Incidental Mutation 'IGL03408:Idh3a'
| ID |
421678 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Idh3a
|
| Ensembl Gene |
ENSMUSG00000032279 |
| Gene Name |
isocitrate dehydrogenase 3 (NAD+) alpha |
| Synonyms |
1500012E04Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.968)
|
| Stock # |
IGL03408
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
54493795-54511946 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 54504206 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 189
(N189D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127526
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000167866]
[ENSMUST00000215273]
[ENSMUST00000217484]
|
| AlphaFold |
Q9D6R2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167866
AA Change: N189D
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000127526
Gene: ENSMUSG00000032279
AA Change: N189D
| Domain | Start | End | E-Value | Type |
|---|
|
Iso_dh
|
33 |
358 |
1.37e-169 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213729
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214136
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215273
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217484
AA Change: N207D
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| 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. NAD(+)-dependent isocitrate dehydrogenases catalyze the allosterically regulated rate-limiting step of the tricarboxylic acid cycle. Each isozyme is a heterotetramer that is composed of two alpha subunits, one beta subunit, and one gamma subunit. The protein encoded by this gene is the alpha subunit of one isozyme of NAD(+)-dependent isocitrate dehydrogenase. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for an ENU-induced mutation exhibit progressive retinal degeneration and decreased visual acuity. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
A |
T |
1: 71,303,954 (GRCm39) |
F2108I |
probably damaging |
Het |
| Aco2 |
T |
C |
15: 81,783,424 (GRCm39) |
|
probably null |
Het |
| Ccdc186 |
T |
C |
19: 56,787,163 (GRCm39) |
K602E |
probably benign |
Het |
| Ccdc85a |
T |
A |
11: 28,526,528 (GRCm39) |
H360L |
probably damaging |
Het |
| Cited2 |
A |
G |
10: 17,600,148 (GRCm39) |
H152R |
possibly damaging |
Het |
| Cluh |
C |
A |
11: 74,556,779 (GRCm39) |
R940S |
probably benign |
Het |
| Corin |
T |
A |
5: 72,500,304 (GRCm39) |
Y432F |
probably benign |
Het |
| Creb1 |
A |
G |
1: 64,615,491 (GRCm39) |
|
probably null |
Het |
| Dhx15 |
A |
T |
5: 52,317,654 (GRCm39) |
D568E |
probably damaging |
Het |
| Efcab3 |
T |
A |
11: 104,601,447 (GRCm39) |
S253R |
probably benign |
Het |
| Esam |
G |
T |
9: 37,445,949 (GRCm39) |
R162S |
possibly damaging |
Het |
| Fat3 |
T |
A |
9: 15,909,253 (GRCm39) |
K2250* |
probably null |
Het |
| Fbxl17 |
G |
A |
17: 63,387,541 (GRCm39) |
R133* |
probably null |
Het |
| Gzmc |
C |
T |
14: 56,471,473 (GRCm39) |
G23R |
probably damaging |
Het |
| Il31ra |
A |
T |
13: 112,662,422 (GRCm39) |
D462E |
probably benign |
Het |
| Inava |
T |
C |
1: 136,142,143 (GRCm39) |
Y652C |
probably benign |
Het |
| Inpp5j |
G |
A |
11: 3,452,809 (GRCm39) |
A147V |
possibly damaging |
Het |
| Kalrn |
G |
A |
16: 34,134,546 (GRCm39) |
A412V |
probably damaging |
Het |
| Lrp1b |
A |
G |
2: 40,748,594 (GRCm39) |
V2968A |
probably damaging |
Het |
| Morc1 |
G |
A |
16: 48,262,775 (GRCm39) |
G42R |
probably damaging |
Het |
| Notch4 |
T |
C |
17: 34,784,542 (GRCm39) |
L85P |
probably benign |
Het |
| Or4c52 |
G |
A |
2: 89,845,915 (GRCm39) |
V214M |
probably benign |
Het |
| Or5p73 |
A |
T |
7: 108,064,554 (GRCm39) |
N8Y |
probably damaging |
Het |
| Parp4 |
T |
A |
14: 56,839,865 (GRCm39) |
H524Q |
probably damaging |
Het |
| Pole |
T |
C |
5: 110,442,426 (GRCm39) |
F285L |
probably damaging |
Het |
| Scn9a |
A |
G |
2: 66,357,091 (GRCm39) |
M1070T |
probably benign |
Het |
| Slc25a32 |
G |
A |
15: 38,963,425 (GRCm39) |
A132V |
probably benign |
Het |
| Sult2a2 |
T |
G |
7: 13,472,154 (GRCm39) |
I117S |
probably damaging |
Het |
| Suv39h2 |
T |
C |
2: 3,460,913 (GRCm39) |
N183S |
probably damaging |
Het |
| Trhr2 |
G |
A |
8: 123,085,534 (GRCm39) |
T150M |
probably damaging |
Het |
| Usp34 |
T |
A |
11: 23,396,957 (GRCm39) |
F614I |
possibly damaging |
Het |
| Vmn2r17 |
A |
G |
5: 109,577,238 (GRCm39) |
|
probably benign |
Het |
| Wfdc2 |
T |
A |
2: 164,405,283 (GRCm39) |
C61* |
probably null |
Het |
| Zfp384 |
T |
C |
6: 125,012,676 (GRCm39) |
S377P |
probably damaging |
Het |
| Zfp945 |
A |
T |
17: 23,071,511 (GRCm39) |
Y150* |
probably null |
Het |
|
| Other mutations in Idh3a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01534:Idh3a
|
APN |
9 |
54,508,506 (GRCm39) |
splice site |
probably benign |
|
|
IGL02547:Idh3a
|
APN |
9 |
54,499,679 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02593:Idh3a
|
APN |
9 |
54,503,477 (GRCm39) |
splice site |
probably benign |
|
|
ANU23:Idh3a
|
UTSW |
9 |
54,493,829 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2496:Idh3a
|
UTSW |
9 |
54,510,633 (GRCm39) |
missense |
probably benign |
0.20 |
|
R3709:Idh3a
|
UTSW |
9 |
54,493,810 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R3877:Idh3a
|
UTSW |
9 |
54,499,679 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4962:Idh3a
|
UTSW |
9 |
54,503,325 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6054:Idh3a
|
UTSW |
9 |
54,493,829 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7246:Idh3a
|
UTSW |
9 |
54,499,756 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7426:Idh3a
|
UTSW |
9 |
54,508,492 (GRCm39) |
missense |
probably benign |
|
|
R7450:Idh3a
|
UTSW |
9 |
54,503,367 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7678:Idh3a
|
UTSW |
9 |
54,502,453 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8491:Idh3a
|
UTSW |
9 |
54,506,963 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9121:Idh3a
|
UTSW |
9 |
54,493,829 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9654:Idh3a
|
UTSW |
9 |
54,497,182 (GRCm39) |
missense |
probably benign |
|
|
Z1177:Idh3a
|
UTSW |
9 |
54,503,433 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2016-08-02 |
Incidental Mutation