Incidental Mutation 'R5012:Acsl1'
| ID |
390574 |
| 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 |
042603-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.186)
|
| Stock # |
R5012 (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 46974468 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 314
(S314G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106000
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034046]
[ENSMUST00000110371]
[ENSMUST00000110372]
|
| 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
AA Change: S314G
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000106000
Gene: ENSMUSG00000018796
AA Change: S314G
| 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 |
noncoding transcript
Transcript: ENSMUST00000210929
|
| Meta Mutation Damage Score |
0.0822 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 90.9%
|
| Validation Efficiency |
98% (45/46) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810055G02Rik |
C |
A |
19: 3,767,217 (GRCm39) |
T268K |
possibly damaging |
Het |
| 2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
| 2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
| Aftph |
G |
A |
11: 20,648,264 (GRCm39) |
|
probably benign |
Het |
| Ankrd34c |
T |
G |
9: 89,611,709 (GRCm39) |
I211L |
probably benign |
Het |
| Anks1b |
A |
G |
10: 90,194,999 (GRCm39) |
T560A |
probably benign |
Het |
| Carmil1 |
G |
T |
13: 24,208,403 (GRCm39) |
S1247R |
possibly damaging |
Het |
| Elf1 |
T |
A |
14: 79,808,174 (GRCm39) |
Y172N |
probably damaging |
Het |
| Emx1 |
C |
T |
6: 85,180,955 (GRCm39) |
P224L |
probably benign |
Het |
| Fastkd2 |
A |
T |
1: 63,789,055 (GRCm39) |
|
probably benign |
Het |
| Fbxw27 |
C |
A |
9: 109,602,271 (GRCm39) |
C234F |
probably benign |
Het |
| Grn |
C |
A |
11: 102,321,380 (GRCm39) |
|
probably benign |
Het |
| Igkv6-23 |
C |
A |
6: 70,237,529 (GRCm39) |
A71S |
probably damaging |
Het |
| Igsf10 |
A |
G |
3: 59,226,143 (GRCm39) |
L2510P |
probably damaging |
Het |
| Itgal |
T |
C |
7: 126,898,802 (GRCm39) |
|
probably null |
Het |
| Kmt2c |
C |
A |
5: 25,504,710 (GRCm39) |
G122* |
probably null |
Het |
| Lamtor2 |
C |
T |
3: 88,460,163 (GRCm39) |
R3H |
possibly damaging |
Het |
| Magi2 |
A |
T |
5: 20,670,618 (GRCm39) |
T321S |
probably damaging |
Het |
| Mau2 |
A |
G |
8: 70,484,107 (GRCm39) |
|
probably null |
Het |
| Mcm7 |
A |
T |
5: 138,167,609 (GRCm39) |
|
probably null |
Het |
| Mitd1 |
A |
T |
1: 37,924,374 (GRCm39) |
C59S |
probably benign |
Het |
| Muc6 |
A |
G |
7: 141,216,570 (GRCm39) |
L2636P |
possibly damaging |
Het |
| Paip1 |
A |
G |
13: 119,584,338 (GRCm39) |
M233V |
probably benign |
Het |
| Pcdhb11 |
C |
A |
18: 37,556,029 (GRCm39) |
T453N |
possibly damaging |
Het |
| Plcb1 |
A |
G |
2: 135,175,320 (GRCm39) |
N545S |
probably null |
Het |
| Prl8a9 |
A |
T |
13: 27,746,594 (GRCm39) |
|
probably null |
Het |
| Psmc2 |
A |
G |
5: 22,007,563 (GRCm39) |
T308A |
probably benign |
Het |
| Rassf2 |
C |
A |
2: 131,851,610 (GRCm39) |
R44L |
probably damaging |
Het |
| Scn11a |
A |
T |
9: 119,609,944 (GRCm39) |
M968K |
probably benign |
Het |
| Septin4 |
T |
A |
11: 87,475,230 (GRCm39) |
S146T |
possibly damaging |
Het |
| Slc41a2 |
A |
G |
10: 83,137,127 (GRCm39) |
I260T |
probably benign |
Het |
| Steap2 |
G |
C |
5: 5,727,784 (GRCm39) |
L184V |
possibly damaging |
Het |
| Ttll5 |
G |
A |
12: 85,973,618 (GRCm39) |
E776K |
possibly damaging |
Het |
| Vipr1 |
A |
T |
9: 121,487,111 (GRCm39) |
|
probably null |
Het |
| Yars2 |
T |
C |
16: 16,121,448 (GRCm39) |
S201P |
probably damaging |
Het |
| Zfp386 |
T |
A |
12: 116,022,864 (GRCm39) |
I194K |
probably benign |
Het |
| Zfp988 |
A |
G |
4: 147,416,060 (GRCm39) |
I165V |
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 |
|
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 |
|
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'- TCAGAGTGCATTCATCGCTTC -3'
(R):5'- ACTCTGGATTCTAAACTGCAGG -3'
Sequencing Primer
(F):5'- GCATTCATCGCTTCCACAGATGATG -3'
(R):5'- CTGCAGGATTAAAGTTCAAATACCC -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation