Incidental Mutation 'R5115:Acsl6'
ID |
394156 |
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 |
042703-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.429)
|
Stock # |
R5115 (G1)
|
Quality Score |
222 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
54194624-54255582 bp(+) (GRCm39) |
Type of Mutation |
splice site (1427 bp from exon) |
DNA Base Change (assembly) |
C to T
at 54231324 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000119714
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000145]
[ENSMUST00000064690]
[ENSMUST00000072178]
[ENSMUST00000093106]
[ENSMUST00000094194]
[ENSMUST00000101211]
[ENSMUST00000101213]
[ENSMUST00000108904]
[ENSMUST00000108905]
[ENSMUST00000156252]
[ENSMUST00000108899]
|
AlphaFold |
Q91WC3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000000145
AA Change: A347V
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000000145 Gene: ENSMUSG00000020333 AA Change: A347V
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 null
Transcript: ENSMUST00000064690
|
SMART Domains |
Protein: ENSMUSP00000069844 Gene: ENSMUSG00000020333
Domain | Start | End | E-Value | Type |
transmembrane domain
|
21 |
43 |
N/A |
INTRINSIC |
Pfam:AMP-binding
|
102 |
346 |
5.5e-45 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000072178
AA Change: A422V
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000072040 Gene: ENSMUSG00000020333 AA Change: A422V
Domain | Start | End | E-Value | Type |
transmembrane domain
|
21 |
43 |
N/A |
INTRINSIC |
Pfam:AMP-binding
|
103 |
563 |
2.3e-103 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000093106
AA Change: A422V
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000090795 Gene: ENSMUSG00000020333 AA Change: A422V
Domain | Start | End | E-Value | Type |
transmembrane domain
|
21 |
43 |
N/A |
INTRINSIC |
Pfam:AMP-binding
|
103 |
563 |
2.3e-103 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000094194
AA Change: A422V
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000091746 Gene: ENSMUSG00000020333 AA Change: A422V
Domain | Start | End | E-Value | Type |
transmembrane domain
|
21 |
43 |
N/A |
INTRINSIC |
Pfam:AMP-binding
|
103 |
563 |
2.3e-103 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000101211
AA Change: A422V
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000098771 Gene: ENSMUSG00000020333 AA Change: A422V
Domain | Start | End | E-Value | Type |
transmembrane domain
|
21 |
43 |
N/A |
INTRINSIC |
Pfam:AMP-binding
|
103 |
563 |
1.9e-103 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000101213
AA Change: A422V
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000098773 Gene: ENSMUSG00000020333 AA Change: A422V
Domain | Start | End | E-Value | Type |
transmembrane domain
|
21 |
43 |
N/A |
INTRINSIC |
Pfam:AMP-binding
|
103 |
563 |
1.9e-103 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124047
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000108904
AA Change: A447V
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000104532 Gene: ENSMUSG00000020333 AA Change: A447V
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 |
noncoding transcript
Transcript: ENSMUST00000127731
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000108905
AA Change: A447V
PolyPhen 2
Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000104533 Gene: ENSMUSG00000020333 AA Change: A447V
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 |
noncoding transcript
Transcript: ENSMUST00000127107
|
Predicted Effect |
probably null
Transcript: ENSMUST00000156252
|
SMART Domains |
Protein: ENSMUSP00000119714 Gene: ENSMUSG00000020333
Domain | Start | End | E-Value | Type |
Pfam:AMP-binding
|
67 |
363 |
4.9e-54 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000108899
|
SMART Domains |
Protein: ENSMUSP00000104527 Gene: ENSMUSG00000020333
Domain | Start | End | E-Value | Type |
transmembrane domain
|
21 |
43 |
N/A |
INTRINSIC |
Pfam:AMP-binding
|
103 |
409 |
2.3e-54 |
PFAM |
|
Meta Mutation Damage Score |
0.2581 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.2%
- 20x: 88.2%
|
Validation Efficiency |
100% (47/47) |
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: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Asic1 |
C |
T |
15: 99,569,933 (GRCm39) |
L85F |
probably damaging |
Het |
Atic |
G |
A |
1: 71,596,434 (GRCm39) |
|
probably null |
Het |
Atp1b2 |
T |
C |
11: 69,494,299 (GRCm39) |
T65A |
probably damaging |
Het |
C2cd6 |
T |
A |
1: 59,090,420 (GRCm39) |
I446L |
probably benign |
Het |
Cep83 |
A |
G |
10: 94,604,751 (GRCm39) |
H488R |
probably benign |
Het |
Cwc15 |
A |
G |
9: 14,419,192 (GRCm39) |
I163V |
probably benign |
Het |
Cyp11b2 |
A |
T |
15: 74,727,277 (GRCm39) |
|
probably null |
Het |
Fat2 |
A |
G |
11: 55,187,159 (GRCm39) |
V1229A |
probably damaging |
Het |
Fbn1 |
T |
C |
2: 125,174,303 (GRCm39) |
D1851G |
probably damaging |
Het |
Golga7 |
A |
T |
8: 23,735,986 (GRCm39) |
|
probably null |
Het |
Gsdmc2 |
A |
T |
15: 63,699,617 (GRCm39) |
H270Q |
probably benign |
Het |
Kdm4a |
G |
T |
4: 118,019,778 (GRCm39) |
P326Q |
possibly damaging |
Het |
Kng1 |
G |
A |
16: 22,888,032 (GRCm39) |
R209H |
possibly damaging |
Het |
Mfn1 |
T |
C |
3: 32,618,456 (GRCm39) |
|
probably null |
Het |
Mllt6 |
G |
A |
11: 97,560,326 (GRCm39) |
S210N |
possibly damaging |
Het |
Nlrc5 |
G |
A |
8: 95,203,447 (GRCm39) |
V516I |
possibly damaging |
Het |
Nrbp1 |
T |
G |
5: 31,401,059 (GRCm39) |
Y96* |
probably null |
Het |
Papola |
T |
C |
12: 105,793,219 (GRCm39) |
V513A |
probably benign |
Het |
Pikfyve |
T |
C |
1: 65,263,276 (GRCm39) |
|
probably benign |
Het |
Plin1 |
AGGCCACCAGGGGGTGGGC |
AGGC |
7: 79,379,692 (GRCm39) |
|
probably benign |
Het |
Prkdc |
A |
G |
16: 15,608,444 (GRCm39) |
Q3082R |
probably benign |
Het |
Rbfox1 |
A |
G |
16: 7,227,636 (GRCm39) |
S405G |
probably damaging |
Het |
Recql |
T |
C |
6: 142,304,285 (GRCm39) |
|
probably benign |
Het |
Serpina3c |
T |
C |
12: 104,113,651 (GRCm39) |
E365G |
probably damaging |
Het |
Slc17a5 |
A |
G |
9: 78,484,394 (GRCm39) |
V122A |
probably benign |
Het |
Sprr2b |
G |
T |
3: 92,224,862 (GRCm39) |
C36F |
unknown |
Het |
Stk36 |
T |
C |
1: 74,674,986 (GRCm39) |
I1307T |
probably damaging |
Het |
Tmc6 |
G |
A |
11: 117,666,014 (GRCm39) |
T300I |
probably damaging |
Het |
Ttll9 |
C |
A |
2: 152,831,510 (GRCm39) |
|
probably benign |
Het |
Vmn1r71 |
T |
A |
7: 10,481,885 (GRCm39) |
M202L |
probably benign |
Het |
Zfp276 |
A |
G |
8: 123,991,716 (GRCm39) |
|
probably benign |
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 |
R2357:Acsl6
|
UTSW |
11 |
54,218,106 (GRCm39) |
missense |
probably damaging |
0.99 |
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 |
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'- CATGGAACTCAGAGTTGGCC -3'
(R):5'- CGCTTTTCTTACCCACAGAGTG -3'
Sequencing Primer
(F):5'- CTCAGAGTTGGCCACAGAATTG -3'
(R):5'- TCTTACCCACAGAGTGAAAGGCTTG -3'
|
Posted On |
2016-06-15 |