Incidental Mutation 'R8779:Idh1'
| ID |
670154 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Idh1
|
| Ensembl Gene |
ENSMUSG00000025950 |
| Gene Name |
isocitrate dehydrogenase 1 (NADP+), soluble |
| Synonyms |
IDPc, Idh-1, Id-1, E030024J03Rik |
| MMRRC Submission |
068721-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8779 (G1)
|
| Quality Score |
217.468 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
65197775-65225638 bp(-) (GRCm39) |
| Type of Mutation |
frame shift |
| DNA Base Change (assembly) |
CA to CAA
at 65204347 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095316
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097709]
[ENSMUST00000149310]
[ENSMUST00000169032]
[ENSMUST00000188109]
[ENSMUST00000188876]
|
| AlphaFold |
O88844 |
| PDB Structure |
CRYSTAL STRUCTURE OF MOUSE CYTOSOLIC ISOCITRATE DEHYDROGENASE [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF MOUSE CYTOSOLIC ISOCITRATE DEHYDROGENASE COMPLEXED WITH CADMIUM AND CITRATE [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000097709
|
| SMART Domains |
Protein: ENSMUSP00000095316
Gene: ENSMUSG00000025950
| 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 null
Transcript: ENSMUST00000169032
|
| SMART Domains |
Protein: ENSMUSP00000127307
Gene: ENSMUSG00000025950
| 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 |
|
| Meta Mutation Damage Score |
0.9756 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adap1 |
C |
A |
5: 139,259,173 (GRCm39) |
C338F |
probably damaging |
Het |
| Ahsa1 |
A |
G |
12: 87,319,973 (GRCm39) |
N256S |
probably benign |
Het |
| Ambra1 |
A |
G |
2: 91,747,719 (GRCm39) |
I1152V |
probably benign |
Het |
| Ank2 |
A |
T |
3: 126,758,751 (GRCm39) |
N149K |
probably damaging |
Het |
| Arid1b |
G |
A |
17: 5,391,809 (GRCm39) |
D1727N |
probably benign |
Het |
| Cntn5 |
A |
T |
9: 10,171,920 (GRCm39) |
F88Y |
probably benign |
Het |
| Cpox |
G |
C |
16: 58,491,229 (GRCm39) |
E147Q |
probably damaging |
Het |
| Dip2c |
T |
C |
13: 9,660,845 (GRCm39) |
F902S |
probably damaging |
Het |
| Eif3c |
T |
C |
7: 126,162,900 (GRCm39) |
K128E |
possibly damaging |
Het |
| Fat4 |
A |
T |
3: 39,033,898 (GRCm39) |
I2517F |
probably damaging |
Het |
| Galnt7 |
T |
C |
8: 58,037,245 (GRCm39) |
N48S |
probably benign |
Het |
| Gcfc2 |
C |
T |
6: 81,925,298 (GRCm39) |
T571I |
probably benign |
Het |
| Gem |
T |
C |
4: 11,711,166 (GRCm39) |
V119A |
possibly damaging |
Het |
| Gm3248 |
A |
T |
14: 5,943,869 (GRCm38) |
N118K |
probably benign |
Het |
| Igkv14-130 |
T |
A |
6: 67,768,311 (GRCm39) |
W57R |
probably damaging |
Het |
| Irag2 |
A |
G |
6: 145,083,925 (GRCm39) |
E30G |
probably benign |
Het |
| Itch |
T |
A |
2: 155,014,440 (GRCm39) |
D92E |
probably benign |
Het |
| Jakmip1 |
G |
C |
5: 37,386,672 (GRCm39) |
E1428Q |
unknown |
Het |
| Kazn |
T |
C |
4: 141,881,856 (GRCm39) |
E128G |
|
Het |
| Myo3a |
C |
A |
2: 22,250,404 (GRCm39) |
Y90* |
probably null |
Het |
| Npas2 |
A |
C |
1: 39,377,267 (GRCm39) |
D543A |
probably damaging |
Het |
| Or5ae1 |
A |
G |
7: 84,565,397 (GRCm39) |
T137A |
possibly damaging |
Het |
| Or5v1 |
A |
G |
17: 37,809,718 (GRCm39) |
M59V |
probably damaging |
Het |
| Or8g52 |
A |
G |
9: 39,630,636 (GRCm39) |
T38A |
probably damaging |
Het |
| Pcdhgb4 |
G |
T |
18: 37,854,835 (GRCm39) |
R410L |
probably damaging |
Het |
| Rexo1 |
A |
G |
10: 80,384,292 (GRCm39) |
S656P |
probably benign |
Het |
| Rmnd5b |
T |
C |
11: 51,518,459 (GRCm39) |
E139G |
possibly damaging |
Het |
| Scn1a |
C |
T |
2: 66,181,257 (GRCm39) |
|
probably benign |
Het |
| Sdk1 |
T |
C |
5: 141,948,457 (GRCm39) |
S601P |
probably benign |
Het |
| Smpd3 |
A |
G |
8: 106,992,121 (GRCm39) |
V144A |
probably benign |
Het |
| Snrk |
T |
C |
9: 121,995,688 (GRCm39) |
I489T |
probably damaging |
Het |
| Thoc1 |
A |
G |
18: 9,993,366 (GRCm39) |
E575G |
probably benign |
Het |
| Usp16 |
A |
G |
16: 87,276,297 (GRCm39) |
D545G |
probably benign |
Het |
| Vmn2r81 |
G |
A |
10: 79,103,218 (GRCm39) |
C137Y |
possibly damaging |
Het |
| Zfp536 |
T |
A |
7: 37,267,692 (GRCm39) |
K575* |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAGCCCTTTGTGGAATATCC -3'
(R):5'- GCCACTTTGAGGGTCTAGGATAG -3'
Sequencing Primer
(F):5'- TGTGGAATATCCTCGCTGCCAG -3'
(R):5'- AGGAATCTAAGCATTTGTCTGTCCC -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation