Incidental Mutation 'R7019:Idh3b'
| ID |
545489 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Idh3b
|
| Ensembl Gene |
ENSMUSG00000027406 |
| Gene Name |
isocitrate dehydrogenase 3 (NAD+) beta |
| Synonyms |
|
| MMRRC Submission |
045120-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7019 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
130121229-130126371 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 130122886 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 301
(V301D)
|
| 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 |
probably damaging
Transcript: ENSMUST00000028892
AA Change: V301D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000028892
Gene: ENSMUSG00000027406
AA Change: V301D
| 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 |
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: ENSMUST00000141872
|
| SMART Domains |
Protein: ENSMUSP00000125305
Gene: ENSMUSG00000027405
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NOP5NT
|
14 |
79 |
3.8e-22 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143547
|
| 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: 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: 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 |
0.9072 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (61/61) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abat |
A |
T |
16: 8,436,395 (GRCm39) |
K414* |
probably null |
Het |
| Aco1 |
T |
A |
4: 40,186,376 (GRCm39) |
I596N |
probably damaging |
Het |
| Adgre1 |
A |
C |
17: 57,717,945 (GRCm39) |
D319A |
probably damaging |
Het |
| Birc6 |
T |
C |
17: 74,916,340 (GRCm39) |
V445A |
probably benign |
Het |
| Btd |
A |
C |
14: 31,389,062 (GRCm39) |
Q261P |
probably damaging |
Het |
| Btd |
G |
T |
14: 31,389,063 (GRCm39) |
Q261H |
possibly damaging |
Het |
| C7 |
T |
A |
15: 5,075,164 (GRCm39) |
Y176F |
probably benign |
Het |
| Ccdc102a |
T |
C |
8: 95,636,431 (GRCm39) |
S287G |
probably benign |
Het |
| Ccdc178 |
T |
A |
18: 22,283,495 (GRCm39) |
T12S |
probably benign |
Het |
| Cnga4 |
G |
T |
7: 105,055,036 (GRCm39) |
A104S |
probably benign |
Het |
| Col10a1 |
G |
T |
10: 34,270,947 (GRCm39) |
L306F |
probably damaging |
Het |
| Cpne5 |
T |
C |
17: 29,445,196 (GRCm39) |
D36G |
probably damaging |
Het |
| Csmd2 |
G |
A |
4: 128,262,856 (GRCm39) |
D681N |
|
Het |
| Cspg4b |
C |
T |
13: 113,488,284 (GRCm39) |
T102I |
probably benign |
Het |
| Cstl1 |
A |
G |
2: 148,597,223 (GRCm39) |
M75V |
probably benign |
Het |
| Cyp26a1 |
T |
C |
19: 37,687,260 (GRCm39) |
L149P |
probably damaging |
Het |
| D630045J12Rik |
T |
G |
6: 38,171,570 (GRCm39) |
E866A |
probably benign |
Het |
| Dlec1 |
C |
T |
9: 118,941,490 (GRCm39) |
P292L |
probably benign |
Het |
| Dpp3 |
T |
G |
19: 4,966,817 (GRCm39) |
E402A |
possibly damaging |
Het |
| Egf |
T |
C |
3: 129,511,713 (GRCm39) |
|
probably null |
Het |
| Epha5 |
T |
C |
5: 84,564,321 (GRCm39) |
Q15R |
possibly damaging |
Het |
| Esyt3 |
A |
G |
9: 99,197,338 (GRCm39) |
F831L |
probably benign |
Het |
| Fam50b |
G |
A |
13: 34,931,084 (GRCm39) |
E187K |
possibly damaging |
Het |
| Fut7 |
A |
G |
2: 25,315,792 (GRCm39) |
D350G |
probably benign |
Het |
| Gab1 |
C |
A |
8: 81,511,446 (GRCm39) |
E466D |
probably damaging |
Het |
| Glrp1 |
A |
T |
1: 88,430,890 (GRCm39) |
M160K |
unknown |
Het |
| Gngt1 |
T |
C |
6: 3,994,088 (GRCm39) |
|
probably null |
Het |
| Gprc6a |
A |
T |
10: 51,507,508 (GRCm39) |
V7E |
possibly damaging |
Het |
| Ifi202b |
A |
C |
1: 173,791,524 (GRCm39) |
C385G |
probably benign |
Het |
| Ilvbl |
T |
A |
10: 78,414,920 (GRCm39) |
L261Q |
probably damaging |
Het |
| Irx6 |
T |
A |
8: 93,405,362 (GRCm39) |
L410Q |
probably damaging |
Het |
| Ism2 |
T |
C |
12: 87,346,437 (GRCm39) |
M15V |
unknown |
Het |
| Itih5 |
C |
A |
2: 10,195,138 (GRCm39) |
R177S |
probably damaging |
Het |
| Klra3 |
C |
T |
6: 130,304,087 (GRCm39) |
G202R |
probably damaging |
Het |
| Krt7 |
T |
C |
15: 101,311,851 (GRCm39) |
V103A |
probably damaging |
Het |
| Lama3 |
T |
C |
18: 12,661,475 (GRCm39) |
S2145P |
probably damaging |
Het |
| Mlph |
A |
G |
1: 90,869,428 (GRCm39) |
R477G |
probably damaging |
Het |
| Mybpc1 |
T |
A |
10: 88,379,581 (GRCm39) |
L653F |
probably damaging |
Het |
| Myrfl |
A |
G |
10: 116,617,852 (GRCm39) |
|
probably null |
Het |
| Myrip |
T |
G |
9: 120,251,573 (GRCm39) |
L232R |
probably damaging |
Het |
| Nrdc |
A |
T |
4: 108,885,999 (GRCm39) |
H126L |
probably benign |
Het |
| Or4n5 |
A |
T |
14: 50,133,124 (GRCm39) |
I45N |
probably damaging |
Het |
| Or5p50 |
G |
T |
7: 107,422,365 (GRCm39) |
L104I |
probably benign |
Het |
| Or8c11 |
T |
A |
9: 38,290,098 (GRCm39) |
L307Q |
possibly damaging |
Het |
| Pcdhb10 |
T |
A |
18: 37,546,056 (GRCm39) |
N377K |
probably damaging |
Het |
| Pigt |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
2: 164,341,589 (GRCm39) |
|
probably null |
Het |
| Prkdc |
A |
C |
16: 15,587,830 (GRCm39) |
I2572L |
probably benign |
Het |
| Ptpro |
C |
A |
6: 137,357,476 (GRCm39) |
D322E |
probably benign |
Het |
| R3hcc1 |
A |
G |
14: 69,941,574 (GRCm39) |
I332T |
probably damaging |
Het |
| Rab8a |
T |
C |
8: 72,915,227 (GRCm39) |
F9L |
probably damaging |
Het |
| Ranbp3l |
A |
T |
15: 9,057,241 (GRCm39) |
K165N |
probably damaging |
Het |
| Rock2 |
T |
A |
12: 17,027,741 (GRCm39) |
C1353S |
probably damaging |
Het |
| Rsad2 |
T |
A |
12: 26,506,418 (GRCm39) |
M1L |
possibly damaging |
Het |
| Tymp |
A |
T |
15: 89,260,484 (GRCm39) |
|
probably null |
Het |
| Vmn1r104 |
A |
G |
7: 20,268,491 (GRCm39) |
M244V |
probably benign |
Het |
| Vmn1r232 |
G |
A |
17: 21,133,547 (GRCm39) |
T351M |
possibly damaging |
Het |
| Vmn2r50 |
A |
G |
7: 9,784,172 (GRCm39) |
Y101H |
probably benign |
Het |
| Vmn2r57 |
A |
G |
7: 41,078,089 (GRCm39) |
L123P |
probably damaging |
Het |
| Wdr17 |
T |
C |
8: 55,134,488 (GRCm39) |
N331D |
probably damaging |
Het |
| Wdr47 |
C |
T |
3: 108,521,671 (GRCm39) |
Q89* |
probably null |
Het |
| Zcchc4 |
A |
T |
5: 52,941,375 (GRCm39) |
T57S |
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 |
|
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 |
|
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'- GCAGAACTACCTGAGGTCAG -3'
(R):5'- TGGAAGCCAGTCCATTCATC -3'
Sequencing Primer
(F):5'- AGGTACAGATGACTAACAGAATTTTG -3'
(R):5'- GGAAGCCAGTCCATTCATCAATCTC -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation