Incidental Mutation 'R4224:Acsbg1'
ID |
319965 |
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 |
041044-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.122)
|
Stock # |
R4224 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
54512161-54569154 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 54523325 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Histidine
at position 434
(R434H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000034822
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034822]
|
AlphaFold |
Q99PU5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000034822
AA Change: R434H
PolyPhen 2
Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000034822 Gene: ENSMUSG00000032281 AA Change: R434H
Domain | Start | End | E-Value | Type |
Pfam:AMP-binding
|
106 |
570 |
7.9e-101 |
PFAM |
|
Meta Mutation Damage Score |
0.3317 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 96.0%
|
Validation Efficiency |
95% (42/44) |
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9330182O14Rik |
T |
C |
15: 40,005,672 (GRCm39) |
|
probably null |
Het |
Abl2 |
A |
G |
1: 156,461,417 (GRCm39) |
T440A |
probably damaging |
Het |
Acat2 |
T |
C |
17: 13,181,772 (GRCm39) |
|
probably benign |
Het |
Aif1l |
A |
T |
2: 31,852,251 (GRCm39) |
S40C |
probably damaging |
Het |
Atosa |
T |
A |
9: 74,916,008 (GRCm39) |
N209K |
probably damaging |
Het |
Atp6v1a |
C |
A |
16: 43,922,174 (GRCm39) |
A355S |
probably damaging |
Het |
Corin |
T |
C |
5: 72,500,451 (GRCm39) |
E391G |
probably damaging |
Het |
Dnah11 |
T |
G |
12: 118,094,627 (GRCm39) |
S814R |
probably benign |
Het |
Fer1l4 |
A |
C |
2: 155,862,309 (GRCm39) |
V1788G |
probably benign |
Het |
Gm7964 |
T |
G |
7: 83,406,030 (GRCm39) |
N281K |
probably damaging |
Het |
Grin1 |
T |
C |
2: 25,187,332 (GRCm39) |
|
probably benign |
Het |
Ica1 |
T |
C |
6: 8,659,960 (GRCm39) |
K112R |
probably benign |
Het |
Itpr3 |
T |
C |
17: 27,326,232 (GRCm39) |
V1334A |
probably damaging |
Het |
Khdc3 |
C |
G |
9: 73,010,153 (GRCm39) |
H70D |
possibly damaging |
Het |
Lama3 |
T |
C |
18: 12,583,460 (GRCm39) |
C683R |
probably damaging |
Het |
Mettl21a |
G |
T |
1: 64,647,115 (GRCm39) |
Y147* |
probably null |
Het |
Mr1 |
A |
T |
1: 155,006,465 (GRCm39) |
I294N |
possibly damaging |
Het |
Or52z12 |
A |
G |
7: 103,233,966 (GRCm39) |
T246A |
probably damaging |
Het |
Or7e170 |
T |
A |
9: 19,794,896 (GRCm39) |
Y235F |
probably benign |
Het |
Pals1 |
A |
G |
12: 78,876,492 (GRCm39) |
K479E |
probably damaging |
Het |
Pcdhgb7 |
T |
A |
18: 37,886,856 (GRCm39) |
D675E |
probably benign |
Het |
Polr1has |
T |
C |
17: 37,269,617 (GRCm39) |
|
probably benign |
Het |
Ptbp1 |
T |
C |
10: 79,695,047 (GRCm39) |
I125T |
probably benign |
Het |
Rnf213 |
C |
T |
11: 119,327,649 (GRCm39) |
R1879* |
probably null |
Het |
Slc8a1 |
A |
G |
17: 81,956,781 (GRCm39) |
F86L |
probably damaging |
Het |
Spdya |
G |
A |
17: 71,869,519 (GRCm39) |
V105I |
probably benign |
Het |
Sspo |
G |
T |
6: 48,428,091 (GRCm39) |
V313L |
possibly damaging |
Het |
Stard9 |
A |
G |
2: 120,495,472 (GRCm39) |
T116A |
possibly damaging |
Het |
Tnnt1 |
T |
C |
7: 4,513,006 (GRCm39) |
H92R |
probably damaging |
Het |
Trim37 |
T |
A |
11: 87,107,289 (GRCm39) |
C907S |
probably damaging |
Het |
Trim43b |
T |
A |
9: 88,972,692 (GRCm39) |
Q154L |
probably benign |
Het |
Tssk3 |
T |
C |
4: 129,384,392 (GRCm39) |
D3G |
probably benign |
Het |
Ubash3a |
T |
C |
17: 31,456,902 (GRCm39) |
Y521H |
probably damaging |
Het |
Vmn1r73 |
T |
C |
7: 11,490,506 (GRCm39) |
I108T |
probably damaging |
Het |
Vmn2r14 |
A |
G |
5: 109,364,149 (GRCm39) |
M589T |
probably benign |
Het |
Vmn2r60 |
A |
T |
7: 41,765,952 (GRCm39) |
T20S |
probably benign |
Het |
Vps13b |
A |
G |
15: 35,876,565 (GRCm39) |
T2799A |
probably damaging |
Het |
Zcchc18 |
A |
T |
X: 135,895,415 (GRCm39) |
N10I |
probably damaging |
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 |
R0644:Acsbg1
|
UTSW |
9 |
54,517,110 (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 |
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'- TCAAGCCTTACCTGTAAAGCCG -3'
(R):5'- ATGTTACATGCAAGGCCAATATCC -3'
Sequencing Primer
(F):5'- GCCTTACCTGTAAAGCCGATAGTTG -3'
(R):5'- GCAAGGCCAATATCCAAAATGTTTAC -3'
|
Posted On |
2015-06-12 |