Incidental Mutation 'IGL00529:Acsl1'
ID |
13274 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Acsl1
|
Ensembl Gene |
ENSMUSG00000018796 |
Gene Name |
acyl-CoA synthetase long-chain family member 1 |
Synonyms |
Acas1, Facl2 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.186)
|
Stock # |
IGL00529
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
46924074-46989088 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
T to C
at 46966797 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000147647
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034046]
[ENSMUST00000110371]
[ENSMUST00000110372]
[ENSMUST00000135955]
[ENSMUST00000211644]
|
AlphaFold |
P41216 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000034046
|
SMART Domains |
Protein: ENSMUSP00000034046 Gene: ENSMUSG00000018796
Domain | Start | End | E-Value | Type |
transmembrane domain
|
21 |
43 |
N/A |
INTRINSIC |
low complexity region
|
76 |
90 |
N/A |
INTRINSIC |
Pfam:AMP-binding
|
97 |
564 |
7.9e-113 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000110371
|
SMART Domains |
Protein: ENSMUSP00000106000 Gene: ENSMUSG00000018796
Domain | Start | End | E-Value | Type |
transmembrane domain
|
21 |
43 |
N/A |
INTRINSIC |
low complexity region
|
76 |
90 |
N/A |
INTRINSIC |
Pfam:AMP-binding
|
97 |
564 |
4.1e-111 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000110372
|
SMART Domains |
Protein: ENSMUSP00000106001 Gene: ENSMUSG00000018796
Domain | Start | End | E-Value | Type |
transmembrane domain
|
21 |
43 |
N/A |
INTRINSIC |
low complexity region
|
76 |
90 |
N/A |
INTRINSIC |
Pfam:AMP-binding
|
101 |
564 |
9.7e-104 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128746
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000135955
|
SMART Domains |
Protein: ENSMUSP00000117546 Gene: ENSMUSG00000018796
Domain | Start | End | E-Value | Type |
transmembrane domain
|
21 |
43 |
N/A |
INTRINSIC |
SCOP:d1lci__
|
78 |
137 |
4e-4 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210929
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211644
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: The protein encoded by this gene belongs to a family of acyl coenzyme A synthetase proteins, which convert long chain fatty acids to acyl CoA products via an ATP-dependent pathway. This enzyme is enriched in heart, liver and adipose tissue, where it functions in lipid synthesis and mitochondrial and peroxisomal beta-oxidation. In addition, it is expressed in monocytes and macrophages where it appears to have a functionally distinct role in mediating inflammatory and innate immune responses. A pseudogene of this gene is found on chromosome 5. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014] PHENOTYPE: Liver acyl-CoA levels are reduced when this gene is conditionally knocked out in the liver. Impaired adaptive thermogenesis when this gene is conditionally knocked out in adipose tissue. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 10 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Cd36 |
A |
G |
5: 17,992,700 (GRCm39) |
I413T |
probably damaging |
Het |
Fancm |
A |
G |
12: 65,177,191 (GRCm39) |
|
probably benign |
Het |
Golim4 |
A |
T |
3: 75,793,618 (GRCm39) |
N599K |
probably damaging |
Het |
Herc2 |
T |
C |
7: 55,807,501 (GRCm39) |
V2530A |
probably benign |
Het |
Inpp5k |
A |
G |
11: 75,522,030 (GRCm39) |
|
probably benign |
Het |
Nt5c |
A |
T |
11: 115,382,151 (GRCm39) |
L76* |
probably null |
Het |
Slc25a4 |
T |
C |
8: 46,662,346 (GRCm39) |
D104G |
probably damaging |
Het |
Smchd1 |
A |
G |
17: 71,701,794 (GRCm39) |
V1066A |
probably benign |
Het |
Snapc1 |
A |
G |
12: 74,011,429 (GRCm39) |
T32A |
probably benign |
Het |
Usp32 |
G |
A |
11: 84,885,252 (GRCm39) |
A1265V |
probably damaging |
Het |
|
Other mutations in Acsl1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01356:Acsl1
|
APN |
8 |
46,964,500 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02227:Acsl1
|
APN |
8 |
46,987,402 (GRCm39) |
missense |
probably benign |
0.40 |
IGL02812:Acsl1
|
APN |
8 |
46,945,873 (GRCm39) |
missense |
possibly damaging |
0.47 |
IGL03061:Acsl1
|
APN |
8 |
46,961,374 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL03329:Acsl1
|
APN |
8 |
46,946,031 (GRCm39) |
missense |
possibly damaging |
0.88 |
R0019:Acsl1
|
UTSW |
8 |
46,974,287 (GRCm39) |
splice site |
probably null |
|
R0190:Acsl1
|
UTSW |
8 |
46,966,429 (GRCm39) |
critical splice donor site |
probably null |
|
R0233:Acsl1
|
UTSW |
8 |
46,966,606 (GRCm39) |
unclassified |
probably benign |
|
R0479:Acsl1
|
UTSW |
8 |
46,984,109 (GRCm39) |
missense |
probably damaging |
1.00 |
R1325:Acsl1
|
UTSW |
8 |
46,966,337 (GRCm39) |
missense |
probably benign |
|
R1930:Acsl1
|
UTSW |
8 |
46,984,023 (GRCm39) |
missense |
probably benign |
0.21 |
R1931:Acsl1
|
UTSW |
8 |
46,984,023 (GRCm39) |
missense |
probably benign |
0.21 |
R2035:Acsl1
|
UTSW |
8 |
46,981,621 (GRCm39) |
missense |
probably damaging |
1.00 |
R2126:Acsl1
|
UTSW |
8 |
46,986,663 (GRCm39) |
missense |
probably benign |
0.01 |
R2167:Acsl1
|
UTSW |
8 |
46,986,627 (GRCm39) |
missense |
possibly damaging |
0.91 |
R3051:Acsl1
|
UTSW |
8 |
46,974,374 (GRCm39) |
missense |
probably benign |
0.00 |
R3052:Acsl1
|
UTSW |
8 |
46,974,374 (GRCm39) |
missense |
probably benign |
0.00 |
R3753:Acsl1
|
UTSW |
8 |
46,966,602 (GRCm39) |
unclassified |
probably benign |
|
R3883:Acsl1
|
UTSW |
8 |
46,980,228 (GRCm39) |
missense |
probably benign |
0.19 |
R3956:Acsl1
|
UTSW |
8 |
46,987,495 (GRCm39) |
missense |
probably damaging |
1.00 |
R4622:Acsl1
|
UTSW |
8 |
46,979,410 (GRCm39) |
missense |
probably benign |
0.02 |
R5012:Acsl1
|
UTSW |
8 |
46,974,468 (GRCm39) |
missense |
probably benign |
0.01 |
R5168:Acsl1
|
UTSW |
8 |
46,966,303 (GRCm39) |
unclassified |
probably benign |
|
R5464:Acsl1
|
UTSW |
8 |
46,958,775 (GRCm39) |
missense |
probably benign |
|
R5678:Acsl1
|
UTSW |
8 |
46,945,887 (GRCm39) |
missense |
probably benign |
0.03 |
R7151:Acsl1
|
UTSW |
8 |
46,966,634 (GRCm39) |
missense |
probably damaging |
1.00 |
R7831:Acsl1
|
UTSW |
8 |
46,972,043 (GRCm39) |
missense |
probably benign |
0.01 |
R8719:Acsl1
|
UTSW |
8 |
46,966,700 (GRCm39) |
missense |
probably benign |
|
R9240:Acsl1
|
UTSW |
8 |
46,966,406 (GRCm39) |
missense |
probably benign |
0.02 |
R9256:Acsl1
|
UTSW |
8 |
46,945,930 (GRCm39) |
missense |
probably damaging |
0.99 |
R9302:Acsl1
|
UTSW |
8 |
46,983,470 (GRCm39) |
missense |
probably damaging |
1.00 |
R9354:Acsl1
|
UTSW |
8 |
46,966,753 (GRCm39) |
missense |
probably benign |
0.01 |
R9747:Acsl1
|
UTSW |
8 |
46,961,397 (GRCm39) |
missense |
probably benign |
0.23 |
R9786:Acsl1
|
UTSW |
8 |
46,974,486 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2012-12-06 |