Mutagenetix > Incidental Mutation

Incidental Mutation 'R0514:Acsl6'

48129

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

038708-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.429) question?

Stock #

R0514 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

54194624-54255582 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 54241406 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 579 (D579V)

Ref Sequence

ENSEMBL: ENSMUSP00000104532 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000145] [ENSMUST00000072178] [ENSMUST00000093106] [ENSMUST00000094194] [ENSMUST00000101211] [ENSMUST00000101213] [ENSMUST00000108904] [ENSMUST00000108905]

AlphaFold

Q91WC3

Predicted Effect

probably damaging
Transcript: ENSMUST00000000145
AA Change: D479V

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

SMART Domains

Protein: ENSMUSP00000000145
Gene: ENSMUSG00000020333
AA Change: D479V

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: ENSMUST00000072178
AA Change: D554V

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000072040
Gene: ENSMUSG00000020333
AA Change: D554V

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: D554V

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000090795
Gene: ENSMUSG00000020333
AA Change: D554V

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: D554V

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000091746
Gene: ENSMUSG00000020333
AA Change: D554V

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: D554V

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000098771
Gene: ENSMUSG00000020333
AA Change: D554V

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: D554V

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000098773
Gene: ENSMUSG00000020333
AA Change: D554V

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: D579V

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

SMART Domains

Protein: ENSMUSP00000104532
Gene: ENSMUSG00000020333
AA Change: D579V

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: ENSMUST00000108905
AA Change: D579V

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000104533
Gene: ENSMUSG00000020333
AA Change: D579V

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

unknown
Transcript: ENSMUST00000139484
AA Change: D43V

SMART Domains

Protein: ENSMUSP00000120693
Gene: ENSMUSG00000020333
AA Change: D43V

Domain	Start	End	E-Value	Type
Pfam:AMP-binding	1	53	6.6e-21	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127107

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127731

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124047

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.1%

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp3	T	A	9: 104,197,177 (GRCm39)	Y154F	probably damaging	Het
Adamts18	C	T	8: 114,465,401 (GRCm39)		probably null	Het
Adamts20	A	T	15: 94,168,257 (GRCm39)	V1882D	probably damaging	Het
Add3	A	T	19: 53,225,274 (GRCm39)	K465*	probably null	Het
Ago1	T	G	4: 126,333,388 (GRCm39)	I524L	probably benign	Het
Akr1c18	A	G	13: 4,187,190 (GRCm39)	M208T	probably benign	Het
Anapc1	C	A	2: 128,474,575 (GRCm39)	L1413F	probably damaging	Het
Arid4b	A	T	13: 14,358,902 (GRCm39)	D646V	probably damaging	Het
Arnt2	T	C	7: 83,954,067 (GRCm39)	E261G	probably benign	Het
Bccip	C	T	7: 133,320,859 (GRCm39)	T211I	possibly damaging	Het
Bsn	T	C	9: 108,002,981 (GRCm39)	S475G	probably benign	Het
Cdh26	G	A	2: 178,108,621 (GRCm39)		probably null	Het
Ceacam2	A	G	7: 25,220,356 (GRCm39)	F414S	probably benign	Het
Cep43	A	G	17: 8,410,266 (GRCm39)	N342S	possibly damaging	Het
Cfb	T	C	17: 35,079,874 (GRCm39)	R172G	probably damaging	Het
Cntnap5b	A	C	1: 99,700,511 (GRCm39)	T8P	probably benign	Het
Cpne9	A	T	6: 113,266,974 (GRCm39)	I136L	probably damaging	Het
Crtc1	A	T	8: 70,855,079 (GRCm39)		probably null	Het
Dcdc2a	A	T	13: 25,303,369 (GRCm39)	H300L	probably benign	Het
Dhdh	C	T	7: 45,138,130 (GRCm39)	V20M	probably benign	Het
Dhx34	T	C	7: 15,944,462 (GRCm39)	Q584R	probably benign	Het
Dis3l2	A	G	1: 86,974,814 (GRCm39)	Y701C	probably damaging	Het
Dmrt2	T	C	19: 25,653,019 (GRCm39)		probably null	Het
Dnah5	A	G	15: 28,366,467 (GRCm39)	T2727A	probably damaging	Het
Dop1a	A	G	9: 86,402,787 (GRCm39)	E1329G	probably damaging	Het
Evpl	A	G	11: 116,114,117 (GRCm39)	V1191A	probably damaging	Het
Fhl4	T	C	10: 84,934,250 (GRCm39)	D177G	probably damaging	Het
Gask1a	A	G	9: 121,807,418 (GRCm39)	T521A	possibly damaging	Het
Heg1	A	G	16: 33,547,126 (GRCm39)	T662A	possibly damaging	Het
Ifih1	A	G	2: 62,453,735 (GRCm39)		probably null	Het
Il13	T	C	11: 53,523,345 (GRCm39)	R87G	possibly damaging	Het
Kcnc3	T	A	7: 44,245,352 (GRCm39)	Y547*	probably null	Het
Krt81	C	A	15: 101,361,508 (GRCm39)	R24L	possibly damaging	Het
Lama1	G	A	17: 68,071,693 (GRCm39)	G860D	probably benign	Het
Lmo7	T	C	14: 102,124,609 (GRCm39)	L356P	probably damaging	Het
Lmo7	A	T	14: 102,133,995 (GRCm39)	K447I	probably damaging	Het
Lrp2bp	A	G	8: 46,464,995 (GRCm39)	H38R	probably damaging	Het
Magi3	G	A	3: 103,922,338 (GRCm39)	P1460S	probably damaging	Het
Megf8	T	A	7: 25,063,728 (GRCm39)	C2695S	possibly damaging	Het
Mrgprb2	T	G	7: 48,201,718 (GRCm39)	S336R	probably benign	Het
Mrgprx2	C	T	7: 48,132,712 (GRCm39)	M1I	probably null	Het
Mug2	T	C	6: 122,058,558 (GRCm39)	L1320P	probably damaging	Het
Noxred1	A	G	12: 87,273,838 (GRCm39)	S68P	probably benign	Het
Or51f5	T	A	7: 102,424,539 (GRCm39)	H269Q	probably benign	Het
Or56b1b	T	A	7: 108,164,879 (GRCm39)	Y41F	probably damaging	Het
Os9	C	T	10: 126,955,508 (GRCm39)	C123Y	probably damaging	Het
Ostf1	T	A	19: 18,573,723 (GRCm39)	T42S	probably benign	Het
Parg	C	A	14: 31,976,517 (GRCm39)	T186K	possibly damaging	Het
Pcnx1	T	A	12: 82,041,884 (GRCm39)	M2172K	probably benign	Het
Pip4k2a	A	G	2: 18,850,747 (GRCm39)	I360T	probably damaging	Het
Pkn2	T	C	3: 142,516,219 (GRCm39)	D568G	possibly damaging	Het
Plch2	A	G	4: 155,083,343 (GRCm39)	S431P	probably damaging	Het
Prl8a6	A	T	13: 27,616,990 (GRCm39)	C233*	probably null	Het
Prox1	G	A	1: 189,893,653 (GRCm39)	T264I	probably damaging	Het
Prr5	A	G	15: 84,586,967 (GRCm39)	N248S	probably benign	Het
Psip1	A	C	4: 83,378,274 (GRCm39)	S407R	probably damaging	Het
Rab32	A	T	10: 10,426,640 (GRCm39)	V102E	probably damaging	Het
Rap1gap2	T	G	11: 74,279,680 (GRCm39)	K687Q	possibly damaging	Het
Rbak	A	T	5: 143,159,169 (GRCm39)	V628E	probably damaging	Het
Rnf148	T	C	6: 23,654,792 (GRCm39)	E68G	possibly damaging	Het
Rnf212	A	T	5: 108,897,308 (GRCm39)	S3T	probably damaging	Het
Rrad	T	G	8: 105,355,259 (GRCm39)	I250L	probably benign	Het
Sall4	T	C	2: 168,597,625 (GRCm39)	H405R	probably damaging	Het
Scn9a	T	C	2: 66,314,022 (GRCm39)	R1888G	probably damaging	Het
Setd5	G	T	6: 113,096,398 (GRCm39)	E535*	probably null	Het
Slc20a1	C	T	2: 129,041,811 (GRCm39)	S58L	probably damaging	Het
Slc31a1	A	G	4: 62,303,841 (GRCm39)		probably benign	Het
Slc38a11	G	T	2: 65,147,209 (GRCm39)	Q423K	probably benign	Het
Snrpd1	A	T	18: 10,626,846 (GRCm39)	T38S	possibly damaging	Het
Taar4	A	G	10: 23,836,780 (GRCm39)	D130G	probably damaging	Het
Tfb2m	C	T	1: 179,358,869 (GRCm39)	R338H	probably benign	Het
Tm2d2	A	G	8: 25,512,742 (GRCm39)	I197V	possibly damaging	Het
Tmem132a	C	T	19: 10,836,355 (GRCm39)	G725D	probably damaging	Het
Tmem67	T	C	4: 12,089,317 (GRCm39)	T38A	probably benign	Het
Tmprss15	A	T	16: 78,765,155 (GRCm39)	S816T	probably benign	Het
Tnfrsf11a	A	G	1: 105,754,717 (GRCm39)	E263G	probably damaging	Het
Tnfrsf17	C	T	16: 11,133,191 (GRCm39)	L90F	probably benign	Het
Tpr	A	G	1: 150,278,024 (GRCm39)	K117E	possibly damaging	Het
Trim43a	C	T	9: 88,466,389 (GRCm39)	Q5*	probably null	Het
Ubn1	A	T	16: 4,890,935 (GRCm39)	D498V	probably damaging	Het
Vipr1	T	A	9: 121,487,115 (GRCm39)	C63S	probably damaging	Het
Vmn1r237	T	A	17: 21,534,932 (GRCm39)	H218Q	possibly damaging	Het
Vmn2r100	C	A	17: 19,742,382 (GRCm39)	P252Q	possibly damaging	Het
Vmn2r95	T	C	17: 18,671,844 (GRCm39)	V527A	probably benign	Het
Vmn2r97	A	T	17: 19,134,734 (GRCm39)	T51S	probably benign	Het
Vwa8	G	A	14: 79,184,629 (GRCm39)	V376I	probably benign	Het
Wdfy4	T	A	14: 32,802,732 (GRCm39)	T1838S	probably benign	Het
Zcwpw1	A	T	5: 137,794,945 (GRCm39)	E47V	probably benign	Het
Zeb2	T	C	2: 44,892,659 (GRCm39)	E130G	possibly damaging	Het
Zfp111	A	G	7: 23,898,568 (GRCm39)	Y348H	probably damaging	Het
Zfp53	T	C	17: 21,729,271 (GRCm39)	S435P	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
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
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'- GGATCTGAGCACAGGCACTGAATG -3'
(R):5'- AACGCAATCTGGAGGTTCTGGAGG -3'

Sequencing Primer
(F):5'- GTCTGCTTTgggggggg -3'
(R):5'- TCTGGAGGGCCGGTATG -3'

Posted On

2013-06-12