Incidental Mutation 'R2357:Acsl6'
| ID |
247455 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Acsl6
|
| Ensembl Gene |
ENSMUSG00000020333 |
| Gene Name |
acyl-CoA synthetase long-chain family member 6 |
| Synonyms |
Lacsl, A330035H04Rik, Facl6 |
| MMRRC Submission |
040339-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.429)
|
| Stock # |
R2357 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
54194624-54255582 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 54218106 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 248
(M248K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000069844
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000145]
[ENSMUST00000064690]
[ENSMUST00000072178]
[ENSMUST00000093106]
[ENSMUST00000094194]
[ENSMUST00000101211]
[ENSMUST00000101213]
[ENSMUST00000108905]
[ENSMUST00000108899]
[ENSMUST00000156252]
[ENSMUST00000108904]
[ENSMUST00000149403]
[ENSMUST00000138515]
|
| AlphaFold |
Q91WC3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000000145
AA Change: M213K
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000000145
Gene: ENSMUSG00000020333
AA Change: M213K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AMP-binding
|
68 |
273 |
7.7e-39 |
PFAM |
|
Pfam:AMP-binding
|
262 |
488 |
2.7e-52 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000064690
AA Change: M248K
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000069844
Gene: ENSMUSG00000020333
AA Change: M248K
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
21 |
43 |
N/A |
INTRINSIC |
|
Pfam:AMP-binding
|
102 |
346 |
5.5e-45 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000072178
AA Change: M248K
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000072040
Gene: ENSMUSG00000020333
AA Change: M248K
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
21 |
43 |
N/A |
INTRINSIC |
|
Pfam:AMP-binding
|
103 |
563 |
2.3e-103 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000093106
AA Change: M248K
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000090795
Gene: ENSMUSG00000020333
AA Change: M248K
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
21 |
43 |
N/A |
INTRINSIC |
|
Pfam:AMP-binding
|
103 |
563 |
2.3e-103 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000094194
AA Change: M248K
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000091746
Gene: ENSMUSG00000020333
AA Change: M248K
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
21 |
43 |
N/A |
INTRINSIC |
|
Pfam:AMP-binding
|
103 |
563 |
2.3e-103 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000101211
AA Change: M248K
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000098771
Gene: ENSMUSG00000020333
AA Change: M248K
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
21 |
43 |
N/A |
INTRINSIC |
|
Pfam:AMP-binding
|
103 |
563 |
1.9e-103 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000101213
AA Change: M248K
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000098773
Gene: ENSMUSG00000020333
AA Change: M248K
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
21 |
43 |
N/A |
INTRINSIC |
|
Pfam:AMP-binding
|
103 |
563 |
1.9e-103 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000108905
AA Change: M273K
PolyPhen 2
Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000104533
Gene: ENSMUSG00000020333
AA Change: M273K
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
4 |
23 |
N/A |
INTRINSIC |
|
transmembrane domain
|
46 |
68 |
N/A |
INTRINSIC |
|
Pfam:AMP-binding
|
128 |
588 |
7.7e-113 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000108899
AA Change: M248K
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000104527
Gene: ENSMUSG00000020333
AA Change: M248K
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
21 |
43 |
N/A |
INTRINSIC |
|
Pfam:AMP-binding
|
103 |
409 |
2.3e-54 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000156252
AA Change: M213K
PolyPhen 2
Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000119714
Gene: ENSMUSG00000020333
AA Change: M213K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AMP-binding
|
67 |
363 |
4.9e-54 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108904
AA Change: M273K
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000104532
Gene: ENSMUSG00000020333
AA Change: M273K
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
4 |
23 |
N/A |
INTRINSIC |
|
transmembrane domain
|
46 |
68 |
N/A |
INTRINSIC |
|
Pfam:AMP-binding
|
128 |
588 |
1.6e-103 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149403
|
| SMART Domains |
Protein: ENSMUSP00000120540
Gene: ENSMUSG00000020333
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
21 |
43 |
N/A |
INTRINSIC |
|
SCOP:d1lci__
|
82 |
139 |
2e-7 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138515
|
| SMART Domains |
Protein: ENSMUSP00000117128
Gene: ENSMUSG00000020333
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
21 |
43 |
N/A |
INTRINSIC |
|
Pfam:AMP-binding
|
101 |
192 |
5.1e-18 |
PFAM |
|
| Meta Mutation Damage Score |
0.4329 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 93.3%
|
| Validation Efficiency |
97% (66/68) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene catalyzes the formation of acyl-CoA from fatty acids, ATP, and CoA, using magnesium as a cofactor. The encoded protein plays a major role in fatty acid metabolism in the brain. Translocations with the ETV6 gene are causes of myelodysplastic syndrome with basophilia, acute myelogenous leukemia with eosinophilia, and acute eosinophilic leukemia. Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Apr 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932414N04Rik |
C |
A |
2: 68,569,844 (GRCm39) |
T520K |
possibly damaging |
Het |
| Abca13 |
T |
C |
11: 9,247,336 (GRCm39) |
L2361P |
probably damaging |
Het |
| Adam11 |
G |
T |
11: 102,665,334 (GRCm39) |
V467L |
probably benign |
Het |
| Afap1 |
C |
T |
5: 36,141,618 (GRCm39) |
H501Y |
probably damaging |
Het |
| Ankrd28 |
A |
T |
14: 31,486,251 (GRCm39) |
Y22* |
probably null |
Het |
| Ccdc124 |
A |
T |
8: 71,321,179 (GRCm39) |
L187Q |
probably damaging |
Het |
| Cdc42bpa |
G |
A |
1: 179,894,792 (GRCm39) |
S324N |
possibly damaging |
Het |
| Cgnl1 |
T |
A |
9: 71,632,950 (GRCm39) |
K134* |
probably null |
Het |
| Cnpy3 |
G |
T |
17: 47,062,909 (GRCm39) |
S47R |
probably damaging |
Het |
| Cpne8 |
A |
T |
15: 90,503,877 (GRCm39) |
L96Q |
probably damaging |
Het |
| Crisp3 |
A |
T |
17: 40,533,396 (GRCm39) |
Y212N |
probably damaging |
Het |
| Cryba1 |
A |
T |
11: 77,613,427 (GRCm39) |
|
probably benign |
Het |
| Cyc1 |
A |
G |
15: 76,229,766 (GRCm39) |
M288V |
possibly damaging |
Het |
| Dnah8 |
T |
A |
17: 30,990,846 (GRCm39) |
D3296E |
probably benign |
Het |
| Dnah8 |
A |
G |
17: 31,093,909 (GRCm39) |
T4668A |
probably benign |
Het |
| Dnajb6 |
T |
A |
5: 29,958,638 (GRCm39) |
F113I |
probably damaging |
Het |
| Dync2h1 |
A |
G |
9: 7,081,053 (GRCm39) |
I2881T |
probably benign |
Het |
| Eps8l1 |
T |
C |
7: 4,473,354 (GRCm39) |
S179P |
probably benign |
Het |
| Esco2 |
C |
A |
14: 66,064,000 (GRCm39) |
A395S |
probably benign |
Het |
| Evi5l |
T |
C |
8: 4,243,113 (GRCm39) |
|
probably benign |
Het |
| Exoc6b |
T |
C |
6: 84,966,321 (GRCm39) |
T218A |
possibly damaging |
Het |
| Gde1 |
A |
T |
7: 118,290,814 (GRCm39) |
F170L |
probably benign |
Het |
| Ggt5 |
A |
C |
10: 75,445,075 (GRCm39) |
I361L |
probably benign |
Het |
| Golga3 |
C |
T |
5: 110,350,514 (GRCm39) |
T683M |
probably damaging |
Het |
| Golgb1 |
A |
G |
16: 36,732,370 (GRCm39) |
Q539R |
probably damaging |
Het |
| Grm2 |
A |
G |
9: 106,524,780 (GRCm39) |
V645A |
probably damaging |
Het |
| Gtf2h4 |
A |
T |
17: 35,978,891 (GRCm39) |
V408D |
probably damaging |
Het |
| Gucy1a2 |
A |
T |
9: 3,797,299 (GRCm39) |
H583L |
probably damaging |
Het |
| Hivep2 |
C |
T |
10: 14,019,043 (GRCm39) |
A1938V |
probably benign |
Het |
| Iars1 |
T |
C |
13: 49,841,679 (GRCm39) |
Y56H |
probably damaging |
Het |
| Il17re |
A |
G |
6: 113,445,431 (GRCm39) |
I381V |
possibly damaging |
Het |
| Klrd1 |
T |
A |
6: 129,573,872 (GRCm39) |
*71K |
probably null |
Het |
| Kng1 |
A |
T |
16: 22,897,815 (GRCm39) |
Y405F |
possibly damaging |
Het |
| Kptn |
G |
T |
7: 15,859,709 (GRCm39) |
C311F |
probably damaging |
Het |
| Lama5 |
T |
C |
2: 179,821,890 (GRCm39) |
I2982V |
probably benign |
Het |
| Mamstr |
G |
T |
7: 45,291,754 (GRCm39) |
D35Y |
probably damaging |
Het |
| Mdc1 |
A |
G |
17: 36,158,337 (GRCm39) |
D239G |
probably benign |
Het |
| Mindy3 |
T |
G |
2: 12,408,987 (GRCm39) |
|
probably benign |
Het |
| Mrpl39 |
A |
T |
16: 84,524,452 (GRCm39) |
H204Q |
probably benign |
Het |
| Myo16 |
G |
A |
8: 10,644,905 (GRCm39) |
D1746N |
possibly damaging |
Het |
| Myo5a |
T |
A |
9: 75,108,647 (GRCm39) |
M1476K |
probably damaging |
Het |
| Nol4 |
A |
G |
18: 23,172,967 (GRCm39) |
S45P |
probably benign |
Het |
| Nol8 |
T |
C |
13: 49,807,980 (GRCm39) |
|
probably null |
Het |
| Or4f61 |
A |
G |
2: 111,922,743 (GRCm39) |
I101T |
possibly damaging |
Het |
| Or5d18 |
A |
T |
2: 87,865,028 (GRCm39) |
W152R |
probably damaging |
Het |
| Or6c207 |
C |
A |
10: 129,104,642 (GRCm39) |
K183N |
probably benign |
Het |
| Or8b56 |
T |
C |
9: 38,739,634 (GRCm39) |
S216P |
probably benign |
Het |
| Plau |
T |
A |
14: 20,888,683 (GRCm39) |
V100D |
probably damaging |
Het |
| Plpp7 |
T |
C |
2: 31,999,654 (GRCm39) |
V6A |
probably benign |
Het |
| Prr14 |
T |
C |
7: 127,074,535 (GRCm39) |
S356P |
probably benign |
Het |
| Rabl3 |
A |
G |
16: 37,362,293 (GRCm39) |
D44G |
probably null |
Het |
| Rasa4 |
T |
C |
5: 136,120,101 (GRCm39) |
V59A |
probably damaging |
Het |
| Rbm46 |
A |
T |
3: 82,771,765 (GRCm39) |
D283E |
probably benign |
Het |
| Rictor |
A |
T |
15: 6,813,043 (GRCm39) |
N932I |
probably damaging |
Het |
| Rpl9-ps6 |
A |
G |
19: 32,443,743 (GRCm39) |
V70A |
probably benign |
Het |
| S100a7l2 |
A |
T |
3: 90,995,733 (GRCm39) |
S56R |
probably benign |
Het |
| St3gal1 |
A |
G |
15: 66,985,631 (GRCm39) |
Y8H |
probably benign |
Het |
| Strn |
G |
A |
17: 78,963,028 (GRCm39) |
T745I |
probably damaging |
Het |
| Tbx15 |
C |
T |
3: 99,223,672 (GRCm39) |
|
probably null |
Het |
| Tbx20 |
T |
A |
9: 24,681,072 (GRCm39) |
D140V |
possibly damaging |
Het |
| Ttn |
A |
C |
2: 76,666,923 (GRCm39) |
Y42* |
probably null |
Het |
| Usp9y |
G |
A |
Y: 1,394,050 (GRCm39) |
T560I |
possibly damaging |
Het |
| Vmn2r111 |
A |
G |
17: 22,778,151 (GRCm39) |
|
probably benign |
Het |
| Vps13d |
GG |
GGGGGG |
4: 144,801,547 (GRCm39) |
|
probably null |
Het |
| Wfdc12 |
A |
T |
2: 164,032,170 (GRCm39) |
I40N |
probably damaging |
Het |
| Zfp78 |
G |
A |
7: 6,382,056 (GRCm39) |
G369R |
probably damaging |
Het |
|
| Other mutations in Acsl6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00964:Acsl6
|
APN |
11 |
54,216,472 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01374:Acsl6
|
APN |
11 |
54,229,245 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01455:Acsl6
|
APN |
11 |
54,214,131 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL01607:Acsl6
|
APN |
11 |
54,243,823 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01731:Acsl6
|
APN |
11 |
54,241,385 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL01775:Acsl6
|
APN |
11 |
54,236,826 (GRCm39) |
splice site |
probably benign |
|
|
IGL02487:Acsl6
|
APN |
11 |
54,227,769 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
IGL02716:Acsl6
|
APN |
11 |
54,218,102 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02893:Acsl6
|
APN |
11 |
54,236,725 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0514:Acsl6
|
UTSW |
11 |
54,241,406 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0739:Acsl6
|
UTSW |
11 |
54,227,961 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1593:Acsl6
|
UTSW |
11 |
54,214,134 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1611:Acsl6
|
UTSW |
11 |
54,216,390 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1626:Acsl6
|
UTSW |
11 |
54,242,872 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1633:Acsl6
|
UTSW |
11 |
54,219,224 (GRCm39) |
splice site |
probably benign |
|
|
R1697:Acsl6
|
UTSW |
11 |
54,220,792 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1852:Acsl6
|
UTSW |
11 |
54,251,902 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1923:Acsl6
|
UTSW |
11 |
54,216,417 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2081:Acsl6
|
UTSW |
11 |
54,211,085 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R2144:Acsl6
|
UTSW |
11 |
54,232,604 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2167:Acsl6
|
UTSW |
11 |
54,217,983 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2205:Acsl6
|
UTSW |
11 |
54,214,833 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4288:Acsl6
|
UTSW |
11 |
54,227,912 (GRCm39) |
missense |
probably benign |
0.19 |
|
R4450:Acsl6
|
UTSW |
11 |
54,219,229 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4783:Acsl6
|
UTSW |
11 |
54,227,819 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5115:Acsl6
|
UTSW |
11 |
54,231,324 (GRCm39) |
splice site |
probably null |
|
|
R5233:Acsl6
|
UTSW |
11 |
54,216,432 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R5416:Acsl6
|
UTSW |
11 |
54,227,997 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5482:Acsl6
|
UTSW |
11 |
54,217,964 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5633:Acsl6
|
UTSW |
11 |
54,228,015 (GRCm39) |
missense |
probably benign |
|
|
R5749:Acsl6
|
UTSW |
11 |
54,214,881 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6139:Acsl6
|
UTSW |
11 |
54,231,368 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6270:Acsl6
|
UTSW |
11 |
54,242,933 (GRCm39) |
missense |
probably benign |
0.45 |
|
R6337:Acsl6
|
UTSW |
11 |
54,231,368 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6571:Acsl6
|
UTSW |
11 |
54,216,390 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6736:Acsl6
|
UTSW |
11 |
54,215,992 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6918:Acsl6
|
UTSW |
11 |
54,232,582 (GRCm39) |
splice site |
probably null |
|
|
R6919:Acsl6
|
UTSW |
11 |
54,232,582 (GRCm39) |
splice site |
probably null |
|
|
R7846:Acsl6
|
UTSW |
11 |
54,251,901 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7910:Acsl6
|
UTSW |
11 |
54,236,797 (GRCm39) |
nonsense |
probably null |
|
|
R8330:Acsl6
|
UTSW |
11 |
54,236,034 (GRCm39) |
missense |
probably benign |
0.22 |
|
R8532:Acsl6
|
UTSW |
11 |
54,218,001 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8535:Acsl6
|
UTSW |
11 |
54,229,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8884:Acsl6
|
UTSW |
11 |
54,236,728 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9036:Acsl6
|
UTSW |
11 |
54,227,840 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9052:Acsl6
|
UTSW |
11 |
54,232,615 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R9455:Acsl6
|
UTSW |
11 |
54,210,752 (GRCm39) |
unclassified |
probably benign |
|
|
R9514:Acsl6
|
UTSW |
11 |
54,225,880 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9530:Acsl6
|
UTSW |
11 |
54,220,783 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9603:Acsl6
|
UTSW |
11 |
54,225,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Acsl6
|
UTSW |
11 |
54,210,998 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGTAGTACCTACTCAGTCTGCCTC -3'
(R):5'- ACTTAGAAGGTGCACGCTAGC -3'
Sequencing Primer
(F):5'- CCCGTTGGTCCCTGCAG -3'
(R):5'- AAGAACTTCCTCCACTACTACTTG -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation