Incidental Mutation 'IGL03159:Idh3b'
ID |
411348 |
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 # |
IGL03159
|
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: 19 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts6 |
T |
A |
13: 104,580,723 (GRCm39) |
M812K |
probably damaging |
Het |
Ctnnal1 |
G |
A |
4: 56,844,599 (GRCm39) |
R122W |
probably benign |
Het |
Cyp2j7 |
A |
G |
4: 96,115,749 (GRCm39) |
|
probably benign |
Het |
Defa29 |
A |
G |
8: 21,816,978 (GRCm39) |
V5A |
possibly damaging |
Het |
Defb22 |
A |
G |
2: 152,331,995 (GRCm39) |
F13L |
probably benign |
Het |
Gmds |
C |
A |
13: 32,003,934 (GRCm39) |
D362Y |
probably damaging |
Het |
Gtf2h1 |
T |
C |
7: 46,456,167 (GRCm39) |
V179A |
possibly damaging |
Het |
Kcnk7 |
T |
C |
19: 5,756,116 (GRCm39) |
L114P |
probably damaging |
Het |
Lama1 |
G |
A |
17: 68,111,531 (GRCm39) |
G2261R |
probably damaging |
Het |
Lrrc37 |
T |
A |
11: 103,495,328 (GRCm39) |
|
probably benign |
Het |
Mfsd3 |
A |
G |
15: 76,587,101 (GRCm39) |
T285A |
probably benign |
Het |
Or5g27 |
A |
G |
2: 85,410,284 (GRCm39) |
R234G |
probably damaging |
Het |
Prrc2b |
T |
C |
2: 32,084,498 (GRCm39) |
M321T |
probably damaging |
Het |
Sf3b1 |
A |
T |
1: 55,051,372 (GRCm39) |
N185K |
probably benign |
Het |
Smo |
A |
G |
6: 29,758,504 (GRCm39) |
R550G |
probably benign |
Het |
Tbc1d31 |
T |
G |
15: 57,783,444 (GRCm39) |
|
probably null |
Het |
Uck1 |
G |
A |
2: 32,148,334 (GRCm39) |
R161C |
probably benign |
Het |
Vmn1r202 |
G |
A |
13: 22,685,640 (GRCm39) |
T259I |
probably benign |
Het |
Vmn2r72 |
A |
T |
7: 85,404,162 (GRCm39) |
F10I |
probably benign |
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 |
IGL02821:Idh3b
|
APN |
2 |
130,126,321 (GRCm39) |
missense |
probably benign |
0.00 |
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 |
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 |
2016-08-02 |