Incidental Mutation 'R5847:Idh3b'
ID |
453655 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Idh3b
|
Ensembl Gene |
ENSMUSG00000027406 |
Gene Name |
isocitrate dehydrogenase 3 (NAD+) beta |
Synonyms |
|
MMRRC Submission |
044065-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5847 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
130121229-130126371 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 130125948 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 41
(D41E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000028892
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028890]
[ENSMUST00000028892]
[ENSMUST00000103198]
[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 |
probably benign
Transcript: ENSMUST00000028892
AA Change: D41E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000028892 Gene: ENSMUSG00000027406 AA Change: D41E
Domain | Start | End | E-Value | Type |
low complexity region
|
28 |
40 |
N/A |
INTRINSIC |
Iso_dh
|
49 |
375 |
1.43e-140 |
SMART |
|
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: ENSMUST00000145335
|
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 |
noncoding transcript
Transcript: ENSMUST00000149843
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150745
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153353
|
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: 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 |
0.0898 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.4%
|
Validation Efficiency |
100% (62/62) |
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrg6 |
T |
A |
10: 14,302,521 (GRCm39) |
Y964F |
probably damaging |
Het |
Akap3 |
T |
A |
6: 126,842,521 (GRCm39) |
L380Q |
probably damaging |
Het |
Alpk1 |
A |
G |
3: 127,473,723 (GRCm39) |
I760T |
probably benign |
Het |
Aoc1l2 |
T |
A |
6: 48,910,412 (GRCm39) |
F701L |
probably damaging |
Het |
Arhgap20 |
G |
A |
9: 51,736,276 (GRCm39) |
|
probably benign |
Het |
Cacng3 |
T |
C |
7: 122,361,532 (GRCm39) |
F113S |
possibly damaging |
Het |
Ccdc158 |
G |
T |
5: 92,775,339 (GRCm39) |
N955K |
probably benign |
Het |
Ccdc63 |
T |
A |
5: 122,254,908 (GRCm39) |
M368L |
possibly damaging |
Het |
Cnot2 |
T |
C |
10: 116,363,851 (GRCm39) |
T18A |
probably damaging |
Het |
Ctnna2 |
A |
T |
6: 76,950,820 (GRCm39) |
D550E |
possibly damaging |
Het |
Cyp2c37 |
C |
T |
19: 40,000,176 (GRCm39) |
R433W |
probably damaging |
Het |
Dact2 |
A |
G |
17: 14,419,450 (GRCm39) |
S103P |
probably damaging |
Het |
Dek |
A |
G |
13: 47,255,077 (GRCm39) |
|
probably benign |
Het |
Dnah9 |
CAGTTGCTTAAA |
CA |
11: 65,986,066 (GRCm39) |
|
probably null |
Het |
Dock4 |
A |
G |
12: 40,671,250 (GRCm39) |
Y23C |
probably damaging |
Het |
Edar |
T |
A |
10: 58,439,001 (GRCm39) |
S344C |
probably damaging |
Het |
Epg5 |
T |
C |
18: 78,073,270 (GRCm39) |
V2431A |
probably benign |
Het |
Evc2 |
C |
T |
5: 37,562,068 (GRCm39) |
|
probably benign |
Het |
Igkv8-24 |
A |
T |
6: 70,193,956 (GRCm39) |
V84D |
probably damaging |
Het |
Iqca1l |
A |
T |
5: 24,749,164 (GRCm39) |
L778Q |
probably benign |
Het |
Mgam |
T |
C |
6: 40,660,989 (GRCm39) |
I1118T |
probably benign |
Het |
Mtmr3 |
A |
G |
11: 4,432,925 (GRCm39) |
V1116A |
probably damaging |
Het |
Myoc |
A |
G |
1: 162,466,936 (GRCm39) |
Y35C |
probably damaging |
Het |
Ncr1 |
A |
T |
7: 4,347,573 (GRCm39) |
D246V |
probably benign |
Het |
Nphp3 |
A |
G |
9: 103,880,236 (GRCm39) |
E86G |
probably damaging |
Het |
Or2l13b |
A |
T |
16: 19,349,076 (GRCm39) |
V198E |
probably damaging |
Het |
Or52e5 |
A |
T |
7: 104,719,064 (GRCm39) |
Y130F |
probably benign |
Het |
Or8h7 |
A |
C |
2: 86,720,676 (GRCm39) |
V281G |
probably damaging |
Het |
Pbld1 |
A |
T |
10: 62,912,193 (GRCm39) |
I275L |
probably benign |
Het |
Pde12 |
A |
G |
14: 26,386,786 (GRCm39) |
V574A |
possibly damaging |
Het |
Pdxk |
G |
T |
10: 78,280,872 (GRCm39) |
D189E |
probably benign |
Het |
Pkhd1 |
C |
A |
1: 20,444,960 (GRCm39) |
E2276* |
probably null |
Het |
Ppp1r10 |
A |
G |
17: 36,237,739 (GRCm39) |
N237S |
possibly damaging |
Het |
Rheb |
T |
A |
5: 25,012,067 (GRCm39) |
Y131F |
probably benign |
Het |
Rpgrip1l |
T |
C |
8: 92,031,613 (GRCm39) |
D88G |
probably damaging |
Het |
Scgb2b33 |
T |
C |
7: 32,812,239 (GRCm39) |
|
noncoding transcript |
Het |
Snx9 |
C |
A |
17: 5,974,896 (GRCm39) |
N461K |
possibly damaging |
Het |
Tbc1d2b |
C |
A |
9: 90,091,777 (GRCm39) |
V842F |
probably damaging |
Het |
Tgfbi |
G |
A |
13: 56,784,418 (GRCm39) |
E615K |
possibly damaging |
Het |
Tmem51 |
A |
G |
4: 141,759,346 (GRCm39) |
M134T |
probably damaging |
Het |
Tox4 |
A |
G |
14: 52,524,241 (GRCm39) |
D125G |
probably damaging |
Het |
Trappc3 |
A |
T |
4: 126,167,771 (GRCm39) |
N110I |
probably damaging |
Het |
Trim11 |
T |
A |
11: 58,881,419 (GRCm39) |
D437E |
probably damaging |
Het |
Ttc23l |
T |
C |
15: 10,537,682 (GRCm39) |
N196S |
probably benign |
Het |
Wnk1 |
C |
A |
6: 119,969,369 (GRCm39) |
G362V |
probably damaging |
Het |
Wwc1 |
A |
G |
11: 35,758,153 (GRCm39) |
F731S |
probably damaging |
Het |
Wwp1 |
A |
T |
4: 19,662,174 (GRCm39) |
D140E |
possibly damaging |
Het |
Zfp24 |
G |
A |
18: 24,151,095 (GRCm39) |
P17L |
possibly damaging |
Het |
Zfp354b |
T |
C |
11: 50,814,043 (GRCm39) |
E294G |
probably damaging |
Het |
Zfp853 |
C |
T |
5: 143,274,424 (GRCm39) |
V399M |
unknown |
Het |
Zfp868 |
T |
C |
8: 70,064,303 (GRCm39) |
H344R |
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 |
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 |
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 |
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'- TTAAATTCCACAGGGACAGCAG -3'
(R):5'- TCTCGGAACATCTACGGCTC -3'
Sequencing Primer
(F):5'- CAGCAGCCTTCAGGGATAAGTC -3'
(R):5'- TCACGCCGCTTCCCAGAG -3'
|
Posted On |
2017-02-10 |