Incidental Mutation 'R3855:Idi1'
ID 276129
Institutional Source Beutler Lab
Gene Symbol Idi1
Ensembl Gene ENSMUSG00000058258
Gene Name isopentenyl-diphosphate delta isomerase
Synonyms 4832416K17Rik
MMRRC Submission 040901-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3855 (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: 98.7%
  • 10x: 96.9%
  • 20x: 93.3%
Validation Efficiency 98% (45/46)
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
Akna A T 4: 63,291,705 (GRCm39) S1144R probably damaging Het
Apbb1ip T C 2: 22,765,187 (GRCm39) S623P unknown Het
Apex1 A G 14: 51,163,714 (GRCm39) T109A probably benign Het
Arhgef1 G A 7: 24,618,697 (GRCm39) G107S probably damaging Het
Ccnq T C 11: 78,642,013 (GRCm39) N159S probably benign Het
Cdc42bpa A G 1: 179,983,543 (GRCm39) probably benign Het
Cog2 T C 8: 125,256,742 (GRCm39) probably null Het
Dennd4c G A 4: 86,698,084 (GRCm39) V191M probably damaging Het
Dthd1 T A 5: 62,984,472 (GRCm39) H392Q probably benign Het
Dthd1 T C 5: 63,045,366 (GRCm39) V710A probably benign Het
Galnt7 T C 8: 57,985,658 (GRCm39) probably benign Het
Gm4868 A G 5: 125,925,609 (GRCm39) noncoding transcript Het
Gpr179 T C 11: 97,232,260 (GRCm39) E648G probably damaging Het
Hk2 T C 6: 82,713,657 (GRCm39) E447G possibly damaging Het
Itgb3bp T C 4: 99,686,957 (GRCm39) E76G possibly damaging Het
Khk A G 5: 31,084,401 (GRCm39) D82G probably benign Het
Kif17 A G 4: 138,018,821 (GRCm39) S533G probably benign Het
Kmt2a A G 9: 44,741,796 (GRCm39) probably benign Het
Kmt5c T C 7: 4,749,255 (GRCm39) F104S probably damaging Het
Lmf1 G A 17: 25,873,445 (GRCm39) V317M probably damaging Het
Mdh1 C T 11: 21,509,281 (GRCm39) V234I probably benign Het
Nbas T A 12: 13,329,415 (GRCm39) I120N possibly damaging Het
Nfia A G 4: 97,951,259 (GRCm39) H362R probably damaging Het
Nhlrc2 T C 19: 56,576,703 (GRCm39) probably null Het
Nme5 A G 18: 34,702,884 (GRCm39) S135P possibly damaging Het
Nt5c2 A G 19: 46,884,957 (GRCm39) V252A probably damaging Het
Nufip2 T C 11: 77,583,715 (GRCm39) V543A probably damaging Het
Or1l4b A T 2: 37,036,835 (GRCm39) I204F possibly damaging Het
Or2y10 A G 11: 49,454,918 (GRCm39) T57A probably damaging Het
Otog T C 7: 45,923,184 (GRCm39) S1020P possibly damaging Het
Pear1 T C 3: 87,659,228 (GRCm39) H814R possibly damaging Het
Pkd1l1 A G 11: 8,915,047 (GRCm39) probably null Het
Pla2g4a T A 1: 149,705,928 (GRCm39) I711F possibly damaging Het
Ppig G A 2: 69,579,719 (GRCm39) V418I unknown Het
Prg4 T C 1: 150,327,751 (GRCm39) Y234C probably damaging Het
Prmt9 G A 8: 78,294,894 (GRCm39) V413I probably benign Het
Rnf145 G A 11: 44,422,120 (GRCm39) V68M possibly damaging Het
Sepsecs G A 5: 52,821,616 (GRCm39) R74C probably damaging Het
Sgsm1 A G 5: 113,411,125 (GRCm39) V580A probably benign Het
Sh3bp1 C T 15: 78,785,361 (GRCm39) probably benign Het
Sox11 C A 12: 27,391,501 (GRCm39) G303C probably damaging Het
Usp54 C A 14: 20,638,488 (GRCm39) M197I probably damaging Het
Vps26c A G 16: 94,311,665 (GRCm39) F95L probably benign Het
Xylt1 T G 7: 117,192,777 (GRCm39) L361R probably damaging Het
Zfp512 A G 5: 31,637,593 (GRCm39) R505G possibly 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
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'- TCTTTCAGAGCCACACGCAG -3'
(R):5'- TTTCCATGGACAACCCTGAG -3'

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