Incidental Mutation 'R9326:Idh1'
| ID |
706490 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9326 (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 65205416 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 183
(Y183C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095316
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097709]
[ENSMUST00000149310]
[ENSMUST00000169032]
[ENSMUST00000186222]
[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 damaging
Transcript: ENSMUST00000097709
AA Change: Y183C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000095316
Gene: ENSMUSG00000025950
AA Change: Y183C
| 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: Y183C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000127307
Gene: ENSMUSG00000025950
AA Change: Y183C
| 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: Y183C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000140757
Gene: ENSMUSG00000025950
AA Change: Y183C
| Domain | Start | End | E-Value | Type |
|---|
|
Iso_dh
|
9 |
202 |
1.1e-10 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000188876
AA Change: Y183C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000139906
Gene: ENSMUSG00000025950
AA Change: Y183C
| Domain | Start | End | E-Value | Type |
|---|
|
Iso_dh
|
9 |
187 |
2.2e-9 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (66/66) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310057J18Rik |
A |
T |
10: 28,849,882 (GRCm39) |
Y230* |
probably null |
Het |
| Adamts14 |
A |
G |
10: 61,036,238 (GRCm39) |
S1015P |
probably benign |
Het |
| Adamts8 |
A |
G |
9: 30,854,886 (GRCm39) |
T252A |
probably benign |
Het |
| Adamtsl1 |
T |
A |
4: 86,150,804 (GRCm39) |
S149T |
possibly damaging |
Het |
| Afp |
A |
G |
5: 90,652,205 (GRCm39) |
K399E |
probably damaging |
Het |
| Atp8b1 |
T |
A |
18: 64,706,344 (GRCm39) |
S222C |
probably damaging |
Het |
| Ccdc88c |
C |
A |
12: 100,995,109 (GRCm39) |
|
probably benign |
Het |
| Cfap276 |
C |
T |
3: 108,451,931 (GRCm39) |
R159W |
probably damaging |
Het |
| Cip2a |
G |
A |
16: 48,834,235 (GRCm39) |
|
probably null |
Het |
| Cluh |
A |
G |
11: 74,554,902 (GRCm39) |
K780R |
probably benign |
Het |
| Cope |
C |
A |
8: 70,755,516 (GRCm39) |
F20L |
possibly damaging |
Het |
| Cps1 |
G |
T |
1: 67,248,795 (GRCm39) |
R1174L |
probably damaging |
Het |
| Csmd1 |
G |
A |
8: 16,049,803 (GRCm39) |
T2271I |
probably benign |
Het |
| Ctbp2 |
A |
G |
7: 132,616,359 (GRCm39) |
I192T |
probably benign |
Het |
| Dcun1d4 |
A |
G |
5: 73,680,018 (GRCm39) |
T106A |
probably benign |
Het |
| Ddb2 |
A |
T |
2: 91,047,559 (GRCm39) |
M240K |
probably benign |
Het |
| Ddx20 |
A |
T |
3: 105,591,735 (GRCm39) |
V145D |
probably damaging |
Het |
| Ddx31 |
A |
G |
2: 28,749,008 (GRCm39) |
D268G |
probably damaging |
Het |
| Drc7 |
A |
G |
8: 95,801,886 (GRCm39) |
I716V |
probably benign |
Het |
| Epb41l4a |
G |
T |
18: 33,961,261 (GRCm39) |
Y424* |
probably null |
Het |
| Exog |
A |
G |
9: 119,291,554 (GRCm39) |
N277S |
probably damaging |
Het |
| Fzd7 |
T |
C |
1: 59,522,837 (GRCm39) |
L240P |
possibly damaging |
Het |
| Gpr87 |
T |
C |
3: 59,086,609 (GRCm39) |
T299A |
probably damaging |
Het |
| Hecw2 |
A |
G |
1: 54,079,369 (GRCm39) |
Y95H |
probably damaging |
Het |
| Ighv14-4 |
T |
A |
12: 114,140,469 (GRCm39) |
I7F |
possibly damaging |
Het |
| Il1rap |
A |
T |
16: 26,495,641 (GRCm39) |
I83F |
probably damaging |
Het |
| Jag1 |
A |
G |
2: 136,931,745 (GRCm39) |
S609P |
probably benign |
Het |
| Klhl33 |
T |
C |
14: 51,134,615 (GRCm39) |
E9G |
possibly damaging |
Het |
| Lama2 |
A |
G |
10: 26,906,193 (GRCm39) |
F2421L |
probably benign |
Het |
| Lmod2 |
A |
T |
6: 24,597,999 (GRCm39) |
I40F |
probably damaging |
Het |
| Lsm5 |
A |
T |
6: 56,681,616 (GRCm39) |
L13Q |
possibly damaging |
Het |
| Man2c1 |
G |
T |
9: 57,042,904 (GRCm39) |
C258F |
probably damaging |
Het |
| Mgst1 |
T |
C |
6: 138,120,023 (GRCm39) |
S28P |
probably benign |
Het |
| Msh3 |
A |
T |
13: 92,400,307 (GRCm39) |
V744E |
probably benign |
Het |
| Mtx2 |
C |
T |
2: 74,656,287 (GRCm39) |
|
probably benign |
Het |
| N4bp3 |
C |
T |
11: 51,535,313 (GRCm39) |
R292H |
probably benign |
Het |
| Neto2 |
A |
T |
8: 86,369,063 (GRCm39) |
W354R |
probably damaging |
Het |
| Nicn1 |
C |
T |
9: 108,171,708 (GRCm39) |
R163C |
possibly damaging |
Het |
| Nos1 |
G |
C |
5: 118,017,402 (GRCm39) |
R255P |
probably benign |
Het |
| Nup98 |
C |
A |
7: 101,788,037 (GRCm39) |
R1011L |
probably benign |
Het |
| Nutm1 |
A |
T |
2: 112,078,692 (GRCm39) |
S1074R |
possibly damaging |
Het |
| Nxt2 |
C |
T |
X: 141,020,747 (GRCm39) |
A118V |
possibly damaging |
Het |
| Or10ag56 |
T |
A |
2: 87,139,730 (GRCm39) |
M219K |
probably benign |
Het |
| Or5aq1 |
T |
C |
2: 86,966,647 (GRCm39) |
H6R |
probably benign |
Het |
| Or7g29 |
A |
T |
9: 19,286,346 (GRCm39) |
M277K |
probably damaging |
Het |
| Or8s8 |
T |
C |
15: 98,354,935 (GRCm39) |
V248A |
probably damaging |
Het |
| Pi4kb |
T |
A |
3: 94,900,506 (GRCm39) |
|
probably null |
Het |
| Rgsl1 |
C |
T |
1: 153,679,768 (GRCm39) |
D103N |
probably benign |
Het |
| Rrbp1 |
G |
A |
2: 143,806,744 (GRCm39) |
T958M |
probably damaging |
Het |
| S100a13 |
G |
T |
3: 90,423,170 (GRCm39) |
D54Y |
unknown |
Het |
| Setd2 |
T |
C |
9: 110,378,671 (GRCm39) |
C829R |
probably benign |
Het |
| Snd1 |
A |
T |
6: 28,795,842 (GRCm39) |
R562* |
probably null |
Het |
| Snx27 |
A |
T |
3: 94,409,369 (GRCm39) |
Y526N |
probably damaging |
Het |
| Stab2 |
A |
G |
10: 86,791,010 (GRCm39) |
L483P |
probably damaging |
Het |
| Sybu |
A |
G |
15: 44,537,019 (GRCm39) |
S436P |
probably damaging |
Het |
| Thy1 |
A |
G |
9: 43,957,983 (GRCm39) |
D37G |
probably damaging |
Het |
| Tmed8 |
A |
T |
12: 87,221,395 (GRCm39) |
I126N |
probably damaging |
Het |
| Tmem161b |
T |
A |
13: 84,440,602 (GRCm39) |
L340* |
probably null |
Het |
| Tpr |
C |
T |
1: 150,301,407 (GRCm39) |
A1331V |
possibly damaging |
Het |
| Tprg1 |
G |
A |
16: 25,136,107 (GRCm39) |
E33K |
probably benign |
Het |
| Vps26b |
T |
C |
9: 26,930,627 (GRCm39) |
N123D |
probably damaging |
Het |
| Wdr7 |
G |
A |
18: 63,872,260 (GRCm39) |
S398N |
probably benign |
Het |
| Zbtb48 |
T |
C |
4: 152,111,509 (GRCm39) |
D2G |
probably damaging |
Het |
| Zfp975 |
G |
A |
7: 42,311,837 (GRCm39) |
R259* |
probably null |
Het |
| Zfp986 |
T |
A |
4: 145,626,451 (GRCm39) |
H370Q |
probably damaging |
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGGGCTACATCCTAAATGCCTG -3'
(R):5'- AGCCTGTTCAAGTTGGTAGTTC -3'
Sequencing Primer
(F):5'- GGCTACATCCTAAATGCCTGCAATTC -3'
(R):5'- CTGGAATTTCACAGTCCTGAGC -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation