Mutagenetix > Incidental Mutation

Incidental Mutation 'R6736:Acsl6'

528442

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

044854-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.402) question?

Stock #

R6736 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

54194624-54255582 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 54215992 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Alanine at position 124 (E124A)

Ref Sequence

ENSEMBL: ENSMUSP00000119714 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000145] [ENSMUST00000064690] [ENSMUST00000072178] [ENSMUST00000093106] [ENSMUST00000094194] [ENSMUST00000101211] [ENSMUST00000101213] [ENSMUST00000108904] [ENSMUST00000108899] [ENSMUST00000108905] [ENSMUST00000138515] [ENSMUST00000156252] [ENSMUST00000149403]

AlphaFold

Q91WC3

Predicted Effect

probably damaging
Transcript: ENSMUST00000000145
AA Change: E124A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000000145
Gene: ENSMUSG00000020333
AA Change: E124A

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: E159A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000069844
Gene: ENSMUSG00000020333
AA Change: E159A

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 damaging
Transcript: ENSMUST00000072178
AA Change: E159A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000072040
Gene: ENSMUSG00000020333
AA Change: E159A

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 damaging
Transcript: ENSMUST00000093106
AA Change: E159A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000090795
Gene: ENSMUSG00000020333
AA Change: E159A

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 damaging
Transcript: ENSMUST00000094194
AA Change: E159A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000091746
Gene: ENSMUSG00000020333
AA Change: E159A

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 damaging
Transcript: ENSMUST00000101211
AA Change: E159A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000098771
Gene: ENSMUSG00000020333
AA Change: E159A

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 damaging
Transcript: ENSMUST00000101213
AA Change: E159A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000098773
Gene: ENSMUSG00000020333
AA Change: E159A

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 damaging
Transcript: ENSMUST00000108904
AA Change: E184A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000104532
Gene: ENSMUSG00000020333
AA Change: E184A

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 damaging
Transcript: ENSMUST00000108899
AA Change: E159A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000104527
Gene: ENSMUSG00000020333
AA Change: E159A

Domain	Start	End	E-Value	Type
transmembrane domain	21	43	N/A	INTRINSIC
Pfam:AMP-binding	103	409	2.3e-54	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000108905
AA Change: E184A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000104533
Gene: ENSMUSG00000020333
AA Change: E184A

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

probably damaging
Transcript: ENSMUST00000138515
AA Change: E159A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000117128
Gene: ENSMUSG00000020333
AA Change: E159A

Domain	Start	End	E-Value	Type
transmembrane domain	21	43	N/A	INTRINSIC
Pfam:AMP-binding	101	192	5.1e-18	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000156252
AA Change: E124A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000119714
Gene: ENSMUSG00000020333
AA Change: E124A

Domain	Start	End	E-Value	Type
Pfam:AMP-binding	67	363	4.9e-54	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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.6%

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 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: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	T	C	17: 9,211,100 (GRCm39)	I83T	probably benign	Het
Aadacl4	T	G	4: 144,349,909 (GRCm39)	S389A	possibly damaging	Het
Abca13	A	T	11: 9,415,058 (GRCm39)	S4042C	probably damaging	Het
Acaca	G	A	11: 84,129,664 (GRCm39)	V340I	probably benign	Het
Acox3	T	A	5: 35,746,198 (GRCm39)		probably null	Het
Adamtsl1	T	A	4: 86,260,484 (GRCm39)	H898Q	probably damaging	Het
Agl	A	G	3: 116,575,329 (GRCm39)	S603P	probably damaging	Het
Apobec1	A	T	6: 122,558,634 (GRCm39)	M31K	probably null	Het
Astn1	T	C	1: 158,338,718 (GRCm39)		probably null	Het
Atp8a1	G	T	5: 67,824,960 (GRCm39)	D790E	probably damaging	Het
Bahd1	T	G	2: 118,746,456 (GRCm39)	M25R	possibly damaging	Het
BC034090	A	T	1: 155,117,676 (GRCm39)	N147K	possibly damaging	Het
Bfsp2	G	T	9: 103,357,403 (GRCm39)	A8E	possibly damaging	Het
Brwd1	A	T	16: 95,869,772 (GRCm39)	I85N	probably damaging	Het
Catspere2	T	A	1: 177,845,278 (GRCm39)	Y99*	probably null	Het
Ccdc24	T	A	4: 117,727,732 (GRCm39)	N145I	possibly damaging	Het
Cdhr5	G	T	7: 140,852,444 (GRCm39)	Q141K	probably damaging	Het
Cfap46	A	G	7: 139,199,887 (GRCm39)	V1998A	possibly damaging	Het
Csmd1	T	A	8: 16,052,626 (GRCm39)	Y2166F	probably damaging	Het
Cul4a	T	G	8: 13,186,219 (GRCm39)	S474A	probably benign	Het
Cutal	A	G	2: 34,778,149 (GRCm39)	T112A	probably benign	Het
Dcaf6	A	C	1: 165,227,354 (GRCm39)	S258A	possibly damaging	Het
Dek	C	T	13: 47,252,866 (GRCm39)	V180M	probably damaging	Het
Dspp	C	A	5: 104,326,041 (GRCm39)	D801E	unknown	Het
Egflam	T	C	15: 7,249,206 (GRCm39)	T871A	probably damaging	Het
Erbin	A	T	13: 103,971,274 (GRCm39)	S781T	possibly damaging	Het
Erich6	A	T	3: 58,532,475 (GRCm39)	H377Q	probably damaging	Het
Exo5	C	A	4: 120,778,953 (GRCm39)	G304V	probably damaging	Het
Eya2	C	A	2: 165,557,957 (GRCm39)	S184R	possibly damaging	Het
Fhod1	G	A	8: 106,064,522 (GRCm39)		probably benign	Het
G6pc3	A	G	11: 102,084,496 (GRCm39)	Y302C	possibly damaging	Het
Gart	T	C	16: 91,432,995 (GRCm39)	D318G	probably benign	Het
Gm10300	T	C	4: 131,802,246 (GRCm39)		probably benign	Het
Gm11937	A	G	11: 99,500,900 (GRCm39)	V39A	probably damaging	Het
Gnas	T	C	2: 174,176,044 (GRCm39)	M60T	probably damaging	Het
Grk5	G	T	19: 60,879,064 (GRCm39)	R16L	probably damaging	Het
Hcn3	A	G	3: 89,059,981 (GRCm39)	L221P	probably damaging	Het
Hddc3	G	A	7: 79,992,944 (GRCm39)	R20Q	possibly damaging	Het
Hectd4	T	C	5: 121,415,788 (GRCm39)	Y530H	possibly damaging	Het
Igf2bp1	A	T	11: 95,863,948 (GRCm39)	H247Q	probably benign	Het
Igkv4-70	T	A	6: 69,244,912 (GRCm39)	D103V	probably damaging	Het
Itpr2	T	A	6: 146,226,668 (GRCm39)	M1359L	probably damaging	Het
Kalrn	A	G	16: 34,038,293 (GRCm39)	L1013S	probably damaging	Het
Kctd21	C	T	7: 96,997,291 (GRCm39)	R255W	probably damaging	Het
Krt18	T	A	15: 101,939,204 (GRCm39)	Y263N	probably benign	Het
Lamp5	C	G	2: 135,901,483 (GRCm39)	N102K	possibly damaging	Het
Larp1	G	A	11: 57,933,473 (GRCm39)		probably null	Het
Lmnb1	A	G	18: 56,861,541 (GRCm39)	N144S	probably damaging	Het
Lrp2	T	A	2: 69,278,555 (GRCm39)	T3933S	probably benign	Het
Lrrc34	T	C	3: 30,679,008 (GRCm39)	N363S	probably benign	Het
Lrriq1	T	C	10: 103,017,750 (GRCm39)		probably null	Het
Mafa	C	A	15: 75,619,629 (GRCm39)	G48V	unknown	Het
Mboat4	T	C	8: 34,591,675 (GRCm39)	S371P	possibly damaging	Het
Mei4	A	T	9: 81,907,677 (GRCm39)	M237L	probably benign	Het
Mfsd2a	T	C	4: 122,845,054 (GRCm39)	D219G	probably benign	Het
Msl2	A	G	9: 100,978,201 (GRCm39)	N192D	probably damaging	Het
Mycbp2	C	A	14: 103,429,003 (GRCm39)	R2358M	probably null	Het
Myh10	A	G	11: 68,636,165 (GRCm39)	T185A	probably damaging	Het
Nipsnap2	T	C	5: 129,822,352 (GRCm39)		probably null	Het
Notch1	T	C	2: 26,350,298 (GRCm39)	T2281A	probably benign	Het
Odad2	C	A	18: 7,223,586 (GRCm39)	V486F	probably damaging	Het
Or12j4	T	C	7: 140,046,800 (GRCm39)	S229P	probably damaging	Het
Or12j4	G	T	7: 140,046,834 (GRCm39)	C240F	probably damaging	Het
Or1e1c	G	T	11: 73,266,402 (GRCm39)	V276F	probably benign	Het
Or4q3	A	T	14: 50,582,905 (GRCm39)	N300K	probably damaging	Het
Or5an10	G	A	19: 12,275,936 (GRCm39)	Q187*	probably null	Het
Or5d20-ps1	C	A	2: 87,931,947 (GRCm39)	C128F	probably benign	Het
Or8c17	T	A	9: 38,179,866 (GRCm39)	I19N	probably damaging	Het
Or8g30	A	G	9: 39,230,089 (GRCm39)	S274P	probably damaging	Het
Oxct1	T	A	15: 4,121,899 (GRCm39)	S283T	probably benign	Het
Pcnx2	G	T	8: 126,479,056 (GRCm39)		probably null	Het
Piwil4	A	G	9: 14,627,119 (GRCm39)	F424L	probably benign	Het
Pkhd1l1	T	C	15: 44,421,336 (GRCm39)	S3035P	probably damaging	Het
Psmc2	T	A	5: 22,005,574 (GRCm39)	D218E	probably damaging	Het
Ptpn7	C	T	1: 135,066,974 (GRCm39)	P277L	probably benign	Het
Rgs12	A	G	5: 35,180,436 (GRCm39)	K27E	probably damaging	Het
Rp1l1	G	T	14: 64,267,173 (GRCm39)	A920S	possibly damaging	Het
Rsbn1l	A	T	5: 21,113,222 (GRCm39)	H433Q	probably benign	Het
Safb	C	A	17: 56,913,023 (GRCm39)	P913Q	possibly damaging	Het
Sema7a	G	A	9: 57,867,854 (GRCm39)	V477M	probably damaging	Het
Serpina16	T	A	12: 103,635,191 (GRCm39)	T408S	possibly damaging	Het
Six5	G	A	7: 18,828,916 (GRCm39)	V119M	possibly damaging	Het
Slc6a16	C	T	7: 44,908,452 (GRCm39)	P11S	possibly damaging	Het
Smg1	A	G	7: 117,756,389 (GRCm39)		probably benign	Het
Sntg1	T	A	1: 8,515,274 (GRCm39)	I420F	probably benign	Het
Sptb	T	C	12: 76,659,954 (GRCm39)	D982G	possibly damaging	Het
Stag3	T	A	5: 138,299,761 (GRCm39)	F891I	probably damaging	Het
Sugp1	A	G	8: 70,511,953 (GRCm39)	E183G	probably benign	Het
Taf1d	T	C	9: 15,219,119 (GRCm39)		probably null	Het
Tapbp	T	C	17: 34,138,931 (GRCm39)	S33P	possibly damaging	Het
Ubap2	CT	CTTGCCCCGGT	4: 41,227,224 (GRCm39)		probably benign	Het
Ubap2	GCCCGCTTGCCCCGCT	GCCCGCTTGCCCCGCTTGCCCCGCT	4: 41,227,210 (GRCm39)		probably benign	Het
Ubash3a	A	G	17: 31,450,389 (GRCm39)	T355A	probably benign	Het
Usp16	T	G	16: 87,267,285 (GRCm39)	V225G	probably damaging	Het
Utrn	A	G	10: 12,497,047 (GRCm39)	V2454A	probably benign	Het
Vmn1r191	G	T	13: 22,363,720 (GRCm39)	F11L	probably benign	Het
Vmn2r117	A	T	17: 23,697,282 (GRCm39)	C137S	probably damaging	Het
Zfp1002	T	A	2: 150,097,198 (GRCm39)	Y77F	possibly damaging	Het
Zfp143	T	C	7: 109,691,021 (GRCm39)	M524T	probably damaging	Het
Zfp599	A	G	9: 22,161,140 (GRCm39)	C342R	probably damaging	Het
Zfp777	T	G	6: 48,001,790 (GRCm39)	K811Q	probably damaging	Het
Zfp870	T	A	17: 33,102,570 (GRCm39)	H254L	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
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
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'- GAGACAAGACTGGGCAATCC -3'
(R):5'- ATGTTCAAACAGTCCAGCTCC -3'

Sequencing Primer
(F):5'- AATCCCTGCTCAAGCCTTC -3'
(R):5'- TTGCGACTCCAGGTACAATG -3'

Posted On

2018-07-24