Incidental Mutation 'R8187:Idh1'
| ID |
634894 |
| 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 |
067610-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8187 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
65197775-65225638 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 65198700 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 390
(D390G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095316
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097709]
[ENSMUST00000169032]
|
| 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 damaging
Transcript: ENSMUST00000097709
AA Change: D390G
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000095316
Gene: ENSMUSG00000025950
AA Change: D390G
| Domain | Start | End | E-Value | Type |
|---|
|
Iso_dh
|
9 |
401 |
1.05e-133 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000169032
AA Change: D390G
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000127307
Gene: ENSMUSG00000025950
AA Change: D390G
| Domain | Start | End | E-Value | Type |
|---|
|
Iso_dh
|
9 |
401 |
1.05e-133 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
100% (57/57) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110009E18Rik |
A |
T |
1: 120,115,913 (GRCm39) |
*122L |
probably null |
Het |
| 4930438A08Rik |
A |
G |
11: 58,180,548 (GRCm39) |
S200G |
|
Het |
| Adgre1 |
T |
A |
17: 57,727,349 (GRCm39) |
S426R |
probably benign |
Het |
| Adgrg1 |
A |
G |
8: 95,732,446 (GRCm39) |
E229G |
probably benign |
Het |
| Arhgap45 |
G |
A |
10: 79,863,706 (GRCm39) |
A819T |
probably damaging |
Het |
| Arhgef39 |
A |
T |
4: 43,498,999 (GRCm39) |
L84Q |
probably damaging |
Het |
| Bpifb9a |
A |
G |
2: 154,111,377 (GRCm39) |
I544V |
probably benign |
Het |
| Brwd1 |
A |
T |
16: 95,803,934 (GRCm39) |
L2079I |
probably damaging |
Het |
| Ccnh |
T |
A |
13: 85,337,656 (GRCm39) |
M1K |
probably null |
Het |
| Cdh16 |
T |
C |
8: 105,344,870 (GRCm39) |
N415S |
probably damaging |
Het |
| Chuk |
T |
C |
19: 44,079,551 (GRCm39) |
N317D |
probably benign |
Het |
| Cnot10 |
A |
T |
9: 114,426,556 (GRCm39) |
C665* |
probably null |
Het |
| Csmd1 |
G |
T |
8: 16,177,188 (GRCm39) |
H1358Q |
probably damaging |
Het |
| Cyp4f37 |
T |
C |
17: 32,854,171 (GRCm39) |
V540A |
probably benign |
Het |
| Daam1 |
A |
G |
12: 71,942,602 (GRCm39) |
D22G |
unknown |
Het |
| Dhdds |
A |
G |
4: 133,727,679 (GRCm39) |
|
probably benign |
Het |
| Dnah5 |
T |
C |
15: 28,384,355 (GRCm39) |
V3033A |
probably damaging |
Het |
| Dync1i2 |
A |
G |
2: 71,044,865 (GRCm39) |
K25R |
probably benign |
Het |
| Efhc1 |
T |
A |
1: 21,030,396 (GRCm39) |
S110T |
probably damaging |
Het |
| Emilin3 |
T |
C |
2: 160,750,000 (GRCm39) |
N583S |
possibly damaging |
Het |
| Eri2 |
A |
G |
7: 119,384,767 (GRCm39) |
V578A |
probably damaging |
Het |
| F2rl2 |
A |
T |
13: 95,837,911 (GRCm39) |
I319L |
probably benign |
Het |
| Gjd3 |
A |
C |
11: 102,691,381 (GRCm39) |
Y207* |
probably null |
Het |
| Gm19965 |
T |
A |
1: 116,749,532 (GRCm39) |
C404* |
probably null |
Het |
| Gm2832 |
A |
T |
14: 41,000,915 (GRCm39) |
H51L |
|
Het |
| Gpam |
T |
C |
19: 55,066,269 (GRCm39) |
T631A |
probably benign |
Het |
| Hdac2 |
T |
C |
10: 36,864,132 (GRCm39) |
S114P |
probably damaging |
Het |
| Hsd3b1 |
T |
A |
3: 98,759,933 (GRCm39) |
T353S |
probably damaging |
Het |
| Il36g |
T |
G |
2: 24,082,617 (GRCm39) |
L131V |
probably damaging |
Het |
| Irs1 |
G |
T |
1: 82,266,021 (GRCm39) |
P732T |
probably damaging |
Het |
| Kansl1l |
T |
A |
1: 66,840,896 (GRCm39) |
I135F |
possibly damaging |
Het |
| Mcc |
A |
G |
18: 44,667,327 (GRCm39) |
V208A |
possibly damaging |
Het |
| Mgrn1 |
A |
G |
16: 4,738,229 (GRCm39) |
N261S |
probably benign |
Het |
| Mybpc2 |
T |
A |
7: 44,161,894 (GRCm39) |
N519Y |
possibly damaging |
Het |
| Nbeal1 |
G |
C |
1: 60,276,310 (GRCm39) |
V684L |
probably benign |
Het |
| Nr1h5 |
G |
T |
3: 102,861,986 (GRCm39) |
H94Q |
probably benign |
Het |
| Nsmce4a |
A |
G |
7: 130,144,519 (GRCm39) |
V128A |
probably benign |
Het |
| Or5w14 |
T |
G |
2: 87,541,624 (GRCm39) |
S209R |
probably benign |
Het |
| Or6y1 |
TTGTGTG |
TTGTG |
1: 174,276,838 (GRCm39) |
|
probably null |
Het |
| Osmr |
T |
A |
15: 6,850,485 (GRCm39) |
Y707F |
probably damaging |
Het |
| Pck1 |
G |
T |
2: 172,997,033 (GRCm39) |
R225L |
probably benign |
Het |
| Prom1 |
A |
T |
5: 44,191,708 (GRCm39) |
L354Q |
probably damaging |
Het |
| Rev3l |
C |
A |
10: 39,682,693 (GRCm39) |
Q300K |
probably benign |
Het |
| Rin3 |
T |
A |
12: 102,292,066 (GRCm39) |
C88S |
unknown |
Het |
| Slc37a4 |
T |
C |
9: 44,311,291 (GRCm39) |
V194A |
possibly damaging |
Het |
| Smpd4 |
T |
A |
16: 17,446,999 (GRCm39) |
H242Q |
probably damaging |
Het |
| Spen |
T |
C |
4: 141,200,216 (GRCm39) |
I2804V |
possibly damaging |
Het |
| Srrm4 |
A |
C |
5: 116,587,680 (GRCm39) |
F359L |
unknown |
Het |
| Svs5 |
A |
G |
2: 164,079,692 (GRCm39) |
Y72H |
possibly damaging |
Het |
| Tmem158 |
T |
A |
9: 123,088,875 (GRCm39) |
T246S |
unknown |
Het |
| Ttn |
A |
G |
2: 76,633,735 (GRCm39) |
V14038A |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,559,790 (GRCm39) |
I29537T |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,626,069 (GRCm39) |
S14997P |
probably damaging |
Het |
| Vmn1r231 |
A |
T |
17: 21,110,893 (GRCm39) |
D7E |
probably benign |
Het |
| Vmn2r14 |
A |
G |
5: 109,368,420 (GRCm39) |
S191P |
probably benign |
Het |
| Zfp599 |
G |
T |
9: 22,161,111 (GRCm39) |
Y351* |
probably null |
Het |
| Zfp729a |
T |
A |
13: 67,769,918 (GRCm39) |
K104* |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCCCCACCACATTCATTAAGG -3'
(R):5'- CACCAGGAACCTCAGTCATG -3'
Sequencing Primer
(F):5'- CACATTCATTAAGGTGGCAATAACTG -3'
(R):5'- ATGGCCCACAGATTTGTAGC -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation