Incidental Mutation 'R5270:Acsl5'
| ID |
400250 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acsl5
|
| Ensembl Gene |
ENSMUSG00000024981 |
| Gene Name |
acyl-CoA synthetase long-chain family member 5 |
| Synonyms |
Facl5, 1700030F05Rik |
| MMRRC Submission |
042835-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5270 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
55240298-55285060 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 55282650 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 585
(V585A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046585
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043150]
[ENSMUST00000076891]
[ENSMUST00000224897]
[ENSMUST00000225495]
[ENSMUST00000225963]
[ENSMUST00000226103]
|
| AlphaFold |
Q8JZR0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000043150
AA Change: V585A
PolyPhen 2
Score 0.496 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000046585
Gene: ENSMUSG00000024981
AA Change: V585A
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
Pfam:AMP-binding
|
82 |
548 |
2.7e-112 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000076891
|
| SMART Domains |
Protein: ENSMUSP00000076157
Gene: ENSMUSG00000024982
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
19 |
41 |
N/A |
INTRINSIC |
|
transmembrane domain
|
51 |
73 |
N/A |
INTRINSIC |
|
Pfam:zf-DHHC
|
94 |
244 |
3.2e-38 |
PFAM |
|
SH3
|
316 |
397 |
5.84e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224414
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224897
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225032
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225495
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225963
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226103
|
| Meta Mutation Damage Score |
0.6913 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.6%
|
| Validation Efficiency |
98% (59/60) |
| 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 uterus and spleen, and in trace amounts in normal brain, but has markedly increased levels in malignant gliomas. This gene functions in mediating fatty acid-induced glioma cell growth. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice exhibit decreased mean bone mineral content and density measurements when compared with controls. A notably decreased mean platelet count is also observed. [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 |
|---|
| Adam6a |
A |
T |
12: 113,507,747 (GRCm39) |
H40L |
possibly damaging |
Het |
| Adamts20 |
G |
A |
15: 94,180,400 (GRCm39) |
P1752S |
probably benign |
Het |
| Atp5if1 |
A |
G |
4: 132,260,611 (GRCm39) |
F27L |
probably damaging |
Het |
| B230104I21Rik |
A |
G |
4: 154,434,050 (GRCm39) |
|
probably benign |
Het |
| Ciz1 |
C |
A |
2: 32,264,511 (GRCm39) |
|
probably null |
Het |
| Crb1 |
T |
A |
1: 139,164,602 (GRCm39) |
Y1174F |
probably damaging |
Het |
| Csf2rb2 |
A |
T |
15: 78,176,182 (GRCm39) |
|
probably null |
Het |
| Cyp3a25 |
A |
T |
5: 145,918,312 (GRCm39) |
M433K |
probably benign |
Het |
| Dock4 |
A |
G |
12: 40,783,270 (GRCm39) |
I735V |
probably benign |
Het |
| Dpp6 |
C |
T |
5: 27,839,532 (GRCm39) |
S349L |
probably damaging |
Het |
| Epg5 |
T |
A |
18: 78,026,778 (GRCm39) |
N1256K |
possibly damaging |
Het |
| Epha4 |
A |
G |
1: 77,483,244 (GRCm39) |
V255A |
probably damaging |
Het |
| Gabrb1 |
A |
T |
5: 72,265,669 (GRCm39) |
D155V |
probably damaging |
Het |
| Gpr35 |
A |
T |
1: 92,910,299 (GRCm39) |
T4S |
probably benign |
Het |
| Hcrt |
T |
C |
11: 100,652,823 (GRCm39) |
T64A |
probably damaging |
Het |
| Henmt1 |
G |
A |
3: 108,867,530 (GRCm39) |
R355H |
probably benign |
Het |
| Hrh1 |
C |
A |
6: 114,458,179 (GRCm39) |
R487S |
possibly damaging |
Het |
| Ints2 |
T |
C |
11: 86,106,621 (GRCm39) |
S930G |
probably damaging |
Het |
| Irs2 |
G |
A |
8: 11,056,678 (GRCm39) |
Q585* |
probably null |
Het |
| Kcns1 |
C |
A |
2: 164,010,249 (GRCm39) |
R170L |
probably benign |
Het |
| Kdm3b |
T |
C |
18: 34,960,467 (GRCm39) |
S1351P |
probably damaging |
Het |
| Ly9 |
T |
C |
1: 171,428,730 (GRCm39) |
T297A |
probably damaging |
Het |
| M6pr |
G |
A |
6: 122,292,048 (GRCm39) |
D127N |
possibly damaging |
Het |
| Macir |
T |
C |
1: 97,573,720 (GRCm39) |
Q115R |
probably damaging |
Het |
| Nhsl3 |
T |
C |
4: 129,118,005 (GRCm39) |
T208A |
possibly damaging |
Het |
| Nit2 |
G |
A |
16: 56,977,494 (GRCm39) |
P179S |
probably damaging |
Het |
| Per1 |
T |
C |
11: 68,994,424 (GRCm39) |
M516T |
probably benign |
Het |
| Pkdrej |
A |
T |
15: 85,702,528 (GRCm39) |
I1136N |
probably damaging |
Het |
| Pramel27 |
A |
G |
4: 143,578,468 (GRCm39) |
M243V |
probably damaging |
Het |
| Prdm9 |
G |
T |
17: 15,773,625 (GRCm39) |
T257K |
probably benign |
Het |
| Prkdc |
T |
C |
16: 15,552,819 (GRCm39) |
L2085P |
probably damaging |
Het |
| Rasgrf1 |
A |
C |
9: 89,908,747 (GRCm39) |
E1240D |
probably benign |
Het |
| Rrh |
T |
C |
3: 129,606,998 (GRCm39) |
I142V |
probably benign |
Het |
| Saal1 |
G |
T |
7: 46,351,157 (GRCm39) |
|
probably benign |
Het |
| Sdcbp2 |
A |
G |
2: 151,426,812 (GRCm39) |
I70V |
probably benign |
Het |
| Skida1 |
C |
A |
2: 18,052,460 (GRCm39) |
A231S |
probably benign |
Het |
| Smtnl2 |
T |
A |
11: 72,290,743 (GRCm39) |
T401S |
probably benign |
Het |
| Sntb1 |
C |
G |
15: 55,506,191 (GRCm39) |
G461R |
probably damaging |
Het |
| Spag4 |
G |
T |
2: 155,907,853 (GRCm39) |
|
probably benign |
Het |
| Tbc1d9 |
A |
G |
8: 83,960,283 (GRCm39) |
M179V |
probably benign |
Het |
| Tm9sf1 |
G |
T |
14: 55,873,938 (GRCm39) |
T520N |
probably damaging |
Het |
| Tmem163 |
G |
A |
1: 127,419,289 (GRCm39) |
|
probably benign |
Het |
| Vmn1r47 |
A |
T |
6: 89,999,525 (GRCm39) |
Q219L |
probably damaging |
Het |
| Vmn2r104 |
A |
T |
17: 20,258,528 (GRCm39) |
C539S |
probably damaging |
Het |
| Wdr17 |
G |
T |
8: 55,096,221 (GRCm39) |
S1024R |
probably benign |
Het |
| Zc3h4 |
A |
G |
7: 16,168,440 (GRCm39) |
T850A |
unknown |
Het |
| Zfa-ps |
A |
G |
10: 52,419,552 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp146 |
G |
T |
7: 29,861,900 (GRCm39) |
N47K |
probably benign |
Het |
| Zfp353-ps |
G |
T |
8: 42,534,572 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp607a |
A |
T |
7: 27,577,730 (GRCm39) |
K267* |
probably null |
Het |
|
| Other mutations in Acsl5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01618:Acsl5
|
APN |
19 |
55,261,265 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02792:Acsl5
|
APN |
19 |
55,282,163 (GRCm39) |
critical splice donor site |
probably null |
|
|
lyrebird
|
UTSW |
19 |
55,261,251 (GRCm39) |
nonsense |
probably null |
|
|
paradise
|
UTSW |
19 |
55,266,615 (GRCm39) |
missense |
|
|
|
sharkey
|
UTSW |
19 |
55,266,405 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02796:Acsl5
|
UTSW |
19 |
55,266,601 (GRCm39) |
nonsense |
probably null |
|
|
R0206:Acsl5
|
UTSW |
19 |
55,269,001 (GRCm39) |
missense |
probably benign |
|
|
R0400:Acsl5
|
UTSW |
19 |
55,282,143 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0418:Acsl5
|
UTSW |
19 |
55,261,238 (GRCm39) |
missense |
probably benign |
0.16 |
|
R0571:Acsl5
|
UTSW |
19 |
55,277,343 (GRCm39) |
intron |
probably benign |
|
|
R0626:Acsl5
|
UTSW |
19 |
55,272,904 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0792:Acsl5
|
UTSW |
19 |
55,268,924 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1144:Acsl5
|
UTSW |
19 |
55,280,275 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1477:Acsl5
|
UTSW |
19 |
55,279,904 (GRCm39) |
missense |
probably benign |
0.23 |
|
R1522:Acsl5
|
UTSW |
19 |
55,268,924 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1927:Acsl5
|
UTSW |
19 |
55,266,586 (GRCm39) |
missense |
probably benign |
0.37 |
|
R2495:Acsl5
|
UTSW |
19 |
55,282,031 (GRCm39) |
nonsense |
probably null |
|
|
R4153:Acsl5
|
UTSW |
19 |
55,269,895 (GRCm39) |
missense |
probably benign |
0.23 |
|
R4570:Acsl5
|
UTSW |
19 |
55,280,206 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4721:Acsl5
|
UTSW |
19 |
55,268,962 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4834:Acsl5
|
UTSW |
19 |
55,268,991 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5360:Acsl5
|
UTSW |
19 |
55,279,592 (GRCm39) |
nonsense |
probably null |
|
|
R5436:Acsl5
|
UTSW |
19 |
55,267,997 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5458:Acsl5
|
UTSW |
19 |
55,282,662 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5479:Acsl5
|
UTSW |
19 |
55,268,894 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5812:Acsl5
|
UTSW |
19 |
55,283,268 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6232:Acsl5
|
UTSW |
19 |
55,268,933 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R6821:Acsl5
|
UTSW |
19 |
55,277,268 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6874:Acsl5
|
UTSW |
19 |
55,280,295 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7030:Acsl5
|
UTSW |
19 |
55,261,251 (GRCm39) |
nonsense |
probably null |
|
|
R7156:Acsl5
|
UTSW |
19 |
55,257,260 (GRCm39) |
splice site |
probably null |
|
|
R7293:Acsl5
|
UTSW |
19 |
55,279,642 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7543:Acsl5
|
UTSW |
19 |
55,266,615 (GRCm39) |
missense |
|
|
|
R7728:Acsl5
|
UTSW |
19 |
55,276,285 (GRCm39) |
nonsense |
probably null |
|
|
R7977:Acsl5
|
UTSW |
19 |
55,266,405 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7987:Acsl5
|
UTSW |
19 |
55,266,405 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8017:Acsl5
|
UTSW |
19 |
55,257,228 (GRCm39) |
missense |
probably benign |
|
|
R8221:Acsl5
|
UTSW |
19 |
55,257,262 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8527:Acsl5
|
UTSW |
19 |
55,280,259 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8542:Acsl5
|
UTSW |
19 |
55,280,259 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8869:Acsl5
|
UTSW |
19 |
55,266,523 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9000:Acsl5
|
UTSW |
19 |
55,283,943 (GRCm39) |
makesense |
probably null |
|
|
R9105:Acsl5
|
UTSW |
19 |
55,269,002 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9136:Acsl5
|
UTSW |
19 |
55,266,400 (GRCm39) |
missense |
probably benign |
0.24 |
|
R9502:Acsl5
|
UTSW |
19 |
55,271,744 (GRCm39) |
missense |
probably benign |
|
|
R9608:Acsl5
|
UTSW |
19 |
55,272,884 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0013:Acsl5
|
UTSW |
19 |
55,282,096 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGGATCGGCTAGGGATTCG -3'
(R):5'- GGTATGCATGCAACATTCTCTCG -3'
Sequencing Primer
(F):5'- ATCGGCTAGGGATTCGATTCTTTAC -3'
(R):5'- AGCCATGCTTGTCTAGAGAGCATTC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation