBL: ENSMUSP00000025046 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025046]
AlphaFold Q8BWD2
Predicted Effect probably null
Transcript: ENSMUST00000025046
AA Change: Y51*
SMART Domains Protein: ENSMUSP00000025046
Gene: ENSMUSG00000024210
AA Change: Y51*

DomainStartEndE-ValueType
Pfam:IPK 193 390 3e-68 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (58/58)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the inositol phosphokinase (IPK) family. This protein is likely responsible for the conversion of inositol hexakisphosphate (InsP6) to diphosphoinositol pentakisphosphate (InsP7/PP-InsP5). It may also convert 1,3,4,5,6-pentakisphosphate (InsP5) to PP-InsP4. Alternative splicing results in multiple transcript variants encoding the same protein.[provided by RefSeq, Dec 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit altered cerebellar Purkinje cell morphology, reduced synapse number, and defects in motor learning and coordination. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,527,141 (GRCm39) probably null Het
Abca3 A G 17: 24,616,362 (GRCm39) T935A probably benign Het
Anxa7 A T 14: 20,510,254 (GRCm39) Y399N probably benign Het
Arhgef10l G T 4: 140,242,335 (GRCm39) T1030K possibly damaging Het
Ass1 G A 2: 31,404,753 (GRCm39) V345I probably benign Het
Bms1 T C 6: 118,380,099 (GRCm39) D736G probably damaging Het
Bpifb1 T A 2: 154,048,484 (GRCm39) probably null Het
Cbx4 A C 11: 118,972,398 (GRCm39) C326G probably benign Het
Ccdc188 A G 16: 18,036,314 (GRCm39) E94G probably benign Het
Cdh5 A G 8: 104,852,235 (GRCm39) T117A possibly damaging Het
Cdk11b A G 4: 155,724,359 (GRCm39) T326A unknown Het
Clec5a C T 6: 40,558,867 (GRCm39) C73Y probably damaging Het
Cntrl T C 2: 35,052,873 (GRCm39) M1126T probably benign Het
Diaph3 T C 14: 87,219,060 (GRCm39) D455G probably damaging Het
Eml2 T A 7: 18,920,047 (GRCm39) M117K probably benign Het
Ern1 A T 11: 106,325,694 (GRCm39) V112D unknown Het
Eya3 T C 4: 132,439,272 (GRCm39) I466T possibly damaging Het
Fbxl6 T C 15: 76,421,485 (GRCm39) probably null Het
Ffar1 A G 7: 30,560,802 (GRCm39) S32P possibly damaging Het
Fgb T C 3: 82,957,004 (GRCm39) D22G probably benign Het
Fsip2 T C 2: 82,828,797 (GRCm39) Y6865H possibly damaging Het
Gbx1 T C 5: 24,710,035 (GRCm39) E270G probably damaging Het
Golga4 T C 9: 118,361,643 (GRCm39) L207P probably damaging Het
Hnrnpa1 T C 15: 103,149,900 (GRCm39) S54P possibly damaging Het
Htr4 A G 18: 62,545,269 (GRCm39) E18G possibly damaging Het
Ide A C 19: 37,307,910 (GRCm39) L34R Het
Keap1 A G 9: 21,148,956 (GRCm39) L17P possibly damaging Het
Lrrn2 T C 1: 132,866,939 (GRCm39) V668A probably benign Het
Lypd8 A T 11: 58,281,064 (GRCm39) T209S possibly damaging Het
Myo10 T C 15: 25,804,610 (GRCm39) I1635T probably damaging Het
Myo1e T A 9: 70,234,544 (GRCm39) V299E probably damaging Het
Nadk A T 4: 155,661,332 (GRCm39) probably benign Het
Nalcn A T 14: 123,536,357 (GRCm39) W1231R probably damaging Het
Odf2l A G 3: 144,859,148 (GRCm39) T602A probably benign Het
Or13g1 T A 7: 85,955,554 (GRCm39) T256S probably damaging Het
Or2r3 T A 6: 42,448,635 (GRCm39) E159V probably damaging Het
Pde6c T C 19: 38,128,507 (GRCm39) V190A possibly damaging Het
Ppp4r3a C A 12: 101,019,821 (GRCm39) R378L probably damaging Het
Pus7l A C 15: 94,438,707 (GRCm39) V46G probably damaging Het
Satb2 G A 1: 56,884,880 (GRCm39) S466L probably benign Het
Serpina6 A G 12: 103,620,395 (GRCm39) M118T probably damaging Het
Slc29a1 T C 17: 45,897,189 (GRCm39) R366G probably damaging Het
Slc6a1 T C 6: 114,279,515 (GRCm39) F98S probably damaging Het
Spg7 T C 8: 123,824,164 (GRCm39) I738T possibly damaging Het
Srcap T C 7: 127,141,221 (GRCm39) V1667A probably damaging Het
Stxbp5 T C 10: 9,684,248 (GRCm39) N574S probably benign Het
Syne2 A G 12: 76,030,501 (GRCm39) probably null Het
Tbc1d10a T C 11: 4,136,948 (GRCm39) S54P possibly damaging Het
Trim12c T C 7: 103,990,469 (GRCm39) N336S unknown Het
Ubap2 T C 4: 41,211,710 (GRCm39) S351G probably benign Het
Unc13c G T 9: 73,600,553 (GRCm39) A1397E possibly damaging Het
Ush1c G A 7: 45,854,710 (GRCm39) R681* probably null Het
Vmn2r57 A T 7: 41,074,439 (GRCm39) C541* probably null Het
Vmn2r73 T C 7: 85,524,956 (GRCm39) D64G possibly damaging Het
Vmn2r88 A T 14: 51,656,160 (GRCm39) T790S Het
Zfp568 A G 7: 29,697,295 (GRCm39) T72A possibly damaging Het
Zfp950 A T 19: 61,108,353 (GRCm39) Y243* probably null Het
Zmym5 A G 14: 57,036,434 (GRCm39) S238P probably damaging Het
Zswim5 A G 4: 116,734,673 (GRCm39) E6G unknown Het
Other mutations in Ip6k3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01584:Ip6k3 APN 17 27,370,034 (GRCm39) missense probably benign
R0200:Ip6k3 UTSW 17 27,363,999 (GRCm39) missense probably damaging 1.00
R0220:Ip6k3 UTSW 17 27,364,203 (GRCm39) missense probably damaging 1.00
R1448:Ip6k3 UTSW 17 27,364,242 (GRCm39) missense possibly damaging 0.90
R1749:Ip6k3 UTSW 17 27,364,053 (GRCm39) missense probably benign 0.00
R1956:Ip6k3 UTSW 17 27,370,142 (GRCm39) missense probably benign 0.01
R1957:Ip6k3 UTSW 17 27,370,142 (GRCm39) missense probably benign 0.01
R3125:Ip6k3 UTSW 17 27,376,516 (GRCm39) missense probably damaging 1.00
R3798:Ip6k3 UTSW 17 27,364,080 (GRCm39) missense probably benign 0.01
R3806:Ip6k3 UTSW 17 27,363,974 (GRCm39) missense probably damaging 1.00
R4445:Ip6k3 UTSW 17 27,364,076 (GRCm39) missense probably benign 0.10
R4506:Ip6k3 UTSW 17 27,364,154 (GRCm39) missense possibly damaging 0.69
R4651:Ip6k3 UTSW 17 27,364,265 (GRCm39) missense probably damaging 1.00
R5972:Ip6k3 UTSW 17 27,368,934 (GRCm39) missense possibly damaging 0.48
R6119:Ip6k3 UTSW 17 27,367,599 (GRCm39) missense possibly damaging 0.72
R7140:Ip6k3 UTSW 17 27,363,969 (GRCm39) missense probably damaging 1.00
R7340:Ip6k3 UTSW 17 27,367,504 (GRCm39) missense probably benign 0.00
R9105:Ip6k3 UTSW 17 27,364,169 (GRCm39) missense probably damaging 1.00
R9653:Ip6k3 UTSW 17 27,367,588 (GRCm39) missense possibly damaging 0.95
Predicted Primers PCR Primer
(F):5'- GCGATTCAGTGAAGAAGCACC -3'
(R):5'- ACACTGGTACACACTGGCAC -3'

Sequencing Primer
(F):5'- GATTCAGTGAAGAAGCACCAGCAC -3'
(R):5'- TTTTACAGAGAAGTCAGCTGCCG -3'
Posted On 2019-11-26