Incidental Mutation 'R5081:Idi1'
ID 387144
Institutional Source Beutler Lab
Gene Symbol Idi1
Ensembl Gene ENSMUSG00000058258
Gene Name isopentenyl-diphosphate delta isomerase
Synonyms 4832416K17Rik
MMRRC Submission 042670-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5081 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 8935642-8942432 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 8937963 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 91 (C91*)
Gene Model predicted gene model for transcript(s): [ENSMUST00000169314]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000169314
AA Change: C136*
SMART Domains Protein: ENSMUSP00000132780
Gene: ENSMUSG00000058258
AA Change: C136*

DomainStartEndE-ValueType
Pfam:NUDIX 106 256 1.2e-29 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176851
Predicted Effect probably null
Transcript: ENSMUST00000177397
AA Change: C108*
Predicted Effect probably null
Transcript: ENSMUST00000177400
AA Change: C91*
Predicted Effect probably null
Transcript: ENSMUST00000177447
AA Change: C91*
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221551
Meta Mutation Damage Score 0.9754 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.2%
Validation Efficiency 93% (65/70)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] IDI1 encodes a peroxisomally-localized enzyme that catalyzes the interconversion of isopentenyl diphosphate (IPP) to its highly electrophilic isomer, dimethylallyl diphosphate (DMAPP), which are the substrates for the successive reaction that results in the synthesis of farnesyl diphosphate and, ultimately, cholesterol. It has been shown in peroxisomal deficiency diseases such as Zellweger syndrome and neonatal adrenoleukodystrophy that there is reduction in IPP isomerase activity. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agbl5 G A 5: 31,060,403 (GRCm39) R141Q probably damaging Het
AI593442 TGAGGAGGAGGAGGAGGA TGAGGAGGAGGAGGA 9: 52,589,114 (GRCm39) probably benign Het
Aig1 A G 10: 13,677,644 (GRCm39) I116T probably benign Het
Alox12 A T 11: 70,146,140 (GRCm39) probably null Het
Ap3s1 T A 18: 46,887,497 (GRCm39) D43E probably benign Het
Arhgap35 A G 7: 16,299,059 (GRCm39) M2T possibly damaging Het
Asah2 T A 19: 31,991,708 (GRCm39) E451V probably benign Het
Ash1l T G 3: 88,892,024 (GRCm39) I1301S probably damaging Het
Ass1 G A 2: 31,378,665 (GRCm39) probably null Het
Ccpg1 A G 9: 72,906,360 (GRCm39) T39A possibly damaging Het
Cd101 T A 3: 100,911,021 (GRCm39) Y879F possibly damaging Het
Cdc23 C A 18: 34,784,742 (GRCm39) V7L unknown Het
Cdh23 T C 10: 60,272,586 (GRCm39) T530A possibly damaging Het
Cep68 G T 11: 20,188,477 (GRCm39) Q643K probably damaging Het
Ces1c A G 8: 93,854,197 (GRCm39) S113P probably damaging Het
Cnga4 T C 7: 105,056,232 (GRCm39) I278T probably benign Het
Col1a1 A G 11: 94,842,402 (GRCm39) D1440G unknown Het
Cspp1 A G 1: 10,117,691 (GRCm39) I48V possibly damaging Het
Ctsj T A 13: 61,151,664 (GRCm39) S85C possibly damaging Het
Cyp39a1 C A 17: 44,057,488 (GRCm39) D442E probably damaging Het
Dock3 A T 9: 106,868,292 (GRCm39) F664Y probably damaging Het
Gpcpd1 A T 2: 132,389,622 (GRCm39) H244Q probably benign Het
Gtf3a T A 5: 146,888,092 (GRCm39) V131E probably benign Het
Gtpbp3 A T 8: 71,943,026 (GRCm39) R147W probably damaging Het
H2-Oa A T 17: 34,313,344 (GRCm39) I132F probably damaging Het
Hsd17b8 G A 17: 34,246,552 (GRCm39) probably benign Het
Itga11 A G 9: 62,662,478 (GRCm39) I484V probably benign Het
Kpna3 C T 14: 61,628,694 (GRCm39) S101N probably damaging Het
Larp4 G A 15: 99,870,898 (GRCm39) probably benign Het
Mink1 T C 11: 70,495,970 (GRCm39) L390P probably damaging Het
Morc1 T G 16: 48,322,715 (GRCm39) S337R probably benign Het
Myo10 A G 15: 25,786,026 (GRCm39) R1236G probably damaging Het
Nkx3-1 T C 14: 69,429,396 (GRCm39) I138T possibly damaging Het
Nnt T C 13: 119,502,936 (GRCm39) N489S probably damaging Het
Nrcam A T 12: 44,617,136 (GRCm39) I711F probably benign Het
Ntrk3 A G 7: 78,227,522 (GRCm39) S4P probably damaging Het
Obsl1 T C 1: 75,464,607 (GRCm39) T1605A possibly damaging Het
Or1j17 A G 2: 36,578,655 (GRCm39) I214V possibly damaging Het
Or7g32 A G 9: 19,408,557 (GRCm39) E171G probably benign Het
Pank1 T C 19: 34,856,316 (GRCm39) H54R probably benign Het
Pgm2l1 A G 7: 99,917,472 (GRCm39) I530V probably benign Het
Psmd2 A G 16: 20,480,405 (GRCm39) T709A probably benign Het
Qsox1 G T 1: 155,688,581 (GRCm39) probably benign Het
Rbm14 A G 19: 4,852,823 (GRCm39) S520P probably benign Het
Rbm15b G A 9: 106,762,120 (GRCm39) R683C probably benign Het
Rhbdd2 T A 5: 135,664,876 (GRCm39) V69D probably damaging Het
Sart1 T C 19: 5,438,576 (GRCm39) E27G possibly damaging Het
Scn4a G A 11: 106,239,553 (GRCm39) P153L probably damaging Het
Serpinb6d A T 13: 33,855,230 (GRCm39) R301S probably benign Het
Sf3a2 C A 10: 80,640,275 (GRCm39) probably benign Het
Syne1 T C 10: 4,997,767 (GRCm39) D400G probably benign Het
Tenm2 T C 11: 35,915,460 (GRCm39) S2025G possibly damaging Het
Ttc16 A T 2: 32,657,988 (GRCm39) D476E probably damaging Het
Ttc9c A T 19: 8,793,396 (GRCm39) C81* probably null Het
Ulk2 G A 11: 61,694,488 (GRCm39) P474L probably damaging Het
Vmn1r66 A G 7: 10,008,722 (GRCm39) C104R probably damaging Het
Vwa2 C T 19: 56,897,752 (GRCm39) H686Y probably damaging Het
Other mutations in Idi1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01465:Idi1 APN 13 8,940,415 (GRCm39) missense probably benign 0.12
R0304:Idi1 UTSW 13 8,940,393 (GRCm39) missense probably damaging 1.00
R1535:Idi1 UTSW 13 8,936,945 (GRCm39) splice site probably benign
R1739:Idi1 UTSW 13 8,940,447 (GRCm39) missense probably benign 0.05
R3854:Idi1 UTSW 13 8,935,968 (GRCm39) missense probably benign 0.05
R3855:Idi1 UTSW 13 8,935,968 (GRCm39) missense probably benign 0.05
R3856:Idi1 UTSW 13 8,935,968 (GRCm39) missense probably benign 0.05
R4463:Idi1 UTSW 13 8,937,508 (GRCm39) splice site probably benign
R5049:Idi1 UTSW 13 8,938,078 (GRCm39) missense probably damaging 1.00
R6062:Idi1 UTSW 13 8,937,541 (GRCm39) missense probably damaging 1.00
R6082:Idi1 UTSW 13 8,940,506 (GRCm39) nonsense probably null
R7261:Idi1 UTSW 13 8,936,931 (GRCm39) missense probably benign 0.31
R7956:Idi1 UTSW 13 8,937,996 (GRCm39) missense possibly damaging 0.93
R8017:Idi1 UTSW 13 8,937,974 (GRCm39) missense probably benign 0.29
Z1177:Idi1 UTSW 13 8,938,055 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- AGGTAGAGTTTGCTGGGAAC -3'
(R):5'- CTGAGTTTAGGCTGCAGACTG -3'

Sequencing Primer
(F):5'- GCTGGGAACTATTTAATCCGACTG -3'
(R):5'- TAGGCTGCAGACTGTGTAATAG -3'
Posted On 2016-06-06