Incidental Mutation 'IGL02176:Bckdk'
| ID |
283096 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Bckdk
|
| Ensembl Gene |
ENSMUSG00000030802 |
| Gene Name |
branched chain ketoacid dehydrogenase kinase |
| Synonyms |
BCKD-kinase |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.131)
|
| Stock # |
IGL02176
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
127503245-127508836 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 127505545 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 223
(T223A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145617
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071056]
[ENSMUST00000124533]
[ENSMUST00000151451]
[ENSMUST00000206140]
[ENSMUST00000206745]
|
| AlphaFold |
O55028 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000071056
AA Change: T223A
PolyPhen 2
Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000070345
Gene: ENSMUSG00000030802
AA Change: T223A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
35 |
N/A |
INTRINSIC |
|
Pfam:BCDHK_Adom3
|
69 |
222 |
1.8e-44 |
PFAM |
|
HATPase_c
|
264 |
404 |
2.06e-15 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124533
AA Change: T223A
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146574
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151451
|
| SMART Domains |
Protein: ENSMUSP00000116990
Gene: ENSMUSG00000030802
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
35 |
N/A |
INTRINSIC |
|
Pfam:BCDHK_Adom3
|
68 |
214 |
1.4e-43 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206068
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206140
AA Change: T214A
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206745
AA Change: T223A
PolyPhen 2
Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The branched-chain alpha-ketoacid dehydrogenase complex (BCKD) is an important regulator of the valine, leucine, and isoleucine catabolic pathways. The protein encoded by this gene is found in the mitochondrion, where it phosphorylates and inactivates BCKD. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]
PHENOTYPE: Nullizygous mutations lead to altered amino acid metabolism, gait anomalies and neurobehavioral phenotypes. Homozygotes for a gene trapped allele show impaired growth, reduced fertility and epileptic seizures. Homozygotes for another gene trapped allele show motor delay and autism-like behaviors. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahi1 |
G |
T |
10: 20,846,815 (GRCm39) |
R415L |
probably benign |
Het |
| Ankle1 |
C |
A |
8: 71,858,903 (GRCm39) |
H45Q |
probably damaging |
Het |
| Anks1b |
A |
T |
10: 89,878,530 (GRCm39) |
H113L |
probably damaging |
Het |
| Arhgap33 |
T |
A |
7: 30,223,476 (GRCm39) |
H851L |
possibly damaging |
Het |
| Atp12a |
C |
T |
14: 56,624,636 (GRCm39) |
S972L |
probably damaging |
Het |
| Atrip |
T |
C |
9: 108,896,114 (GRCm39) |
D301G |
probably benign |
Het |
| C3 |
C |
A |
17: 57,533,337 (GRCm39) |
|
probably benign |
Het |
| C8g |
A |
G |
2: 25,389,122 (GRCm39) |
S154P |
probably damaging |
Het |
| Casz1 |
A |
G |
4: 149,019,076 (GRCm39) |
D459G |
probably damaging |
Het |
| Cdca7 |
A |
G |
2: 72,314,988 (GRCm39) |
T293A |
probably damaging |
Het |
| Cmya5 |
T |
A |
13: 93,226,658 (GRCm39) |
D2810V |
probably damaging |
Het |
| CN725425 |
G |
A |
15: 91,130,024 (GRCm39) |
V296I |
probably benign |
Het |
| Col17a1 |
A |
G |
19: 47,639,658 (GRCm39) |
M1077T |
probably benign |
Het |
| Ddhd1 |
A |
T |
14: 45,854,057 (GRCm39) |
H426Q |
probably damaging |
Het |
| Dpp6 |
C |
T |
5: 27,928,575 (GRCm39) |
T799M |
probably damaging |
Het |
| Efs |
C |
T |
14: 55,158,499 (GRCm39) |
G53D |
probably damaging |
Het |
| Fer1l4 |
A |
G |
2: 155,890,371 (GRCm39) |
V221A |
probably benign |
Het |
| Gabre |
G |
A |
X: 71,318,259 (GRCm39) |
Q17* |
probably null |
Het |
| Gpld1 |
T |
C |
13: 25,168,192 (GRCm39) |
|
probably null |
Het |
| Gpr107 |
T |
A |
2: 31,058,858 (GRCm39) |
V116D |
probably benign |
Het |
| Huwe1 |
T |
C |
X: 150,686,964 (GRCm39) |
S2283P |
possibly damaging |
Het |
| Ksr1 |
A |
G |
11: 78,911,617 (GRCm39) |
S722P |
probably benign |
Het |
| Lmbrd2 |
A |
G |
15: 9,182,661 (GRCm39) |
E532G |
probably damaging |
Het |
| Lrfn1 |
T |
C |
7: 28,158,111 (GRCm39) |
|
probably benign |
Het |
| Lrrc4c |
A |
G |
2: 97,460,598 (GRCm39) |
D408G |
probably damaging |
Het |
| Mbp |
A |
G |
18: 82,572,670 (GRCm39) |
E122G |
probably damaging |
Het |
| Myo9a |
T |
A |
9: 59,777,836 (GRCm39) |
D1197E |
probably benign |
Het |
| Ncor1 |
A |
T |
11: 62,220,485 (GRCm39) |
|
probably benign |
Het |
| Or2y17 |
A |
G |
11: 49,232,133 (GRCm39) |
Y258C |
probably benign |
Het |
| Pdcd1lg2 |
A |
G |
19: 29,414,732 (GRCm39) |
E53G |
probably benign |
Het |
| Phex |
G |
T |
X: 156,051,489 (GRCm39) |
A469E |
probably damaging |
Het |
| Pigo |
A |
G |
4: 43,019,352 (GRCm39) |
S957P |
probably benign |
Het |
| Ppargc1b |
T |
A |
18: 61,443,946 (GRCm39) |
R406* |
probably null |
Het |
| Ppargc1b |
C |
A |
18: 61,443,945 (GRCm39) |
R422I |
probably damaging |
Het |
| Ror2 |
C |
T |
13: 53,264,764 (GRCm39) |
S764N |
probably damaging |
Het |
| Thnsl1 |
G |
T |
2: 21,216,665 (GRCm39) |
A140S |
possibly damaging |
Het |
| Tm9sf3 |
A |
G |
19: 41,235,076 (GRCm39) |
|
probably benign |
Het |
| Tma7 |
T |
A |
9: 108,911,153 (GRCm39) |
|
probably benign |
Het |
| Tmtc2 |
T |
G |
10: 105,184,354 (GRCm39) |
S514R |
probably benign |
Het |
| Unc79 |
G |
A |
12: 102,965,006 (GRCm39) |
|
probably null |
Het |
| Wdr89 |
A |
T |
12: 75,679,897 (GRCm39) |
I119N |
probably damaging |
Het |
| Wiz |
C |
A |
17: 32,575,876 (GRCm39) |
R843S |
probably damaging |
Het |
| Zfp275 |
T |
A |
X: 72,396,889 (GRCm39) |
S12T |
probably damaging |
Het |
|
| Other mutations in Bckdk |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01620:Bckdk
|
APN |
7 |
127,504,948 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
IGL02444:Bckdk
|
APN |
7 |
127,506,618 (GRCm39) |
missense |
probably damaging |
1.00 |
|
daft
|
UTSW |
7 |
127,507,182 (GRCm39) |
missense |
probably benign |
0.04 |
|
dottie
|
UTSW |
7 |
127,505,572 (GRCm39) |
nonsense |
probably null |
|
|
morse
|
UTSW |
7 |
127,506,658 (GRCm39) |
missense |
probably null |
0.94 |
|
Squished
|
UTSW |
7 |
127,504,590 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2105:Bckdk
|
UTSW |
7 |
127,506,489 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2240:Bckdk
|
UTSW |
7 |
127,504,590 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2252:Bckdk
|
UTSW |
7 |
127,504,590 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2474:Bckdk
|
UTSW |
7 |
127,504,590 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3696:Bckdk
|
UTSW |
7 |
127,504,590 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3697:Bckdk
|
UTSW |
7 |
127,504,590 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3747:Bckdk
|
UTSW |
7 |
127,504,590 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3749:Bckdk
|
UTSW |
7 |
127,504,590 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3750:Bckdk
|
UTSW |
7 |
127,504,590 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3981:Bckdk
|
UTSW |
7 |
127,504,590 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4091:Bckdk
|
UTSW |
7 |
127,504,590 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4303:Bckdk
|
UTSW |
7 |
127,504,502 (GRCm39) |
intron |
probably benign |
|
|
R4367:Bckdk
|
UTSW |
7 |
127,505,591 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4369:Bckdk
|
UTSW |
7 |
127,505,591 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4371:Bckdk
|
UTSW |
7 |
127,505,591 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4841:Bckdk
|
UTSW |
7 |
127,504,633 (GRCm39) |
splice site |
probably null |
|
|
R5615:Bckdk
|
UTSW |
7 |
127,506,489 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5930:Bckdk
|
UTSW |
7 |
127,505,145 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7215:Bckdk
|
UTSW |
7 |
127,504,282 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7490:Bckdk
|
UTSW |
7 |
127,504,145 (GRCm39) |
missense |
unknown |
|
|
R7596:Bckdk
|
UTSW |
7 |
127,505,572 (GRCm39) |
nonsense |
probably null |
|
|
R7772:Bckdk
|
UTSW |
7 |
127,505,073 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7973:Bckdk
|
UTSW |
7 |
127,505,539 (GRCm39) |
missense |
probably benign |
0.21 |
|
R8395:Bckdk
|
UTSW |
7 |
127,507,139 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8396:Bckdk
|
UTSW |
7 |
127,504,931 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8930:Bckdk
|
UTSW |
7 |
127,507,182 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8932:Bckdk
|
UTSW |
7 |
127,507,182 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9102:Bckdk
|
UTSW |
7 |
127,506,658 (GRCm39) |
missense |
probably null |
0.94 |
|
R9361:Bckdk
|
UTSW |
7 |
127,506,515 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Posted On |
2015-04-16 |
Incidental Mutation