Incidental Mutation 'R1535:Idh1'
| ID |
166854 |
| 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 |
039574-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1535 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
65197775-65225638 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 65207697 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Arginine
at position 161
(G161R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139906
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097709]
[ENSMUST00000149310]
[ENSMUST00000169032]
[ENSMUST00000186222]
[ENSMUST00000188109]
[ENSMUST00000188876]
|
| AlphaFold |
O88844 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000097709
AA Change: G161R
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000095316
Gene: ENSMUSG00000025950
AA Change: G161R
| 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: G161R
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000127307
Gene: ENSMUSG00000025950
AA Change: G161R
| 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: G161R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000140757
Gene: ENSMUSG00000025950
AA Change: G161R
| Domain | Start | End | E-Value | Type |
|---|
|
Iso_dh
|
9 |
202 |
1.1e-10 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000188876
AA Change: G161R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000139906
Gene: ENSMUSG00000025950
AA Change: G161R
| Domain | Start | End | E-Value | Type |
|---|
|
Iso_dh
|
9 |
187 |
2.2e-9 |
SMART |
|
| Meta Mutation Damage Score |
0.3503 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 93.2%
|
| Validation Efficiency |
100% (75/75) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110009E18Rik |
T |
C |
1: 120,099,203 (GRCm39) |
S99P |
possibly damaging |
Het |
| Abca16 |
T |
A |
7: 120,139,928 (GRCm39) |
I1530N |
probably benign |
Het |
| Abcc9 |
T |
G |
6: 142,610,361 (GRCm39) |
Q601P |
probably damaging |
Het |
| Acap3 |
A |
G |
4: 155,980,631 (GRCm39) |
|
probably benign |
Het |
| Adamts16 |
A |
T |
13: 70,939,913 (GRCm39) |
|
probably null |
Het |
| Alpk2 |
G |
C |
18: 65,483,275 (GRCm39) |
S244R |
probably benign |
Het |
| Aoc1l1 |
T |
C |
6: 48,952,398 (GRCm39) |
F108L |
probably damaging |
Het |
| Atp8b1 |
C |
T |
18: 64,678,335 (GRCm39) |
V854M |
probably damaging |
Het |
| Bend5 |
C |
A |
4: 111,316,960 (GRCm39) |
D374E |
probably benign |
Het |
| Catsperg2 |
T |
C |
7: 29,397,671 (GRCm39) |
D1014G |
possibly damaging |
Het |
| Ccer2 |
G |
T |
7: 28,456,822 (GRCm39) |
G189* |
probably null |
Het |
| Ces2h |
A |
G |
8: 105,741,118 (GRCm39) |
T37A |
probably benign |
Het |
| Cfap68 |
C |
T |
9: 50,675,307 (GRCm39) |
R40Q |
probably damaging |
Het |
| Cmah |
T |
C |
13: 24,623,203 (GRCm39) |
F213L |
probably damaging |
Het |
| Cntn2 |
T |
C |
1: 132,453,122 (GRCm39) |
E390G |
probably benign |
Het |
| Coq7 |
C |
T |
7: 118,128,897 (GRCm39) |
R46Q |
possibly damaging |
Het |
| Cpb1 |
T |
A |
3: 20,320,451 (GRCm39) |
D136V |
probably benign |
Het |
| Cxcr2 |
T |
C |
1: 74,198,217 (GRCm39) |
L237P |
probably damaging |
Het |
| Daam1 |
T |
C |
12: 71,998,692 (GRCm39) |
L549P |
unknown |
Het |
| Diaph1 |
A |
G |
18: 38,029,146 (GRCm39) |
|
probably null |
Het |
| Dis3 |
G |
T |
14: 99,316,862 (GRCm39) |
Q825K |
probably damaging |
Het |
| Dnah11 |
C |
T |
12: 117,982,465 (GRCm39) |
R2568Q |
probably damaging |
Het |
| Dnah12 |
A |
T |
14: 26,538,279 (GRCm39) |
R2312S |
possibly damaging |
Het |
| Dock9 |
C |
T |
14: 121,783,476 (GRCm39) |
E2041K |
probably damaging |
Het |
| Eci1 |
A |
G |
17: 24,658,064 (GRCm39) |
E282G |
probably benign |
Het |
| Egf |
T |
A |
3: 129,484,427 (GRCm39) |
T464S |
probably benign |
Het |
| Eif4g3 |
C |
T |
4: 137,824,613 (GRCm39) |
P97S |
probably damaging |
Het |
| Emsy |
A |
G |
7: 98,242,944 (GRCm39) |
V1065A |
possibly damaging |
Het |
| Ep400 |
G |
T |
5: 110,856,032 (GRCm39) |
|
probably benign |
Het |
| Fam13a |
A |
C |
6: 58,916,332 (GRCm39) |
I607S |
probably damaging |
Het |
| Fam241b |
A |
G |
10: 61,944,728 (GRCm39) |
S113P |
probably damaging |
Het |
| Fbxl21 |
A |
T |
13: 56,671,340 (GRCm39) |
M1L |
probably benign |
Het |
| Fnip2 |
C |
A |
3: 79,389,072 (GRCm39) |
C553F |
probably damaging |
Het |
| Frmd3 |
G |
T |
4: 73,931,995 (GRCm39) |
|
probably benign |
Het |
| Grm4 |
G |
A |
17: 27,653,775 (GRCm39) |
S470L |
probably benign |
Het |
| Gucy2e |
T |
A |
11: 69,117,070 (GRCm39) |
I784F |
probably damaging |
Het |
| H1f10 |
T |
C |
6: 87,958,130 (GRCm39) |
Y70C |
probably damaging |
Het |
| Hmcn2 |
A |
T |
2: 31,310,419 (GRCm39) |
T3338S |
possibly damaging |
Het |
| Idi1 |
T |
C |
13: 8,936,945 (GRCm39) |
|
probably benign |
Het |
| Idi2l |
A |
T |
13: 8,990,680 (GRCm39) |
|
probably benign |
Het |
| Kcnq2 |
C |
T |
2: 180,776,618 (GRCm39) |
G90S |
probably damaging |
Het |
| Klhl29 |
A |
G |
12: 5,134,486 (GRCm39) |
Y642H |
probably damaging |
Het |
| Lmtk3 |
T |
A |
7: 45,443,994 (GRCm39) |
|
probably benign |
Het |
| Macf1 |
A |
T |
4: 123,334,486 (GRCm39) |
F4420I |
probably benign |
Het |
| Me1 |
A |
G |
9: 86,469,096 (GRCm39) |
S470P |
probably damaging |
Het |
| Mfsd2b |
A |
G |
12: 4,920,605 (GRCm39) |
S71P |
probably damaging |
Het |
| Mfsd3 |
T |
C |
15: 76,586,979 (GRCm39) |
L273P |
probably damaging |
Het |
| Mical1 |
A |
G |
10: 41,361,207 (GRCm39) |
K757R |
possibly damaging |
Het |
| Myh9 |
A |
T |
15: 77,662,013 (GRCm39) |
V782D |
probably damaging |
Het |
| Nab2 |
C |
G |
10: 127,500,916 (GRCm39) |
E59Q |
probably damaging |
Het |
| Nfyc |
A |
T |
4: 120,618,921 (GRCm39) |
N244K |
probably damaging |
Het |
| Nupr2 |
A |
G |
5: 129,937,672 (GRCm39) |
I80M |
probably damaging |
Het |
| Or4c15b |
T |
C |
2: 89,113,401 (GRCm39) |
I46M |
probably benign |
Het |
| Or51f1d |
A |
G |
7: 102,700,576 (GRCm39) |
T24A |
probably benign |
Het |
| Or5a1 |
A |
G |
19: 12,097,696 (GRCm39) |
C115R |
probably damaging |
Het |
| Pkn3 |
A |
G |
2: 29,977,065 (GRCm39) |
T602A |
probably benign |
Het |
| Prrc2b |
T |
A |
2: 32,094,301 (GRCm39) |
V561D |
probably benign |
Het |
| Psd2 |
T |
A |
18: 36,138,843 (GRCm39) |
V489E |
probably benign |
Het |
| Rasal2 |
T |
C |
1: 157,057,629 (GRCm39) |
T181A |
probably benign |
Het |
| Serpinb13 |
T |
C |
1: 106,909,886 (GRCm39) |
M1T |
probably null |
Het |
| Sgsm1 |
A |
T |
5: 113,411,135 (GRCm39) |
S864T |
possibly damaging |
Het |
| Slc5a10 |
C |
A |
11: 61,564,767 (GRCm39) |
G404V |
possibly damaging |
Het |
| Slc6a1 |
G |
T |
6: 114,284,731 (GRCm39) |
G263V |
probably damaging |
Het |
| Son |
A |
G |
16: 91,456,622 (GRCm39) |
K1790E |
probably damaging |
Het |
| Spata31e5 |
T |
C |
1: 28,816,505 (GRCm39) |
E509G |
probably damaging |
Het |
| Syde2 |
A |
G |
3: 145,708,176 (GRCm39) |
|
probably benign |
Het |
| Tmem126a |
T |
C |
7: 90,102,026 (GRCm39) |
I58V |
probably benign |
Het |
| Vmn2r8 |
T |
C |
5: 108,950,040 (GRCm39) |
Y269C |
probably damaging |
Het |
| Wdr87-ps |
C |
T |
7: 29,229,004 (GRCm39) |
|
noncoding transcript |
Het |
| Yeats2 |
T |
A |
16: 20,008,115 (GRCm39) |
S416T |
probably damaging |
Het |
| Zfp40 |
A |
T |
17: 23,394,843 (GRCm39) |
H513Q |
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 |
|
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 |
|
|
R9326:Idh1
|
UTSW |
1 |
65,205,416 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAATGTGTGGAGGTCAGGACAACC -3'
(R):5'- CTGCTGGTGTTTGGCTCCAAAATC -3'
Sequencing Primer
(F):5'- ccacaaaaccaccctccc -3'
(R):5'- GTTTGGCTCCAAAATCTATTTTTACC -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation