Incidental Mutation 'IGL01465:Idi1'
| ID |
88095 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Idi1
|
| Ensembl Gene |
ENSMUSG00000058258 |
| Gene Name |
isopentenyl-diphosphate delta isomerase |
| Synonyms |
4832416K17Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01465
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
8935642-8942432 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 8940415 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 199
(I199T)
|
| 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: I199T
PolyPhen 2
Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000132780
Gene: ENSMUSG00000058258
AA Change: I199T
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aass |
A |
G |
6: 23,114,838 (GRCm39) |
|
probably null |
Het |
| Abracl |
A |
T |
10: 17,887,399 (GRCm39) |
I76N |
probably damaging |
Het |
| Akap12 |
C |
T |
10: 4,306,886 (GRCm39) |
T1232I |
probably damaging |
Het |
| Clcn6 |
A |
T |
4: 148,105,908 (GRCm39) |
|
probably benign |
Het |
| Cpsf2 |
C |
A |
12: 101,963,592 (GRCm39) |
D440E |
probably damaging |
Het |
| Csf2ra |
A |
G |
19: 61,214,436 (GRCm39) |
V243A |
possibly damaging |
Het |
| Cyp4f18 |
T |
A |
8: 72,756,288 (GRCm39) |
H96L |
probably benign |
Het |
| Dvl2 |
T |
A |
11: 69,897,180 (GRCm39) |
I294N |
probably damaging |
Het |
| Fbn2 |
T |
A |
18: 58,336,905 (GRCm39) |
N117Y |
probably null |
Het |
| Gdpd3 |
A |
G |
7: 126,367,829 (GRCm39) |
I221V |
possibly damaging |
Het |
| Grk2 |
A |
T |
19: 4,340,886 (GRCm39) |
C221S |
probably damaging |
Het |
| Klhl6 |
T |
C |
16: 19,801,572 (GRCm39) |
E61G |
probably damaging |
Het |
| Lig1 |
T |
A |
7: 13,030,317 (GRCm39) |
S431R |
probably benign |
Het |
| Lrg1 |
T |
C |
17: 56,427,705 (GRCm39) |
E89G |
probably benign |
Het |
| Lrrk2 |
A |
G |
15: 91,613,128 (GRCm39) |
K751E |
probably benign |
Het |
| Macf1 |
T |
A |
4: 123,384,514 (GRCm39) |
T1128S |
probably benign |
Het |
| Nphs1 |
T |
C |
7: 30,186,139 (GRCm39) |
*1243R |
probably null |
Het |
| Rere |
G |
A |
4: 150,594,451 (GRCm39) |
V354I |
unknown |
Het |
| Safb |
A |
G |
17: 56,909,974 (GRCm39) |
|
probably benign |
Het |
| Slc2a10 |
C |
A |
2: 165,359,597 (GRCm39) |
A487D |
possibly damaging |
Het |
| Slc7a12 |
T |
A |
3: 14,564,383 (GRCm39) |
S85R |
possibly damaging |
Het |
| Sorbs3 |
G |
A |
14: 70,432,958 (GRCm39) |
|
probably benign |
Het |
| Ttn |
A |
G |
2: 76,600,135 (GRCm39) |
M19013T |
probably damaging |
Het |
| Utp4 |
A |
G |
8: 107,621,330 (GRCm39) |
T36A |
probably benign |
Het |
| Vmn2r111 |
A |
T |
17: 22,767,718 (GRCm39) |
F593Y |
probably benign |
Het |
|
| Other mutations in Idi1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
| Posted On |
2013-11-18 |
Incidental Mutation