Incidental Mutation 'R8165:Idh3b'
| ID |
633702 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Idh3b
|
| Ensembl Gene |
ENSMUSG00000027406 |
| Gene Name |
isocitrate dehydrogenase 3 (NAD+) beta |
| Synonyms |
|
| MMRRC Submission |
067591-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8165 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
130121229-130126371 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 130122420 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 322
(T322S)
|
| 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: T322S
PolyPhen 2
Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000028892
Gene: ENSMUSG00000027406
AA Change: T322S
| 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 |
possibly damaging
Transcript: ENSMUST00000184538
AA Change: T18S
PolyPhen 2
Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000139331
Gene: ENSMUSG00000027406
AA Change: T18S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Iso_dh
|
6 |
71 |
1.8e-15 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (65/65) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610040J01Rik |
C |
A |
5: 64,055,289 (GRCm39) |
|
probably null |
Het |
| Amph |
A |
G |
13: 19,279,007 (GRCm39) |
K161E |
probably benign |
Het |
| Aox1 |
A |
T |
1: 58,348,088 (GRCm39) |
H602L |
probably benign |
Het |
| Areg |
A |
G |
5: 91,291,492 (GRCm39) |
N145S |
probably damaging |
Het |
| Arhgap29 |
C |
T |
3: 121,782,222 (GRCm39) |
T142I |
probably damaging |
Het |
| Bcar3 |
C |
T |
3: 122,304,805 (GRCm39) |
|
probably benign |
Het |
| Brpf3 |
C |
T |
17: 29,025,248 (GRCm39) |
A107V |
probably benign |
Het |
| Btnl2 |
T |
A |
17: 34,587,682 (GRCm39) |
S509T |
possibly damaging |
Het |
| Cacna2d2 |
A |
G |
9: 107,402,653 (GRCm39) |
|
probably null |
Het |
| Casz1 |
C |
T |
4: 149,028,888 (GRCm39) |
P1111L |
probably damaging |
Het |
| Ccdc91 |
C |
T |
6: 147,533,086 (GRCm39) |
T411I |
unknown |
Het |
| Chd9 |
A |
C |
8: 91,767,769 (GRCm39) |
E2422A |
probably damaging |
Het |
| Clrn3 |
T |
C |
7: 135,130,133 (GRCm39) |
I34V |
probably benign |
Het |
| Cnksr3 |
C |
T |
10: 7,104,467 (GRCm39) |
D79N |
probably damaging |
Het |
| Cops8 |
A |
G |
1: 90,539,729 (GRCm39) |
|
probably null |
Het |
| Cpa2 |
A |
G |
6: 30,564,345 (GRCm39) |
K392R |
probably benign |
Het |
| Dnajc28 |
G |
A |
16: 91,413,795 (GRCm39) |
R150* |
probably null |
Het |
| Dnase1l3 |
T |
C |
14: 7,994,299 (GRCm38) |
|
probably benign |
Het |
| Gdpd5 |
A |
T |
7: 99,105,689 (GRCm39) |
T502S |
probably benign |
Het |
| Gp2 |
A |
T |
7: 119,049,375 (GRCm39) |
D387E |
probably damaging |
Het |
| Gpr179 |
A |
G |
11: 97,242,364 (GRCm39) |
L160P |
probably benign |
Het |
| Hmcn1 |
G |
A |
1: 150,522,409 (GRCm39) |
T3497M |
probably benign |
Het |
| Kit |
A |
T |
5: 75,781,540 (GRCm39) |
N323I |
possibly damaging |
Het |
| Kng2 |
T |
C |
16: 22,806,246 (GRCm39) |
S445G |
unknown |
Het |
| Lin54 |
A |
G |
5: 100,602,358 (GRCm39) |
V393A |
probably benign |
Het |
| Lyst |
T |
A |
13: 13,872,945 (GRCm39) |
W2715R |
probably damaging |
Het |
| Mad1l1 |
T |
C |
5: 140,300,813 (GRCm39) |
T28A |
probably benign |
Het |
| Med7 |
T |
A |
11: 46,332,073 (GRCm39) |
C223S |
probably benign |
Het |
| Megf8 |
T |
A |
7: 25,053,298 (GRCm39) |
L1823Q |
probably damaging |
Het |
| Mga |
C |
A |
2: 119,777,719 (GRCm39) |
Q1755K |
probably benign |
Het |
| Mgat4b |
A |
T |
11: 50,101,801 (GRCm39) |
N22I |
probably benign |
Het |
| Ndufb6 |
C |
T |
4: 40,270,665 (GRCm39) |
|
probably null |
Het |
| Neil3 |
A |
G |
8: 54,042,129 (GRCm39) |
L490P |
probably benign |
Het |
| Nek9 |
C |
T |
12: 85,350,417 (GRCm39) |
V886I |
probably benign |
Het |
| Nol4l |
A |
T |
2: 153,262,473 (GRCm39) |
Y366* |
probably null |
Het |
| Nt5dc2 |
A |
G |
14: 30,860,886 (GRCm39) |
T354A |
probably damaging |
Het |
| Or1j11 |
T |
A |
2: 36,311,715 (GRCm39) |
Y102N |
probably damaging |
Het |
| Pde2a |
G |
A |
7: 101,149,655 (GRCm39) |
|
probably null |
Het |
| Phf1 |
T |
C |
17: 27,156,044 (GRCm39) |
F444L |
possibly damaging |
Het |
| Plin4 |
G |
A |
17: 56,414,019 (GRCm39) |
T202I |
possibly damaging |
Het |
| Plk4 |
G |
C |
3: 40,768,009 (GRCm39) |
V851L |
probably damaging |
Het |
| Pp2d1 |
A |
G |
17: 53,822,257 (GRCm39) |
S270P |
probably damaging |
Het |
| Ripor1 |
C |
A |
8: 106,347,520 (GRCm39) |
L1028M |
unknown |
Het |
| Scn9a |
A |
G |
2: 66,370,874 (GRCm39) |
F569L |
probably damaging |
Het |
| Sel1l2 |
T |
A |
2: 140,104,626 (GRCm39) |
L306F |
probably damaging |
Het |
| Spic |
A |
T |
10: 88,513,428 (GRCm39) |
S86T |
probably damaging |
Het |
| Spmip10 |
T |
A |
18: 56,722,547 (GRCm39) |
|
probably benign |
Het |
| Stkld1 |
A |
G |
2: 26,836,668 (GRCm39) |
N278S |
probably benign |
Het |
| Taar7d |
T |
A |
10: 23,903,495 (GRCm39) |
F126I |
probably benign |
Het |
| Tbc1d31 |
A |
G |
15: 57,824,345 (GRCm39) |
E869G |
possibly damaging |
Het |
| Tbcd |
C |
T |
11: 121,384,711 (GRCm39) |
T315M |
probably benign |
Het |
| Terf2 |
T |
C |
8: 107,809,656 (GRCm39) |
K221E |
possibly damaging |
Het |
| Thsd7a |
T |
A |
6: 12,468,962 (GRCm39) |
T539S |
|
Het |
| Tll2 |
A |
G |
19: 41,077,313 (GRCm39) |
F818L |
possibly damaging |
Het |
| Tmem87a |
T |
C |
2: 120,200,959 (GRCm39) |
T427A |
possibly damaging |
Het |
| Ush2a |
C |
A |
1: 188,183,952 (GRCm39) |
Q1419K |
possibly damaging |
Het |
| Vill |
T |
A |
9: 118,895,821 (GRCm39) |
F511Y |
probably damaging |
Het |
| Virma |
T |
A |
4: 11,542,128 (GRCm39) |
D1521E |
probably benign |
Het |
| Vps13c |
A |
G |
9: 67,766,072 (GRCm39) |
D63G |
probably benign |
Het |
| Vrk2 |
A |
G |
11: 26,485,575 (GRCm39) |
F138L |
probably benign |
Het |
| Zfp710 |
T |
C |
7: 79,735,775 (GRCm39) |
I514T |
probably damaging |
Het |
| Zgrf1 |
T |
A |
3: 127,357,032 (GRCm39) |
F753I |
possibly 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 |
|
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 |
|
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'- ACCTTGCCAGCTTTGATCAC -3'
(R):5'- AATGACTATGGCTGCCTCCTC -3'
Sequencing Primer
(F):5'- TGATACTCAAGACTGGCAATAGAC -3'
(R):5'- ATGGCTGCCTCCTCTCCTG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation