Incidental Mutation 'IGL03061:Acsl1'
ID |
409455 |
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 # |
IGL03061
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
46924074-46989088 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 46961374 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 106
(N106K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000106001
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034046]
[ENSMUST00000110371]
[ENSMUST00000110372]
[ENSMUST00000130563]
[ENSMUST00000135955]
[ENSMUST00000211644]
|
AlphaFold |
P41216 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000034046
AA Change: N106K
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000034046 Gene: ENSMUSG00000018796 AA Change: N106K
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: N106K
PolyPhen 2
Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000106000 Gene: ENSMUSG00000018796 AA Change: N106K
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 damaging
Transcript: ENSMUST00000110372
AA Change: N106K
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000106001 Gene: ENSMUSG00000018796 AA Change: N106K
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 |
possibly damaging
Transcript: ENSMUST00000135955
AA Change: N106K
PolyPhen 2
Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000117546 Gene: ENSMUSG00000018796 AA Change: N106K
Domain | Start | End | E-Value | Type |
transmembrane domain
|
21 |
43 |
N/A |
INTRINSIC |
SCOP:d1lci__
|
78 |
137 |
4e-4 |
SMART |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000211644
AA Change: N26K
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210929
|
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ak8 |
T |
C |
2: 28,632,767 (GRCm39) |
|
probably benign |
Het |
BC016579 |
C |
T |
16: 45,449,849 (GRCm39) |
G190S |
probably damaging |
Het |
C4bp |
A |
G |
1: 130,564,454 (GRCm39) |
V410A |
probably damaging |
Het |
Cacna2d3 |
T |
C |
14: 28,780,388 (GRCm39) |
T658A |
probably damaging |
Het |
Cadps2 |
T |
C |
6: 23,287,659 (GRCm39) |
|
probably null |
Het |
Car10 |
G |
T |
11: 93,381,351 (GRCm39) |
V105F |
probably damaging |
Het |
Car15 |
C |
T |
16: 17,653,249 (GRCm39) |
C306Y |
possibly damaging |
Het |
Casr |
C |
T |
16: 36,316,250 (GRCm39) |
A530T |
probably benign |
Het |
Col5a3 |
A |
G |
9: 20,708,868 (GRCm39) |
|
probably null |
Het |
Creld1 |
A |
G |
6: 113,465,058 (GRCm39) |
E95G |
probably damaging |
Het |
Dcstamp |
T |
A |
15: 39,623,793 (GRCm39) |
D366E |
possibly damaging |
Het |
Dnah11 |
T |
C |
12: 117,866,856 (GRCm39) |
Y4095C |
probably damaging |
Het |
Eps8l2 |
A |
G |
7: 140,937,148 (GRCm39) |
|
probably benign |
Het |
Gsn |
T |
C |
2: 35,172,471 (GRCm39) |
|
probably benign |
Het |
Ifi27l2a |
T |
C |
12: 103,401,803 (GRCm39) |
V30A |
possibly damaging |
Het |
Ifit1bl2 |
C |
T |
19: 34,597,124 (GRCm39) |
R164Q |
probably benign |
Het |
Impg2 |
T |
C |
16: 56,088,779 (GRCm39) |
S1102P |
probably damaging |
Het |
Kif24 |
G |
T |
4: 41,394,323 (GRCm39) |
P984Q |
possibly damaging |
Het |
Krtap29-1 |
T |
A |
11: 99,869,455 (GRCm39) |
Q142L |
possibly damaging |
Het |
Lpar6 |
C |
T |
14: 73,476,510 (GRCm39) |
T157I |
probably benign |
Het |
Lrrc32 |
A |
T |
7: 98,148,629 (GRCm39) |
T470S |
probably benign |
Het |
Lyl1 |
C |
T |
8: 85,429,300 (GRCm39) |
P3L |
possibly damaging |
Het |
Mroh9 |
A |
T |
1: 162,854,071 (GRCm39) |
H776Q |
probably damaging |
Het |
Myh7 |
T |
C |
14: 55,228,661 (GRCm39) |
|
probably benign |
Het |
Myh7b |
A |
G |
2: 155,462,031 (GRCm39) |
N309S |
possibly damaging |
Het |
Myo5b |
A |
T |
18: 74,767,630 (GRCm39) |
T313S |
probably benign |
Het |
Myo5b |
G |
A |
18: 74,713,615 (GRCm39) |
|
probably benign |
Het |
Npas4 |
C |
T |
19: 5,036,365 (GRCm39) |
V600M |
probably damaging |
Het |
Nrxn3 |
T |
A |
12: 89,478,698 (GRCm39) |
Y557* |
probably null |
Het |
Or2aj4 |
T |
C |
16: 19,385,463 (GRCm39) |
T57A |
possibly damaging |
Het |
Or52k2 |
A |
G |
7: 102,253,946 (GRCm39) |
I128M |
probably damaging |
Het |
Or8g53 |
T |
A |
9: 39,683,458 (GRCm39) |
T213S |
probably benign |
Het |
Pcdh15 |
A |
G |
10: 74,152,843 (GRCm39) |
I383V |
probably damaging |
Het |
Pdzrn3 |
C |
A |
6: 101,128,816 (GRCm39) |
D617Y |
probably damaging |
Het |
Prodh2 |
A |
T |
7: 30,212,258 (GRCm39) |
K408* |
probably null |
Het |
Ptprs |
T |
C |
17: 56,725,830 (GRCm39) |
I1052V |
probably damaging |
Het |
Rpl14 |
T |
C |
9: 120,401,193 (GRCm39) |
V12A |
probably damaging |
Het |
Sf3a1 |
C |
T |
11: 4,125,493 (GRCm39) |
R428C |
probably damaging |
Het |
Sgsm2 |
G |
T |
11: 74,741,962 (GRCm39) |
N1009K |
probably damaging |
Het |
Slc28a2 |
A |
T |
2: 122,284,980 (GRCm39) |
I323F |
probably damaging |
Het |
Snx19 |
T |
A |
9: 30,344,928 (GRCm39) |
F676I |
probably damaging |
Het |
Stxbp2 |
A |
T |
8: 3,691,971 (GRCm39) |
I538F |
probably benign |
Het |
Tg |
A |
C |
15: 66,543,254 (GRCm39) |
D56A |
probably damaging |
Het |
Tln1 |
G |
T |
4: 43,545,694 (GRCm39) |
A928E |
probably damaging |
Het |
Tmem94 |
T |
C |
11: 115,683,247 (GRCm39) |
S677P |
possibly damaging |
Het |
Ttc41 |
C |
A |
10: 86,572,721 (GRCm39) |
H698N |
possibly damaging |
Het |
Vcan |
T |
C |
13: 89,851,394 (GRCm39) |
T1189A |
probably benign |
Het |
Vmn1r215 |
G |
T |
13: 23,260,088 (GRCm39) |
V43F |
probably damaging |
Het |
Vmn2r28 |
A |
T |
7: 5,487,015 (GRCm39) |
N549K |
probably damaging |
Het |
Zfp598 |
T |
C |
17: 24,898,566 (GRCm39) |
V455A |
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 |
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 |
2016-08-02 |