Incidental Mutation 'R2252:Bckdk'
| ID |
241745 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bckdk
|
| Ensembl Gene |
ENSMUSG00000030802 |
| Gene Name |
branched chain ketoacid dehydrogenase kinase |
| Synonyms |
BCKD-kinase |
| MMRRC Submission |
040252-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.130)
|
| Stock # |
R2252 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
127503245-127508836 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 127504590 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 105
(R105S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146303
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071056]
[ENSMUST00000124533]
[ENSMUST00000151451]
[ENSMUST00000206140]
[ENSMUST00000206745]
|
| AlphaFold |
O55028 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000071056
AA Change: R105S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000070345
Gene: ENSMUSG00000030802
AA Change: R105S
| 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 damaging
Transcript: ENSMUST00000124533
AA Change: R105S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146574
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000151451
AA Change: R105S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000116990
Gene: ENSMUSG00000030802
AA Change: R105S
| 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 damaging
Transcript: ENSMUST00000206140
AA Change: R105S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000206745
AA Change: R105S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Meta Mutation Damage Score |
0.9536 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700129C05Rik |
G |
A |
14: 59,380,061 (GRCm39) |
S79F |
probably damaging |
Het |
| Acaca |
G |
T |
11: 84,262,358 (GRCm39) |
V1987L |
probably damaging |
Het |
| B3gnt3 |
A |
T |
8: 72,145,462 (GRCm39) |
M302K |
probably damaging |
Het |
| BC048507 |
T |
C |
13: 68,011,626 (GRCm39) |
M1T |
probably null |
Het |
| Casp3 |
G |
T |
8: 47,090,990 (GRCm39) |
W214L |
probably damaging |
Het |
| Cd180 |
A |
T |
13: 102,842,906 (GRCm39) |
K651* |
probably null |
Het |
| Cdh15 |
T |
A |
8: 123,584,161 (GRCm39) |
D87E |
probably damaging |
Het |
| Cldn24 |
G |
T |
8: 48,275,363 (GRCm39) |
R62S |
probably benign |
Het |
| Cnot1 |
A |
G |
8: 96,489,814 (GRCm39) |
V463A |
probably benign |
Het |
| Cspg4 |
C |
T |
9: 56,805,330 (GRCm39) |
T2047I |
probably damaging |
Het |
| Cul2 |
A |
T |
18: 3,399,876 (GRCm39) |
L3F |
probably damaging |
Het |
| Cwc27 |
A |
T |
13: 104,768,237 (GRCm39) |
H419Q |
probably damaging |
Het |
| Dgkg |
A |
T |
16: 22,441,010 (GRCm39) |
M1K |
probably null |
Het |
| Dock5 |
A |
T |
14: 68,022,261 (GRCm39) |
L1171H |
probably damaging |
Het |
| Drc1 |
G |
T |
5: 30,500,075 (GRCm39) |
V103F |
probably benign |
Het |
| Ep400 |
A |
T |
5: 110,866,957 (GRCm39) |
N1062K |
unknown |
Het |
| Faap20 |
A |
C |
4: 155,335,010 (GRCm39) |
E37A |
possibly damaging |
Het |
| Foxa2 |
A |
G |
2: 147,886,086 (GRCm39) |
F243S |
probably damaging |
Het |
| Gzf1 |
T |
C |
2: 148,525,856 (GRCm39) |
M109T |
probably damaging |
Het |
| Itch |
T |
A |
2: 155,054,259 (GRCm39) |
M701K |
probably benign |
Het |
| Kpna1 |
T |
C |
16: 35,841,939 (GRCm39) |
Y280H |
possibly damaging |
Het |
| L1td1 |
A |
G |
4: 98,625,874 (GRCm39) |
|
probably null |
Het |
| Lrrc37a |
T |
C |
11: 103,392,293 (GRCm39) |
Q1044R |
probably benign |
Het |
| Lrrc52 |
A |
T |
1: 167,293,937 (GRCm39) |
I116N |
probably damaging |
Het |
| Mbd5 |
A |
G |
2: 49,147,698 (GRCm39) |
E636G |
probably damaging |
Het |
| Mrpl40 |
T |
C |
16: 18,694,125 (GRCm39) |
H29R |
probably benign |
Het |
| Nrip1 |
T |
C |
16: 76,088,173 (GRCm39) |
Y1128C |
probably damaging |
Het |
| Or10d3 |
G |
T |
9: 39,461,273 (GRCm39) |
A298D |
probably damaging |
Het |
| Or4g16 |
A |
G |
2: 111,136,655 (GRCm39) |
Y35C |
probably damaging |
Het |
| Or5ak20 |
A |
G |
2: 85,184,202 (GRCm39) |
S23P |
possibly damaging |
Het |
| Or8c8 |
A |
G |
9: 38,165,126 (GRCm39) |
I135V |
probably benign |
Het |
| Pard3 |
A |
T |
8: 128,337,080 (GRCm39) |
E1232V |
probably damaging |
Het |
| Pcif1 |
A |
G |
2: 164,732,799 (GRCm39) |
E628G |
probably benign |
Het |
| Pcsk1 |
C |
A |
13: 75,274,845 (GRCm39) |
A478D |
probably benign |
Het |
| Pkd1l2 |
T |
C |
8: 117,784,177 (GRCm39) |
Y700C |
probably damaging |
Het |
| Pknox2 |
T |
C |
9: 36,821,816 (GRCm39) |
N270D |
probably benign |
Het |
| Plcb2 |
T |
C |
2: 118,554,246 (GRCm39) |
N69S |
probably benign |
Het |
| Reep1 |
T |
A |
6: 71,733,426 (GRCm39) |
|
probably null |
Het |
| Sash1 |
A |
T |
10: 8,605,741 (GRCm39) |
M883K |
probably benign |
Het |
| Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
| Septin4 |
A |
G |
11: 87,480,637 (GRCm39) |
N405D |
possibly damaging |
Het |
| Serpinb3b |
T |
C |
1: 107,083,208 (GRCm39) |
I231M |
possibly damaging |
Het |
| Serping1 |
A |
G |
2: 84,600,195 (GRCm39) |
S322P |
probably damaging |
Het |
| Slc7a2 |
T |
C |
8: 41,358,658 (GRCm39) |
Y334H |
probably benign |
Het |
| Spink5 |
G |
T |
18: 44,153,891 (GRCm39) |
E1013* |
probably null |
Het |
| Thoc3 |
A |
T |
13: 54,615,646 (GRCm39) |
N139K |
probably benign |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Tubb2b |
T |
A |
13: 34,314,198 (GRCm39) |
I7F |
possibly damaging |
Het |
| Upf2 |
A |
G |
2: 5,966,271 (GRCm39) |
D297G |
unknown |
Het |
| Vmn2r18 |
T |
C |
5: 151,508,441 (GRCm39) |
I228V |
possibly damaging |
Het |
| Vmn2r98 |
A |
C |
17: 19,300,698 (GRCm39) |
S567R |
probably benign |
Het |
| Vwa5a |
T |
C |
9: 38,639,376 (GRCm39) |
I369T |
probably damaging |
Het |
| Yjefn3 |
A |
C |
8: 70,342,095 (GRCm39) |
F42V |
probably damaging |
Het |
| Zfp472 |
A |
T |
17: 33,195,257 (GRCm39) |
R69* |
probably null |
Het |
| Zfp536 |
T |
C |
7: 37,178,814 (GRCm39) |
S200G |
probably benign |
Het |
| Zfp970 |
T |
A |
2: 177,166,614 (GRCm39) |
|
probably null |
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 |
|
IGL02176:Bckdk
|
APN |
7 |
127,505,545 (GRCm39) |
missense |
probably benign |
0.31 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCTCAAAGTGCGTCTTCCC -3'
(R):5'- CTGATGTTTGAGGCTTAGTCCC -3'
Sequencing Primer
(F):5'- AAAGTGCGTCTTCCCTTTTAGC -3'
(R):5'- TGAGGCTTAGTCCCATCCAGAC -3'
|
| Posted On |
2014-10-16 |
Incidental Mutation