Incidental Mutation 'R8802:Idh1'
| ID |
671529 |
| 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 |
068639-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8802 (G1)
|
| Quality Score |
217.468 |
|
Status
|
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: 99.4%
|
| Validation Efficiency |
100% (59/59) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900092C05Rik |
A |
G |
7: 12,249,415 (GRCm39) |
T83A |
possibly damaging |
Het |
| Abcc6 |
A |
G |
7: 45,658,283 (GRCm39) |
L451P |
probably damaging |
Het |
| Ak5 |
T |
C |
3: 152,321,631 (GRCm39) |
E252G |
probably damaging |
Het |
| Atg4a-ps |
T |
A |
3: 103,552,686 (GRCm39) |
K218N |
probably damaging |
Het |
| Bglap2 |
T |
A |
3: 88,285,568 (GRCm39) |
M35L |
probably benign |
Het |
| Bicral |
A |
G |
17: 47,135,626 (GRCm39) |
M528T |
probably benign |
Het |
| Cdh23 |
A |
G |
10: 60,244,877 (GRCm39) |
V1008A |
probably benign |
Het |
| Chil6 |
A |
T |
3: 106,312,208 (GRCm39) |
L31Q |
probably damaging |
Het |
| Ctnnd2 |
T |
C |
15: 30,967,022 (GRCm39) |
V991A |
probably damaging |
Het |
| Dcc |
T |
C |
18: 71,959,125 (GRCm39) |
N216D |
probably damaging |
Het |
| Dcdc2c |
T |
A |
12: 28,576,720 (GRCm39) |
D106V |
probably benign |
Het |
| Dchs2 |
T |
C |
3: 83,253,544 (GRCm39) |
I2318T |
probably benign |
Het |
| Fat2 |
A |
G |
11: 55,173,750 (GRCm39) |
F2321S |
possibly damaging |
Het |
| Fbxw7 |
T |
C |
3: 84,859,693 (GRCm39) |
V5A |
unknown |
Het |
| Fn3krp |
T |
C |
11: 121,315,813 (GRCm39) |
V68A |
probably damaging |
Het |
| Gcn1 |
T |
C |
5: 115,747,942 (GRCm39) |
L1783P |
probably damaging |
Het |
| Gdf6 |
C |
T |
4: 9,844,769 (GRCm39) |
H98Y |
probably damaging |
Het |
| Gm13271 |
C |
A |
4: 88,673,247 (GRCm39) |
P48Q |
probably damaging |
Het |
| Gm4871 |
A |
T |
5: 144,966,876 (GRCm39) |
N202K |
probably benign |
Het |
| Gucy1a2 |
G |
A |
9: 3,635,050 (GRCm39) |
V365I |
probably benign |
Het |
| Hadhb |
C |
T |
5: 30,378,831 (GRCm39) |
Q157* |
probably null |
Het |
| Hivep2 |
C |
T |
10: 14,015,166 (GRCm39) |
R1778C |
probably damaging |
Het |
| Hmcn2 |
T |
A |
2: 31,301,288 (GRCm39) |
V2845E |
probably damaging |
Het |
| Hps3 |
T |
A |
3: 20,074,070 (GRCm39) |
I431L |
probably damaging |
Het |
| Igkv12-38 |
A |
T |
6: 69,920,390 (GRCm39) |
C43S |
probably damaging |
Het |
| Jph2 |
T |
A |
2: 163,239,184 (GRCm39) |
H88L |
probably damaging |
Het |
| Kmt2b |
G |
A |
7: 30,283,496 (GRCm39) |
R955W |
probably damaging |
Het |
| Lrrc4c |
A |
G |
2: 97,460,603 (GRCm39) |
T410A |
possibly damaging |
Het |
| Ltf |
C |
T |
9: 110,850,018 (GRCm39) |
P14S |
probably benign |
Het |
| Mapk8ip3 |
G |
A |
17: 25,124,206 (GRCm39) |
R521C |
probably damaging |
Het |
| Nampt |
C |
A |
12: 32,900,435 (GRCm39) |
T460K |
probably benign |
Het |
| Nek9 |
T |
C |
12: 85,374,192 (GRCm39) |
I282V |
probably benign |
Het |
| Ninl |
A |
T |
2: 150,777,172 (GRCm39) |
V1394E |
probably damaging |
Het |
| Obox6 |
G |
A |
7: 15,567,772 (GRCm39) |
S225L |
probably damaging |
Het |
| Or6k4 |
A |
G |
1: 173,964,616 (GRCm39) |
Y102C |
probably damaging |
Het |
| Pcdha4 |
A |
G |
18: 37,087,211 (GRCm39) |
K465E |
possibly damaging |
Het |
| Pex11g |
T |
C |
8: 3,507,308 (GRCm39) |
K151R |
unknown |
Het |
| Pld2 |
T |
C |
11: 70,446,824 (GRCm39) |
L811P |
probably damaging |
Het |
| Pum2 |
C |
T |
12: 8,778,726 (GRCm39) |
R459* |
probably null |
Het |
| Ralgapa1 |
T |
C |
12: 55,785,101 (GRCm39) |
S720G |
probably damaging |
Het |
| Rbbp6 |
T |
A |
7: 122,587,680 (GRCm39) |
|
probably benign |
Het |
| Rbl1 |
A |
G |
2: 157,038,073 (GRCm39) |
|
probably null |
Het |
| Reln |
G |
T |
5: 22,130,257 (GRCm39) |
R2685S |
probably damaging |
Het |
| Rnf213 |
T |
C |
11: 119,352,928 (GRCm39) |
F3942L |
|
Het |
| Rpusd2 |
T |
C |
2: 118,865,378 (GRCm39) |
V25A |
probably benign |
Het |
| Rusc1 |
T |
A |
3: 88,999,540 (GRCm39) |
I81L |
probably benign |
Het |
| Serpinb9b |
A |
G |
13: 33,213,587 (GRCm39) |
E48G |
probably benign |
Het |
| Skil |
C |
T |
3: 31,167,592 (GRCm39) |
P408L |
probably damaging |
Het |
| Slc17a4 |
A |
G |
13: 24,089,274 (GRCm39) |
W186R |
probably damaging |
Het |
| Syvn1 |
T |
C |
19: 6,097,968 (GRCm39) |
F2S |
probably benign |
Het |
| Tmc6 |
T |
C |
11: 117,665,901 (GRCm39) |
M338V |
possibly damaging |
Het |
| Tnfrsf17 |
A |
T |
16: 11,137,819 (GRCm39) |
R185S |
possibly damaging |
Het |
| Utp20 |
T |
C |
10: 88,583,157 (GRCm39) |
K2732R |
probably damaging |
Het |
| Vmn1r58 |
A |
T |
7: 5,414,080 (GRCm39) |
V50E |
probably damaging |
Het |
| Vmn2r114 |
T |
A |
17: 23,528,836 (GRCm39) |
D422V |
possibly damaging |
Het |
| Vmn2r83 |
A |
T |
10: 79,314,261 (GRCm39) |
I170F |
probably benign |
Het |
| Xdh |
C |
T |
17: 74,225,405 (GRCm39) |
V466I |
probably benign |
Het |
| Xndc1 |
A |
G |
7: 101,720,539 (GRCm39) |
I6V |
possibly damaging |
Het |
| Zbtb38 |
T |
C |
9: 96,567,623 (GRCm39) |
T1154A |
probably benign |
Het |
| Zfp160 |
T |
A |
17: 21,246,867 (GRCm39) |
H472Q |
probably damaging |
Het |
| Zfp438 |
T |
A |
18: 5,213,417 (GRCm39) |
T514S |
possibly 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 |
|
|
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'- AGAGCCCTTTGTGGAATATCCTC -3'
(R):5'- CCACTTTGAGGGTCTAGGATAGG -3'
Sequencing Primer
(F):5'- TGTGGAATATCCTCGCTGCCAG -3'
(R):5'- AGGAATCTAAGCATTTGTCTGTCCC -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation