Incidental Mutation 'IGL01465:Idi1'
ID88095
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Idi1
Ensembl Gene ENSMUSG00000058258
Gene Nameisopentenyl-diphosphate delta isomerase
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01465
Quality Score
Status
Chromosome13
Chromosomal Location8885501-8892451 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 8890379 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 199 (I199T)
Ref Sequence ENSEMBL: ENSMUSP00000132780 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000169314]
Predicted Effect probably benign
Transcript: ENSMUST00000169314
AA Change: I199T

PolyPhen 2 Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000132780
Gene: ENSMUSG00000058258
AA Change: I199T

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
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass A G 6: 23,114,839 probably null Het
Abracl A T 10: 18,011,651 I76N probably damaging Het
Akap12 C T 10: 4,356,886 T1232I probably damaging Het
Clcn6 A T 4: 148,021,451 probably benign Het
Cpsf2 C A 12: 101,997,333 D440E probably damaging Het
Csf2ra A G 19: 61,225,998 V243A possibly damaging Het
Cyp4f18 T A 8: 72,002,444 H96L probably benign Het
Dvl2 T A 11: 70,006,354 I294N probably damaging Het
Fbn2 T A 18: 58,203,833 N117Y probably null Het
Gdpd3 A G 7: 126,768,657 I221V possibly damaging Het
Grk2 A T 19: 4,290,858 C221S probably damaging Het
Klhl6 T C 16: 19,982,822 E61G probably damaging Het
Lig1 T A 7: 13,296,391 S431R probably benign Het
Lrg1 T C 17: 56,120,705 E89G probably benign Het
Lrrk2 A G 15: 91,728,925 K751E probably benign Het
Macf1 T A 4: 123,490,721 T1128S probably benign Het
Nphs1 T C 7: 30,486,714 *1243R probably null Het
Rere G A 4: 150,509,994 V354I unknown Het
Safb A G 17: 56,602,974 probably benign Het
Slc2a10 C A 2: 165,517,677 A487D possibly damaging Het
Slc7a12 T A 3: 14,499,323 S85R possibly damaging Het
Sorbs3 G A 14: 70,195,509 probably benign Het
Ttn A G 2: 76,769,791 M19013T probably damaging Het
Utp4 A G 8: 106,894,698 T36A probably benign Het
Vmn2r111 A T 17: 22,548,737 F593Y probably benign Het
Other mutations in Idi1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0304:Idi1 UTSW 13 8890357 missense probably damaging 1.00
R1535:Idi1 UTSW 13 8886909 splice site probably benign
R1739:Idi1 UTSW 13 8890411 missense probably benign 0.05
R3854:Idi1 UTSW 13 8885932 missense probably benign 0.05
R3855:Idi1 UTSW 13 8885932 missense probably benign 0.05
R3856:Idi1 UTSW 13 8885932 missense probably benign 0.05
R4463:Idi1 UTSW 13 8887472 splice site probably benign
R5049:Idi1 UTSW 13 8888042 missense probably damaging 1.00
R5081:Idi1 UTSW 13 8887927 nonsense probably null
R6062:Idi1 UTSW 13 8887505 missense probably damaging 1.00
R6082:Idi1 UTSW 13 8890470 nonsense probably null
R7261:Idi1 UTSW 13 8886895 missense probably benign 0.31
Posted On2013-11-18