Incidental Mutation 'R0644:Acsbg1'
| ID |
57005 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acsbg1
|
| Ensembl Gene |
ENSMUSG00000032281 |
| Gene Name |
acyl-CoA synthetase bubblegum family member 1 |
| Synonyms |
E230019G03Rik, Lpd, BG1, Bgm |
| MMRRC Submission |
038829-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.122)
|
| Stock # |
R0644 (G1)
|
| Quality Score |
218 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
54512161-54569154 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 54517110 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 568
(I568F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034822
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034822]
|
| AlphaFold |
Q99PU5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034822
AA Change: I568F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000034822
Gene: ENSMUSG00000032281
AA Change: I568F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AMP-binding
|
106 |
570 |
7.9e-101 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene possesses long-chain acyl-CoA synthetase activity. It is thought to play a central role in brain very long-chain fatty acids metabolism and myelinogenesis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null mutation display abnormalities in gonadotropin induced changes in testosterone production, Leydig cell morphology and long chain and very long chain fatty acid levels. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg4 |
A |
T |
9: 44,185,996 (GRCm39) |
I625N |
possibly damaging |
Het |
| Accs |
A |
G |
2: 93,669,574 (GRCm39) |
L282P |
probably damaging |
Het |
| Ass1 |
A |
T |
2: 31,404,831 (GRCm39) |
N371Y |
probably damaging |
Het |
| Atp5po |
A |
T |
16: 91,723,372 (GRCm39) |
V73E |
probably damaging |
Het |
| Bcl9 |
T |
C |
3: 97,117,813 (GRCm39) |
S294G |
probably benign |
Het |
| C2cd5 |
A |
T |
6: 142,958,950 (GRCm39) |
M1003K |
probably damaging |
Het |
| Col6a5 |
A |
G |
9: 105,825,523 (GRCm39) |
|
probably null |
Het |
| Dera |
A |
T |
6: 137,760,046 (GRCm39) |
T165S |
probably benign |
Het |
| Elf2 |
C |
T |
3: 51,215,552 (GRCm39) |
V53M |
probably damaging |
Het |
| Entpd5 |
A |
T |
12: 84,432,915 (GRCm39) |
F212L |
probably benign |
Het |
| Fndc3c1 |
T |
A |
X: 105,478,568 (GRCm39) |
T761S |
probably benign |
Het |
| Fsip2 |
A |
G |
2: 82,807,241 (GRCm39) |
T1187A |
probably benign |
Het |
| Golga2 |
T |
C |
2: 32,187,533 (GRCm39) |
S95P |
probably damaging |
Het |
| Hfm1 |
A |
T |
5: 107,046,122 (GRCm39) |
|
probably null |
Het |
| Impdh2 |
G |
T |
9: 108,440,836 (GRCm39) |
V112L |
possibly damaging |
Het |
| Kbtbd3 |
A |
T |
9: 4,329,868 (GRCm39) |
M81L |
probably damaging |
Het |
| Lactb |
T |
C |
9: 66,863,172 (GRCm39) |
R481G |
possibly damaging |
Het |
| Nacad |
C |
T |
11: 6,549,486 (GRCm39) |
C1235Y |
possibly damaging |
Het |
| Or5d37 |
T |
A |
2: 87,923,633 (GRCm39) |
M216L |
probably benign |
Het |
| Or5h26 |
G |
A |
16: 58,987,979 (GRCm39) |
H176Y |
probably damaging |
Het |
| Osbpl6 |
C |
T |
2: 76,425,184 (GRCm39) |
R878C |
probably damaging |
Het |
| Polr3a |
G |
A |
14: 24,534,232 (GRCm39) |
P91L |
probably damaging |
Het |
| Rab27a |
T |
A |
9: 73,002,705 (GRCm39) |
S211R |
probably benign |
Het |
| Scn9a |
C |
T |
2: 66,363,405 (GRCm39) |
|
probably null |
Het |
| Shank2 |
T |
C |
7: 143,965,586 (GRCm39) |
S1065P |
probably benign |
Het |
| Tent5d |
T |
C |
X: 106,914,251 (GRCm39) |
F111S |
probably damaging |
Het |
| Tgm4 |
A |
T |
9: 122,880,523 (GRCm39) |
D308V |
probably damaging |
Het |
| Vps26c |
A |
G |
16: 94,303,054 (GRCm39) |
L182P |
probably damaging |
Het |
| Ythdf3 |
T |
C |
3: 16,259,056 (GRCm39) |
I412T |
possibly damaging |
Het |
| Zfp831 |
T |
C |
2: 174,487,656 (GRCm39) |
V777A |
probably benign |
Het |
|
| Other mutations in Acsbg1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00507:Acsbg1
|
APN |
9 |
54,529,712 (GRCm39) |
splice site |
probably benign |
|
|
IGL00757:Acsbg1
|
APN |
9 |
54,530,003 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
IGL01665:Acsbg1
|
APN |
9 |
54,530,004 (GRCm39) |
missense |
probably benign |
|
|
IGL02213:Acsbg1
|
APN |
9 |
54,523,254 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0388:Acsbg1
|
UTSW |
9 |
54,516,347 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0426:Acsbg1
|
UTSW |
9 |
54,530,030 (GRCm39) |
missense |
probably benign |
|
|
R0445:Acsbg1
|
UTSW |
9 |
54,523,179 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1779:Acsbg1
|
UTSW |
9 |
54,523,346 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1826:Acsbg1
|
UTSW |
9 |
54,529,840 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4224:Acsbg1
|
UTSW |
9 |
54,523,325 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5197:Acsbg1
|
UTSW |
9 |
54,529,866 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5435:Acsbg1
|
UTSW |
9 |
54,523,153 (GRCm39) |
nonsense |
probably null |
|
|
R6241:Acsbg1
|
UTSW |
9 |
54,549,946 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6260:Acsbg1
|
UTSW |
9 |
54,535,751 (GRCm39) |
splice site |
probably null |
|
|
R6275:Acsbg1
|
UTSW |
9 |
54,517,056 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6940:Acsbg1
|
UTSW |
9 |
54,516,381 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7178:Acsbg1
|
UTSW |
9 |
54,535,745 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R7685:Acsbg1
|
UTSW |
9 |
54,535,843 (GRCm39) |
missense |
unknown |
|
|
R7943:Acsbg1
|
UTSW |
9 |
54,530,021 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8210:Acsbg1
|
UTSW |
9 |
54,517,083 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8256:Acsbg1
|
UTSW |
9 |
54,525,345 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8322:Acsbg1
|
UTSW |
9 |
54,523,268 (GRCm39) |
missense |
probably benign |
0.15 |
|
R8377:Acsbg1
|
UTSW |
9 |
54,529,789 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8726:Acsbg1
|
UTSW |
9 |
54,525,462 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Acsbg1
|
UTSW |
9 |
54,529,250 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
Z1177:Acsbg1
|
UTSW |
9 |
54,522,218 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGTAAGTGGGAAGGATCATCCCAG -3'
(R):5'- GCAGAGTCAGAAGCTAACGATCACC -3'
Sequencing Primer
(F):5'- TGTGAATACCAGATGTACCTCGG -3'
(R):5'- GATCACCAAGCCCCTGCTG -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation