Incidental Mutation 'R2167:Acsl1'
| ID |
235552 |
| 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 |
040170-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.193)
|
| Stock # |
R2167 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
46924074-46989088 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 46986627 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 638
(D638G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106001
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034046]
[ENSMUST00000110371]
[ENSMUST00000110372]
|
| AlphaFold |
P41216 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000034046
AA Change: D638G
PolyPhen 2
Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000034046
Gene: ENSMUSG00000018796
AA Change: D638G
| 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 |
possibly damaging
Transcript: ENSMUST00000110371
AA Change: D638G
PolyPhen 2
Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000106000
Gene: ENSMUSG00000018796
AA Change: D638G
| 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 |
possibly damaging
Transcript: ENSMUST00000110372
AA Change: D638G
PolyPhen 2
Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000106001
Gene: ENSMUSG00000018796
AA Change: D638G
| 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: ENSMUST00000133161
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000152423
AA Change: T93A
|
| SMART Domains |
Protein: ENSMUSP00000118845
Gene: ENSMUSG00000018796
AA Change: T93A
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1lci__
|
2 |
65 |
2e-11 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210929
|
| Meta Mutation Damage Score |
0.8612 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
98% (57/58) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
C |
T |
11: 9,238,532 (GRCm39) |
T710M |
probably benign |
Het |
| Acan |
A |
G |
7: 78,749,705 (GRCm39) |
E1492G |
probably benign |
Het |
| Acsl6 |
C |
A |
11: 54,217,983 (GRCm39) |
T207K |
probably benign |
Het |
| Ahnak |
A |
T |
19: 8,988,858 (GRCm39) |
K3381* |
probably null |
Het |
| Art1 |
T |
C |
7: 101,756,031 (GRCm39) |
V74A |
probably damaging |
Het |
| Bhmt2 |
A |
T |
13: 93,799,012 (GRCm39) |
W270R |
probably benign |
Het |
| Calm2 |
T |
C |
17: 87,742,573 (GRCm39) |
T118A |
probably benign |
Het |
| Ccdc88b |
G |
T |
19: 6,831,452 (GRCm39) |
Q497K |
possibly damaging |
Het |
| Ccne2 |
A |
T |
4: 11,197,249 (GRCm39) |
M183L |
probably benign |
Het |
| Cdc42bpg |
A |
G |
19: 6,367,707 (GRCm39) |
I1026V |
probably damaging |
Het |
| Celsr2 |
T |
C |
3: 108,320,509 (GRCm39) |
T768A |
probably damaging |
Het |
| Cog5 |
T |
C |
12: 31,887,288 (GRCm39) |
F470L |
probably damaging |
Het |
| Cpne5 |
T |
C |
17: 29,381,306 (GRCm39) |
D374G |
probably damaging |
Het |
| Disp2 |
A |
C |
2: 118,622,166 (GRCm39) |
E966A |
probably damaging |
Het |
| Dmrtc2 |
C |
T |
7: 24,573,344 (GRCm39) |
|
probably benign |
Het |
| Eif2b3 |
T |
A |
4: 116,885,737 (GRCm39) |
I93N |
probably damaging |
Het |
| Elfn2 |
C |
A |
15: 78,556,646 (GRCm39) |
V634L |
probably benign |
Het |
| Fasl |
T |
G |
1: 161,614,707 (GRCm39) |
S119R |
probably benign |
Het |
| Foxp2 |
C |
G |
6: 15,437,901 (GRCm39) |
P701A |
probably damaging |
Het |
| Helz |
T |
A |
11: 107,563,790 (GRCm39) |
|
probably benign |
Het |
| Kctd6 |
T |
C |
14: 8,222,683 (GRCm38) |
V175A |
probably benign |
Het |
| Leo1 |
A |
G |
9: 75,352,991 (GRCm39) |
N178S |
probably benign |
Het |
| Lhx6 |
C |
A |
2: 35,993,371 (GRCm39) |
R80L |
probably damaging |
Het |
| Man1a2 |
A |
G |
3: 100,499,216 (GRCm39) |
L406P |
probably damaging |
Het |
| Mapkap1 |
T |
C |
2: 34,487,494 (GRCm39) |
F231L |
probably damaging |
Het |
| Mknk2 |
A |
G |
10: 80,504,535 (GRCm39) |
Y256H |
probably damaging |
Het |
| Msh6 |
A |
G |
17: 88,296,911 (GRCm39) |
T1203A |
probably damaging |
Het |
| Nbeal2 |
T |
C |
9: 110,467,376 (GRCm39) |
Y604C |
probably damaging |
Het |
| Ncam1 |
G |
T |
9: 49,479,781 (GRCm39) |
Q66K |
probably benign |
Het |
| Nsd2 |
T |
A |
5: 34,040,263 (GRCm39) |
H933Q |
probably damaging |
Het |
| Or10h5 |
T |
A |
17: 33,434,542 (GRCm39) |
I262F |
probably damaging |
Het |
| Or13p3 |
T |
C |
4: 118,567,252 (GRCm39) |
V216A |
probably benign |
Het |
| Or2d3c |
A |
G |
7: 106,525,797 (GRCm39) |
Y290H |
probably damaging |
Het |
| Or5h23 |
T |
A |
16: 58,905,949 (GRCm39) |
K299I |
probably benign |
Het |
| Pappa |
A |
C |
4: 65,074,682 (GRCm39) |
D412A |
probably damaging |
Het |
| Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
| Rassf6 |
C |
T |
5: 90,751,797 (GRCm39) |
E308K |
probably damaging |
Het |
| Rb1 |
T |
C |
14: 73,449,091 (GRCm39) |
T680A |
probably damaging |
Het |
| Rfpl4 |
T |
A |
7: 5,113,852 (GRCm39) |
I104F |
probably damaging |
Het |
| Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
| Rnase6 |
A |
C |
14: 51,367,974 (GRCm39) |
D122A |
probably benign |
Het |
| Rsf1 |
GGCG |
GGCGACGGCAGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
| Sec31b |
G |
A |
19: 44,531,792 (GRCm39) |
T39I |
possibly damaging |
Het |
| Slc12a1 |
A |
G |
2: 125,015,601 (GRCm39) |
I385V |
probably damaging |
Het |
| Slc6a17 |
A |
T |
3: 107,398,817 (GRCm39) |
Y261* |
probably null |
Het |
| Supt6 |
G |
A |
11: 78,098,993 (GRCm39) |
P1626L |
possibly damaging |
Het |
| Tbx15 |
A |
G |
3: 99,233,771 (GRCm39) |
|
probably benign |
Het |
| Telo2 |
A |
G |
17: 25,329,792 (GRCm39) |
V240A |
probably benign |
Het |
| Trhr |
C |
T |
15: 44,092,638 (GRCm39) |
L292F |
probably damaging |
Het |
| Trps1 |
G |
A |
15: 50,695,126 (GRCm39) |
L340F |
possibly damaging |
Het |
| Ube2e1 |
T |
C |
14: 18,284,429 (GRCm38) |
|
probably benign |
Het |
| Yeats2 |
T |
C |
16: 20,032,151 (GRCm39) |
|
probably benign |
Het |
| Zbtb39 |
G |
A |
10: 127,578,844 (GRCm39) |
E473K |
probably benign |
Het |
| Zfp235 |
T |
A |
7: 23,840,387 (GRCm39) |
S269T |
possibly damaging |
Het |
| Zfp580 |
C |
A |
7: 5,056,063 (GRCm39) |
P141Q |
possibly 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 |
|
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'- AGAGAGGCTTACAAGGGTCC -3'
(R):5'- TAGGTCCACTCTTCAACCTCTAAAATC -3'
Sequencing Primer
(F):5'- GCTTACAAGGGTCCTTCGAAG -3'
(R):5'- CATCTATAATGGGATCTGATGCCC -3'
|
| Posted On |
2014-10-01 |
Incidental Mutation