Incidental Mutation 'R6921:Ip6k1'
ID 539649
Institutional Source Beutler Lab
Gene Symbol Ip6k1
Ensembl Gene ENSMUSG00000032594
Gene Name inositol hexaphosphate kinase 1
Synonyms InsP6k1, Ihpk1, InsP6, 1200016D08Rik
MMRRC Submission 045006-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.367) question?
Stock # R6921 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 107879847-107925981 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 107901634 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 70 (T70A)
Ref Sequence ENSEMBL: ENSMUSP00000135747 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035214] [ENSMUST00000164395] [ENSMUST00000175874] [ENSMUST00000176356] [ENSMUST00000176566] [ENSMUST00000176854]
AlphaFold Q6PD10
Predicted Effect probably damaging
Transcript: ENSMUST00000035214
AA Change: T70A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000035214
Gene: ENSMUSG00000032594
AA Change: T70A

DomainStartEndE-ValueType
low complexity region 114 129 N/A INTRINSIC
Pfam:IPK 207 426 2.2e-67 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000164395
AA Change: T70A

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000175874
AA Change: T70A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000135747
Gene: ENSMUSG00000032594
AA Change: T70A

DomainStartEndE-ValueType
low complexity region 114 129 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000176356
Predicted Effect probably benign
Transcript: ENSMUST00000176459
Predicted Effect probably benign
Transcript: ENSMUST00000176566
Predicted Effect possibly damaging
Transcript: ENSMUST00000176854
AA Change: T70A

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000141232
Gene: ENSMUSG00000032594
AA Change: T70A

DomainStartEndE-ValueType
low complexity region 114 129 N/A INTRINSIC
Meta Mutation Damage Score 0.0915 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.8%
  • 10x: 98.9%
  • 20x: 96.4%
Validation Efficiency 96% (46/48)
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 may be 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. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jun 2011]
PHENOTYPE: Homozygous mutation of this gene results in impaired glucose tolerance, decreased insulin levels, bilateral epididymal aspermia, and testicular degeneration in males. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik A T 9: 57,166,019 (GRCm39) H118Q probably damaging Het
Adgrl3 T G 5: 81,796,560 (GRCm39) V623G probably damaging Het
B9d2 A G 7: 25,385,442 (GRCm39) D84G probably damaging Het
Clec1a A T 6: 129,405,827 (GRCm39) L268H probably damaging Het
Copa A T 1: 171,939,491 (GRCm39) N576I possibly damaging Het
Cyp11b1 T C 15: 74,712,798 (GRCm39) T88A probably benign Het
Dis3l2 T C 1: 86,785,063 (GRCm39) I318T probably benign Het
Dmtf1 T C 5: 9,180,654 (GRCm39) probably benign Het
Dnah17 C A 11: 117,932,310 (GRCm39) A3639S probably damaging Het
Dnajc8 T A 4: 132,272,031 (GRCm39) I89N probably damaging Het
Dync2h1 T A 9: 7,102,549 (GRCm39) H377L probably benign Het
Erfe T A 1: 91,298,054 (GRCm39) I212N probably benign Het
Fam117b A G 1: 59,992,094 (GRCm39) T248A probably damaging Het
Fbxo10 A T 4: 45,044,849 (GRCm39) N595K probably damaging Het
Fzd10 T A 5: 128,678,646 (GRCm39) M122K probably damaging Het
Gpr15 C T 16: 58,538,144 (GRCm39) R315H probably benign Het
Gvin2 G A 7: 105,551,187 (GRCm39) Q622* probably null Het
H6pd T C 4: 150,066,508 (GRCm39) D626G probably damaging Het
Hexd A G 11: 121,113,107 (GRCm39) D514G probably damaging Het
Hoxd4 T C 2: 74,558,836 (GRCm39) S220P possibly damaging Het
Invs A G 4: 48,396,260 (GRCm39) H311R possibly damaging Het
Lipt2 T C 7: 99,809,578 (GRCm39) C222R probably damaging Het
Lrrc3 T A 10: 77,736,866 (GRCm39) D190V probably damaging Het
Marchf10 T C 11: 105,280,603 (GRCm39) T561A probably benign Het
Mcm10 G A 2: 5,005,746 (GRCm39) T463I probably benign Het
Mideas A G 12: 84,203,233 (GRCm39) S890P probably damaging Het
Mmel1 T C 4: 154,966,134 (GRCm39) L52P probably damaging Het
Nipbl T C 15: 8,332,969 (GRCm39) N2218S probably benign Het
Nr4a3 C T 4: 48,051,486 (GRCm39) P80L probably benign Het
Nrip1 C T 16: 76,089,476 (GRCm39) G694R possibly damaging Het
Oit3 A T 10: 59,271,767 (GRCm39) C197S probably damaging Het
Or5al1 C T 2: 85,990,196 (GRCm39) V173M probably benign Het
Or8b1b A G 9: 38,375,543 (GRCm39) I69V probably benign Het
Otol1 A G 3: 69,935,433 (GRCm39) E475G possibly damaging Het
Pes1 T C 11: 3,923,330 (GRCm39) F168L probably damaging Het
Plch1 C T 3: 63,615,155 (GRCm39) R780H possibly damaging Het
Pxdn C G 12: 30,065,504 (GRCm39) P1275A probably damaging Het
Sgcz T C 8: 37,993,443 (GRCm39) E218G probably damaging Het
Slc27a5 A T 7: 12,725,135 (GRCm39) N437K probably damaging Het
Sult2b1 A G 7: 45,384,612 (GRCm39) S155P probably damaging Het
Tgfbrap1 T C 1: 43,091,056 (GRCm39) M690V probably benign Het
Tmem151a A T 19: 5,133,119 (GRCm39) L29Q probably damaging Het
Tmprss2 A G 16: 97,369,637 (GRCm39) I379T probably damaging Het
Vmn1r168 T A 7: 23,240,323 (GRCm39) V60E probably damaging Het
Vmn2r73 A C 7: 85,507,446 (GRCm39) V622G probably benign Het
Wdr72 A G 9: 74,117,928 (GRCm39) H880R probably benign Het
Zfhx3 A G 8: 109,678,024 (GRCm39) T3025A possibly damaging Het
Other mutations in Ip6k1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01286:Ip6k1 APN 9 107,923,082 (GRCm39) missense probably benign 0.01
R0147:Ip6k1 UTSW 9 107,923,093 (GRCm39) missense probably damaging 1.00
R1371:Ip6k1 UTSW 9 107,923,022 (GRCm39) missense probably damaging 0.96
R1530:Ip6k1 UTSW 9 107,922,761 (GRCm39) nonsense probably null
R1716:Ip6k1 UTSW 9 107,918,195 (GRCm39) missense possibly damaging 0.89
R1717:Ip6k1 UTSW 9 107,918,195 (GRCm39) missense possibly damaging 0.89
R1718:Ip6k1 UTSW 9 107,918,195 (GRCm39) missense possibly damaging 0.89
R1719:Ip6k1 UTSW 9 107,918,195 (GRCm39) missense possibly damaging 0.89
R1741:Ip6k1 UTSW 9 107,918,183 (GRCm39) missense probably benign 0.43
R1745:Ip6k1 UTSW 9 107,918,195 (GRCm39) missense possibly damaging 0.89
R1747:Ip6k1 UTSW 9 107,918,195 (GRCm39) missense possibly damaging 0.89
R1901:Ip6k1 UTSW 9 107,918,195 (GRCm39) missense possibly damaging 0.89
R1902:Ip6k1 UTSW 9 107,918,195 (GRCm39) missense possibly damaging 0.89
R1903:Ip6k1 UTSW 9 107,918,195 (GRCm39) missense possibly damaging 0.89
R1962:Ip6k1 UTSW 9 107,918,287 (GRCm39) critical splice donor site probably null
R2126:Ip6k1 UTSW 9 107,918,195 (GRCm39) missense possibly damaging 0.89
R3809:Ip6k1 UTSW 9 107,923,086 (GRCm39) missense probably damaging 1.00
R5000:Ip6k1 UTSW 9 107,922,798 (GRCm39) nonsense probably null
R6074:Ip6k1 UTSW 9 107,901,308 (GRCm39) utr 5 prime probably benign
R7069:Ip6k1 UTSW 9 107,922,651 (GRCm39) splice site probably null
R7154:Ip6k1 UTSW 9 107,922,861 (GRCm39) missense probably damaging 1.00
R7218:Ip6k1 UTSW 9 107,922,781 (GRCm39) missense unknown
R7330:Ip6k1 UTSW 9 107,922,452 (GRCm39) missense possibly damaging 0.56
R7731:Ip6k1 UTSW 9 107,921,927 (GRCm39) missense probably damaging 1.00
R7736:Ip6k1 UTSW 9 107,922,891 (GRCm39) missense probably damaging 1.00
R7765:Ip6k1 UTSW 9 107,909,288 (GRCm39) missense possibly damaging 0.52
R7941:Ip6k1 UTSW 9 107,901,631 (GRCm39) missense probably damaging 1.00
R8221:Ip6k1 UTSW 9 107,923,115 (GRCm39) missense probably benign 0.40
R8383:Ip6k1 UTSW 9 107,921,926 (GRCm39) missense possibly damaging 0.81
R8815:Ip6k1 UTSW 9 107,918,211 (GRCm39) missense probably benign 0.38
X0021:Ip6k1 UTSW 9 107,909,389 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TCAAACCATGGAAGTGGGGC -3'
(R):5'- GGACAATAGGCTTTTCTCCACC -3'

Sequencing Primer
(F):5'- CCATGGAAGTGGGGCAGTATG -3'
(R):5'- TGGGTCTACCTAATGTCAATTTTTC -3'
Posted On 2018-11-06