Incidental Mutation 'R1172:Idh1'
| ID |
99518 |
| 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 |
039245-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1172 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
65197775-65225638 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 65200319 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 348
(N348K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127307
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097709]
[ENSMUST00000169032]
|
| AlphaFold |
O88844 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000097709
AA Change: N348K
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000095316
Gene: ENSMUSG00000025950
AA Change: N348K
| Domain | Start | End | E-Value | Type |
|---|
|
Iso_dh
|
9 |
401 |
1.05e-133 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169032
AA Change: N348K
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000127307
Gene: ENSMUSG00000025950
AA Change: N348K
| Domain | Start | End | E-Value | Type |
|---|
|
Iso_dh
|
9 |
401 |
1.05e-133 |
SMART |
|
| Meta Mutation Damage Score |
0.0624 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.5%
|
| Validation Efficiency |
98% (62/63) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Accsl |
A |
T |
2: 93,696,589 (GRCm39) |
|
probably benign |
Het |
| Adam7 |
T |
G |
14: 68,752,370 (GRCm39) |
K371N |
probably damaging |
Het |
| Adgrv1 |
A |
T |
13: 81,705,182 (GRCm39) |
S1543T |
probably damaging |
Het |
| Agbl4 |
A |
T |
4: 111,513,515 (GRCm39) |
|
probably benign |
Het |
| Arid1b |
T |
A |
17: 5,389,575 (GRCm39) |
I1707N |
probably damaging |
Het |
| Atp10a |
T |
C |
7: 58,453,514 (GRCm39) |
V864A |
probably benign |
Het |
| Bivm |
A |
G |
1: 44,165,942 (GRCm39) |
T131A |
probably benign |
Het |
| Bst1 |
A |
G |
5: 43,982,750 (GRCm39) |
|
probably null |
Het |
| C9orf72 |
C |
A |
4: 35,218,630 (GRCm39) |
E76D |
probably damaging |
Het |
| Cblb |
T |
C |
16: 52,006,603 (GRCm39) |
|
probably benign |
Het |
| Ccdc28b |
T |
C |
4: 129,514,682 (GRCm39) |
|
probably benign |
Het |
| Cmas |
G |
T |
6: 142,702,604 (GRCm39) |
G36C |
probably benign |
Het |
| Eml6 |
A |
G |
11: 29,699,824 (GRCm39) |
S1771P |
possibly damaging |
Het |
| Epc1 |
A |
C |
18: 6,490,525 (GRCm39) |
Y31D |
probably damaging |
Het |
| Fbn1 |
A |
T |
2: 125,236,607 (GRCm39) |
C358S |
probably benign |
Het |
| Fbxl13 |
A |
T |
5: 21,825,602 (GRCm39) |
|
probably benign |
Het |
| Fermt2 |
T |
C |
14: 45,697,425 (GRCm39) |
D642G |
possibly damaging |
Het |
| Fmnl2 |
A |
T |
2: 52,962,286 (GRCm39) |
N257I |
probably damaging |
Het |
| Fry |
G |
A |
5: 150,404,959 (GRCm39) |
W793* |
probably null |
Het |
| Fsd2 |
T |
C |
7: 81,209,518 (GRCm39) |
D108G |
probably benign |
Het |
| Glipr1l2 |
C |
A |
10: 111,919,371 (GRCm39) |
L31I |
possibly damaging |
Het |
| Gm10608 |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,784 (GRCm39) |
|
probably null |
Het |
| Gm10801 |
C |
T |
2: 98,494,252 (GRCm39) |
|
probably benign |
Het |
| Gm21718 |
T |
C |
14: 51,553,348 (GRCm39) |
|
noncoding transcript |
Het |
| Gpld1 |
A |
G |
13: 25,141,549 (GRCm39) |
|
probably null |
Het |
| Gtf3c2 |
A |
T |
5: 31,325,419 (GRCm39) |
Y500N |
probably damaging |
Het |
| Hbs1l |
A |
G |
10: 21,180,537 (GRCm39) |
D73G |
probably damaging |
Het |
| Kank4 |
T |
C |
4: 98,653,806 (GRCm39) |
Y874C |
probably damaging |
Het |
| Lamc2 |
A |
T |
1: 153,042,033 (GRCm39) |
S34T |
probably damaging |
Het |
| Laptm4a |
T |
C |
12: 8,986,716 (GRCm39) |
V258A |
probably damaging |
Het |
| Lrrc19 |
A |
T |
4: 94,526,626 (GRCm39) |
Y310* |
probably null |
Het |
| Map3k5 |
G |
A |
10: 19,932,394 (GRCm39) |
|
probably benign |
Het |
| Map7 |
G |
A |
10: 20,121,045 (GRCm39) |
E92K |
probably damaging |
Het |
| Mettl24 |
G |
A |
10: 40,613,704 (GRCm39) |
A148T |
probably benign |
Het |
| Mosmo |
A |
G |
7: 120,329,745 (GRCm39) |
Y122C |
probably benign |
Het |
| Ncr1 |
T |
A |
7: 4,341,120 (GRCm39) |
I37N |
probably benign |
Het |
| Nkx3-1 |
T |
C |
14: 69,429,434 (GRCm39) |
S151P |
probably damaging |
Het |
| Npm2 |
T |
A |
14: 70,889,661 (GRCm39) |
K54* |
probably null |
Het |
| Npr1 |
T |
A |
3: 90,368,689 (GRCm39) |
D457V |
probably benign |
Het |
| Nudt21 |
T |
C |
8: 94,757,757 (GRCm39) |
|
probably benign |
Het |
| Pcnt |
A |
T |
10: 76,228,878 (GRCm39) |
|
probably null |
Het |
| Pik3r4 |
G |
T |
9: 105,540,373 (GRCm39) |
G754C |
probably damaging |
Het |
| Rftn2 |
A |
G |
1: 55,250,376 (GRCm39) |
V123A |
probably damaging |
Het |
| Rpa1 |
A |
T |
11: 75,203,219 (GRCm39) |
V392D |
probably damaging |
Het |
| Rxfp2 |
T |
C |
5: 149,975,021 (GRCm39) |
V210A |
probably benign |
Het |
| Slc45a4 |
C |
T |
15: 73,477,278 (GRCm39) |
|
probably benign |
Het |
| Syndig1l |
T |
A |
12: 84,725,942 (GRCm39) |
|
probably null |
Het |
| Tctn1 |
G |
A |
5: 122,389,752 (GRCm39) |
R257* |
probably null |
Het |
| Tenm4 |
A |
T |
7: 96,497,251 (GRCm39) |
E1179V |
probably damaging |
Het |
| Txlnb |
A |
G |
10: 17,718,504 (GRCm39) |
N445S |
probably benign |
Het |
| Tyrp1 |
C |
T |
4: 80,763,105 (GRCm39) |
Q331* |
probably null |
Het |
| Ubap2l |
A |
T |
3: 89,930,807 (GRCm39) |
S413T |
probably benign |
Het |
| Vdr |
A |
T |
15: 97,767,214 (GRCm39) |
Y185N |
probably benign |
Het |
| Vmn2r66 |
G |
T |
7: 84,654,799 (GRCm39) |
D503E |
probably benign |
Het |
| Vmn2r72 |
T |
A |
7: 85,401,152 (GRCm39) |
E89V |
probably damaging |
Het |
| Vmn2r87 |
T |
C |
10: 130,313,453 (GRCm39) |
T438A |
probably benign |
Het |
| Xrcc6 |
A |
G |
15: 81,915,364 (GRCm39) |
D94G |
probably damaging |
Het |
| Ywhaq |
T |
C |
12: 21,445,024 (GRCm39) |
N207S |
probably benign |
Het |
| Zfp185 |
A |
T |
X: 72,042,929 (GRCm39) |
E138D |
possibly damaging |
Het |
| Zfp981 |
G |
A |
4: 146,622,221 (GRCm39) |
S382N |
probably benign |
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 |
|
|
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 |
|
|
R9326:Idh1
|
UTSW |
1 |
65,205,416 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
|
| Posted On |
2014-01-15 |
Incidental Mutation