Incidental Mutation 'R3854:Idi1'
ID 276081
Institutional Source Beutler Lab
Gene Symbol Idi1
Ensembl Gene ENSMUSG00000058258
Gene Name isopentenyl-diphosphate delta isomerase
Synonyms 4832416K17Rik
MMRRC Submission 041605-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3854 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 8935642-8942432 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 8935968 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 25 (A25S)
Ref Sequence ENSEMBL: ENSMUSP00000132780 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000169314]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000169314
AA Change: A25S

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000132780
Gene: ENSMUSG00000058258
AA Change: A25S

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
Meta Mutation Damage Score 0.2167 question?
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.8%
  • 10x: 97.2%
  • 20x: 94.2%
Validation Efficiency 96% (46/48)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvr1 T C 2: 58,352,946 (GRCm39) K338R probably damaging Het
Adar C T 3: 89,643,565 (GRCm39) P482L probably damaging Het
Adh5 A G 3: 138,156,776 (GRCm39) D154G probably benign Het
Apoa1 A G 9: 46,141,521 (GRCm39) S206G probably benign Het
Aspdh T C 7: 44,115,613 (GRCm39) V5A possibly damaging Het
Bend3 AAGGACCA AA 10: 43,386,713 (GRCm39) probably benign Het
C2cd3 A T 7: 100,103,808 (GRCm39) probably null Het
Ccdc87 A G 19: 4,889,546 (GRCm39) I13V probably benign Het
Cd163 A T 6: 124,288,525 (GRCm39) N319Y probably damaging Het
Cdc42bpa A G 1: 179,983,543 (GRCm39) probably benign Het
Ceacam2 T C 7: 25,238,227 (GRCm39) S66G probably benign Het
Cep131 G A 11: 119,958,011 (GRCm39) R772* probably null Het
Clhc1 T C 11: 29,521,789 (GRCm39) C441R probably damaging Het
Clstn2 G A 9: 97,345,648 (GRCm39) Q567* probably null Het
Cops7a C T 6: 124,936,795 (GRCm39) R252H probably damaging Het
Daam2 T C 17: 49,765,624 (GRCm39) N1093S probably benign Het
Dnajc16 G A 4: 141,490,964 (GRCm39) R729* probably null Het
Eml6 C T 11: 29,699,905 (GRCm39) A1744T possibly damaging Het
Fam43b G C 4: 138,122,409 (GRCm39) R304G probably benign Het
Fbll1 T A 11: 35,688,526 (GRCm39) T246S probably benign Het
Fbln2 A T 6: 91,243,353 (GRCm39) T910S probably damaging Het
Fcna C T 2: 25,517,784 (GRCm39) G22D possibly damaging Het
Gadl1 G T 9: 115,835,732 (GRCm39) E387* probably null Het
Gm5592 G A 7: 40,807,259 (GRCm39) probably benign Het
Gpr82 A T X: 13,531,577 (GRCm39) T42S probably benign Het
Hk2 T C 6: 82,713,657 (GRCm39) E447G possibly damaging Het
Lbr G A 1: 181,659,280 (GRCm39) T167I probably benign Het
Mdh1 C T 11: 21,509,281 (GRCm39) V234I probably benign Het
Muc2 A G 7: 141,308,081 (GRCm39) H420R probably damaging Het
Nhlrc2 T C 19: 56,576,703 (GRCm39) probably null Het
Nrcam G T 12: 44,622,667 (GRCm39) A938S probably benign Het
Nt5c2 A G 19: 46,884,957 (GRCm39) V252A probably damaging Het
Or10z1 T A 1: 174,077,716 (GRCm39) Y259F probably damaging Het
Or1p1c A T 11: 74,161,105 (GRCm39) K297* probably null Het
Or51r1 T G 7: 102,228,227 (GRCm39) L175R probably damaging Het
Pgap3 T C 11: 98,281,638 (GRCm39) T187A possibly damaging Het
Pus10 T C 11: 23,653,003 (GRCm39) probably null Het
Rnf213 T C 11: 119,371,765 (GRCm39) probably benign Het
Sag T C 1: 87,752,240 (GRCm39) probably benign Het
Serpinb9e A G 13: 33,439,137 (GRCm39) I188V probably benign Het
Shcbp1l A T 1: 153,328,190 (GRCm39) I634F probably damaging Het
Slc6a16 T A 7: 44,917,596 (GRCm39) C485S probably damaging Het
Vmn1r215 A C 13: 23,260,058 (GRCm39) M33L probably benign Het
Vps26c A G 16: 94,311,665 (GRCm39) F95L probably benign 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
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
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'- TTCTTTCAGAGCCACACGCAG -3'
(R):5'- TTTCCATGGACAACCCTGAGAAC -3'

Sequencing Primer
(F):5'- CACACGCAGGGCAAGTG -3'
(R):5'- AACGCTTTCCAGGACCAGG -3'
Posted On 2015-04-06