Incidental Mutation 'R2083:Acsl3'
| ID |
230120 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acsl3
|
| Ensembl Gene |
ENSMUSG00000032883 |
| Gene Name |
acyl-CoA synthetase long-chain family member 3 |
| Synonyms |
C85929, 2610510B12Rik, Facl3 |
| MMRRC Submission |
040088-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.544)
|
| Stock # |
R2083 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
78635600-78685462 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 78677528 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 507
(K507N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121695
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035779]
[ENSMUST00000134566]
[ENSMUST00000142704]
|
| AlphaFold |
Q9CZW4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035779
AA Change: K507N
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000045291
Gene: ENSMUSG00000032883
AA Change: K507N
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
21 |
43 |
N/A |
INTRINSIC |
|
Pfam:AMP-binding
|
113 |
587 |
2e-94 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000134566
AA Change: K355N
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000117952
Gene: ENSMUSG00000032883
AA Change: K355N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AMP-binding
|
1 |
435 |
4.3e-88 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000142704
AA Change: K507N
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000121695
Gene: ENSMUSG00000032883
AA Change: K507N
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
21 |
43 |
N/A |
INTRINSIC |
|
Pfam:AMP-binding
|
113 |
587 |
2.5e-106 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148608
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154777
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an isozyme of the long-chain fatty-acid-coenzyme A ligase family. Although differing in substrate specificity, subcellular localization, and tissue distribution, all isozymes of this family convert free long-chain fatty acids into fatty acyl-CoA esters, and thereby play a key role in lipid biosynthesis and fatty acid degradation. This isozyme is highly expressed in brain, and preferentially utilizes myristate, arachidonate, and eicosapentaenoate as substrates. The amino acid sequence of this isozyme is 92% identical to that of rat homolog. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mice exhibit decreased blood percentages of CD4 T cells and B cells, and a decreased IgG1 response to ovalbumin. Male mutant mice exhibit growth retardation, reduced size and reduced total tissue and lean body mass. [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 |
|---|
| 1700001J03Rik |
T |
A |
5: 146,121,681 (GRCm39) |
M73L |
possibly damaging |
Het |
| AA986860 |
A |
T |
1: 130,668,806 (GRCm39) |
I58F |
probably damaging |
Het |
| Adcy3 |
T |
C |
12: 4,223,512 (GRCm39) |
Y245H |
probably damaging |
Het |
| Adgra1 |
T |
C |
7: 139,455,547 (GRCm39) |
S392P |
probably damaging |
Het |
| Ahnak |
C |
T |
19: 8,988,921 (GRCm39) |
P3402S |
probably damaging |
Het |
| Ambra1 |
T |
A |
2: 91,596,945 (GRCm39) |
I12N |
possibly damaging |
Het |
| Atp10b |
A |
G |
11: 43,103,250 (GRCm39) |
T545A |
probably benign |
Het |
| Atxn2 |
G |
T |
5: 121,922,069 (GRCm39) |
A638S |
probably benign |
Het |
| Cd109 |
T |
C |
9: 78,574,575 (GRCm39) |
S520P |
probably damaging |
Het |
| Col6a3 |
T |
C |
1: 90,709,733 (GRCm39) |
D1821G |
unknown |
Het |
| Cyp4a10 |
T |
C |
4: 115,382,505 (GRCm39) |
V265A |
possibly damaging |
Het |
| Dmrtb1 |
C |
T |
4: 107,540,809 (GRCm39) |
R184Q |
possibly damaging |
Het |
| Dnah7b |
A |
T |
1: 46,280,227 (GRCm39) |
I2719F |
possibly damaging |
Het |
| En2 |
T |
C |
5: 28,372,071 (GRCm39) |
S183P |
probably damaging |
Het |
| Etfb |
A |
G |
7: 43,105,924 (GRCm39) |
T101A |
probably benign |
Het |
| Etl4 |
T |
A |
2: 20,748,360 (GRCm39) |
S364T |
probably damaging |
Het |
| Gm17728 |
C |
A |
17: 9,641,121 (GRCm39) |
S77Y |
possibly damaging |
Het |
| Golga4 |
A |
G |
9: 118,361,658 (GRCm39) |
E221G |
probably damaging |
Het |
| Gpr37 |
T |
C |
6: 25,688,416 (GRCm39) |
N227S |
possibly damaging |
Het |
| Insyn2b |
A |
G |
11: 34,352,141 (GRCm39) |
D61G |
probably benign |
Het |
| Kctd1 |
A |
T |
18: 15,107,112 (GRCm39) |
N784K |
possibly damaging |
Het |
| Klhl22 |
A |
G |
16: 17,594,389 (GRCm39) |
T173A |
probably benign |
Het |
| Ly6e |
T |
A |
15: 74,830,168 (GRCm39) |
C41S |
probably damaging |
Het |
| Mapkbp1 |
T |
C |
2: 119,845,963 (GRCm39) |
L444P |
possibly damaging |
Het |
| Mkx |
A |
T |
18: 6,992,855 (GRCm39) |
I143K |
probably damaging |
Het |
| Mlh3 |
A |
G |
12: 85,315,815 (GRCm39) |
F124L |
probably benign |
Het |
| Nlrp1a |
A |
T |
11: 71,015,046 (GRCm39) |
L68H |
possibly damaging |
Het |
| Obscn |
A |
C |
11: 58,964,457 (GRCm39) |
Y726* |
probably null |
Het |
| Or4f59 |
C |
T |
2: 111,872,898 (GRCm39) |
V160I |
probably benign |
Het |
| Or8d1 |
T |
G |
9: 38,766,637 (GRCm39) |
V93G |
probably benign |
Het |
| Peak1 |
G |
A |
9: 56,166,233 (GRCm39) |
S565L |
probably damaging |
Het |
| Pter |
T |
A |
2: 12,983,247 (GRCm39) |
L84Q |
probably damaging |
Het |
| Ptpn4 |
A |
G |
1: 119,615,489 (GRCm39) |
L555P |
possibly damaging |
Het |
| Rpp40 |
A |
T |
13: 36,082,975 (GRCm39) |
M171K |
probably benign |
Het |
| Sacs |
A |
G |
14: 61,443,955 (GRCm39) |
I2000M |
possibly damaging |
Het |
| Scn5a |
T |
C |
9: 119,321,189 (GRCm39) |
I1458V |
probably benign |
Het |
| Slc38a4 |
T |
C |
15: 96,906,874 (GRCm39) |
D288G |
probably benign |
Het |
| Slc8a2 |
T |
G |
7: 15,868,440 (GRCm39) |
V224G |
probably damaging |
Het |
| Sptbn4 |
T |
C |
7: 27,127,681 (GRCm39) |
E173G |
probably benign |
Het |
| Tas1r1 |
T |
A |
4: 152,112,848 (GRCm39) |
H735L |
probably benign |
Het |
| Trps1 |
G |
T |
15: 50,685,701 (GRCm39) |
Q155K |
probably damaging |
Het |
| Tspyl5 |
T |
C |
15: 33,686,892 (GRCm39) |
H351R |
probably damaging |
Het |
| Ttf2 |
A |
T |
3: 100,876,817 (GRCm39) |
D21E |
probably benign |
Het |
| Ttll7 |
A |
G |
3: 146,635,859 (GRCm39) |
R398G |
possibly damaging |
Het |
| Tubgcp6 |
A |
T |
15: 89,006,579 (GRCm39) |
Y148N |
probably damaging |
Het |
| Vmn1r8 |
T |
A |
6: 57,013,325 (GRCm39) |
H125Q |
probably benign |
Het |
| Zfhx4 |
A |
G |
3: 5,468,223 (GRCm39) |
T2794A |
possibly damaging |
Het |
| Zfp27 |
T |
C |
7: 29,594,208 (GRCm39) |
I586V |
probably benign |
Het |
| Zfyve16 |
T |
C |
13: 92,660,770 (GRCm39) |
D13G |
probably damaging |
Het |
|
| Other mutations in Acsl3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01288:Acsl3
|
APN |
1 |
78,677,476 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL02201:Acsl3
|
APN |
1 |
78,676,870 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03162:Acsl3
|
APN |
1 |
78,676,887 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0601:Acsl3
|
UTSW |
1 |
78,673,896 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0658:Acsl3
|
UTSW |
1 |
78,679,004 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1389:Acsl3
|
UTSW |
1 |
78,665,999 (GRCm39) |
missense |
probably benign |
|
|
R1468:Acsl3
|
UTSW |
1 |
78,684,126 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1468:Acsl3
|
UTSW |
1 |
78,684,126 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1697:Acsl3
|
UTSW |
1 |
78,683,114 (GRCm39) |
splice site |
probably benign |
|
|
R2125:Acsl3
|
UTSW |
1 |
78,659,678 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2191:Acsl3
|
UTSW |
1 |
78,676,857 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2299:Acsl3
|
UTSW |
1 |
78,676,827 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2395:Acsl3
|
UTSW |
1 |
78,683,085 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2964:Acsl3
|
UTSW |
1 |
78,672,011 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3403:Acsl3
|
UTSW |
1 |
78,673,839 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4655:Acsl3
|
UTSW |
1 |
78,668,063 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5537:Acsl3
|
UTSW |
1 |
78,684,073 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5823:Acsl3
|
UTSW |
1 |
78,666,003 (GRCm39) |
missense |
probably benign |
|
|
R6239:Acsl3
|
UTSW |
1 |
78,674,182 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6376:Acsl3
|
UTSW |
1 |
78,674,182 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R6650:Acsl3
|
UTSW |
1 |
78,659,639 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7031:Acsl3
|
UTSW |
1 |
78,666,000 (GRCm39) |
missense |
probably benign |
|
|
R7282:Acsl3
|
UTSW |
1 |
78,659,709 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7733:Acsl3
|
UTSW |
1 |
78,665,953 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7891:Acsl3
|
UTSW |
1 |
78,681,305 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7998:Acsl3
|
UTSW |
1 |
78,671,988 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8056:Acsl3
|
UTSW |
1 |
78,659,611 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8083:Acsl3
|
UTSW |
1 |
78,669,844 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8084:Acsl3
|
UTSW |
1 |
78,669,844 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8135:Acsl3
|
UTSW |
1 |
78,674,712 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8982:Acsl3
|
UTSW |
1 |
78,677,485 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9267:Acsl3
|
UTSW |
1 |
78,674,623 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9380:Acsl3
|
UTSW |
1 |
78,659,602 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
X0025:Acsl3
|
UTSW |
1 |
78,669,919 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTGTACCTGTGCCAAGCAG -3'
(R):5'- CGATGCAGGCTAAGTACACC -3'
Sequencing Primer
(F):5'- GTACCTGTGCCAAGCAGACATG -3'
(R):5'- GATGCAGGCTAAGTACACCTGTTC -3'
|
| Posted On |
2014-09-18 |
Incidental Mutation