Mutagenetix > Incidental Mutation

Incidental Mutation 'R1697:Acsl6'

192342

Institutional Source

Beutler Lab

Gene Symbol

Acsl6

Ensembl Gene

ENSMUSG00000020333

Gene Name

acyl-CoA synthetase long-chain family member 6

Synonyms

Lacsl, Facl6, A330035H04Rik

MMRRC Submission

039730-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.451) question?

Stock #

R1697 (G1)

Quality Score

160

Status

Validated

Chromosome

Chromosomal Location

54303798-54364756 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 54329966 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 244 (T244K)

Ref Sequence

ENSEMBL: ENSMUSP00000119714 (fasta)

Gene Model

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

AlphaFold

Q91WC3

Predicted Effect

probably damaging
Transcript: ENSMUST00000000145
AA Change: T244K

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

SMART Domains

Protein: ENSMUSP00000000145
Gene: ENSMUSG00000020333
AA Change: T244K

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: T279K

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

SMART Domains

Protein: ENSMUSP00000069844
Gene: ENSMUSG00000020333
AA Change: T279K

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: T279K

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

SMART Domains

Protein: ENSMUSP00000072040
Gene: ENSMUSG00000020333
AA Change: T279K

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: T279K

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

SMART Domains

Protein: ENSMUSP00000090795
Gene: ENSMUSG00000020333
AA Change: T279K

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: T279K

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

SMART Domains

Protein: ENSMUSP00000091746
Gene: ENSMUSG00000020333
AA Change: T279K

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: T279K

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

SMART Domains

Protein: ENSMUSP00000098771
Gene: ENSMUSG00000020333
AA Change: T279K

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: T279K

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

SMART Domains

Protein: ENSMUSP00000098773
Gene: ENSMUSG00000020333
AA Change: T279K

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: ENSMUST00000108899
AA Change: T279K

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

SMART Domains

Protein: ENSMUSP00000104527
Gene: ENSMUSG00000020333
AA Change: T279K

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: ENSMUST00000108904
AA Change: T304K

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

SMART Domains

Protein: ENSMUSP00000104532
Gene: ENSMUSG00000020333
AA Change: T304K

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: T304K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000104533
Gene: ENSMUSG00000020333
AA Change: T304K

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 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

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 damaging
Transcript: ENSMUST00000156252
AA Change: T244K

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

SMART Domains

Protein: ENSMUSP00000119714
Gene: ENSMUSG00000020333
AA Change: T244K

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

Meta Mutation Damage Score

0.9403

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.3%

Validation Efficiency

99% (67/68)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930486L24Rik	A	T	13: 60,845,114	D250E	probably damaging	Het
4930571K23Rik	A	G	7: 125,369,029		noncoding transcript	Het
9530053A07Rik	T	A	7: 28,154,347	C1579S	probably damaging	Het
Acsl3	T	C	1: 78,705,397		probably benign	Het
Adam26b	T	A	8: 43,520,963	N334I	probably damaging	Het
Adgrl4	C	T	3: 151,517,611	T608M	probably damaging	Het
Aldh2	A	G	5: 121,578,341		probably null	Het
Alms1	A	G	6: 85,622,454	T1890A	possibly damaging	Het
C87977	A	C	4: 144,208,592	I193S	probably damaging	Het
Capn7	C	T	14: 31,360,160	T441M	probably damaging	Het
Cd9	A	T	6: 125,464,404	C85S	probably damaging	Het
Chrm3	T	C	13: 9,878,758	T81A	probably damaging	Het
Ctif	A	G	18: 75,624,305		probably benign	Het
Dcc	T	A	18: 71,370,737	D950V	probably damaging	Het
Eif4g1	T	C	16: 20,679,780	V422A	probably damaging	Het
Enthd1	A	G	15: 80,452,923	S437P	probably damaging	Het
Fads1	A	G	19: 10,194,100		probably benign	Het
Fat3	T	A	9: 15,944,880	I3869L	probably benign	Het
Fbxw5	T	A	2: 25,502,461	V85E	possibly damaging	Het
Fem1b	T	C	9: 62,797,174	D268G	possibly damaging	Het
Focad	T	C	4: 88,408,988	L1772P	probably damaging	Het
Gm9573	A	C	17: 35,620,648		probably benign	Het
Gm9833	G	A	3: 10,089,553	V461I	possibly damaging	Het
Gtf3a	C	A	5: 146,951,913	Q145K	possibly damaging	Het
Hacl1	T	C	14: 31,621,000		probably null	Het
Herc2	T	A	7: 56,153,905	F2229L	probably benign	Het
Hs3st4	A	T	7: 124,396,857	I249L	probably benign	Het
Iqsec1	A	T	6: 90,809,770	Y7*	probably null	Het
Klk1b1	T	A	7: 43,970,326	M103K	probably benign	Het
Krt5	A	G	15: 101,710,585	V287A	probably benign	Het
Lgals12	T	A	19: 7,604,165	Q59L	possibly damaging	Het
Loxl4	A	G	19: 42,604,940	V264A	possibly damaging	Het
Lrmp	A	G	6: 145,137,615		probably benign	Het
Lrp1b	T	C	2: 40,822,683	D3099G	probably damaging	Het
Mical3	G	A	6: 121,007,408	T169I	possibly damaging	Het
Myh7b	A	C	2: 155,620,134	S317R	probably damaging	Het
Nrbp1	T	A	5: 31,245,813	I210N	probably damaging	Het
Nsd1	A	T	13: 55,214,059		probably null	Het
Nupl1	A	T	14: 60,244,670		probably benign	Het
Olfr152	T	A	2: 87,782,585	I15N	possibly damaging	Het
Olfr190	A	G	16: 59,074,907	Y58H	probably damaging	Het
Olfr331	A	T	11: 58,501,676	S293R	probably damaging	Het
Olfr346	C	T	2: 36,688,247	L82F	probably damaging	Het
Olfr769	T	C	10: 129,111,868	T186A	probably benign	Het
Pcnx2	A	G	8: 125,850,348	Y982H	probably damaging	Het
Pias3	T	C	3: 96,702,225	L312P	probably damaging	Het
Plekhm1	G	A	11: 103,376,884	P754S	probably damaging	Het
Ppp2r5c	T	A	12: 110,545,623	L145*	probably null	Het
Ppp2r5c	T	A	12: 110,561,472		probably benign	Het
Proser3	T	C	7: 30,540,021	M553V	probably benign	Het
Shf	G	A	2: 122,368,682	P51S	probably damaging	Het
Smurf2	A	T	11: 106,824,688	D664E	possibly damaging	Het
Spag9	G	A	11: 93,996,565	A99T	probably benign	Het
Stim1	T	G	7: 102,354,506	C49G	probably damaging	Het
Stk32c	T	C	7: 139,121,824	I238V	probably benign	Het
Tenm2	C	T	11: 36,063,177	G1236R	possibly damaging	Het
Tfb2m	T	A	1: 179,544,899	E133V	probably null	Het
Tmem209	A	T	6: 30,497,868	C143S	probably benign	Het
Tnr	T	G	1: 159,852,030	N191K	probably benign	Het
Vars	C	T	17: 34,998,222	A419T	probably benign	Het
Vmn2r111	T	C	17: 22,548,060	S819G	probably benign	Het
Wls	T	C	3: 159,897,358	V136A	probably benign	Het
Ybx2	C	T	11: 69,940,061	S217L	probably benign	Het
Zfp82	T	C	7: 30,057,354	D37G	probably benign	Het

Other mutations in Acsl6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00964:Acsl6	APN	11	54325646	missense	probably damaging	1.00
IGL01374:Acsl6	APN	11	54338419	missense	probably damaging	1.00
IGL01455:Acsl6	APN	11	54323305	missense	possibly damaging	0.93
IGL01607:Acsl6	APN	11	54352997	missense	possibly damaging	0.94
IGL01731:Acsl6	APN	11	54350559	missense	probably benign	0.04
IGL01775:Acsl6	APN	11	54346000	splice site	probably benign
IGL02487:Acsl6	APN	11	54336943	missense	possibly damaging	0.76
IGL02716:Acsl6	APN	11	54327276	missense	probably benign	0.02
IGL02893:Acsl6	APN	11	54345899	missense	probably damaging	1.00
R0514:Acsl6	UTSW	11	54350580	missense	probably damaging	1.00
R0739:Acsl6	UTSW	11	54337135	missense	probably damaging	1.00
R1593:Acsl6	UTSW	11	54323308	missense	probably damaging	1.00
R1611:Acsl6	UTSW	11	54325564	missense	possibly damaging	0.93
R1626:Acsl6	UTSW	11	54352046	missense	probably damaging	1.00
R1633:Acsl6	UTSW	11	54328398	splice site	probably benign
R1852:Acsl6	UTSW	11	54361076	missense	probably damaging	1.00
R1923:Acsl6	UTSW	11	54325591	missense	probably damaging	1.00
R2081:Acsl6	UTSW	11	54320259	missense	possibly damaging	0.76
R2144:Acsl6	UTSW	11	54341778	missense	probably damaging	1.00
R2167:Acsl6	UTSW	11	54327157	missense	probably benign	0.03
R2205:Acsl6	UTSW	11	54324007	missense	probably damaging	1.00
R2357:Acsl6	UTSW	11	54327280	missense	probably damaging	0.99
R4288:Acsl6	UTSW	11	54337086	missense	probably benign	0.19
R4450:Acsl6	UTSW	11	54328403	missense	probably damaging	1.00
R4783:Acsl6	UTSW	11	54336993	missense	probably damaging	1.00
R5115:Acsl6	UTSW	11	54340498	splice site	probably null
R5233:Acsl6	UTSW	11	54325606	missense	possibly damaging	0.69
R5416:Acsl6	UTSW	11	54337171	missense	probably benign	0.00
R5482:Acsl6	UTSW	11	54327138	missense	probably damaging	1.00
R5633:Acsl6	UTSW	11	54337189	missense	probably benign
R5749:Acsl6	UTSW	11	54324055	critical splice donor site	probably null
R6139:Acsl6	UTSW	11	54340542	missense	probably damaging	1.00
R6270:Acsl6	UTSW	11	54352107	missense	probably benign	0.45
R6337:Acsl6	UTSW	11	54340542	missense	probably damaging	1.00
R6571:Acsl6	UTSW	11	54325564	missense	possibly damaging	0.85
R6736:Acsl6	UTSW	11	54325166	missense	probably damaging	1.00
R6918:Acsl6	UTSW	11	54341756	splice site	probably null
R6919:Acsl6	UTSW	11	54341756	splice site	probably null
R7846:Acsl6	UTSW	11	54361075	missense	probably damaging	0.98
R7910:Acsl6	UTSW	11	54345971	nonsense	probably null
R8330:Acsl6	UTSW	11	54345208	missense	probably benign	0.22
R8532:Acsl6	UTSW	11	54327175	missense	probably damaging	1.00
R8535:Acsl6	UTSW	11	54338502	missense	probably damaging	1.00
R8884:Acsl6	UTSW	11	54345902	missense	probably damaging	1.00
R9036:Acsl6	UTSW	11	54337014	critical splice donor site	probably null
R9052:Acsl6	UTSW	11	54341789	missense	possibly damaging	0.78
R9455:Acsl6	UTSW	11	54319926	unclassified	probably benign
R9514:Acsl6	UTSW	11	54335054	missense	probably benign	0.00
R9530:Acsl6	UTSW	11	54329957	missense	probably damaging	1.00
R9603:Acsl6	UTSW	11	54335085	missense	probably damaging	1.00
Z1177:Acsl6	UTSW	11	54320172	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GCACACAGAAGTGTGTAACATGCC -3'
(R):5'- GCACTAAGCACAGCCATTTATGCTC -3'

Sequencing Primer
(F):5'- GTGTGTAACATGCCCAACACATC -3'
(R):5'- TCCTGGTCTCTGACACAAAGG -3'

Posted On

2014-05-14