Incidental Mutation 'IGL01356:Acsl1'
| ID |
75547 |
| 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 # |
IGL01356
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
46924074-46989088 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 46964500 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106001
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034046]
[ENSMUST00000110371]
[ENSMUST00000110372]
[ENSMUST00000135955]
[ENSMUST00000211644]
|
| AlphaFold |
P41216 |
| Predicted Effect |
probably null
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 null
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 null
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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AA474408 |
T |
C |
7: 109,660,189 (GRCm39) |
|
probably benign |
Het |
| Adck2 |
T |
C |
6: 39,560,854 (GRCm39) |
V463A |
probably benign |
Het |
| Armh3 |
C |
T |
19: 45,954,742 (GRCm39) |
C149Y |
possibly damaging |
Het |
| B4galt4 |
T |
A |
16: 38,574,506 (GRCm39) |
I224N |
probably damaging |
Het |
| Caprin1 |
T |
C |
2: 103,605,801 (GRCm39) |
T396A |
probably benign |
Het |
| Cbx3 |
T |
C |
6: 51,452,281 (GRCm39) |
V32A |
probably damaging |
Het |
| Chd1 |
A |
T |
17: 15,970,127 (GRCm39) |
K960I |
probably damaging |
Het |
| Cldn4 |
A |
G |
5: 134,975,343 (GRCm39) |
I86T |
probably benign |
Het |
| Cst12 |
A |
C |
2: 148,631,468 (GRCm39) |
D50A |
probably damaging |
Het |
| Dock10 |
A |
G |
1: 80,501,459 (GRCm39) |
Y1864H |
probably damaging |
Het |
| Dscaml1 |
G |
A |
9: 45,658,155 (GRCm39) |
G1642E |
probably benign |
Het |
| Jakmip3 |
T |
C |
7: 138,619,341 (GRCm39) |
L241P |
probably damaging |
Het |
| Kdm1a |
C |
T |
4: 136,281,202 (GRCm39) |
R669H |
probably damaging |
Het |
| Lin54 |
G |
A |
5: 100,601,876 (GRCm39) |
P455S |
probably damaging |
Het |
| Lrig1 |
A |
G |
6: 94,631,901 (GRCm39) |
Y100H |
probably benign |
Het |
| Lrig1 |
G |
A |
6: 94,586,874 (GRCm39) |
P601S |
probably damaging |
Het |
| Mtrf1 |
A |
G |
14: 79,660,865 (GRCm39) |
D419G |
probably benign |
Het |
| Naca |
C |
T |
10: 127,877,584 (GRCm39) |
|
probably benign |
Het |
| Naip1 |
A |
G |
13: 100,559,722 (GRCm39) |
L1094P |
probably damaging |
Het |
| Nell2 |
A |
T |
15: 95,127,064 (GRCm39) |
N770K |
probably damaging |
Het |
| Notch4 |
A |
G |
17: 34,800,000 (GRCm39) |
H987R |
possibly damaging |
Het |
| Or2a52 |
T |
A |
6: 43,144,324 (GRCm39) |
C111S |
probably damaging |
Het |
| Or5p63 |
T |
A |
7: 107,810,933 (GRCm39) |
I268F |
probably benign |
Het |
| Or7g26 |
T |
A |
9: 19,230,238 (GRCm39) |
M142K |
probably damaging |
Het |
| Pate13 |
T |
A |
9: 35,820,244 (GRCm39) |
C33* |
probably null |
Het |
| Plcg1 |
G |
T |
2: 160,595,813 (GRCm39) |
G561W |
probably damaging |
Het |
| Ripor3 |
T |
A |
2: 167,835,495 (GRCm39) |
M159L |
probably benign |
Het |
| Serpinb6a |
A |
G |
13: 34,109,400 (GRCm39) |
S111P |
possibly damaging |
Het |
| Tas1r3 |
A |
T |
4: 155,945,784 (GRCm39) |
H537Q |
probably benign |
Het |
| Tefm |
G |
A |
11: 80,028,823 (GRCm39) |
R43* |
probably null |
Het |
| Tiam1 |
A |
G |
16: 89,634,676 (GRCm39) |
V878A |
probably damaging |
Het |
| Vmn1r203 |
A |
G |
13: 22,708,947 (GRCm39) |
S243G |
probably damaging |
Het |
| Vmn2r124 |
G |
T |
17: 18,293,733 (GRCm39) |
V607L |
probably benign |
Het |
| Vps8 |
T |
G |
16: 21,336,107 (GRCm39) |
|
probably null |
Het |
| Ythdf2 |
A |
T |
4: 131,932,661 (GRCm39) |
D166E |
possibly damaging |
Het |
| Zan |
A |
G |
5: 137,434,694 (GRCm39) |
V2203A |
unknown |
Het |
|
| Other mutations in Acsl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00529:Acsl1
|
APN |
8 |
46,966,797 (GRCm39) |
unclassified |
probably benign |
|
|
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 |
2013-10-07 |
Incidental Mutation