Incidental Mutation 'IGL02937:Idh2'
ID |
364344 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Idh2
|
Ensembl Gene |
ENSMUSG00000030541 |
Gene Name |
isocitrate dehydrogenase 2 (NADP+), mitochondrial |
Synonyms |
Idh-2, IDPm |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02937
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
79744594-79765140 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 79748661 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 179
(Y179C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118184
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107384]
[ENSMUST00000125542]
[ENSMUST00000134328]
[ENSMUST00000164056]
[ENSMUST00000206714]
|
AlphaFold |
P54071 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000107384
AA Change: Y179C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000103007 Gene: ENSMUSG00000030541 AA Change: Y179C
Domain | Start | End | E-Value | Type |
Iso_dh
|
49 |
441 |
5.32e-135 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000125542
AA Change: Y101C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134070
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000134328
AA Change: Y179C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000118184 Gene: ENSMUSG00000030541 AA Change: Y179C
Domain | Start | End | E-Value | Type |
Iso_dh
|
49 |
284 |
1.59e-8 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139178
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156761
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000164056
|
SMART Domains |
Protein: ENSMUSP00000132361 Gene: ENSMUSG00000048897
Domain | Start | End | E-Value | Type |
low complexity region
|
13 |
28 |
N/A |
INTRINSIC |
low complexity region
|
76 |
88 |
N/A |
INTRINSIC |
low complexity region
|
106 |
127 |
N/A |
INTRINSIC |
low complexity region
|
169 |
181 |
N/A |
INTRINSIC |
low complexity region
|
187 |
201 |
N/A |
INTRINSIC |
ZnF_C2H2
|
297 |
319 |
2.71e-2 |
SMART |
ZnF_C2H2
|
325 |
347 |
1.92e-2 |
SMART |
ZnF_C2H2
|
353 |
375 |
2.71e-2 |
SMART |
ZnF_C2H2
|
381 |
403 |
1.18e-2 |
SMART |
ZnF_C2H2
|
409 |
431 |
1.67e-2 |
SMART |
ZnF_C2H2
|
437 |
459 |
4.87e-4 |
SMART |
ZnF_C2H2
|
465 |
487 |
3.83e-2 |
SMART |
ZnF_C2H2
|
493 |
515 |
2.12e-4 |
SMART |
ZnF_C2H2
|
521 |
543 |
3.63e-3 |
SMART |
ZnF_C2H2
|
549 |
571 |
1.58e-3 |
SMART |
ZnF_C2H2
|
577 |
600 |
3.69e-4 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206714
|
Coding Region Coverage |
|
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 mitochondria. It plays a role in intermediary metabolism and energy production. This protein may tightly associate or interact with the pyruvate dehydrogenase complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014] PHENOTYPE: Mice homozygous for a knock-out allele exhibit suppression of tumorigenesis from B16F10 melanoma cells. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4931406C07Rik |
C |
T |
9: 15,206,049 (GRCm39) |
C21Y |
probably damaging |
Het |
4933427D06Rik |
T |
C |
6: 89,085,127 (GRCm39) |
|
noncoding transcript |
Het |
5730480H06Rik |
A |
G |
5: 48,536,783 (GRCm39) |
I160V |
probably benign |
Het |
Arhgap29 |
G |
A |
3: 121,767,698 (GRCm39) |
E47K |
probably damaging |
Het |
Arhgef12 |
T |
A |
9: 42,927,216 (GRCm39) |
S303C |
probably damaging |
Het |
Bap1 |
A |
G |
14: 30,980,284 (GRCm39) |
N644S |
probably benign |
Het |
Cc2d1b |
A |
G |
4: 108,489,091 (GRCm39) |
E796G |
probably damaging |
Het |
Cfh |
C |
A |
1: 140,033,180 (GRCm39) |
R788L |
probably benign |
Het |
Cldn1 |
A |
G |
16: 26,179,623 (GRCm39) |
F148S |
probably damaging |
Het |
Cryzl1 |
A |
G |
16: 91,487,619 (GRCm39) |
M292T |
possibly damaging |
Het |
Cyp11b1 |
T |
C |
15: 74,708,408 (GRCm39) |
R385G |
possibly damaging |
Het |
Cyp4f37 |
T |
C |
17: 32,844,163 (GRCm39) |
L89P |
probably benign |
Het |
Dach1 |
A |
G |
14: 98,153,231 (GRCm39) |
|
probably null |
Het |
Dhtkd1 |
A |
G |
2: 5,922,716 (GRCm39) |
I481T |
possibly damaging |
Het |
Dlx5 |
A |
T |
6: 6,881,755 (GRCm39) |
D44E |
probably damaging |
Het |
Dsg1a |
T |
A |
18: 20,464,591 (GRCm39) |
I362N |
possibly damaging |
Het |
Ecm2 |
T |
A |
13: 49,671,952 (GRCm39) |
I151N |
probably damaging |
Het |
Far1 |
T |
A |
7: 113,139,855 (GRCm39) |
I101N |
probably damaging |
Het |
Gm21985 |
T |
C |
2: 112,172,207 (GRCm39) |
S384P |
probably benign |
Het |
Gnb5 |
T |
C |
9: 75,247,471 (GRCm39) |
Y247H |
probably damaging |
Het |
Golgb1 |
A |
G |
16: 36,736,572 (GRCm39) |
K1940E |
probably damaging |
Het |
Gprc5b |
A |
G |
7: 118,583,017 (GRCm39) |
V284A |
probably benign |
Het |
Kalrn |
G |
A |
16: 34,040,500 (GRCm39) |
Q737* |
probably null |
Het |
Kcnj13 |
T |
C |
1: 87,314,175 (GRCm39) |
D349G |
probably damaging |
Het |
Lgsn |
A |
T |
1: 31,243,318 (GRCm39) |
T467S |
possibly damaging |
Het |
Map9 |
T |
A |
3: 82,270,819 (GRCm39) |
S128T |
possibly damaging |
Het |
Mroh5 |
A |
G |
15: 73,661,827 (GRCm39) |
C455R |
probably damaging |
Het |
Nes |
A |
G |
3: 87,887,186 (GRCm39) |
H1771R |
probably benign |
Het |
Nkain2 |
T |
C |
10: 32,205,840 (GRCm39) |
Y65C |
probably damaging |
Het |
Or51a43 |
T |
A |
7: 103,718,056 (GRCm39) |
M61L |
probably damaging |
Het |
Or51b6b |
A |
T |
7: 103,310,112 (GRCm39) |
V115D |
probably damaging |
Het |
Or6aa1 |
T |
C |
7: 86,043,798 (GRCm39) |
K303E |
possibly damaging |
Het |
Pabpc4l |
A |
C |
3: 46,400,725 (GRCm39) |
D306E |
probably benign |
Het |
Parp12 |
A |
T |
6: 39,079,515 (GRCm39) |
Y332N |
probably damaging |
Het |
Parvb |
A |
T |
15: 84,193,154 (GRCm39) |
K316M |
probably damaging |
Het |
Pde8a |
T |
A |
7: 80,945,519 (GRCm39) |
|
probably benign |
Het |
Polq |
A |
G |
16: 36,833,471 (GRCm39) |
T55A |
probably benign |
Het |
Ppp2r5b |
T |
A |
19: 6,281,016 (GRCm39) |
K271M |
probably damaging |
Het |
Ralgapb |
A |
G |
2: 158,334,936 (GRCm39) |
|
probably null |
Het |
Rigi |
C |
T |
4: 40,229,661 (GRCm39) |
C86Y |
probably benign |
Het |
Skap2 |
T |
C |
6: 51,886,351 (GRCm39) |
N175D |
probably benign |
Het |
Slc44a3 |
A |
G |
3: 121,303,970 (GRCm39) |
|
probably benign |
Het |
Smurf2 |
G |
A |
11: 106,736,873 (GRCm39) |
H318Y |
probably damaging |
Het |
Tbc1d23 |
T |
C |
16: 57,004,778 (GRCm39) |
T460A |
possibly damaging |
Het |
Tcerg1 |
T |
C |
18: 42,657,414 (GRCm39) |
S299P |
unknown |
Het |
Tll1 |
A |
C |
8: 64,658,319 (GRCm39) |
Y33* |
probably null |
Het |
Tmem59 |
A |
T |
4: 107,054,782 (GRCm39) |
T196S |
probably damaging |
Het |
Ttll4 |
C |
A |
1: 74,718,662 (GRCm39) |
A171D |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,641,513 (GRCm39) |
T13528A |
possibly damaging |
Het |
Ttn |
A |
G |
2: 76,717,621 (GRCm39) |
|
probably benign |
Het |
Xpc |
C |
A |
6: 91,477,119 (GRCm39) |
G327W |
probably damaging |
Het |
Zbtb7a |
A |
G |
10: 80,980,132 (GRCm39) |
S109G |
probably benign |
Het |
Zfyve26 |
T |
C |
12: 79,285,794 (GRCm39) |
M2328V |
probably benign |
Het |
|
Other mutations in Idh2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01529:Idh2
|
APN |
7 |
79,747,693 (GRCm39) |
missense |
probably benign |
|
IGL02281:Idh2
|
APN |
7 |
79,745,550 (GRCm39) |
splice site |
probably null |
|
IGL02874:Idh2
|
APN |
7 |
79,747,621 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02892:Idh2
|
APN |
7 |
79,745,418 (GRCm39) |
missense |
probably benign |
|
IGL02989:Idh2
|
APN |
7 |
79,748,856 (GRCm39) |
missense |
probably damaging |
1.00 |
R0040:Idh2
|
UTSW |
7 |
79,747,570 (GRCm39) |
missense |
probably damaging |
1.00 |
R0040:Idh2
|
UTSW |
7 |
79,747,570 (GRCm39) |
missense |
probably damaging |
1.00 |
R0090:Idh2
|
UTSW |
7 |
79,747,662 (GRCm39) |
missense |
probably damaging |
1.00 |
R0322:Idh2
|
UTSW |
7 |
79,748,005 (GRCm39) |
missense |
probably damaging |
1.00 |
R0384:Idh2
|
UTSW |
7 |
79,748,005 (GRCm39) |
missense |
probably damaging |
1.00 |
R0385:Idh2
|
UTSW |
7 |
79,748,005 (GRCm39) |
missense |
probably damaging |
1.00 |
R0386:Idh2
|
UTSW |
7 |
79,748,005 (GRCm39) |
missense |
probably damaging |
1.00 |
R0387:Idh2
|
UTSW |
7 |
79,748,005 (GRCm39) |
missense |
probably damaging |
1.00 |
R0494:Idh2
|
UTSW |
7 |
79,748,005 (GRCm39) |
missense |
probably damaging |
1.00 |
R1603:Idh2
|
UTSW |
7 |
79,748,906 (GRCm39) |
missense |
probably damaging |
1.00 |
R1681:Idh2
|
UTSW |
7 |
79,748,906 (GRCm39) |
missense |
probably damaging |
1.00 |
R1711:Idh2
|
UTSW |
7 |
79,748,906 (GRCm39) |
missense |
probably damaging |
1.00 |
R1844:Idh2
|
UTSW |
7 |
79,748,625 (GRCm39) |
missense |
probably benign |
0.31 |
R3700:Idh2
|
UTSW |
7 |
79,748,895 (GRCm39) |
missense |
probably damaging |
1.00 |
R4941:Idh2
|
UTSW |
7 |
79,745,847 (GRCm39) |
missense |
probably damaging |
0.98 |
R5234:Idh2
|
UTSW |
7 |
79,745,853 (GRCm39) |
missense |
probably damaging |
0.99 |
R5387:Idh2
|
UTSW |
7 |
79,748,079 (GRCm39) |
intron |
probably benign |
|
R5582:Idh2
|
UTSW |
7 |
79,748,087 (GRCm39) |
frame shift |
probably null |
|
R5655:Idh2
|
UTSW |
7 |
79,747,996 (GRCm39) |
missense |
probably damaging |
0.99 |
R6191:Idh2
|
UTSW |
7 |
79,748,079 (GRCm39) |
intron |
probably benign |
|
R6261:Idh2
|
UTSW |
7 |
79,748,077 (GRCm39) |
intron |
probably benign |
|
R6311:Idh2
|
UTSW |
7 |
79,748,079 (GRCm39) |
intron |
probably benign |
|
R6351:Idh2
|
UTSW |
7 |
79,748,079 (GRCm39) |
intron |
probably benign |
|
R6413:Idh2
|
UTSW |
7 |
79,748,079 (GRCm39) |
intron |
probably benign |
|
R6561:Idh2
|
UTSW |
7 |
79,748,079 (GRCm39) |
intron |
probably benign |
|
R6709:Idh2
|
UTSW |
7 |
79,748,079 (GRCm39) |
intron |
probably benign |
|
R6772:Idh2
|
UTSW |
7 |
79,748,079 (GRCm39) |
intron |
probably benign |
|
R6781:Idh2
|
UTSW |
7 |
79,748,079 (GRCm39) |
intron |
probably benign |
|
R6848:Idh2
|
UTSW |
7 |
79,748,079 (GRCm39) |
intron |
probably benign |
|
R6861:Idh2
|
UTSW |
7 |
79,747,966 (GRCm39) |
missense |
probably damaging |
1.00 |
R6899:Idh2
|
UTSW |
7 |
79,748,079 (GRCm39) |
intron |
probably benign |
|
R7063:Idh2
|
UTSW |
7 |
79,745,432 (GRCm39) |
missense |
probably damaging |
1.00 |
R7076:Idh2
|
UTSW |
7 |
79,748,079 (GRCm39) |
intron |
probably benign |
|
R7081:Idh2
|
UTSW |
7 |
79,748,077 (GRCm39) |
intron |
probably benign |
|
R7090:Idh2
|
UTSW |
7 |
79,748,079 (GRCm39) |
intron |
probably benign |
|
R7254:Idh2
|
UTSW |
7 |
79,748,079 (GRCm39) |
frame shift |
probably null |
|
R7298:Idh2
|
UTSW |
7 |
79,748,079 (GRCm39) |
intron |
probably benign |
|
R7401:Idh2
|
UTSW |
7 |
79,748,077 (GRCm39) |
intron |
probably benign |
|
R7560:Idh2
|
UTSW |
7 |
79,748,079 (GRCm39) |
frame shift |
probably null |
|
R7561:Idh2
|
UTSW |
7 |
79,748,079 (GRCm39) |
intron |
probably benign |
|
R7694:Idh2
|
UTSW |
7 |
79,748,079 (GRCm39) |
intron |
probably benign |
|
R7816:Idh2
|
UTSW |
7 |
79,748,079 (GRCm39) |
intron |
probably benign |
|
R7884:Idh2
|
UTSW |
7 |
79,748,077 (GRCm39) |
intron |
probably benign |
|
R7919:Idh2
|
UTSW |
7 |
79,748,079 (GRCm39) |
intron |
probably benign |
|
R7961:Idh2
|
UTSW |
7 |
79,748,001 (GRCm39) |
missense |
probably benign |
0.18 |
R8009:Idh2
|
UTSW |
7 |
79,748,001 (GRCm39) |
missense |
probably benign |
0.18 |
R8036:Idh2
|
UTSW |
7 |
79,748,079 (GRCm39) |
intron |
probably benign |
|
R8162:Idh2
|
UTSW |
7 |
79,748,077 (GRCm39) |
intron |
probably benign |
|
R8321:Idh2
|
UTSW |
7 |
79,748,079 (GRCm39) |
intron |
probably benign |
|
R8451:Idh2
|
UTSW |
7 |
79,748,079 (GRCm39) |
intron |
probably benign |
|
R8488:Idh2
|
UTSW |
7 |
79,748,077 (GRCm39) |
intron |
probably benign |
|
R8501:Idh2
|
UTSW |
7 |
79,748,079 (GRCm39) |
intron |
probably benign |
|
R8671:Idh2
|
UTSW |
7 |
79,748,079 (GRCm39) |
intron |
probably benign |
|
R8673:Idh2
|
UTSW |
7 |
79,748,079 (GRCm39) |
intron |
probably benign |
|
R8707:Idh2
|
UTSW |
7 |
79,748,077 (GRCm39) |
intron |
probably benign |
|
R8725:Idh2
|
UTSW |
7 |
79,748,079 (GRCm39) |
frame shift |
probably null |
|
R8863:Idh2
|
UTSW |
7 |
79,748,079 (GRCm39) |
intron |
probably benign |
|
R8872:Idh2
|
UTSW |
7 |
79,748,079 (GRCm39) |
intron |
probably benign |
|
R8892:Idh2
|
UTSW |
7 |
79,748,079 (GRCm39) |
intron |
probably benign |
|
R8915:Idh2
|
UTSW |
7 |
79,748,079 (GRCm39) |
intron |
probably benign |
|
R8935:Idh2
|
UTSW |
7 |
79,764,946 (GRCm39) |
missense |
probably benign |
0.00 |
R8951:Idh2
|
UTSW |
7 |
79,748,079 (GRCm39) |
intron |
probably benign |
|
R8954:Idh2
|
UTSW |
7 |
79,748,079 (GRCm39) |
intron |
probably benign |
|
R8985:Idh2
|
UTSW |
7 |
79,748,079 (GRCm39) |
intron |
probably benign |
|
R9101:Idh2
|
UTSW |
7 |
79,748,079 (GRCm39) |
intron |
probably benign |
|
R9111:Idh2
|
UTSW |
7 |
79,748,079 (GRCm39) |
intron |
probably benign |
|
R9138:Idh2
|
UTSW |
7 |
79,748,079 (GRCm39) |
frame shift |
probably null |
|
R9138:Idh2
|
UTSW |
7 |
79,748,077 (GRCm39) |
intron |
probably benign |
|
R9140:Idh2
|
UTSW |
7 |
79,748,079 (GRCm39) |
intron |
probably benign |
|
R9555:Idh2
|
UTSW |
7 |
79,748,079 (GRCm39) |
intron |
probably benign |
|
R9580:Idh2
|
UTSW |
7 |
79,748,079 (GRCm39) |
intron |
probably benign |
|
R9614:Idh2
|
UTSW |
7 |
79,747,925 (GRCm39) |
nonsense |
probably null |
|
R9619:Idh2
|
UTSW |
7 |
79,748,079 (GRCm39) |
intron |
probably benign |
|
R9697:Idh2
|
UTSW |
7 |
79,748,079 (GRCm39) |
intron |
probably benign |
|
R9756:Idh2
|
UTSW |
7 |
79,748,079 (GRCm39) |
intron |
probably benign |
|
R9790:Idh2
|
UTSW |
7 |
79,748,079 (GRCm39) |
intron |
probably benign |
|
RF030:Idh2
|
UTSW |
7 |
79,748,077 (GRCm39) |
intron |
probably benign |
|
|
Posted On |
2015-12-18 |