Incidental Mutation 'R1644:Idh3b'
| ID |
173738 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Idh3b
|
| Ensembl Gene |
ENSMUSG00000027406 |
| Gene Name |
isocitrate dehydrogenase 3 (NAD+) beta |
| Synonyms |
|
| MMRRC Submission |
039680-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1644 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
130121229-130126371 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 130123430 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 187
(I187V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028892
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028890]
[ENSMUST00000028892]
[ENSMUST00000103198]
[ENSMUST00000136621]
[ENSMUST00000159373]
[ENSMUST00000184538]
|
| AlphaFold |
Q91VA7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028890
|
| SMART Domains |
Protein: ENSMUSP00000028890
Gene: ENSMUSG00000027405
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:Nop
|
44 |
127 |
1.1e-26 |
PFAM |
|
coiled coil region
|
131 |
176 |
N/A |
INTRINSIC |
|
low complexity region
|
185 |
204 |
N/A |
INTRINSIC |
|
low complexity region
|
213 |
228 |
N/A |
INTRINSIC |
|
low complexity region
|
242 |
264 |
N/A |
INTRINSIC |
|
low complexity region
|
280 |
292 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000028892
AA Change: I187V
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000028892
Gene: ENSMUSG00000027406
AA Change: I187V
| 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: ENSMUST00000083338
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000083355
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000103198
|
| SMART Domains |
Protein: ENSMUSP00000099487
Gene: ENSMUSG00000027405
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NOP5NT
|
5 |
70 |
4.3e-20 |
PFAM |
|
NOSIC
|
167 |
219 |
1.18e-30 |
SMART |
|
internal_repeat_1
|
257 |
305 |
4.06e-5 |
PROSPERO |
|
coiled coil region
|
415 |
460 |
N/A |
INTRINSIC |
|
low complexity region
|
469 |
488 |
N/A |
INTRINSIC |
|
low complexity region
|
497 |
512 |
N/A |
INTRINSIC |
|
low complexity region
|
526 |
548 |
N/A |
INTRINSIC |
|
low complexity region
|
564 |
576 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124868
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133351
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162063
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161543
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160976
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149843
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153353
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145335
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150745
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161025
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136621
|
| SMART Domains |
Protein: ENSMUSP00000124616
Gene: ENSMUSG00000027405
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NOP5NT
|
4 |
70 |
3.6e-22 |
PFAM |
|
NOSIC
|
167 |
219 |
1.18e-30 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149955
|
| SMART Domains |
Protein: ENSMUSP00000123879
Gene: ENSMUSG00000027405
| Domain | Start | End | E-Value | Type |
|---|
|
NOSIC
|
2 |
35 |
1.24e-6 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150401
|
| SMART Domains |
Protein: ENSMUSP00000123890
Gene: ENSMUSG00000027405
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Nop
|
26 |
103 |
3.9e-26 |
PFAM |
|
coiled coil region
|
110 |
155 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159373
|
| SMART Domains |
Protein: ENSMUSP00000124080
Gene: ENSMUSG00000027405
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Nop
|
10 |
94 |
6e-28 |
PFAM |
|
coiled coil region
|
98 |
135 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146454
|
| SMART Domains |
Protein: ENSMUSP00000125304
Gene: ENSMUSG00000027405
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Nop
|
1 |
152 |
7.8e-66 |
PFAM |
|
coiled coil region
|
159 |
204 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143547
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175746
|
| 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 |
|
| Meta Mutation Damage Score |
0.0628 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.6%
|
| 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. 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A830018L16Rik |
C |
T |
1: 11,484,814 (GRCm39) |
R8* |
probably null |
Het |
| Acacb |
A |
T |
5: 114,333,346 (GRCm39) |
H490L |
probably damaging |
Het |
| Ace |
C |
A |
11: 105,875,932 (GRCm39) |
H417N |
probably damaging |
Het |
| Adamtsl3 |
A |
G |
7: 82,099,298 (GRCm39) |
N151D |
possibly damaging |
Het |
| Agap1 |
A |
G |
1: 89,591,452 (GRCm39) |
N114S |
probably damaging |
Het |
| Arap3 |
A |
T |
18: 38,117,298 (GRCm39) |
V926D |
probably damaging |
Het |
| Arhgap12 |
A |
T |
18: 6,112,340 (GRCm39) |
I8N |
probably benign |
Het |
| Arhgef17 |
A |
T |
7: 100,578,711 (GRCm39) |
F746I |
probably damaging |
Het |
| Atp6v0a1 |
T |
C |
11: 100,929,612 (GRCm39) |
S471P |
possibly damaging |
Het |
| Bdp1 |
A |
G |
13: 100,197,448 (GRCm39) |
V979A |
probably benign |
Het |
| Ccdc88c |
C |
A |
12: 100,879,733 (GRCm39) |
R1789L |
probably damaging |
Het |
| Cckar |
A |
T |
5: 53,857,215 (GRCm39) |
N327K |
probably benign |
Het |
| Cfap65 |
T |
C |
1: 74,956,334 (GRCm39) |
T1082A |
probably damaging |
Het |
| Clcn7 |
T |
A |
17: 25,378,672 (GRCm39) |
I719N |
probably damaging |
Het |
| Col27a1 |
C |
G |
4: 63,246,868 (GRCm39) |
|
probably benign |
Het |
| Cspp1 |
C |
T |
1: 10,196,663 (GRCm39) |
T179I |
probably damaging |
Het |
| Dnah1 |
C |
T |
14: 31,024,249 (GRCm39) |
|
probably benign |
Het |
| Dnah6 |
A |
G |
6: 73,132,279 (GRCm39) |
V1141A |
probably benign |
Het |
| Dusp4 |
A |
G |
8: 35,285,633 (GRCm39) |
Y298C |
probably damaging |
Het |
| Efhc1 |
C |
A |
1: 21,037,625 (GRCm39) |
Y267* |
probably null |
Het |
| Eif2s1 |
T |
A |
12: 78,913,295 (GRCm39) |
|
probably null |
Het |
| Epo |
A |
G |
5: 137,481,417 (GRCm39) |
V169A |
possibly damaging |
Het |
| Esr1 |
A |
T |
10: 4,951,380 (GRCm39) |
Y586F |
probably benign |
Het |
| Fat2 |
T |
C |
11: 55,178,609 (GRCm39) |
T1484A |
possibly damaging |
Het |
| Fat2 |
T |
C |
11: 55,187,007 (GRCm39) |
T1280A |
possibly damaging |
Het |
| Gm5828 |
T |
C |
1: 16,839,485 (GRCm39) |
|
noncoding transcript |
Het |
| Kif13a |
A |
C |
13: 46,947,398 (GRCm39) |
V862G |
probably benign |
Het |
| Kndc1 |
A |
G |
7: 139,510,669 (GRCm39) |
D1327G |
probably damaging |
Het |
| Mfsd9 |
T |
A |
1: 40,812,958 (GRCm39) |
R452S |
probably benign |
Het |
| Myh15 |
C |
T |
16: 48,952,566 (GRCm39) |
R879C |
probably benign |
Het |
| Naip2 |
T |
C |
13: 100,319,437 (GRCm39) |
R260G |
possibly damaging |
Het |
| Npat |
T |
G |
9: 53,481,472 (GRCm39) |
L1060R |
probably damaging |
Het |
| Or2aj4 |
T |
A |
16: 19,385,156 (GRCm39) |
H159L |
probably benign |
Het |
| Or4c126 |
A |
T |
2: 89,824,297 (GRCm39) |
T187S |
possibly damaging |
Het |
| Or4c15 |
A |
T |
2: 88,759,731 (GRCm39) |
D309E |
probably benign |
Het |
| Or52n2b |
A |
C |
7: 104,566,015 (GRCm39) |
F163V |
probably benign |
Het |
| Or6f2 |
T |
C |
7: 139,756,561 (GRCm39) |
V176A |
probably benign |
Het |
| Pld5 |
T |
C |
1: 175,803,192 (GRCm39) |
T296A |
possibly damaging |
Het |
| Polq |
C |
T |
16: 36,880,626 (GRCm39) |
A651V |
probably damaging |
Het |
| Polr3a |
G |
A |
14: 24,520,692 (GRCm39) |
P607S |
probably damaging |
Het |
| Ranbp9 |
G |
A |
13: 43,566,015 (GRCm39) |
R424C |
probably damaging |
Het |
| Rsl1 |
G |
A |
13: 67,325,229 (GRCm39) |
|
probably benign |
Het |
| Sema4c |
A |
G |
1: 36,589,885 (GRCm39) |
S490P |
probably damaging |
Het |
| Setd3 |
A |
T |
12: 108,079,603 (GRCm39) |
L300Q |
possibly damaging |
Het |
| Slc15a3 |
T |
C |
19: 10,834,595 (GRCm39) |
I492T |
possibly damaging |
Het |
| Stag1 |
T |
C |
9: 100,762,953 (GRCm39) |
|
probably benign |
Het |
| Tgm4 |
A |
G |
9: 122,880,481 (GRCm39) |
Y294C |
probably damaging |
Het |
| Tm9sf1 |
A |
G |
14: 55,878,757 (GRCm39) |
S212P |
probably benign |
Het |
| Tmcc1 |
A |
G |
6: 116,110,826 (GRCm39) |
S156P |
probably damaging |
Het |
| Vmn1r184 |
A |
C |
7: 25,966,670 (GRCm39) |
M139L |
probably benign |
Het |
| Vmn1r209 |
A |
C |
13: 22,990,652 (GRCm39) |
F13V |
possibly damaging |
Het |
| Xkr5 |
T |
C |
8: 18,984,141 (GRCm39) |
E467G |
probably benign |
Het |
| Zdbf2 |
C |
T |
1: 63,348,131 (GRCm39) |
S2170L |
possibly damaging |
Het |
| Zfp277 |
G |
T |
12: 40,379,609 (GRCm39) |
|
probably null |
Het |
| Zfp62 |
T |
C |
11: 49,106,596 (GRCm39) |
I229T |
probably damaging |
Het |
| Zfp810 |
A |
G |
9: 22,190,324 (GRCm39) |
S195P |
possibly damaging |
Het |
| Zfp94 |
G |
A |
7: 24,010,927 (GRCm39) |
|
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GAACAAGCCATCCCCTAGTTTCCTG -3'
(R):5'- CTTCCTGGATACAAGACTCGGCAC -3'
Sequencing Primer
(F):5'- TTCCTGTTCACAGGCCAGAG -3'
(R):5'- CTAGACCTGGTTATCATTCGAGAGC -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation