Incidental Mutation 'IGL02226:Idh1'
ID |
285344 |
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 # |
IGL02226
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
65197775-65225638 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 65201081 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 290
(M290K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127307
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097709]
[ENSMUST00000169032]
[ENSMUST00000188109]
[ENSMUST00000188876]
|
AlphaFold |
O88844 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000097709
AA Change: M290K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000095316 Gene: ENSMUSG00000025950 AA Change: M290K
Domain | Start | End | E-Value | Type |
Iso_dh
|
9 |
401 |
1.05e-133 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000169032
AA Change: M290K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000127307 Gene: ENSMUSG00000025950 AA Change: M290K
Domain | Start | End | E-Value | Type |
Iso_dh
|
9 |
401 |
1.05e-133 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000188109
|
SMART Domains |
Protein: ENSMUSP00000140757 Gene: ENSMUSG00000025950
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akap6 |
T |
C |
12: 53,057,250 (GRCm39) |
|
probably benign |
Het |
Ankrd11 |
G |
A |
8: 123,618,984 (GRCm39) |
R1602W |
probably damaging |
Het |
Arhgap23 |
G |
T |
11: 97,342,426 (GRCm39) |
R236L |
probably benign |
Het |
Aurkaip1 |
T |
C |
4: 155,917,028 (GRCm39) |
V92A |
probably benign |
Het |
Cdh20 |
A |
T |
1: 104,881,816 (GRCm39) |
|
probably benign |
Het |
Ctnnd2 |
A |
G |
15: 30,847,482 (GRCm39) |
N691S |
probably benign |
Het |
Ddx24 |
A |
C |
12: 103,390,717 (GRCm39) |
D2E |
possibly damaging |
Het |
Dennd5b |
A |
G |
6: 148,934,799 (GRCm39) |
S691P |
probably benign |
Het |
Dhrs3 |
C |
T |
4: 144,650,519 (GRCm39) |
R248W |
possibly damaging |
Het |
Dlgap1 |
T |
C |
17: 70,823,029 (GRCm39) |
S5P |
probably damaging |
Het |
Dnai4 |
A |
T |
4: 102,947,595 (GRCm39) |
I227K |
probably benign |
Het |
Ep300 |
A |
T |
15: 81,497,613 (GRCm39) |
M510L |
unknown |
Het |
Fbxo25 |
T |
C |
8: 13,973,922 (GRCm39) |
|
probably benign |
Het |
Gm3252 |
A |
T |
14: 4,743,741 (GRCm38) |
K193M |
possibly damaging |
Het |
Gtf3c1 |
T |
C |
7: 125,267,162 (GRCm39) |
|
probably null |
Het |
Helz2 |
T |
C |
2: 180,873,483 (GRCm39) |
D2337G |
probably damaging |
Het |
Layn |
T |
C |
9: 50,985,317 (GRCm39) |
S80G |
probably damaging |
Het |
Ltbp4 |
C |
T |
7: 27,006,359 (GRCm39) |
E1440K |
probably damaging |
Het |
Mri1 |
T |
C |
8: 84,982,924 (GRCm39) |
T166A |
probably damaging |
Het |
Myod1 |
C |
T |
7: 46,027,730 (GRCm39) |
T290I |
probably benign |
Het |
Nfat5 |
T |
A |
8: 108,078,154 (GRCm39) |
L431* |
probably null |
Het |
Nle1 |
A |
T |
11: 82,795,133 (GRCm39) |
Y299* |
probably null |
Het |
Nlrp4c |
T |
A |
7: 6,069,828 (GRCm39) |
F576L |
possibly damaging |
Het |
Nudt21 |
G |
T |
8: 94,746,329 (GRCm39) |
S123* |
probably null |
Het |
Plekhg1 |
A |
C |
10: 3,895,916 (GRCm39) |
D436A |
probably damaging |
Het |
Plxna2 |
T |
C |
1: 194,326,732 (GRCm39) |
V222A |
probably damaging |
Het |
Ppp4r3c1 |
A |
C |
X: 88,975,518 (GRCm39) |
D226E |
probably damaging |
Het |
Rbm14 |
A |
G |
19: 4,851,745 (GRCm39) |
|
probably benign |
Het |
Scfd1 |
T |
A |
12: 51,436,164 (GRCm39) |
|
probably benign |
Het |
Slc34a2 |
A |
G |
5: 53,225,073 (GRCm39) |
T405A |
probably benign |
Het |
Slc39a9 |
T |
A |
12: 80,691,695 (GRCm39) |
M14K |
probably damaging |
Het |
Slc39a9 |
G |
A |
12: 80,691,696 (GRCm39) |
M14I |
probably damaging |
Het |
Spast |
G |
A |
17: 74,679,334 (GRCm39) |
|
probably benign |
Het |
Spen |
T |
C |
4: 141,205,457 (GRCm39) |
R1057G |
unknown |
Het |
Sptbn4 |
T |
G |
7: 27,065,132 (GRCm39) |
T2056P |
probably damaging |
Het |
Ssrp1 |
T |
C |
2: 84,870,705 (GRCm39) |
L148P |
probably damaging |
Het |
Tdrd6 |
T |
A |
17: 43,938,093 (GRCm39) |
H985L |
probably damaging |
Het |
Tmem44 |
A |
G |
16: 30,358,199 (GRCm39) |
|
probably benign |
Het |
Vmn2r116 |
T |
A |
17: 23,603,808 (GRCm39) |
L11Q |
probably null |
Het |
|
Other mutations in Idh1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00786:Idh1
|
APN |
1 |
65,205,402 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
2015-04-16 |