Incidental Mutation 'IGL02821:Idh3b'
| ID |
360999 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Idh3b
|
| Ensembl Gene |
ENSMUSG00000027406 |
| Gene Name |
isocitrate dehydrogenase 3 (NAD+) beta |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02821
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
130121229-130126371 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 130126321 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 6
(N6I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028892
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028892]
[ENSMUST00000184538]
|
| AlphaFold |
Q91VA7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028892
AA Change: N6I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000028892
Gene: ENSMUSG00000027406
AA Change: N6I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
28 |
40 |
N/A |
INTRINSIC |
|
Iso_dh
|
49 |
375 |
1.43e-140 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124868
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149843
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184538
|
| SMART Domains |
Protein: ENSMUSP00000139331
Gene: ENSMUSG00000027406
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Iso_dh
|
6 |
71 |
1.8e-15 |
PFAM |
|
| 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 beta subunit of one isozyme of NAD(+)-dependent isocitrate dehydrogenase. Multiple alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Sep 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930474N05Rik |
T |
C |
14: 35,818,473 (GRCm39) |
L157S |
probably benign |
Het |
| Adam15 |
A |
G |
3: 89,252,663 (GRCm39) |
S309P |
probably damaging |
Het |
| Agtpbp1 |
A |
T |
13: 59,630,415 (GRCm39) |
M772K |
possibly damaging |
Het |
| Ankfn1 |
T |
C |
11: 89,282,442 (GRCm39) |
M402V |
probably benign |
Het |
| Anln |
G |
A |
9: 22,269,418 (GRCm39) |
T822I |
possibly damaging |
Het |
| Atp13a4 |
A |
G |
16: 29,260,125 (GRCm39) |
V589A |
probably benign |
Het |
| Ccm2l |
C |
T |
2: 152,909,779 (GRCm39) |
L44F |
probably damaging |
Het |
| Cd177 |
A |
T |
7: 24,443,818 (GRCm39) |
L760Q |
probably damaging |
Het |
| Cd177 |
G |
T |
7: 24,443,819 (GRCm39) |
L760M |
probably damaging |
Het |
| Cfap69 |
T |
C |
5: 5,714,017 (GRCm39) |
E5G |
probably benign |
Het |
| Col4a1 |
G |
A |
8: 11,271,375 (GRCm39) |
T753I |
probably benign |
Het |
| Col6a3 |
T |
A |
1: 90,731,600 (GRCm39) |
D1551V |
probably damaging |
Het |
| Ddx20 |
A |
G |
3: 105,586,593 (GRCm39) |
V584A |
probably benign |
Het |
| Dop1a |
C |
A |
9: 86,402,209 (GRCm39) |
H1136Q |
probably benign |
Het |
| Egf |
T |
C |
3: 129,496,128 (GRCm39) |
E329G |
probably damaging |
Het |
| Eif3c |
A |
G |
7: 126,157,831 (GRCm39) |
V337A |
probably benign |
Het |
| Eif3f |
G |
T |
7: 108,533,881 (GRCm39) |
|
probably benign |
Het |
| Eif3f |
C |
T |
7: 108,533,882 (GRCm39) |
|
probably benign |
Het |
| Evc |
T |
A |
5: 37,483,740 (GRCm39) |
I187F |
probably benign |
Het |
| Fam117a |
T |
G |
11: 95,254,815 (GRCm39) |
|
probably benign |
Het |
| H2-M10.4 |
A |
T |
17: 36,771,323 (GRCm39) |
V285E |
probably damaging |
Het |
| Hps4 |
G |
T |
5: 112,523,307 (GRCm39) |
M608I |
probably benign |
Het |
| Itgam |
A |
T |
7: 127,675,281 (GRCm39) |
M169L |
probably damaging |
Het |
| Kcnn3 |
G |
A |
3: 89,570,029 (GRCm39) |
G614D |
possibly damaging |
Het |
| Kcnn3 |
A |
G |
3: 89,428,281 (GRCm39) |
N169S |
possibly damaging |
Het |
| Mn1 |
A |
T |
5: 111,569,717 (GRCm39) |
K1229M |
probably damaging |
Het |
| Ms4a19 |
A |
G |
19: 11,118,897 (GRCm39) |
*71Q |
probably null |
Het |
| Nckap5 |
A |
G |
1: 125,955,553 (GRCm39) |
M401T |
probably damaging |
Het |
| Or1af1 |
T |
C |
2: 37,110,112 (GRCm39) |
S204P |
probably damaging |
Het |
| Or8c13 |
T |
C |
9: 38,091,964 (GRCm39) |
N52D |
possibly damaging |
Het |
| Or8d4 |
T |
G |
9: 40,038,561 (GRCm39) |
E232A |
probably benign |
Het |
| Pttg1ip2 |
G |
A |
5: 5,502,039 (GRCm39) |
Q138* |
probably null |
Het |
| Sim2 |
G |
A |
16: 93,898,047 (GRCm39) |
V94M |
probably damaging |
Het |
| Slc46a3 |
G |
A |
5: 147,822,822 (GRCm39) |
T340M |
probably benign |
Het |
| Ssc4d |
A |
G |
5: 135,994,923 (GRCm39) |
|
probably benign |
Het |
| Trav12-1 |
A |
G |
14: 53,775,916 (GRCm39) |
D22G |
probably damaging |
Het |
| Trgv4 |
T |
A |
13: 19,369,422 (GRCm39) |
D55E |
possibly damaging |
Het |
| Trps1 |
G |
A |
15: 50,524,273 (GRCm39) |
T969M |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,719,894 (GRCm39) |
|
probably benign |
Het |
| Ubqln4 |
A |
G |
3: 88,470,458 (GRCm39) |
N310S |
probably benign |
Het |
| Vapa |
T |
C |
17: 65,889,756 (GRCm39) |
|
probably benign |
Het |
| Vmn1r65 |
T |
C |
7: 6,011,893 (GRCm39) |
T114A |
possibly damaging |
Het |
| Vps13d |
T |
C |
4: 144,875,332 (GRCm39) |
E1725G |
probably damaging |
Het |
| Vps53 |
A |
G |
11: 76,027,143 (GRCm39) |
|
probably benign |
Het |
| Xkr9 |
T |
C |
1: 13,742,799 (GRCm39) |
L28P |
probably damaging |
Het |
|
| Other mutations in Idh3b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01431:Idh3b
|
APN |
2 |
130,123,817 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL03057:Idh3b
|
APN |
2 |
130,126,321 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03106:Idh3b
|
APN |
2 |
130,126,321 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03159:Idh3b
|
APN |
2 |
130,126,321 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0090:Idh3b
|
UTSW |
2 |
130,122,899 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1191:Idh3b
|
UTSW |
2 |
130,123,810 (GRCm39) |
missense |
probably benign |
0.43 |
|
R1443:Idh3b
|
UTSW |
2 |
130,125,974 (GRCm39) |
splice site |
probably null |
|
|
R1634:Idh3b
|
UTSW |
2 |
130,123,665 (GRCm39) |
missense |
probably benign |
0.39 |
|
R1644:Idh3b
|
UTSW |
2 |
130,123,430 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5784:Idh3b
|
UTSW |
2 |
130,121,591 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5847:Idh3b
|
UTSW |
2 |
130,125,948 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6469:Idh3b
|
UTSW |
2 |
130,121,593 (GRCm39) |
frame shift |
probably null |
|
|
R6473:Idh3b
|
UTSW |
2 |
130,121,593 (GRCm39) |
frame shift |
probably null |
|
|
R6532:Idh3b
|
UTSW |
2 |
130,121,593 (GRCm39) |
frame shift |
probably null |
|
|
R6536:Idh3b
|
UTSW |
2 |
130,121,593 (GRCm39) |
frame shift |
probably null |
|
|
R6959:Idh3b
|
UTSW |
2 |
130,123,447 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7019:Idh3b
|
UTSW |
2 |
130,122,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7305:Idh3b
|
UTSW |
2 |
130,123,413 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7505:Idh3b
|
UTSW |
2 |
130,126,153 (GRCm39) |
missense |
probably benign |
|
|
R7505:Idh3b
|
UTSW |
2 |
130,126,147 (GRCm39) |
missense |
probably benign |
|
|
R7608:Idh3b
|
UTSW |
2 |
130,122,900 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7887:Idh3b
|
UTSW |
2 |
130,123,678 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8165:Idh3b
|
UTSW |
2 |
130,122,420 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R8880:Idh3b
|
UTSW |
2 |
130,126,004 (GRCm39) |
unclassified |
probably benign |
|
|
R9338:Idh3b
|
UTSW |
2 |
130,122,392 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9445:Idh3b
|
UTSW |
2 |
130,123,572 (GRCm39) |
missense |
probably benign |
0.02 |
|
Z1176:Idh3b
|
UTSW |
2 |
130,123,462 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Posted On |
2015-12-18 |
Incidental Mutation