Incidental Mutation 'R6119:Ip6k3'
ID 485687
Institutional Source Beutler Lab
Gene Symbol Ip6k3
Ensembl Gene ENSMUSG00000024210
Gene Name inositol hexaphosphate kinase 3
Synonyms Ihpk3, D830007E07Rik
MMRRC Submission 044429-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.124) question?
Stock # R6119 (G1)
Quality Score 147.008
Status Validated
Chromosome 17
Chromosomal Location 27362945-27386738 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 27367599 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 199 (V199A)
Ref Sequence ENSEMBL: ENSMUSP00000025046 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025046]
AlphaFold Q8BWD2
Predicted Effect possibly damaging
Transcript: ENSMUST00000025046
AA Change: V199A

PolyPhen 2 Score 0.724 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000025046
Gene: ENSMUSG00000024210
AA Change: V199A

DomainStartEndE-ValueType
Pfam:IPK 193 390 3e-68 PFAM
Meta Mutation Damage Score 0.6169 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 93.2%
Validation Efficiency 100% (53/53)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310022A10Rik C T 7: 27,265,138 (GRCm39) R97* probably null Het
4930544D05Rik G A 11: 70,507,317 (GRCm39) A121T probably damaging Het
Abtb2 A T 2: 103,532,655 (GRCm39) E484D probably benign Het
Ankk1 A T 9: 49,338,183 (GRCm39) W37R possibly damaging Het
Arhgap11a C A 2: 113,664,695 (GRCm39) M529I probably benign Het
Btd G A 14: 31,363,065 (GRCm39) probably benign Het
Ddx47 T C 6: 135,000,318 (GRCm39) I438T probably benign Het
Dnhd1 A G 7: 105,358,647 (GRCm39) T3379A probably benign Het
Dusp3 A G 11: 101,871,495 (GRCm39) probably benign Het
Dync1h1 A G 12: 110,594,440 (GRCm39) K1289E possibly damaging Het
Egf A T 3: 129,530,421 (GRCm39) I247N probably benign Het
Erich1 A G 8: 14,083,692 (GRCm39) L126P probably benign Het
Fat3 T A 9: 16,287,864 (GRCm39) H553L possibly damaging Het
Gdpgp1 T C 7: 79,888,740 (GRCm39) L257P probably damaging Het
Gimap8 T C 6: 48,635,888 (GRCm39) I551T possibly damaging Het
Gnptab C A 10: 88,267,257 (GRCm39) D449E probably damaging Het
Grb10 T C 11: 11,883,551 (GRCm39) D513G probably damaging Het
Grin1 T G 2: 25,195,170 (GRCm39) D283A probably damaging Het
Gtf2i A T 5: 134,315,911 (GRCm39) probably null Het
Kif17 T A 4: 138,015,643 (GRCm39) Y405* probably null Het
Lair1 T C 7: 4,031,895 (GRCm39) M71V probably benign Het
Mamdc2 G A 19: 23,330,679 (GRCm39) T376M probably damaging Het
Msra G A 14: 64,678,183 (GRCm39) R38C probably damaging Het
Mthfd1 A T 12: 76,350,447 (GRCm39) I462F probably damaging Het
Nbr1 A G 11: 101,457,938 (GRCm39) probably null Het
Neb A G 2: 52,110,943 (GRCm39) M181T probably benign Het
Noxo1 A G 17: 24,915,545 (GRCm39) probably benign Het
Optn C A 2: 5,026,134 (GRCm39) probably null Het
Or10ag58 A T 2: 87,265,733 (GRCm39) K301* probably null Het
Or4c103 A G 2: 88,513,935 (GRCm39) I47T probably damaging Het
Or5k17 A T 16: 58,746,895 (GRCm39) I13N possibly damaging Het
Or6c215 G A 10: 129,637,689 (GRCm39) A235V probably damaging Het
Or6c215 C A 10: 129,637,690 (GRCm39) A235S probably damaging Het
Pclo A G 5: 14,727,033 (GRCm39) probably benign Het
Ppp1r16b A G 2: 158,593,047 (GRCm39) I209V probably benign Het
Prss12 A G 3: 123,283,258 (GRCm39) I517V possibly damaging Het
Pwwp3a A G 10: 80,064,865 (GRCm39) K32E probably benign Het
Ripor2 C T 13: 24,798,627 (GRCm39) probably benign Het
Rmnd5b A G 11: 51,516,536 (GRCm39) S274P probably benign Het
Sftpa1 T A 14: 40,854,509 (GRCm39) I32N probably damaging Het
Slc2a12 T A 10: 22,541,246 (GRCm39) I367N probably damaging Het
Sorcs1 T C 19: 50,276,532 (GRCm39) D340G probably damaging Het
Synj1 T C 16: 90,735,877 (GRCm39) K1359E probably benign Het
Tasor2 C T 13: 3,631,891 (GRCm39) R870H possibly damaging Het
Tcf12 T A 9: 71,775,547 (GRCm39) E421V probably damaging Het
Tecta A T 9: 42,284,371 (GRCm39) F905I probably benign Het
Tmem106a T A 11: 101,474,576 (GRCm39) C58* probably null Het
Tmem131l A T 3: 83,805,689 (GRCm39) F1585I probably damaging Het
Tnks2 T C 19: 36,856,752 (GRCm39) S208P possibly damaging Het
Trim50 A G 5: 135,382,274 (GRCm39) N42S probably benign Het
Tsc22d2 T A 3: 58,367,674 (GRCm39) probably benign Het
Ttll3 T A 6: 113,371,702 (GRCm39) L23H probably damaging Het
Vmn1r10 A G 6: 57,091,218 (GRCm39) Y270C probably benign Het
Ypel3 T C 7: 126,377,537 (GRCm39) V74A possibly damaging Het
Zfp677 A G 17: 21,618,070 (GRCm39) T376A possibly damaging 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
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
R7811:Ip6k3 UTSW 17 27,376,557 (GRCm39) nonsense probably null
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'- TGAGAGTGTGGTAGACCTACGG -3'
(R):5'- ATGGACTTATTAAAGCGGGCTG -3'

Sequencing Primer
(F):5'- TGGTAGACCTACGGGGATGC -3'
(R):5'- CTGACTGACGACCTCAG -3'
Posted On 2017-08-16