Incidental Mutation 'R5464:Acsl1'
| ID |
433168 |
| 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 |
042850-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.193)
|
| Stock # |
R5464 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
46924074-46989088 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 46958775 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 95
(D95E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117546
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034046]
[ENSMUST00000110371]
[ENSMUST00000110372]
[ENSMUST00000130563]
[ENSMUST00000135955]
[ENSMUST00000211644]
|
| AlphaFold |
P41216 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034046
AA Change: D95E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000034046
Gene: ENSMUSG00000018796
AA Change: D95E
| 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: D95E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000106000
Gene: ENSMUSG00000018796
AA Change: D95E
| 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: D95E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000106001
Gene: ENSMUSG00000018796
AA Change: D95E
| 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: ENSMUST00000130563
|
| SMART Domains |
Protein: ENSMUSP00000114473
Gene: ENSMUSG00000018796
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
21 |
43 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135955
AA Change: D95E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000117546
Gene: ENSMUSG00000018796
AA Change: D95E
| 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: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930562C15Rik |
G |
A |
16: 4,682,227 (GRCm39) |
G180E |
probably damaging |
Het |
| Acyp2 |
C |
T |
11: 30,456,354 (GRCm39) |
E98K |
possibly damaging |
Het |
| Adamts16 |
T |
A |
13: 70,909,868 (GRCm39) |
H895L |
probably benign |
Het |
| Alox12e |
T |
C |
11: 70,208,505 (GRCm39) |
Y483C |
probably damaging |
Het |
| Atp13a2 |
T |
A |
4: 140,733,381 (GRCm39) |
F952I |
probably damaging |
Het |
| Crot |
T |
G |
5: 9,033,690 (GRCm39) |
|
probably null |
Het |
| Dnaja1 |
T |
A |
4: 40,724,133 (GRCm39) |
M98K |
probably benign |
Het |
| Eps8 |
C |
T |
6: 137,504,473 (GRCm39) |
G87R |
probably damaging |
Het |
| Flg2 |
C |
A |
3: 93,109,277 (GRCm39) |
T435K |
possibly damaging |
Het |
| Gpatch4 |
T |
C |
3: 87,962,062 (GRCm39) |
|
probably null |
Het |
| Heatr1 |
T |
A |
13: 12,448,524 (GRCm39) |
M1795K |
probably benign |
Het |
| Ift52 |
T |
C |
2: 162,871,735 (GRCm39) |
V189A |
probably benign |
Het |
| Kif21a |
T |
A |
15: 90,878,058 (GRCm39) |
D250V |
probably damaging |
Het |
| Lrrc66 |
T |
C |
5: 73,765,622 (GRCm39) |
T474A |
probably benign |
Het |
| Mcub |
T |
C |
3: 129,709,365 (GRCm39) |
E316G |
probably benign |
Het |
| Mettl15 |
C |
T |
2: 109,021,967 (GRCm39) |
V113I |
probably benign |
Het |
| Mroh8 |
T |
A |
2: 157,063,150 (GRCm39) |
I824F |
probably damaging |
Het |
| Mrpl19 |
A |
G |
6: 81,938,992 (GRCm39) |
M270T |
probably damaging |
Het |
| Naa12 |
C |
T |
18: 80,255,138 (GRCm39) |
A144V |
probably damaging |
Het |
| Or10d4 |
A |
T |
9: 39,581,066 (GRCm39) |
T238S |
probably damaging |
Het |
| Or4ac1-ps1 |
T |
C |
2: 88,370,599 (GRCm39) |
Y58C |
probably null |
Het |
| Or51a25 |
A |
G |
7: 102,373,124 (GRCm39) |
V191A |
possibly damaging |
Het |
| Or51a39 |
T |
C |
7: 102,362,889 (GRCm39) |
T244A |
probably benign |
Het |
| Or51a43 |
C |
A |
7: 103,717,674 (GRCm39) |
R188L |
possibly damaging |
Het |
| Or51f5 |
A |
G |
7: 102,424,640 (GRCm39) |
K303R |
probably benign |
Het |
| Or52a24 |
T |
A |
7: 103,381,396 (GRCm39) |
W88R |
probably damaging |
Het |
| Or5ak23 |
AAGTCTGGAGTC |
AAGTC |
2: 85,245,057 (GRCm39) |
|
probably null |
Het |
| Or6x1 |
T |
C |
9: 40,099,080 (GRCm39) |
I223T |
probably damaging |
Het |
| Pacs1 |
T |
C |
19: 5,197,235 (GRCm39) |
M430V |
probably benign |
Het |
| Piezo2 |
A |
G |
18: 63,278,176 (GRCm39) |
S243P |
probably damaging |
Het |
| Ppp1r36 |
A |
T |
12: 76,474,852 (GRCm39) |
|
probably null |
Het |
| Prdm16 |
T |
A |
4: 154,430,601 (GRCm39) |
|
probably null |
Het |
| Prss36 |
A |
T |
7: 127,533,405 (GRCm39) |
W97R |
probably damaging |
Het |
| Psmg4 |
A |
T |
13: 34,362,047 (GRCm39) |
I112F |
probably damaging |
Het |
| Ptpru |
C |
T |
4: 131,499,868 (GRCm39) |
G1259R |
probably damaging |
Het |
| Rsph4a |
T |
C |
10: 33,785,337 (GRCm39) |
I416T |
possibly damaging |
Het |
| Scn2a |
C |
T |
2: 65,532,100 (GRCm39) |
R571C |
probably damaging |
Het |
| Selenbp1 |
A |
G |
3: 94,851,727 (GRCm39) |
M423V |
probably benign |
Het |
| Serpina3i |
G |
A |
12: 104,234,751 (GRCm39) |
A361T |
possibly damaging |
Het |
| Serpinb3c |
A |
T |
1: 107,199,434 (GRCm39) |
D362E |
probably damaging |
Het |
| Sf3a3 |
T |
C |
4: 124,622,033 (GRCm39) |
|
probably null |
Het |
| Sgcg |
A |
G |
14: 61,474,304 (GRCm39) |
V113A |
possibly damaging |
Het |
| Slc3a2 |
T |
C |
19: 8,691,008 (GRCm39) |
K74R |
probably damaging |
Het |
| Smco1 |
T |
A |
16: 32,092,694 (GRCm39) |
W122R |
probably damaging |
Het |
| Snx19 |
A |
G |
9: 30,339,269 (GRCm39) |
K136E |
possibly damaging |
Het |
| Trim32 |
A |
G |
4: 65,532,625 (GRCm39) |
N394S |
probably damaging |
Het |
| Uqcrb |
T |
C |
13: 67,048,889 (GRCm39) |
D87G |
probably damaging |
Het |
| Wipf3 |
T |
C |
6: 54,462,308 (GRCm39) |
S173P |
possibly damaging |
Het |
| Zfp473 |
T |
C |
7: 44,382,062 (GRCm39) |
E756G |
probably damaging |
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 |
|
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 |
|
|
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'- ATGGCAGCAGGTATTGATGG -3'
(R):5'- TCCGGACACATTACGGGAGATG -3'
Sequencing Primer
(F):5'- ACTGGCATGTCAGTTAGCATC -3'
(R):5'- TGGAACACCAACAGCACTGG -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation