Incidental Mutation 'R3856:Idi1'
ID 276177
Institutional Source Beutler Lab
Gene Symbol Idi1
Ensembl Gene ENSMUSG00000058258
Gene Name isopentenyl-diphosphate delta isomerase
Synonyms 4832416K17Rik
MMRRC Submission 040902-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3856 (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: 96.7%
  • 20x: 92.4%
Validation Efficiency 100% (57/57)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acod1 T C 14: 103,292,882 (GRCm39) S469P possibly damaging Het
Adgrf5 A T 17: 43,757,927 (GRCm39) N787I possibly damaging Het
Ank2 T C 3: 126,723,493 (GRCm39) T945A probably benign Het
Aox4 T A 1: 58,293,093 (GRCm39) I863N probably damaging Het
Ap3d1 A G 10: 80,548,019 (GRCm39) I891T probably benign 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
Atxn7l1 A G 12: 33,417,599 (GRCm39) T587A probably damaging Het
Atxn7l3 T C 11: 102,184,729 (GRCm39) D128G probably damaging Het
Cacna1h T C 17: 25,611,427 (GRCm39) Y457C probably damaging Het
Ccdc60 A C 5: 116,310,514 (GRCm39) C183G probably damaging Het
Cep131 G A 11: 119,958,011 (GRCm39) R772* probably null Het
Cnst C T 1: 179,407,279 (GRCm39) P109S probably benign Het
Crtc2 G T 3: 90,169,877 (GRCm39) L509F probably damaging Het
Ctsr A T 13: 61,309,750 (GRCm39) I153N possibly damaging Het
Dffa A T 4: 149,188,708 (GRCm39) M1L possibly damaging Het
Dnajc16 G A 4: 141,490,964 (GRCm39) R729* probably null Het
Eef2k T A 7: 120,498,594 (GRCm39) C91* probably null Het
Eml5 T C 12: 98,782,283 (GRCm39) D1336G probably damaging Het
F12 G A 13: 55,569,035 (GRCm39) probably null Het
Fam43b G C 4: 138,122,409 (GRCm39) R304G probably benign Het
Fbxo40 A T 16: 36,789,445 (GRCm39) L555Q probably damaging Het
Frmpd1 T C 4: 45,283,698 (GRCm39) S840P probably damaging Het
Gadd45a C T 6: 67,013,989 (GRCm39) probably null Het
Galnt7 T C 8: 57,985,658 (GRCm39) probably benign Het
Gm5592 G A 7: 40,807,259 (GRCm39) probably benign Het
Gpr171 T C 3: 59,005,506 (GRCm39) T90A probably damaging Het
Gpr82 A T X: 13,531,577 (GRCm39) T42S probably benign Het
H2-M10.6 T A 17: 37,123,396 (GRCm39) I30N probably benign Het
Hk2 T C 6: 82,713,657 (GRCm39) E447G possibly damaging Het
Hspa4l C A 3: 40,739,821 (GRCm39) H698Q probably benign Het
Kdm4a C T 4: 118,010,428 (GRCm39) R605H probably damaging Het
Nhlrc2 T C 19: 56,576,703 (GRCm39) probably null Het
Nt5c2 A G 19: 46,884,957 (GRCm39) V252A probably damaging Het
Or52ae7 T A 7: 103,119,867 (GRCm39) V207E probably damaging Het
Pbp2 A G 6: 135,287,143 (GRCm39) L68P probably benign Het
Pcnx3 G T 19: 5,728,995 (GRCm39) T547K probably benign Het
Ppp1r12a T C 10: 108,089,362 (GRCm39) probably benign Het
Prmt9 G A 8: 78,294,894 (GRCm39) V413I probably benign Het
Pudp T C 18: 50,701,124 (GRCm39) N203S probably benign Het
Rnf213 T C 11: 119,371,765 (GRCm39) probably benign Het
Sall3 G A 18: 81,015,717 (GRCm39) T737M probably damaging Het
Scn2b A G 9: 45,036,759 (GRCm39) N89S possibly damaging Het
Sgsm1 A G 5: 113,411,125 (GRCm39) V580A probably benign Het
Slc13a4 C A 6: 35,248,539 (GRCm39) probably null Het
Slc4a4 A C 5: 89,380,698 (GRCm39) S1015R probably benign Het
Slc8a1 T C 17: 81,955,803 (GRCm39) T412A probably benign Het
Spag17 A T 3: 100,014,075 (GRCm39) D2116V probably damaging Het
Trim55 T C 3: 19,727,120 (GRCm39) F396L probably benign Het
Usp54 C A 14: 20,638,488 (GRCm39) M197I probably damaging Het
Vmn1r189 A T 13: 22,286,439 (GRCm39) F133I possibly damaging Het
Zfp735 T C 11: 73,602,282 (GRCm39) S409P 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
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
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