Incidental Mutation 'R8799:Idh1'
ID |
671416 |
Institutional Source |
Beutler Lab
|
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 # |
R8799 (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: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
97% (57/59) |
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700020L24Rik |
T |
A |
11: 83,331,578 (GRCm39) |
C134S |
probably damaging |
Het |
Acox3 |
T |
G |
5: 35,747,052 (GRCm39) |
F156L |
probably damaging |
Het |
Adprhl1 |
T |
C |
8: 13,272,474 (GRCm39) |
E1428G |
probably benign |
Het |
Arhgap40 |
A |
T |
2: 158,354,758 (GRCm39) |
M15L |
probably benign |
Het |
Bahcc1 |
C |
A |
11: 120,177,173 (GRCm39) |
F2020L |
probably damaging |
Het |
BC024063 |
A |
T |
10: 81,945,352 (GRCm39) |
H324L |
probably benign |
Het |
Ccdc40 |
C |
A |
11: 119,155,292 (GRCm39) |
S1177R |
probably benign |
Het |
Ccne2 |
A |
T |
4: 11,201,355 (GRCm39) |
R294S |
probably benign |
Het |
Cib1 |
A |
C |
7: 79,882,291 (GRCm39) |
S6R |
probably damaging |
Het |
Csnk2a1 |
A |
G |
2: 152,099,886 (GRCm39) |
E114G |
probably damaging |
Het |
Cxxc1 |
A |
G |
18: 74,354,128 (GRCm39) |
|
probably benign |
Het |
Decr2 |
A |
C |
17: 26,307,911 (GRCm39) |
I47M |
possibly damaging |
Het |
Dmxl2 |
A |
G |
9: 54,327,027 (GRCm39) |
|
probably null |
Het |
Dse |
G |
A |
10: 34,060,149 (GRCm39) |
|
probably benign |
Het |
Eml6 |
A |
G |
11: 29,708,981 (GRCm39) |
V1480A |
probably benign |
Het |
Erap1 |
A |
G |
13: 74,805,755 (GRCm39) |
I165M |
probably benign |
Het |
Fan1 |
G |
T |
7: 64,016,406 (GRCm39) |
Q573K |
probably damaging |
Het |
Fndc3a |
G |
A |
14: 72,793,955 (GRCm39) |
T906I |
probably benign |
Het |
Gm21915 |
A |
C |
9: 40,582,006 (GRCm39) |
H33P |
possibly damaging |
Het |
Lama3 |
G |
T |
18: 12,624,000 (GRCm39) |
Q1384H |
probably damaging |
Het |
Lrrc34 |
C |
T |
3: 30,678,979 (GRCm39) |
E373K |
probably benign |
Het |
Ly75 |
A |
G |
2: 60,178,785 (GRCm39) |
F677L |
probably damaging |
Het |
Megf11 |
A |
G |
9: 64,588,673 (GRCm39) |
D493G |
probably benign |
Het |
Mta3 |
A |
T |
17: 84,096,369 (GRCm39) |
I348F |
possibly damaging |
Het |
Myo1d |
A |
T |
11: 80,575,205 (GRCm39) |
F170L |
probably damaging |
Het |
Nfkbia |
A |
G |
12: 55,539,083 (GRCm39) |
|
probably benign |
Het |
Nfx1 |
A |
T |
4: 41,023,727 (GRCm39) |
E1045D |
probably damaging |
Het |
Npffr2 |
T |
G |
5: 89,731,177 (GRCm39) |
V369G |
probably benign |
Het |
Or14c44 |
T |
C |
7: 86,061,854 (GRCm39) |
C95R |
probably damaging |
Het |
Or4d5 |
A |
T |
9: 40,011,985 (GRCm39) |
M267K |
possibly damaging |
Het |
Or4f59 |
A |
T |
2: 111,872,528 (GRCm39) |
I283N |
probably damaging |
Het |
Or5t18 |
A |
T |
2: 86,636,575 (GRCm39) |
M256K |
probably damaging |
Het |
Or5w13 |
G |
T |
2: 87,524,057 (GRCm39) |
H56Q |
possibly damaging |
Het |
Otoa |
G |
A |
7: 120,691,894 (GRCm39) |
E41K |
possibly damaging |
Het |
Podxl |
A |
G |
6: 31,501,400 (GRCm39) |
V385A |
probably damaging |
Het |
Ppp4r4 |
C |
T |
12: 103,567,623 (GRCm39) |
T673M |
possibly damaging |
Het |
Rbm20 |
G |
T |
19: 53,821,120 (GRCm39) |
C525F |
probably damaging |
Het |
Rnf17 |
A |
T |
14: 56,737,886 (GRCm39) |
E1222D |
probably damaging |
Het |
Ros1 |
G |
A |
10: 51,922,143 (GRCm39) |
A2331V |
probably benign |
Het |
Rrs1 |
T |
A |
1: 9,615,819 (GRCm39) |
I24N |
probably damaging |
Het |
Sec11a |
A |
G |
7: 80,584,850 (GRCm39) |
V29A |
possibly damaging |
Het |
Shisa3 |
T |
A |
5: 67,768,749 (GRCm39) |
Y216* |
probably null |
Het |
Slc22a2 |
A |
T |
17: 12,831,425 (GRCm39) |
Y405F |
probably benign |
Het |
Slc2a12 |
A |
T |
10: 22,568,105 (GRCm39) |
M511L |
possibly damaging |
Het |
Slc38a9 |
T |
A |
13: 112,840,136 (GRCm39) |
H338Q |
probably damaging |
Het |
Slco1c1 |
T |
G |
6: 141,505,531 (GRCm39) |
S486A |
probably benign |
Het |
Slit2 |
T |
C |
5: 48,461,524 (GRCm39) |
S1524P |
possibly damaging |
Het |
Spata31d1c |
T |
C |
13: 65,184,140 (GRCm39) |
S561P |
possibly damaging |
Het |
Stac3 |
T |
A |
10: 127,340,781 (GRCm39) |
M182K |
probably damaging |
Het |
Stt3b |
T |
C |
9: 115,077,685 (GRCm39) |
E689G |
probably damaging |
Het |
Suclg1 |
A |
G |
6: 73,248,091 (GRCm39) |
K271E |
probably benign |
Het |
Tas1r1 |
A |
G |
4: 152,116,708 (GRCm39) |
Y309H |
probably benign |
Het |
Tbc1d5 |
TGC |
TGCCGC |
17: 51,106,969 (GRCm39) |
|
probably benign |
Het |
Tbc1d5 |
TG |
TGCGG |
17: 51,106,978 (GRCm39) |
|
probably benign |
Het |
Tbc1d5 |
TTGCTGCTGCTGCTGCTG |
TTGCTGCTGCTGCTGCTGCTG |
17: 51,106,962 (GRCm39) |
|
probably benign |
Het |
Tbc1d5 |
TGC |
TGCGGC |
17: 51,106,963 (GRCm39) |
|
probably benign |
Het |
Tmem101 |
A |
G |
11: 102,044,336 (GRCm39) |
F184L |
probably benign |
Het |
Zfp474 |
A |
G |
18: 52,772,166 (GRCm39) |
Q273R |
probably benign |
Het |
Zfyve28 |
A |
G |
5: 34,390,670 (GRCm39) |
L197P |
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 |
|
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'- AGAGCCCTTTGTGGAATATCCTC -3'
(R):5'- GCCACTTTGAGGGTCTAGGATAG -3'
Sequencing Primer
(F):5'- TGTGGAATATCCTCGCTGCCAG -3'
(R):5'- AGGAATCTAAGCATTTGTCTGTCCC -3'
|
Posted On |
2021-04-30 |