Incidental Mutation 'R6152:Idh1'
ID |
489317 |
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 |
044299-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6152 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
65197775-65225638 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 65198689 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 394
(T394A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127307
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097709]
[ENSMUST00000169032]
|
AlphaFold |
O88844 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000097709
AA Change: T394A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000095316 Gene: ENSMUSG00000025950 AA Change: T394A
Domain | Start | End | E-Value | Type |
Iso_dh
|
9 |
401 |
1.05e-133 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000169032
AA Change: T394A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000127307 Gene: ENSMUSG00000025950 AA Change: T394A
Domain | Start | End | E-Value | Type |
Iso_dh
|
9 |
401 |
1.05e-133 |
SMART |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.3%
|
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca5 |
A |
G |
11: 110,204,187 (GRCm39) |
C363R |
probably damaging |
Het |
Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
Anln |
A |
C |
9: 22,271,803 (GRCm39) |
I684R |
probably damaging |
Het |
Atoh7 |
A |
T |
10: 62,936,278 (GRCm39) |
D115V |
probably damaging |
Het |
Atp11a |
T |
A |
8: 12,896,100 (GRCm39) |
I223K |
probably damaging |
Het |
Cabs1 |
C |
T |
5: 88,127,613 (GRCm39) |
T88I |
possibly damaging |
Het |
Cblb |
T |
A |
16: 51,961,419 (GRCm39) |
C345S |
probably damaging |
Het |
Cep250 |
A |
G |
2: 155,823,358 (GRCm39) |
E1003G |
possibly damaging |
Het |
Chpf |
C |
T |
1: 75,452,287 (GRCm39) |
R389H |
possibly damaging |
Het |
Cntnap5c |
A |
G |
17: 58,593,881 (GRCm39) |
D740G |
possibly damaging |
Het |
Col19a1 |
T |
C |
1: 24,413,702 (GRCm39) |
T411A |
unknown |
Het |
Dgat2 |
T |
C |
7: 98,813,885 (GRCm39) |
N99S |
probably benign |
Het |
Fbxo7 |
A |
T |
10: 85,860,560 (GRCm39) |
T56S |
probably benign |
Het |
Gm15130 |
T |
A |
2: 110,974,950 (GRCm39) |
Q71L |
unknown |
Het |
Gpr161 |
T |
A |
1: 165,137,864 (GRCm39) |
V150E |
possibly damaging |
Het |
Hmcn1 |
T |
C |
1: 150,441,176 (GRCm39) |
E5360G |
probably damaging |
Het |
Hmg20a |
A |
G |
9: 56,388,892 (GRCm39) |
D153G |
probably damaging |
Het |
Hrct1 |
T |
A |
4: 43,727,498 (GRCm39) |
V46D |
possibly damaging |
Het |
Kazn |
A |
G |
4: 141,836,598 (GRCm39) |
I547T |
unknown |
Het |
Klhdc3 |
A |
T |
17: 46,988,633 (GRCm39) |
I142N |
probably damaging |
Het |
Lrrc39 |
G |
T |
3: 116,364,624 (GRCm39) |
|
probably null |
Het |
Mamdc4 |
T |
C |
2: 25,457,451 (GRCm39) |
D510G |
probably damaging |
Het |
Mcm2 |
TTCTGATAGATGGTCTG |
TTCTG |
6: 88,866,891 (GRCm39) |
|
probably benign |
Het |
Ndfip2 |
A |
G |
14: 105,535,538 (GRCm39) |
I275V |
possibly damaging |
Het |
Or1i2 |
T |
C |
10: 78,448,409 (GRCm39) |
D22G |
probably benign |
Het |
Or5b24 |
A |
T |
19: 12,912,851 (GRCm39) |
I250L |
probably benign |
Het |
Pacsin2 |
A |
C |
15: 83,261,900 (GRCm39) |
D154E |
probably damaging |
Het |
Pcdhb5 |
T |
A |
18: 37,455,886 (GRCm39) |
C755* |
probably null |
Het |
Pcnx2 |
T |
C |
8: 126,480,491 (GRCm39) |
S1939G |
probably damaging |
Het |
Pfkl |
A |
T |
10: 77,825,985 (GRCm39) |
H602Q |
probably benign |
Het |
Pon3 |
G |
A |
6: 5,221,716 (GRCm39) |
R305C |
probably damaging |
Het |
Prpf6 |
A |
G |
2: 181,263,580 (GRCm39) |
R147G |
probably damaging |
Het |
Sh3yl1 |
A |
G |
12: 30,992,034 (GRCm39) |
E201G |
probably benign |
Het |
Slc25a36 |
A |
G |
9: 96,982,210 (GRCm39) |
Y22H |
probably damaging |
Het |
Sult6b2 |
A |
C |
6: 142,750,102 (GRCm39) |
S5R |
probably benign |
Het |
Susd2 |
C |
T |
10: 75,473,853 (GRCm39) |
A581T |
probably damaging |
Het |
Tysnd1 |
A |
G |
10: 61,532,113 (GRCm39) |
D255G |
probably damaging |
Het |
Zbtb6 |
A |
C |
2: 37,319,255 (GRCm39) |
I224M |
probably benign |
Het |
Zdhhc8 |
G |
T |
16: 18,041,202 (GRCm39) |
N719K |
possibly damaging |
Het |
Zkscan16 |
A |
G |
4: 58,946,260 (GRCm39) |
E45G |
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 |
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 |
|
R9326:Idh1
|
UTSW |
1 |
65,205,416 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TTCCCCACCACATTCATTAAGGTG -3'
(R):5'- TCAGTCATGGCCCACAGATTTG -3'
Sequencing Primer
(F):5'- CACATTCATTAAGGTGGCAATAACTG -3'
(R):5'- GGCCCACAGATTTGTAGCTTTTTAAC -3'
|
Posted On |
2017-10-10 |