Incidental Mutation 'R8202:Bckdha'
| ID |
635711 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bckdha
|
| Ensembl Gene |
ENSMUSG00000060376 |
| Gene Name |
branched chain ketoacid dehydrogenase E1, alpha polypeptide |
| Synonyms |
BCKAD E1[a] |
| MMRRC Submission |
067625-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.229)
|
| Stock # |
R8202 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
25329371-25358178 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 25329738 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Tyrosine
at position 431
(H431Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000071292
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071329]
[ENSMUST00000076034]
[ENSMUST00000077338]
[ENSMUST00000085953]
[ENSMUST00000205281]
[ENSMUST00000205808]
[ENSMUST00000206940]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000071329
AA Change: H431Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000071292
Gene: ENSMUSG00000060376
AA Change: H431Y
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
36 |
N/A |
INTRINSIC |
|
Pfam:E1_dh
|
107 |
407 |
2.9e-117 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000076034
|
| SMART Domains |
Protein: ENSMUSP00000092277
Gene: ENSMUSG00000059479
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
19 |
N/A |
INTRINSIC |
|
Pfam:Galactosyl_T
|
154 |
344 |
2.9e-32 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000077338
|
| SMART Domains |
Protein: ENSMUSP00000076563
Gene: ENSMUSG00000057229
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3E4G|A
|
82 |
213 |
2e-10 |
PDB |
|
SCOP:d1fqva2
|
109 |
209 |
2e-6 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000085953
|
| SMART Domains |
Protein: ENSMUSP00000083115
Gene: ENSMUSG00000057229
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3E4G|A
|
81 |
212 |
3e-10 |
PDB |
|
SCOP:d1fqva2
|
108 |
208 |
3e-6 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205281
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205808
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206940
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.6%
|
| Validation Efficiency |
100% (50/50) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The branched-chain alpha-keto acid (BCAA) dehydrogenase (BCKD) complex is an innter mitochondrial enzyme complex that catalyzes the second major step in the catabolism of the branched-chain amino acids leucine, isoleucine, and valine. The BCKD complex consists of three catalytic components: a heterotetrameric (alpha2-beta2) branched-chain alpha-keto acid decarboxylase (E1), a dihydrolipoyl transacylase (E2), and a dihydrolipoamide dehydrogenase (E3). This gene encodes the alpha subunit of the decarboxylase (E1) component. Mutations in this gene result in maple syrup urine disease, type IA. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930474N05Rik |
C |
T |
14: 35,817,057 (GRCm39) |
R36C |
probably benign |
Het |
| B020011L13Rik |
A |
T |
1: 117,728,874 (GRCm39) |
H127L |
probably damaging |
Het |
| B4galt4 |
A |
G |
16: 38,588,274 (GRCm39) |
Q306R |
probably benign |
Het |
| Cacna1e |
T |
A |
1: 154,274,195 (GRCm39) |
M2256L |
probably benign |
Het |
| Ccar1 |
A |
T |
10: 62,607,768 (GRCm39) |
F298L |
possibly damaging |
Het |
| Ceacam3 |
G |
A |
7: 16,896,953 (GRCm39) |
A640T |
|
Het |
| Cers3 |
A |
G |
7: 66,435,761 (GRCm39) |
D240G |
probably damaging |
Het |
| Ces1d |
T |
C |
8: 93,919,495 (GRCm39) |
E99G |
probably benign |
Het |
| Dnah2 |
A |
G |
11: 69,369,649 (GRCm39) |
V1609A |
probably benign |
Het |
| Fer1l6 |
T |
C |
15: 58,502,486 (GRCm39) |
F1329S |
probably damaging |
Het |
| Fry |
A |
G |
5: 150,355,202 (GRCm39) |
Q1825R |
probably damaging |
Het |
| Guf1 |
C |
A |
5: 69,720,545 (GRCm39) |
A335E |
possibly damaging |
Het |
| Heatr6 |
C |
A |
11: 83,650,234 (GRCm39) |
T230K |
possibly damaging |
Het |
| Klhl11 |
G |
A |
11: 100,354,150 (GRCm39) |
S557L |
probably benign |
Het |
| Map10 |
A |
G |
8: 126,397,647 (GRCm39) |
N347D |
possibly damaging |
Het |
| Myh7 |
T |
C |
14: 55,227,497 (GRCm39) |
I313V |
probably benign |
Het |
| Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
| Nmral1 |
G |
A |
16: 4,532,448 (GRCm39) |
T131M |
probably damaging |
Het |
| Npr1 |
T |
A |
3: 90,368,731 (GRCm39) |
Y443F |
probably benign |
Het |
| Ntn4 |
A |
G |
10: 93,480,765 (GRCm39) |
N163S |
possibly damaging |
Het |
| Nufip1 |
A |
G |
14: 76,348,604 (GRCm39) |
I78V |
probably benign |
Het |
| Oplah |
C |
T |
15: 76,186,669 (GRCm39) |
G670D |
probably benign |
Het |
| Or51a24 |
A |
G |
7: 103,734,198 (GRCm39) |
S30P |
probably benign |
Het |
| Or5j3 |
A |
T |
2: 86,128,968 (GRCm39) |
E269D |
probably benign |
Het |
| Or6c69b |
T |
C |
10: 129,626,518 (GRCm39) |
*313W |
probably null |
Het |
| Pcnx1 |
T |
G |
12: 81,941,821 (GRCm39) |
I73S |
probably benign |
Het |
| Pigp |
A |
T |
16: 94,165,528 (GRCm39) |
N204K |
probably benign |
Het |
| Prelid2 |
T |
A |
18: 42,065,802 (GRCm39) |
I78F |
possibly damaging |
Het |
| Ptprb |
A |
G |
10: 116,189,750 (GRCm39) |
Y1516C |
probably damaging |
Het |
| Rab31 |
T |
C |
17: 65,974,881 (GRCm39) |
E157G |
probably damaging |
Het |
| Rars2 |
T |
C |
4: 34,656,180 (GRCm39) |
Y445H |
probably damaging |
Het |
| Rnf220 |
T |
A |
4: 117,347,070 (GRCm39) |
H114L |
probably damaging |
Het |
| Ryr1 |
A |
G |
7: 28,790,457 (GRCm39) |
W1450R |
probably benign |
Het |
| Slamf6 |
A |
G |
1: 171,761,786 (GRCm39) |
Y69C |
probably benign |
Het |
| Smc3 |
T |
C |
19: 53,617,123 (GRCm39) |
I512T |
possibly damaging |
Het |
| Sspo |
A |
G |
6: 48,434,534 (GRCm39) |
T1009A |
probably damaging |
Het |
| St3gal3 |
T |
A |
4: 117,964,868 (GRCm39) |
|
probably benign |
Het |
| Tbc1d23 |
A |
G |
16: 57,011,917 (GRCm39) |
F338L |
probably damaging |
Het |
| Tgs1 |
G |
A |
4: 3,586,097 (GRCm39) |
A325T |
probably benign |
Het |
| Tmem30a |
A |
T |
9: 79,681,494 (GRCm39) |
I261K |
probably damaging |
Het |
| Trim3 |
A |
T |
7: 105,260,632 (GRCm39) |
H662Q |
possibly damaging |
Het |
| Unc13c |
C |
T |
9: 73,643,844 (GRCm39) |
V1207M |
probably damaging |
Het |
| Vmn1r91 |
A |
T |
7: 19,835,749 (GRCm39) |
I223F |
probably damaging |
Het |
| Vmn2r33 |
A |
T |
7: 7,557,153 (GRCm39) |
C516S |
possibly damaging |
Het |
| Vps13c |
T |
C |
9: 67,851,328 (GRCm39) |
V2321A |
probably damaging |
Het |
| Zan |
G |
T |
5: 137,387,589 (GRCm39) |
T4874K |
unknown |
Het |
| Zfp677 |
T |
C |
17: 21,613,535 (GRCm39) |
L43S |
probably damaging |
Het |
| Zfp709 |
A |
G |
8: 72,642,760 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Bckdha |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00906:Bckdha
|
APN |
7 |
25,332,767 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01322:Bckdha
|
APN |
7 |
25,358,132 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
IGL02279:Bckdha
|
APN |
7 |
25,330,534 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0071:Bckdha
|
UTSW |
7 |
25,329,868 (GRCm39) |
splice site |
probably null |
|
|
R0071:Bckdha
|
UTSW |
7 |
25,329,868 (GRCm39) |
splice site |
probably null |
|
|
R0194:Bckdha
|
UTSW |
7 |
25,330,875 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0615:Bckdha
|
UTSW |
7 |
25,341,210 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1806:Bckdha
|
UTSW |
7 |
25,330,845 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2520:Bckdha
|
UTSW |
7 |
25,341,124 (GRCm39) |
missense |
probably benign |
0.18 |
|
R3847:Bckdha
|
UTSW |
7 |
25,331,077 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3975:Bckdha
|
UTSW |
7 |
25,330,858 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4630:Bckdha
|
UTSW |
7 |
25,330,884 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5655:Bckdha
|
UTSW |
7 |
25,329,789 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6030:Bckdha
|
UTSW |
7 |
25,330,866 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6030:Bckdha
|
UTSW |
7 |
25,330,866 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7961:Bckdha
|
UTSW |
7 |
25,330,903 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8344:Bckdha
|
UTSW |
7 |
25,330,872 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8932:Bckdha
|
UTSW |
7 |
25,330,436 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9089:Bckdha
|
UTSW |
7 |
25,341,144 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9782:Bckdha
|
UTSW |
7 |
25,340,880 (GRCm39) |
critical splice donor site |
probably null |
|
|
Z1176:Bckdha
|
UTSW |
7 |
25,330,568 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGGTGCCCCAGTGAAGTAG -3'
(R):5'- ATTAACACCAGTCTGAGGCC -3'
Sequencing Primer
(F):5'- CCAGTGAAGTAGCCTGGGG -3'
(R):5'- TGAGGCCTCAGAGGGGTG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation