Incidental Mutation 'R9539:Bdh1'
| ID |
719824 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bdh1
|
| Ensembl Gene |
ENSMUSG00000046598 |
| Gene Name |
3-hydroxybutyrate dehydrogenase, type 1 |
| Synonyms |
Bdh, 2310032J20Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.158)
|
| Stock # |
R9539 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
31241115-31277719 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 31273914 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 160
(T160A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000087192
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089759]
[ENSMUST00000115226]
[ENSMUST00000115227]
[ENSMUST00000149039]
[ENSMUST00000232433]
|
| AlphaFold |
Q80XN0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000089759
AA Change: T160A
PolyPhen 2
Score 0.290 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000087192
Gene: ENSMUSG00000046598
AA Change: T160A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:adh_short
|
56 |
227 |
1.5e-24 |
PFAM |
|
Pfam:KR
|
57 |
239 |
1.9e-7 |
PFAM |
|
Pfam:adh_short_C2
|
62 |
270 |
4.7e-9 |
PFAM |
|
Pfam:DUF1776
|
69 |
318 |
4.3e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115226
AA Change: T160A
PolyPhen 2
Score 0.290 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000110881
Gene: ENSMUSG00000046598
AA Change: T160A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:adh_short
|
56 |
227 |
1.5e-24 |
PFAM |
|
Pfam:KR
|
57 |
239 |
1.9e-7 |
PFAM |
|
Pfam:adh_short_C2
|
62 |
270 |
4.7e-9 |
PFAM |
|
Pfam:DUF1776
|
69 |
318 |
4.3e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115227
AA Change: T160A
PolyPhen 2
Score 0.290 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000110882
Gene: ENSMUSG00000046598
AA Change: T160A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:adh_short
|
56 |
253 |
3.7e-43 |
PFAM |
|
Pfam:KR
|
57 |
237 |
7.9e-9 |
PFAM |
|
Pfam:adh_short_C2
|
62 |
272 |
1.1e-8 |
PFAM |
|
Pfam:DUF1776
|
69 |
318 |
1.6e-9 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000149039
AA Change: T196A
PolyPhen 2
Score 0.461 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000119164
Gene: ENSMUSG00000046598
AA Change: T196A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:adh_short
|
92 |
263 |
1.3e-24 |
PFAM |
|
Pfam:KR
|
93 |
264 |
3.2e-7 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232433
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the short-chain dehydrogenase/reductase gene family. The encoded protein forms a homotetrameric lipid-requiring enzyme of the mitochondrial membrane and has a specific requirement for phosphatidylcholine for optimal enzymatic activity. The encoded protein catalyzes the interconversion of acetoacetate and (R)-3-hydroxybutyrate, the two major ketone bodies produced during fatty acid catabolism. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asah1 |
G |
A |
8: 41,827,584 (GRCm39) |
A13V |
probably benign |
Het |
| Ccdc115 |
C |
T |
1: 34,477,930 (GRCm39) |
|
probably null |
Het |
| Ccdc162 |
T |
A |
10: 41,463,407 (GRCm39) |
E1445V |
possibly damaging |
Het |
| Ccdc88c |
T |
C |
12: 100,901,993 (GRCm39) |
E1215G |
possibly damaging |
Het |
| Cep290 |
A |
T |
10: 100,404,713 (GRCm39) |
E2358D |
probably damaging |
Het |
| Cog6 |
A |
G |
3: 52,914,722 (GRCm39) |
S245P |
probably benign |
Het |
| Copb2 |
A |
T |
9: 98,467,983 (GRCm39) |
|
probably null |
Het |
| Crtc1 |
T |
A |
8: 70,892,115 (GRCm39) |
M32L |
probably benign |
Het |
| Dagla |
A |
C |
19: 10,228,429 (GRCm39) |
|
probably null |
Het |
| Dph5 |
C |
A |
3: 115,722,305 (GRCm39) |
P261Q |
probably damaging |
Het |
| Gpr137c |
T |
C |
14: 45,516,187 (GRCm39) |
V307A |
probably damaging |
Het |
| Herpud2 |
A |
G |
9: 25,041,936 (GRCm39) |
Y79H |
probably damaging |
Het |
| Ighg2b |
C |
T |
12: 113,270,498 (GRCm39) |
V211I |
|
Het |
| Meioc |
C |
T |
11: 102,565,506 (GRCm39) |
T318M |
probably damaging |
Het |
| Mterf4 |
T |
C |
1: 93,229,188 (GRCm39) |
Y275C |
unknown |
Het |
| Mtfr1 |
T |
C |
3: 19,271,422 (GRCm39) |
V198A |
probably benign |
Het |
| Ogfrl1 |
T |
A |
1: 23,415,322 (GRCm39) |
I138F |
probably damaging |
Het |
| Pacc1 |
C |
T |
1: 191,077,174 (GRCm39) |
Q166* |
probably null |
Het |
| Pf4 |
T |
A |
5: 90,920,891 (GRCm39) |
V73D |
possibly damaging |
Het |
| Phldb1 |
T |
C |
9: 44,627,482 (GRCm39) |
E321G |
probably damaging |
Het |
| Plch1 |
T |
C |
3: 63,691,427 (GRCm39) |
S59G |
probably null |
Het |
| Pmfbp1 |
A |
G |
8: 110,240,537 (GRCm39) |
I206M |
probably damaging |
Het |
| Ppp1r15a |
A |
G |
7: 45,174,658 (GRCm39) |
V50A |
probably damaging |
Het |
| Ptprs |
T |
C |
17: 56,725,715 (GRCm39) |
H1496R |
probably benign |
Het |
| Sardh |
T |
A |
2: 27,134,298 (GRCm39) |
I73F |
probably damaging |
Het |
| Serpind1 |
G |
A |
16: 17,157,638 (GRCm39) |
W278* |
probably null |
Het |
| Slit3 |
C |
T |
11: 35,589,155 (GRCm39) |
Q1237* |
probably null |
Het |
| Smg1 |
T |
C |
7: 117,744,976 (GRCm39) |
I3059V |
probably benign |
Het |
| Spart |
T |
A |
3: 55,034,924 (GRCm39) |
W437R |
probably damaging |
Het |
| Spata6 |
C |
G |
4: 111,685,526 (GRCm39) |
A477G |
possibly damaging |
Het |
| Suox |
A |
G |
10: 128,507,383 (GRCm39) |
F215S |
probably damaging |
Het |
| Tcaf1 |
T |
C |
6: 42,655,683 (GRCm39) |
N431S |
probably benign |
Het |
| Tgfbr3l |
G |
A |
8: 4,299,679 (GRCm39) |
R154H |
probably damaging |
Het |
| Tll1 |
T |
C |
8: 64,494,457 (GRCm39) |
K766R |
probably damaging |
Het |
| Tmem63b |
T |
A |
17: 45,984,105 (GRCm39) |
K255* |
probably null |
Het |
| Tmem67 |
A |
T |
4: 12,045,814 (GRCm39) |
L881H |
probably damaging |
Het |
| Tmem67 |
G |
T |
4: 12,045,815 (GRCm39) |
L881I |
probably damaging |
Het |
| Tnrc6b |
A |
G |
15: 80,760,544 (GRCm39) |
S84G |
probably damaging |
Het |
| Traf7 |
C |
T |
17: 24,729,333 (GRCm39) |
V465M |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,618,568 (GRCm39) |
V16239I |
probably damaging |
Het |
| Unc80 |
T |
C |
1: 66,609,163 (GRCm39) |
|
probably null |
Het |
| Zc3h11a |
T |
C |
1: 133,554,927 (GRCm39) |
E351G |
probably benign |
Het |
| Zfp942 |
T |
A |
17: 22,148,014 (GRCm39) |
H205L |
probably damaging |
Het |
|
| Other mutations in Bdh1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01340:Bdh1
|
APN |
16 |
31,275,661 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01569:Bdh1
|
APN |
16 |
31,273,909 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL02065:Bdh1
|
APN |
16 |
31,268,754 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL02499:Bdh1
|
APN |
16 |
31,256,866 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL02654:Bdh1
|
APN |
16 |
31,275,433 (GRCm39) |
splice site |
probably benign |
|
|
R0092:Bdh1
|
UTSW |
16 |
31,266,380 (GRCm39) |
nonsense |
probably null |
|
|
R1371:Bdh1
|
UTSW |
16 |
31,275,720 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4579:Bdh1
|
UTSW |
16 |
31,254,954 (GRCm39) |
intron |
probably benign |
|
|
R4774:Bdh1
|
UTSW |
16 |
31,273,954 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4857:Bdh1
|
UTSW |
16 |
31,266,366 (GRCm39) |
splice site |
probably null |
|
|
R5435:Bdh1
|
UTSW |
16 |
31,275,475 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5436:Bdh1
|
UTSW |
16 |
31,275,475 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5588:Bdh1
|
UTSW |
16 |
31,256,937 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6190:Bdh1
|
UTSW |
16 |
31,268,715 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6976:Bdh1
|
UTSW |
16 |
31,256,847 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7466:Bdh1
|
UTSW |
16 |
31,266,422 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7725:Bdh1
|
UTSW |
16 |
31,256,910 (GRCm39) |
missense |
not run |
|
|
R8857:Bdh1
|
UTSW |
16 |
31,265,450 (GRCm39) |
missense |
probably benign |
|
|
R8929:Bdh1
|
UTSW |
16 |
31,275,712 (GRCm39) |
missense |
probably benign |
0.31 |
|
R9740:Bdh1
|
UTSW |
16 |
31,256,853 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
Z1177:Bdh1
|
UTSW |
16 |
31,273,995 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
Z1177:Bdh1
|
UTSW |
16 |
31,273,993 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTCCTGAGAGCCCTGGGTAAG -3'
(R):5'- TGGCTACTTATTCACCACGC -3'
Sequencing Primer
(F):5'- AGCCCTGGGTAAGAGGCTG -3'
(R):5'- TACTTATTCACCACGCCCACC -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation