Incidental Mutation 'R1325:Acsl1'
| ID |
157187 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acsl1
|
| Ensembl Gene |
ENSMUSG00000018796 |
| Gene Name |
acyl-CoA synthetase long-chain family member 1 |
| Synonyms |
Acas1, Facl2 |
| MMRRC Submission |
039391-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.186)
|
| Stock # |
R1325 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
46924074-46989088 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 46966337 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 164
(V164I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106001
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034046]
[ENSMUST00000110371]
[ENSMUST00000110372]
[ENSMUST00000135955]
[ENSMUST00000211644]
|
| AlphaFold |
P41216 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034046
AA Change: V164I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000034046
Gene: ENSMUSG00000018796
AA Change: V164I
| 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
AA Change: V164I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000106000
Gene: ENSMUSG00000018796
AA Change: V164I
| 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
AA Change: V164I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000106001
Gene: ENSMUSG00000018796
AA Change: V164I
| 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 |
- 1x: 98.9%
- 3x: 98.1%
- 10x: 95.8%
- 20x: 91.5%
|
| 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: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921504E06Rik |
A |
G |
2: 19,499,938 (GRCm39) |
I293T |
possibly damaging |
Het |
| Abca14 |
A |
G |
7: 119,846,545 (GRCm39) |
I666V |
probably benign |
Het |
| Aox3 |
C |
T |
1: 58,215,726 (GRCm39) |
Q1053* |
probably null |
Het |
| Arhgap31 |
A |
G |
16: 38,423,304 (GRCm39) |
S921P |
probably benign |
Het |
| Bcl6 |
A |
G |
16: 23,791,097 (GRCm39) |
M419T |
probably benign |
Het |
| Bdp1 |
A |
G |
13: 100,235,516 (GRCm39) |
I145T |
probably damaging |
Het |
| Btaf1 |
T |
C |
19: 36,946,562 (GRCm39) |
V456A |
possibly damaging |
Het |
| Cry2 |
T |
C |
2: 92,244,115 (GRCm39) |
T353A |
probably damaging |
Het |
| Dcxr |
A |
G |
11: 120,617,381 (GRCm39) |
|
probably null |
Het |
| Echdc1 |
A |
T |
10: 29,193,544 (GRCm39) |
T14S |
probably benign |
Het |
| Fgd6 |
G |
A |
10: 93,963,289 (GRCm39) |
R1129H |
probably damaging |
Het |
| Fstl1 |
A |
G |
16: 37,649,083 (GRCm39) |
D197G |
probably damaging |
Het |
| Gjb3 |
G |
A |
4: 127,220,224 (GRCm39) |
R103W |
probably damaging |
Het |
| Krt1 |
A |
T |
15: 101,756,641 (GRCm39) |
|
probably null |
Het |
| Lrrc9 |
C |
A |
12: 72,543,878 (GRCm39) |
Q1116K |
probably damaging |
Het |
| Ncor2 |
T |
C |
5: 125,195,844 (GRCm39) |
|
probably benign |
Het |
| Nrbp1 |
T |
A |
5: 31,403,157 (GRCm39) |
I210N |
probably damaging |
Het |
| Or2j6 |
G |
A |
7: 139,980,794 (GRCm39) |
P55L |
probably damaging |
Het |
| Prl2c2 |
G |
C |
13: 13,176,786 (GRCm39) |
T47R |
probably damaging |
Het |
| Slc17a6 |
A |
G |
7: 51,311,300 (GRCm39) |
E338G |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,730,738 (GRCm39) |
|
probably benign |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGAACTCTCCTGGAACCTGGCAC -3'
(R):5'- TGAGGCTGATGATTTCCACCCCAC -3'
Sequencing Primer
(F):5'- AACCTGGCACACGGTGG -3'
(R):5'- AGATCACTGCCGTAGGAGTC -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation