Incidental Mutation 'R1634:Idh3b'
ID |
172962 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Idh3b
|
Ensembl Gene |
ENSMUSG00000027406 |
Gene Name |
isocitrate dehydrogenase 3 (NAD+) beta |
Synonyms |
|
MMRRC Submission |
039671-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1634 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
130121229-130126371 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 130123665 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 141
(V141I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000028892
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028890]
[ENSMUST00000028892]
[ENSMUST00000103198]
[ENSMUST00000159373]
[ENSMUST00000136621]
[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: V141I
PolyPhen 2
Score 0.389 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000028892 Gene: ENSMUSG00000027406 AA Change: V141I
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: ENSMUST00000161543
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145335
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160976
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150745
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162063
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153353
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161025
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149843
|
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: 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: 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: 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: 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 |
0.0874 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.7%
- 20x: 90.4%
|
Validation Efficiency |
97% (67/69) |
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 |
Adam2 |
A |
T |
14: 66,295,180 (GRCm39) |
F222I |
probably damaging |
Het |
Adam34 |
A |
T |
8: 44,105,127 (GRCm39) |
C173S |
possibly damaging |
Het |
Ahi1 |
T |
C |
10: 20,841,592 (GRCm39) |
V293A |
probably damaging |
Het |
AI182371 |
A |
T |
2: 34,976,497 (GRCm39) |
Y223N |
probably damaging |
Het |
Asmt |
C |
A |
X: 169,109,564 (GRCm39) |
F181L |
probably damaging |
Het |
Axin1 |
T |
A |
17: 26,406,965 (GRCm39) |
H519Q |
probably damaging |
Het |
Cdc5l |
A |
T |
17: 45,715,632 (GRCm39) |
V660E |
probably damaging |
Het |
Cep152 |
C |
T |
2: 125,425,809 (GRCm39) |
R852H |
probably benign |
Het |
Cpne4 |
T |
C |
9: 104,866,778 (GRCm39) |
V230A |
possibly damaging |
Het |
Cttnbp2 |
A |
T |
6: 18,408,656 (GRCm39) |
N988K |
probably benign |
Het |
D430041D05Rik |
A |
G |
2: 104,051,556 (GRCm39) |
I767T |
probably damaging |
Het |
Dgki |
A |
G |
6: 36,892,425 (GRCm39) |
M851T |
probably benign |
Het |
Dnah8 |
T |
C |
17: 30,932,072 (GRCm39) |
|
probably null |
Het |
Dscaml1 |
A |
G |
9: 45,584,047 (GRCm39) |
E504G |
probably damaging |
Het |
Dzank1 |
G |
A |
2: 144,323,589 (GRCm39) |
A618V |
probably benign |
Het |
Entrep3 |
A |
C |
3: 89,095,401 (GRCm39) |
Y511S |
probably damaging |
Het |
Fat2 |
T |
A |
11: 55,158,510 (GRCm39) |
S3403C |
probably damaging |
Het |
Fat2 |
C |
T |
11: 55,175,545 (GRCm39) |
V1723I |
probably benign |
Het |
Flt1 |
A |
T |
5: 147,613,240 (GRCm39) |
F334I |
probably damaging |
Het |
Galnt12 |
G |
T |
4: 47,108,585 (GRCm39) |
|
probably null |
Het |
Gzmc |
T |
C |
14: 56,469,737 (GRCm39) |
I188V |
possibly damaging |
Het |
Herc1 |
T |
C |
9: 66,380,820 (GRCm39) |
S3566P |
possibly damaging |
Het |
Hoxb4 |
C |
A |
11: 96,211,099 (GRCm39) |
|
probably benign |
Het |
Kif24 |
A |
G |
4: 41,393,529 (GRCm39) |
S1249P |
probably benign |
Het |
Leo1 |
T |
C |
9: 75,373,542 (GRCm39) |
Y656H |
possibly damaging |
Het |
Map3k20 |
G |
A |
2: 72,240,521 (GRCm39) |
W339* |
probably null |
Het |
Map3k5 |
T |
C |
10: 20,012,657 (GRCm39) |
V1259A |
possibly damaging |
Het |
Masp2 |
A |
G |
4: 148,698,812 (GRCm39) |
D631G |
probably damaging |
Het |
Mink1 |
T |
C |
11: 70,499,706 (GRCm39) |
S713P |
probably benign |
Het |
Mpp7 |
A |
T |
18: 7,350,984 (GRCm39) |
V571E |
possibly damaging |
Het |
Nell1 |
A |
G |
7: 50,498,306 (GRCm39) |
D574G |
possibly damaging |
Het |
Obscn |
T |
C |
11: 58,967,722 (GRCm39) |
Y392C |
probably damaging |
Het |
Odad2 |
A |
G |
18: 7,286,688 (GRCm39) |
L181P |
probably damaging |
Het |
Olfml2a |
A |
T |
2: 38,850,231 (GRCm39) |
Y649F |
probably benign |
Het |
Or1f19 |
A |
G |
16: 3,411,073 (GRCm39) |
D271G |
probably benign |
Het |
Or4k45 |
T |
C |
2: 111,395,691 (GRCm39) |
M33V |
probably benign |
Het |
Prkcg |
A |
G |
7: 3,371,986 (GRCm39) |
D484G |
probably damaging |
Het |
Rab27a |
T |
C |
9: 72,982,851 (GRCm39) |
|
probably null |
Het |
Rapgef6 |
TG |
TGG |
11: 54,437,223 (GRCm39) |
|
probably null |
Het |
Rgl1 |
C |
T |
1: 152,400,523 (GRCm39) |
R624H |
probably damaging |
Het |
Ric8b |
G |
A |
10: 84,806,612 (GRCm39) |
G159D |
probably damaging |
Het |
Sbno2 |
C |
A |
10: 79,896,468 (GRCm39) |
A880S |
possibly damaging |
Het |
Scn9a |
A |
G |
2: 66,318,361 (GRCm39) |
S1477P |
probably damaging |
Het |
Sec22a |
T |
C |
16: 35,139,243 (GRCm39) |
|
probably benign |
Het |
Snx14 |
T |
C |
9: 88,267,792 (GRCm39) |
I714M |
probably benign |
Het |
Snx14 |
T |
C |
9: 88,289,543 (GRCm39) |
|
probably benign |
Het |
Sphk2 |
T |
A |
7: 45,360,964 (GRCm39) |
T347S |
probably benign |
Het |
Spns1 |
C |
T |
7: 125,970,343 (GRCm39) |
|
probably benign |
Het |
Susd2 |
A |
G |
10: 75,473,389 (GRCm39) |
V675A |
probably benign |
Het |
Sytl2 |
A |
T |
7: 90,044,390 (GRCm39) |
D566V |
probably damaging |
Het |
Tcf25 |
T |
A |
8: 124,123,830 (GRCm39) |
I464N |
possibly damaging |
Het |
Tex261 |
A |
T |
6: 83,752,004 (GRCm39) |
I49N |
possibly damaging |
Het |
Tjp1 |
A |
G |
7: 64,952,700 (GRCm39) |
F1545L |
possibly damaging |
Het |
Tmem176b |
A |
G |
6: 48,811,500 (GRCm39) |
S216P |
probably damaging |
Het |
Topaz1 |
C |
T |
9: 122,609,740 (GRCm39) |
|
probably benign |
Het |
Tra2a |
C |
T |
6: 49,227,891 (GRCm39) |
|
probably benign |
Het |
Ttn |
A |
G |
2: 76,553,126 (GRCm39) |
F22794S |
possibly damaging |
Het |
Uox |
G |
A |
3: 146,318,138 (GRCm39) |
W93* |
probably null |
Het |
Zan |
A |
T |
5: 137,411,052 (GRCm39) |
|
probably benign |
Het |
Zfp106 |
G |
A |
2: 120,364,158 (GRCm39) |
R750* |
probably null |
Het |
Zfp638 |
A |
T |
6: 83,956,894 (GRCm39) |
|
probably null |
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 |
|
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- AGTCGAACGCAAACTTTGCAATCC -3'
(R):5'- AGACACCCTTGCTTTTCAGCTTGG -3'
Sequencing Primer
(F):5'- AGTGACGATCTTCAGGCACTC -3'
(R):5'- AGCCTCCTATGATATGCAGC -3'
|
Posted On |
2014-04-24 |