Incidental Mutation 'IGL00786:Idh1'
| ID |
13546 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Idh1
|
| Ensembl Gene |
ENSMUSG00000025950 |
| Gene Name |
isocitrate dehydrogenase 1 (NADP+), soluble |
| Synonyms |
IDPc, Idh-1, Id-1, E030024J03Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00786
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
65197775-65225638 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 65205402 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 188
(S188P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127307
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097709]
[ENSMUST00000149310]
[ENSMUST00000169032]
[ENSMUST00000186222]
[ENSMUST00000188109]
[ENSMUST00000188876]
|
| AlphaFold |
O88844 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000097709
AA Change: S188P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000095316
Gene: ENSMUSG00000025950
AA Change: S188P
| Domain | Start | End | E-Value | Type |
|---|
|
Iso_dh
|
9 |
401 |
1.05e-133 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149310
|
| SMART Domains |
Protein: ENSMUSP00000117853
Gene: ENSMUSG00000025950
| Domain | Start | End | E-Value | Type |
|---|
|
Iso_dh
|
9 |
143 |
1.74e-1 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000169032
AA Change: S188P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000127307
Gene: ENSMUSG00000025950
AA Change: S188P
| Domain | Start | End | E-Value | Type |
|---|
|
Iso_dh
|
9 |
401 |
1.05e-133 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000186222
|
| SMART Domains |
Protein: ENSMUSP00000140694
Gene: ENSMUSG00000025950
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Iso_dh
|
9 |
84 |
3.8e-12 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000188109
AA Change: S188P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000140757
Gene: ENSMUSG00000025950
AA Change: S188P
| Domain | Start | End | E-Value | Type |
|---|
|
Iso_dh
|
9 |
202 |
1.1e-10 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000188876
|
| SMART Domains |
Protein: ENSMUSP00000139906
Gene: ENSMUSG00000025950
| Domain | Start | End | E-Value | Type |
|---|
|
Iso_dh
|
9 |
187 |
2.2e-9 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Isocitrate dehydrogenases catalyze the oxidative decarboxylation of isocitrate to 2-oxoglutarate. These enzymes belong to two distinct subclasses, one of which utilizes NAD(+) as the electron acceptor and the other NADP(+). Five isocitrate dehydrogenases have been reported: three NAD(+)-dependent isocitrate dehydrogenases, which localize to the mitochondrial matrix, and two NADP(+)-dependent isocitrate dehydrogenases, one of which is mitochondrial and the other predominantly cytosolic. Each NADP(+)-dependent isozyme is a homodimer. The protein encoded by this gene is the NADP(+)-dependent isocitrate dehydrogenase found in the cytoplasm and peroxisomes. It contains the PTS-1 peroxisomal targeting signal sequence. The presence of this enzyme in peroxisomes suggests roles in the regeneration of NADPH for intraperoxisomal reductions, such as the conversion of 2, 4-dienoyl-CoAs to 3-enoyl-CoAs, as well as in peroxisomal reactions that consume 2-oxoglutarate, namely the alpha-hydroxylation of phytanic acid. The cytoplasmic enzyme serves a significant role in cytoplasmic NADPH production. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Sep 2013]
PHENOTYPE: Electrophoretic variation has been shown in tissues of liver, kidney, spleen and muscle. Strains C57BL/6, C3H/He carry the a allele; DBA/2 carries the b allele; M.m. castaneus and M.m. molossinus carry the c allele; the d allele is found at low frequencyin M. m. molossinus in Japan. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(14) : Targeted, other(3) Gene trapped(11)
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930402F06Rik |
T |
C |
2: 35,265,851 (GRCm39) |
N242S |
probably benign |
Het |
| Akap9 |
C |
A |
5: 4,120,522 (GRCm39) |
A3646E |
probably damaging |
Het |
| Akt1 |
C |
A |
12: 112,624,105 (GRCm39) |
G233V |
probably damaging |
Het |
| B3gat3 |
A |
G |
19: 8,904,149 (GRCm39) |
E320G |
probably benign |
Het |
| Bltp3a |
T |
A |
17: 28,098,266 (GRCm39) |
I136N |
probably damaging |
Het |
| Bpifa5 |
G |
A |
2: 154,009,172 (GRCm39) |
C238Y |
probably damaging |
Het |
| Camkmt |
T |
C |
17: 85,403,919 (GRCm39) |
V47A |
probably damaging |
Het |
| Ccnl2 |
C |
T |
4: 155,905,337 (GRCm39) |
R284W |
probably damaging |
Het |
| Chl1 |
G |
T |
6: 103,652,106 (GRCm39) |
V341F |
probably damaging |
Het |
| Cst3 |
A |
T |
2: 148,714,797 (GRCm39) |
C93* |
probably null |
Het |
| Ctsh |
T |
C |
9: 89,946,291 (GRCm39) |
V119A |
probably damaging |
Het |
| Dmap1 |
C |
T |
4: 117,533,593 (GRCm39) |
R225Q |
possibly damaging |
Het |
| Ehbp1 |
A |
G |
11: 22,050,460 (GRCm39) |
S479P |
possibly damaging |
Het |
| Eml2 |
A |
G |
7: 18,936,507 (GRCm39) |
Y528C |
probably damaging |
Het |
| Faim |
G |
A |
9: 98,874,218 (GRCm39) |
G15R |
probably damaging |
Het |
| G6pc3 |
A |
G |
11: 102,083,931 (GRCm39) |
M186V |
probably benign |
Het |
| Gpr37 |
A |
G |
6: 25,669,317 (GRCm39) |
V509A |
possibly damaging |
Het |
| Heatr5b |
G |
T |
17: 79,132,063 (GRCm39) |
H347N |
possibly damaging |
Het |
| Mphosph8 |
T |
C |
14: 56,910,001 (GRCm39) |
V118A |
probably benign |
Het |
| Mthfsd |
C |
T |
8: 121,831,207 (GRCm39) |
R91Q |
probably damaging |
Het |
| Otor |
G |
A |
2: 142,921,846 (GRCm39) |
V86I |
probably damaging |
Het |
| Pdk2 |
T |
A |
11: 94,922,761 (GRCm39) |
T140S |
probably benign |
Het |
| Pnliprp2 |
A |
G |
19: 58,748,929 (GRCm39) |
N78S |
probably benign |
Het |
| Rimbp3 |
C |
T |
16: 17,029,552 (GRCm39) |
T992M |
probably damaging |
Het |
| Sdad1 |
A |
T |
5: 92,451,632 (GRCm39) |
|
probably null |
Het |
| Sidt2 |
A |
G |
9: 45,861,101 (GRCm39) |
S71P |
possibly damaging |
Het |
| Slc44a2 |
T |
A |
9: 21,257,231 (GRCm39) |
V390E |
probably damaging |
Het |
| Tmem168 |
T |
C |
6: 13,602,674 (GRCm39) |
I231V |
probably benign |
Het |
| Vim |
T |
C |
2: 13,583,321 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Idh1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00790:Idh1
|
APN |
1 |
65,205,281 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL00979:Idh1
|
APN |
1 |
65,210,308 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01397:Idh1
|
APN |
1 |
65,207,754 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
IGL02226:Idh1
|
APN |
1 |
65,201,081 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02933:Idh1
|
APN |
1 |
65,201,072 (GRCm39) |
missense |
probably damaging |
1.00 |
|
B5639:Idh1
|
UTSW |
1 |
65,204,257 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0310:Idh1
|
UTSW |
1 |
65,201,079 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0865:Idh1
|
UTSW |
1 |
65,200,315 (GRCm39) |
missense |
probably benign |
|
|
R1172:Idh1
|
UTSW |
1 |
65,200,319 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1173:Idh1
|
UTSW |
1 |
65,200,319 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1174:Idh1
|
UTSW |
1 |
65,200,319 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1535:Idh1
|
UTSW |
1 |
65,207,697 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1833:Idh1
|
UTSW |
1 |
65,200,273 (GRCm39) |
missense |
probably benign |
|
|
R2135:Idh1
|
UTSW |
1 |
65,201,078 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5434:Idh1
|
UTSW |
1 |
65,214,495 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5478:Idh1
|
UTSW |
1 |
65,200,997 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5633:Idh1
|
UTSW |
1 |
65,204,295 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6152:Idh1
|
UTSW |
1 |
65,198,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6249:Idh1
|
UTSW |
1 |
65,205,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6252:Idh1
|
UTSW |
1 |
65,207,690 (GRCm39) |
missense |
probably benign |
|
|
R7238:Idh1
|
UTSW |
1 |
65,205,284 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7754:Idh1
|
UTSW |
1 |
65,198,649 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7819:Idh1
|
UTSW |
1 |
65,204,277 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8064:Idh1
|
UTSW |
1 |
65,205,338 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8078:Idh1
|
UTSW |
1 |
65,200,225 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8187:Idh1
|
UTSW |
1 |
65,198,700 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8778:Idh1
|
UTSW |
1 |
65,204,347 (GRCm39) |
frame shift |
probably null |
|
|
R8779:Idh1
|
UTSW |
1 |
65,204,347 (GRCm39) |
frame shift |
probably null |
|
|
R8791:Idh1
|
UTSW |
1 |
65,204,347 (GRCm39) |
frame shift |
probably null |
|
|
R8794:Idh1
|
UTSW |
1 |
65,204,347 (GRCm39) |
frame shift |
probably null |
|
|
R8795:Idh1
|
UTSW |
1 |
65,204,347 (GRCm39) |
frame shift |
probably null |
|
|
R8799:Idh1
|
UTSW |
1 |
65,204,347 (GRCm39) |
frame shift |
probably null |
|
|
R8802:Idh1
|
UTSW |
1 |
65,204,347 (GRCm39) |
frame shift |
probably null |
|
|
R8805:Idh1
|
UTSW |
1 |
65,204,347 (GRCm39) |
frame shift |
probably null |
|
|
R8935:Idh1
|
UTSW |
1 |
65,204,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9243:Idh1
|
UTSW |
1 |
65,207,656 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9326:Idh1
|
UTSW |
1 |
65,205,416 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-12-06 |
Incidental Mutation