Incidental Mutation 'R1371:Ip6k1'
ID 157323
Institutional Source Beutler Lab
Gene Symbol Ip6k1
Ensembl Gene ENSMUSG00000032594
Gene Name inositol hexaphosphate kinase 1
Synonyms InsP6k1, Ihpk1, InsP6, 1200016D08Rik
MMRRC Submission 039435-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.367) question?
Stock # R1371 (G1)
Quality Score 141
Status Validated
Chromosome 9
Chromosomal Location 107879847-107925981 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 107923022 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 385 (V385M)
Ref Sequence ENSEMBL: ENSMUSP00000035214 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035214] [ENSMUST00000047947] [ENSMUST00000112295] [ENSMUST00000177158] [ENSMUST00000176566] [ENSMUST00000164395] [ENSMUST00000175874]
AlphaFold Q6PD10
Predicted Effect probably damaging
Transcript: ENSMUST00000035214
AA Change: V385M

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000035214
Gene: ENSMUSG00000032594
AA Change: V385M

DomainStartEndE-ValueType
low complexity region 114 129 N/A INTRINSIC
Pfam:IPK 207 426 2.2e-67 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000047947
SMART Domains Protein: ENSMUSP00000036898
Gene: ENSMUSG00000070284

DomainStartEndE-ValueType
Pfam:NTP_transferase 2 234 8e-48 PFAM
Pfam:NTP_transf_3 3 202 6.6e-12 PFAM
Pfam:Hexapep 259 294 1.8e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000112295
SMART Domains Protein: ENSMUSP00000107914
Gene: ENSMUSG00000070284

DomainStartEndE-ValueType
Pfam:NTP_transferase 2 235 2.1e-51 PFAM
Pfam:NTP_transf_3 3 199 1.1e-11 PFAM
Pfam:Hexapep 259 294 9.4e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137284
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145330
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150700
Predicted Effect noncoding transcript
Transcript: ENSMUST00000167159
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177396
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176454
Predicted Effect probably benign
Transcript: ENSMUST00000177158
SMART Domains Protein: ENSMUSP00000134754
Gene: ENSMUSG00000032594

DomainStartEndE-ValueType
low complexity region 15 30 N/A INTRINSIC
Pfam:IPK 108 206 1.5e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000176566
Predicted Effect probably benign
Transcript: ENSMUST00000176613
Predicted Effect probably benign
Transcript: ENSMUST00000164395
Predicted Effect probably benign
Transcript: ENSMUST00000175874
SMART Domains Protein: ENSMUSP00000135747
Gene: ENSMUSG00000032594

DomainStartEndE-ValueType
low complexity region 114 129 N/A INTRINSIC
Meta Mutation Damage Score 0.7788 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.7%
  • 10x: 94.7%
  • 20x: 89.0%
Validation Efficiency 100% (55/55)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b T A 11: 109,844,379 (GRCm39) D884V probably damaging Het
Acvr2a C T 2: 48,789,628 (GRCm39) T457M probably damaging Het
Akr1b10 C T 6: 34,369,394 (GRCm39) T208I probably benign Het
Aldh16a1 G T 7: 44,796,674 (GRCm39) T275K possibly damaging Het
Alkbh2 C T 5: 114,262,287 (GRCm39) E148K probably damaging Het
Asgr1 T G 11: 69,946,923 (GRCm39) C56W probably benign Het
Atp11b T C 3: 35,860,918 (GRCm39) I335T probably damaging Het
BC061237 A G 14: 44,741,762 (GRCm39) probably benign Het
Bdh1 G T 16: 31,275,720 (GRCm39) K280N probably benign Het
Bmp1 C T 14: 70,729,906 (GRCm39) C466Y probably damaging Het
Ccdc181 A G 1: 164,108,172 (GRCm39) E285G probably benign Het
Ces1f C T 8: 94,006,277 (GRCm39) G18R probably damaging Het
Cfap43 T A 19: 47,824,045 (GRCm39) I109L possibly damaging Het
Cma2 T C 14: 56,210,283 (GRCm39) L56S probably damaging Het
Edc4 A G 8: 106,617,382 (GRCm39) probably benign Het
F3 T C 3: 121,526,159 (GRCm39) C241R probably damaging Het
Fhdc1 T A 3: 84,352,310 (GRCm39) S972C probably damaging Het
Heatr1 T G 13: 12,432,513 (GRCm39) I1086R possibly damaging Het
Hsh2d A T 8: 72,950,738 (GRCm39) probably benign Het
Ice1 T C 13: 70,744,340 (GRCm39) Y2081C probably damaging Het
Il1rl1 A G 1: 40,481,873 (GRCm39) N194D probably damaging Het
Lig1 G A 7: 13,022,611 (GRCm39) R147Q probably damaging Het
Lrp1b C T 2: 40,537,165 (GRCm39) V41I probably damaging Het
Macroh2a2 A T 10: 61,585,112 (GRCm39) D177E possibly damaging Het
Mst1r T A 9: 107,794,424 (GRCm39) V1201E probably damaging Het
Myof T C 19: 37,892,116 (GRCm39) probably benign Het
Nbas G T 12: 13,532,379 (GRCm39) probably benign Het
Ndst1 A G 18: 60,840,719 (GRCm39) I321T possibly damaging Het
Nek10 G A 14: 14,850,983 (GRCm38) G343R probably damaging Het
Or2a7 A T 6: 43,151,234 (GRCm39) T105S probably benign Het
Or2y1 T A 11: 49,385,650 (GRCm39) C97S probably damaging Het
Or4d2b A T 11: 87,780,122 (GRCm39) I200N probably damaging Het
Pde4d T C 13: 109,253,595 (GRCm39) S141P probably benign Het
Pigm A T 1: 172,204,381 (GRCm39) Q39L probably damaging Het
Prl7a2 T A 13: 27,846,750 (GRCm39) I88F probably benign Het
Prss16 T A 13: 22,192,856 (GRCm39) probably benign Het
Psmc4 G A 7: 27,742,222 (GRCm39) probably benign Het
Ptger3 T A 3: 157,273,365 (GRCm39) C237* probably null Het
Recql G A 6: 142,318,601 (GRCm39) T214M probably damaging Het
Rfx7 T A 9: 72,526,857 (GRCm39) V1349D probably damaging Het
Ros1 A G 10: 51,964,041 (GRCm39) S1740P probably damaging Het
Rrm2b A T 15: 37,947,053 (GRCm39) S83T probably benign Het
Sall4 A G 2: 168,598,394 (GRCm39) Y149H probably benign Het
Smad1 A G 8: 80,076,207 (GRCm39) probably benign Het
Snrnp70 T C 7: 45,030,129 (GRCm39) probably benign Het
Spef2 C A 15: 9,725,194 (GRCm39) probably benign Het
Sptlc1 T C 13: 53,505,660 (GRCm39) T253A probably benign Het
Zbbx T C 3: 74,959,784 (GRCm39) Y595C possibly damaging Het
Zfp382 T C 7: 29,833,114 (GRCm39) V255A probably benign 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
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
R6921:Ip6k1 UTSW 9 107,901,634 (GRCm39) missense probably damaging 1.00
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'- AGCCAATCCTGAGCAAACTGCG -3'
(R):5'- AGCAAGTTCAGAGCAATGGTCCC -3'

Sequencing Primer
(F):5'- TCAAAGCCGTACTGGAGC -3'
(R):5'- AGCAATGGTCCCTGCCTG -3'
Posted On 2014-02-18