Incidental Mutation 'R6082:Idi1'
ID 482253
Institutional Source Beutler Lab
Gene Symbol Idi1
Ensembl Gene ENSMUSG00000058258
Gene Name isopentenyl-diphosphate delta isomerase
Synonyms 4832416K17Rik
MMRRC Submission 044241-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6082 (G1)
Quality Score 148.008
Status Not validated
Chromosome 13
Chromosomal Location 8935642-8942432 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 8940506 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 229 (Y229*)
Ref Sequence ENSEMBL: ENSMUSP00000132780 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000169314]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000169314
AA Change: Y229*
SMART Domains Protein: ENSMUSP00000132780
Gene: ENSMUSG00000058258
AA Change: Y229*

DomainStartEndE-ValueType
Pfam:NUDIX 106 256 1.2e-29 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176851
Predicted Effect probably benign
Transcript: ENSMUST00000177397
Predicted Effect probably benign
Transcript: ENSMUST00000177400
Predicted Effect probably benign
Transcript: ENSMUST00000177447
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221551
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.4%
Validation Efficiency
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A830018L16Rik T C 1: 11,868,752 (GRCm39) I344T probably benign Het
Adamts19 G A 18: 59,101,846 (GRCm39) A639T probably benign Het
Adamts9 T C 6: 92,866,930 (GRCm39) D122G probably damaging Het
Bin2 A G 15: 100,543,029 (GRCm39) S358P possibly damaging Het
Bora A T 14: 99,299,730 (GRCm39) Q234L possibly damaging Het
Btaf1 C T 19: 36,960,942 (GRCm39) R772C probably damaging Het
Cenpf T C 1: 189,390,301 (GRCm39) E1177G probably benign Het
Clec4b2 A T 6: 123,181,100 (GRCm39) probably null Het
Dedd2 G A 7: 24,910,715 (GRCm39) P154S probably benign Het
Dennd5b A G 6: 148,970,193 (GRCm39) S87P probably damaging Het
Dhx8 C T 11: 101,655,139 (GRCm39) R1050W probably damaging Het
Eif3a T C 19: 60,760,568 (GRCm39) K682R possibly damaging Het
Eif4e2 G T 1: 87,153,956 (GRCm39) probably null Het
Ephb1 T C 9: 101,848,303 (GRCm39) D665G probably damaging Het
Gbp7 G A 3: 142,251,697 (GRCm39) V515M probably benign Het
Hnrnpdl C T 5: 100,184,340 (GRCm39) G398S probably null Het
Hook3 C A 8: 26,600,813 (GRCm39) A32S probably benign Het
Hoxb4 T C 11: 96,209,359 (GRCm39) probably benign Het
Lpl A T 8: 69,349,301 (GRCm39) I276F probably damaging Het
Ltbp4 T C 7: 27,035,105 (GRCm39) probably benign Het
Mphosph8 A G 14: 56,905,998 (GRCm39) I64V probably damaging Het
Mroh1 A G 15: 76,314,423 (GRCm39) D700G probably benign Het
Myt1l G A 12: 29,882,331 (GRCm39) G509R unknown Het
Myt1l T C 12: 29,892,518 (GRCm39) Y52H probably damaging Het
Nlrp9a T A 7: 26,267,402 (GRCm39) D777E probably benign Het
Nudt4 A G 10: 95,387,318 (GRCm39) I82T probably benign Het
Nwd2 T C 5: 63,962,374 (GRCm39) C653R possibly damaging Het
Obscn A G 11: 58,890,393 (GRCm39) Y7380H unknown Het
Or13a18 A G 7: 140,190,594 (GRCm39) T172A probably benign Het
Or8b3b C A 9: 38,583,866 (GRCm39) R291S probably damaging Het
Or8j3 A C 2: 86,028,661 (GRCm39) V145G probably damaging Het
Or8s8 C T 15: 98,354,647 (GRCm39) A152V probably damaging Het
Ptk2 A T 15: 73,148,714 (GRCm39) M409K probably damaging Het
Ptpn11 T C 5: 121,292,589 (GRCm39) T253A probably benign Het
Rabl6 C T 2: 25,473,837 (GRCm39) probably benign Het
Rnf14 T C 18: 38,434,723 (GRCm39) S57P possibly damaging Het
Scnm1 T C 3: 95,037,596 (GRCm39) I157V probably benign Het
Slco1b2 A C 6: 141,609,396 (GRCm39) I269L probably benign Het
Smchd1 A G 17: 71,656,714 (GRCm39) Y1918H probably benign Het
Spag17 A T 3: 100,031,501 (GRCm39) I2255F possibly damaging Het
Spata31g1 A G 4: 42,972,511 (GRCm39) M615V probably benign Het
Tnnt2 A G 1: 135,777,172 (GRCm39) M199V probably benign Het
Tymp GC GCC 15: 89,258,567 (GRCm39) probably null Het
Vmn2r73 T A 7: 85,507,429 (GRCm39) I628L probably benign Het
Zc2hc1b C A 10: 13,047,055 (GRCm39) E19* probably null 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
R5081:Idi1 UTSW 13 8,937,963 (GRCm39) nonsense probably null
R6062:Idi1 UTSW 13 8,937,541 (GRCm39) missense probably damaging 1.00
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'- TGTCACGAGTCAGTTTTCCC -3'
(R):5'- ACCTATGTATCATATAAGAGGGCCC -3'

Sequencing Primer
(F):5'- CCTCCTGAGTACTGGGATTAAAGAC -3'
(R):5'- ATATAAGAGGGCCCAATTTAAAACC -3'
Posted On 2017-07-14