Incidental Mutation 'R5700:Dbt'
| ID |
450831 |
| 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 |
043328-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5700 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
116306776-116343630 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 116313952 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 40
(V40M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143713
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000349]
[ENSMUST00000197201]
[ENSMUST00000199614]
|
| AlphaFold |
P53395 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000000349
AA Change: V40M
PolyPhen 2
Score 0.418 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000000349
Gene: ENSMUSG00000000340
AA Change: V40M
| 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: ENSMUST00000196376
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197201
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000199614
AA Change: V40M
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
98% (50/51) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc2 |
A |
T |
19: 43,786,633 (GRCm39) |
Q155L |
probably benign |
Het |
| Acadvl |
A |
C |
11: 69,904,029 (GRCm39) |
Y242D |
probably damaging |
Het |
| Armc8 |
A |
G |
9: 99,378,202 (GRCm39) |
|
probably null |
Het |
| Barx2 |
A |
T |
9: 31,770,061 (GRCm39) |
F156I |
probably damaging |
Het |
| Best1 |
T |
C |
19: 9,974,563 (GRCm39) |
|
probably benign |
Het |
| Btbd8 |
T |
C |
5: 107,651,514 (GRCm39) |
S136P |
possibly damaging |
Het |
| Btla |
T |
A |
16: 45,070,936 (GRCm39) |
Y298* |
probably null |
Het |
| Casr |
T |
A |
16: 36,329,979 (GRCm39) |
I452F |
probably damaging |
Het |
| Ccser1 |
C |
A |
6: 61,288,260 (GRCm39) |
P141H |
probably benign |
Het |
| Cr2 |
A |
G |
1: 194,842,065 (GRCm39) |
V296A |
probably damaging |
Het |
| Csl |
T |
A |
10: 99,594,877 (GRCm39) |
I63F |
probably damaging |
Het |
| Fam53b |
A |
T |
7: 132,361,749 (GRCm39) |
L93Q |
probably damaging |
Het |
| Fdps |
T |
C |
3: 89,002,956 (GRCm39) |
I105V |
probably damaging |
Het |
| Gm4884 |
A |
G |
7: 40,692,643 (GRCm39) |
D204G |
probably benign |
Het |
| Gm5592 |
A |
G |
7: 40,808,003 (GRCm39) |
|
probably benign |
Het |
| Gm7367 |
A |
T |
7: 59,805,510 (GRCm39) |
|
noncoding transcript |
Het |
| Grid2 |
T |
A |
6: 64,071,416 (GRCm39) |
V413D |
possibly damaging |
Het |
| Hgf |
C |
T |
5: 16,815,122 (GRCm39) |
P471L |
probably damaging |
Het |
| Hoxc9 |
T |
C |
15: 102,890,313 (GRCm39) |
Y77H |
possibly damaging |
Het |
| Hs6st3 |
C |
T |
14: 119,376,199 (GRCm39) |
R125* |
probably null |
Het |
| Kdm4b |
T |
C |
17: 56,658,700 (GRCm39) |
I15T |
possibly damaging |
Het |
| Klhl1 |
T |
C |
14: 96,755,476 (GRCm39) |
N93S |
probably benign |
Het |
| Klhl6 |
G |
A |
16: 19,775,968 (GRCm39) |
Q197* |
probably null |
Het |
| Medag |
T |
C |
5: 149,345,682 (GRCm39) |
V7A |
probably benign |
Het |
| Mptx2 |
G |
A |
1: 173,102,414 (GRCm39) |
L92F |
probably benign |
Het |
| Nckap5 |
C |
T |
1: 125,904,662 (GRCm39) |
|
probably null |
Het |
| Obscn |
T |
C |
11: 59,024,020 (GRCm39) |
K550R |
probably benign |
Het |
| Or2d36 |
A |
G |
7: 106,746,748 (GRCm39) |
N75S |
probably benign |
Het |
| Or2w1b |
T |
A |
13: 21,300,171 (GRCm39) |
V103E |
probably damaging |
Het |
| Or5h25 |
T |
A |
16: 58,930,356 (GRCm39) |
I206F |
probably damaging |
Het |
| Or7a42 |
T |
C |
10: 78,791,318 (GRCm39) |
I93T |
probably damaging |
Het |
| Parp6 |
T |
C |
9: 59,532,010 (GRCm39) |
S101P |
probably damaging |
Het |
| Plcd3 |
T |
C |
11: 102,964,589 (GRCm39) |
N594S |
probably benign |
Het |
| Plscr5 |
A |
T |
9: 92,087,564 (GRCm39) |
K178* |
probably null |
Het |
| Ppp2r1b |
T |
C |
9: 50,789,457 (GRCm39) |
Y443H |
probably damaging |
Het |
| Prnd |
G |
A |
2: 131,795,263 (GRCm39) |
V128I |
probably benign |
Het |
| Rftn1 |
G |
T |
17: 50,309,697 (GRCm39) |
P156Q |
probably damaging |
Het |
| Scmh1 |
T |
C |
4: 120,374,143 (GRCm39) |
V445A |
probably benign |
Het |
| Serpinb6c |
A |
T |
13: 34,083,291 (GRCm39) |
M41K |
probably damaging |
Het |
| Slc66a1 |
C |
T |
4: 139,027,565 (GRCm39) |
S259N |
probably damaging |
Het |
| Spns1 |
A |
G |
7: 125,971,641 (GRCm39) |
V303A |
possibly damaging |
Het |
| Ston1 |
T |
A |
17: 88,951,767 (GRCm39) |
S639R |
probably damaging |
Het |
| Thbs4 |
T |
C |
13: 92,913,461 (GRCm39) |
D153G |
probably benign |
Het |
| Timm44 |
T |
C |
8: 4,324,171 (GRCm39) |
Y36C |
probably damaging |
Het |
| Trim34b |
G |
T |
7: 103,985,618 (GRCm39) |
V418F |
probably damaging |
Het |
| Vmn1r72 |
C |
T |
7: 11,404,350 (GRCm39) |
V33M |
probably damaging |
Het |
| Zcchc7 |
T |
C |
4: 44,931,084 (GRCm39) |
V412A |
probably benign |
Het |
| Zfand1 |
T |
A |
3: 10,406,079 (GRCm39) |
N210I |
probably damaging |
Het |
| Zfhx3 |
A |
G |
8: 109,660,499 (GRCm39) |
H1251R |
probably damaging |
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 |
|
|
R4241:Dbt
|
UTSW |
3 |
116,326,945 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
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 |
|
| Posted On |
2017-01-03 |
Incidental Mutation