Incidental Mutation 'R4241:Dbt'
| ID |
320206 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dbt
|
| Ensembl Gene |
ENSMUSG00000000340 |
| Gene Name |
dihydrolipoamide branched chain transacylase E2 |
| Synonyms |
dihydrolipoyllysine-residue (2-methylpropanoyl)transferase, D3Wsu60e, dihydrolipoyl transacylase, BCKAD E2 |
| MMRRC Submission |
041058-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4241 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
116306776-116343630 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 116326945 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 98
(I98T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000000349
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000349]
[ENSMUST00000197201]
[ENSMUST00000199614]
|
| AlphaFold |
P53395 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000000349
AA Change: I98T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000000349
Gene: ENSMUSG00000000340
AA Change: I98T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Biotin_lipoyl
|
65 |
138 |
2.8e-22 |
PFAM |
|
Pfam:E3_binding
|
171 |
206 |
4.4e-18 |
PFAM |
|
low complexity region
|
218 |
232 |
N/A |
INTRINSIC |
|
Pfam:2-oxoacid_dh
|
248 |
479 |
8.5e-83 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000117197
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196376
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197201
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199614
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199796
|
| Meta Mutation Damage Score |
0.8052 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 95.9%
|
| Validation Efficiency |
98% (49/50) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The branched-chain alpha-keto acid dehydrogenase complex (BCKD) is an inner-mitochondrial enzyme complex involved in the breakdown of the branched-chain amino acids isoleucine, leucine, and valine. The BCKD complex is thought to be composed of a core of 24 transacylase (E2) subunits, and associated decarboxylase (E1), dehydrogenase (E3), and regulatory subunits. This gene encodes the transacylase (E2) subunit. Mutations in this gene result in maple syrup urine disease, type 2. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in postnatal lethality, pallor, respiratory distress, and an increase in branched-chain amino acids in the blood and urine. Homozygotes model Maple Syrup Urine Disease. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agl |
A |
T |
3: 116,548,497 (GRCm39) |
|
probably benign |
Het |
| Ap5b1 |
C |
T |
19: 5,618,825 (GRCm39) |
L82F |
possibly damaging |
Het |
| Arfgef3 |
A |
G |
10: 18,500,912 (GRCm39) |
S1113P |
probably damaging |
Het |
| Atoh1 |
A |
C |
6: 64,706,758 (GRCm39) |
N151T |
probably damaging |
Het |
| Bcas3 |
T |
A |
11: 85,361,652 (GRCm39) |
S25R |
probably damaging |
Het |
| Blcap |
T |
A |
2: 157,402,343 (GRCm39) |
|
probably benign |
Het |
| Btbd6 |
C |
T |
12: 112,940,416 (GRCm39) |
A13V |
probably benign |
Het |
| Ccdc83 |
A |
C |
7: 89,896,346 (GRCm39) |
N74K |
probably damaging |
Het |
| Cdh9 |
A |
G |
15: 16,849,165 (GRCm39) |
|
probably null |
Het |
| Chd1 |
C |
T |
17: 15,990,289 (GRCm39) |
R1614* |
probably null |
Het |
| Col16a1 |
G |
T |
4: 129,992,843 (GRCm39) |
Q1567H |
probably damaging |
Het |
| Coq6 |
A |
T |
12: 84,420,563 (GRCm39) |
|
probably benign |
Het |
| Cpd |
T |
C |
11: 76,737,611 (GRCm39) |
D61G |
probably benign |
Het |
| Csnk1e |
A |
G |
15: 79,309,095 (GRCm39) |
F277S |
probably damaging |
Het |
| Cyp2d41-ps |
T |
A |
15: 82,663,787 (GRCm39) |
|
noncoding transcript |
Het |
| Eif3e |
G |
A |
15: 43,126,086 (GRCm39) |
T287I |
probably damaging |
Het |
| Fcgbpl1 |
A |
G |
7: 27,853,760 (GRCm39) |
S1575G |
probably damaging |
Het |
| Gm7135 |
A |
G |
1: 97,281,678 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr176 |
A |
T |
2: 118,110,091 (GRCm39) |
S389R |
probably benign |
Het |
| Hax1 |
A |
G |
3: 89,902,997 (GRCm39) |
S257P |
probably damaging |
Het |
| Herc1 |
CTGAGGACTCTTTG |
CTG |
9: 66,355,630 (GRCm39) |
|
probably null |
Het |
| Ighv1-53 |
C |
T |
12: 115,122,442 (GRCm39) |
C5Y |
probably benign |
Het |
| Klhl13 |
T |
A |
X: 23,181,414 (GRCm39) |
D2V |
probably damaging |
Het |
| Kynu |
A |
T |
2: 43,571,422 (GRCm39) |
H446L |
probably benign |
Het |
| Lingo1 |
A |
G |
9: 56,527,386 (GRCm39) |
F401S |
probably damaging |
Het |
| Lmbrd1 |
C |
T |
1: 24,732,049 (GRCm39) |
Q89* |
probably null |
Het |
| Mov10 |
T |
A |
3: 104,704,592 (GRCm39) |
Q773L |
probably benign |
Het |
| Or52e19 |
G |
T |
7: 102,959,868 (GRCm39) |
*313Y |
probably null |
Het |
| Or7c70 |
T |
A |
10: 78,683,739 (GRCm39) |
R3S |
probably benign |
Het |
| Pde6c |
G |
A |
19: 38,151,293 (GRCm39) |
G608S |
probably damaging |
Het |
| Peli3 |
T |
C |
19: 4,982,426 (GRCm39) |
H413R |
probably damaging |
Het |
| Pkdrej |
C |
T |
15: 85,702,345 (GRCm39) |
R1197Q |
probably damaging |
Het |
| Rcan2 |
T |
A |
17: 44,264,370 (GRCm39) |
V10D |
probably benign |
Het |
| Slc10a5 |
A |
G |
3: 10,400,520 (GRCm39) |
S47P |
probably damaging |
Het |
| Sprr3 |
A |
G |
3: 92,364,214 (GRCm39) |
V210A |
possibly damaging |
Het |
| Tcerg1l |
G |
T |
7: 137,999,361 (GRCm39) |
Q8K |
unknown |
Het |
| Ubfd1 |
T |
C |
7: 121,670,977 (GRCm39) |
V265A |
possibly damaging |
Het |
| Ubr1 |
T |
C |
2: 120,764,867 (GRCm39) |
D529G |
possibly damaging |
Het |
| Vmn1r180 |
A |
T |
7: 23,652,298 (GRCm39) |
I154F |
probably damaging |
Het |
| Vmn1r237 |
A |
G |
17: 21,534,925 (GRCm39) |
H216R |
possibly damaging |
Het |
| Whrn |
C |
T |
4: 63,351,210 (GRCm39) |
|
probably benign |
Het |
| Zfr |
T |
G |
15: 12,149,745 (GRCm39) |
D388E |
probably damaging |
Het |
| Zic5 |
T |
C |
14: 122,702,075 (GRCm39) |
I219V |
probably benign |
Het |
| Zmat5 |
A |
G |
11: 4,678,614 (GRCm39) |
N53D |
probably benign |
Het |
|
| Other mutations in Dbt |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00546:Dbt
|
APN |
3 |
116,332,930 (GRCm39) |
missense |
probably benign |
|
|
IGL00660:Dbt
|
APN |
3 |
116,339,944 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00839:Dbt
|
APN |
3 |
116,339,763 (GRCm39) |
missense |
probably benign |
0.21 |
|
IGL00840:Dbt
|
APN |
3 |
116,339,763 (GRCm39) |
missense |
probably benign |
0.21 |
|
IGL00841:Dbt
|
APN |
3 |
116,339,763 (GRCm39) |
missense |
probably benign |
0.21 |
|
IGL00852:Dbt
|
APN |
3 |
116,339,763 (GRCm39) |
missense |
probably benign |
0.21 |
|
IGL00861:Dbt
|
APN |
3 |
116,339,763 (GRCm39) |
missense |
probably benign |
0.21 |
|
IGL00955:Dbt
|
APN |
3 |
116,339,763 (GRCm39) |
missense |
probably benign |
0.21 |
|
IGL00956:Dbt
|
APN |
3 |
116,339,763 (GRCm39) |
missense |
probably benign |
0.21 |
|
IGL01475:Dbt
|
APN |
3 |
116,313,908 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL01521:Dbt
|
APN |
3 |
116,327,032 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01806:Dbt
|
APN |
3 |
116,326,954 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03288:Dbt
|
APN |
3 |
116,341,847 (GRCm39) |
makesense |
probably null |
|
|
R0025:Dbt
|
UTSW |
3 |
116,328,432 (GRCm39) |
missense |
probably benign |
0.22 |
|
R0066:Dbt
|
UTSW |
3 |
116,337,478 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0066:Dbt
|
UTSW |
3 |
116,337,478 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0190:Dbt
|
UTSW |
3 |
116,332,736 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1650:Dbt
|
UTSW |
3 |
116,328,381 (GRCm39) |
splice site |
probably null |
|
|
R1750:Dbt
|
UTSW |
3 |
116,339,943 (GRCm39) |
missense |
probably benign |
0.18 |
|
R2130:Dbt
|
UTSW |
3 |
116,332,773 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2131:Dbt
|
UTSW |
3 |
116,332,773 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2133:Dbt
|
UTSW |
3 |
116,332,773 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2897:Dbt
|
UTSW |
3 |
116,317,061 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3442:Dbt
|
UTSW |
3 |
116,341,840 (GRCm39) |
missense |
probably benign |
|
|
R4681:Dbt
|
UTSW |
3 |
116,326,963 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4724:Dbt
|
UTSW |
3 |
116,326,945 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4736:Dbt
|
UTSW |
3 |
116,332,781 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4737:Dbt
|
UTSW |
3 |
116,332,781 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4738:Dbt
|
UTSW |
3 |
116,332,781 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4740:Dbt
|
UTSW |
3 |
116,332,781 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4809:Dbt
|
UTSW |
3 |
116,339,992 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4823:Dbt
|
UTSW |
3 |
116,317,036 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4861:Dbt
|
UTSW |
3 |
116,341,727 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4861:Dbt
|
UTSW |
3 |
116,341,727 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5148:Dbt
|
UTSW |
3 |
116,321,893 (GRCm39) |
intron |
probably benign |
|
|
R5327:Dbt
|
UTSW |
3 |
116,322,220 (GRCm39) |
intron |
probably benign |
|
|
R5700:Dbt
|
UTSW |
3 |
116,313,952 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5931:Dbt
|
UTSW |
3 |
116,317,074 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R6463:Dbt
|
UTSW |
3 |
116,333,409 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R7841:Dbt
|
UTSW |
3 |
116,339,746 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R8122:Dbt
|
UTSW |
3 |
116,313,891 (GRCm39) |
nonsense |
probably null |
|
|
R8385:Dbt
|
UTSW |
3 |
116,317,039 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8941:Dbt
|
UTSW |
3 |
116,339,698 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9734:Dbt
|
UTSW |
3 |
116,339,704 (GRCm39) |
missense |
probably benign |
|
|
RF008:Dbt
|
UTSW |
3 |
116,341,717 (GRCm39) |
nonsense |
probably null |
|
|
RF016:Dbt
|
UTSW |
3 |
116,333,363 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Dbt
|
UTSW |
3 |
116,339,740 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCATTTGGGCGTCAATACTG -3'
(R):5'- CCTCAACCCAGATTTCATAACTTAG -3'
Sequencing Primer
(F):5'- GTCAATACTGCACTAGATGGCTCG -3'
(R):5'- CAGATTTCTGAGTTCCAGGACAGC -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation