Mutagenetix > Incidental Mutation

Incidental Mutation 'R1852:Acsl6'

208234

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

039876-MU

Accession Numbers

Essential gene?

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

Stock #

R1852 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

54194624-54255582 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 54251902 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 683 (I683T)

Ref Sequence

ENSEMBL: ENSMUSP00000104533 (fasta)

Gene Model

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

AlphaFold

Q91WC3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000000145
AA Change: I583T

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000000145
Gene: ENSMUSG00000020333
AA Change: I583T

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: I658T

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

SMART Domains

Protein: ENSMUSP00000072040
Gene: ENSMUSG00000020333
AA Change: I658T

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: I658T

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

SMART Domains

Protein: ENSMUSP00000090795
Gene: ENSMUSG00000020333
AA Change: I658T

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: I658T

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

SMART Domains

Protein: ENSMUSP00000091746
Gene: ENSMUSG00000020333
AA Change: I658T

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: I658T

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

SMART Domains

Protein: ENSMUSP00000098771
Gene: ENSMUSG00000020333
AA Change: I658T

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: I658T

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

SMART Domains

Protein: ENSMUSP00000098773
Gene: ENSMUSG00000020333
AA Change: I658T

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: ENSMUST00000108904
AA Change: I683T

PolyPhen 2 Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000104532
Gene: ENSMUSG00000020333
AA Change: I683T

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: I683T

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

SMART Domains

Protein: ENSMUSP00000104533
Gene: ENSMUSG00000020333
AA Change: I683T

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: ENSMUST00000127731

Predicted Effect

probably benign
Transcript: ENSMUST00000139484

SMART Domains

Protein: ENSMUSP00000120693
Gene: ENSMUSG00000020333

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

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.0%
20x: 91.6%

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: 106 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900092C05Rik	A	G	7: 12,246,629 (GRCm39)		probably null	Het
4930433I11Rik	T	A	7: 40,643,037 (GRCm39)	D326E	probably benign	Het
Abca8a	T	C	11: 109,960,212 (GRCm39)	D676G	probably damaging	Het
Abcb7	T	C	X: 103,349,005 (GRCm39)	M153V	probably benign	Het
Ablim3	G	A	18: 61,982,466 (GRCm39)	H160Y	probably benign	Het
Adgrg5	A	T	8: 95,664,428 (GRCm39)	Y345F	probably damaging	Het
Alg6	T	G	4: 99,634,599 (GRCm39)	F114V	probably benign	Het
Ank2	A	C	3: 126,791,500 (GRCm39)		probably null	Het
Ankrd24	A	T	10: 81,478,775 (GRCm39)		probably benign	Het
Ano8	T	C	8: 71,936,131 (GRCm39)	K222E	probably damaging	Het
Arhgef5	T	C	6: 43,252,119 (GRCm39)	S957P	probably benign	Het
Bltp2	A	G	11: 78,159,299 (GRCm39)	D499G	probably damaging	Het
Bmpr1b	A	T	3: 141,563,163 (GRCm39)		probably null	Het
C3	A	G	17: 57,529,823 (GRCm39)	V2A	probably damaging	Het
Capn1	A	G	19: 6,059,133 (GRCm39)	V276A	possibly damaging	Het
Ccdc57	T	C	11: 120,812,499 (GRCm39)	E85G	probably damaging	Het
Chil3	C	T	3: 106,056,117 (GRCm39)		probably null	Het
Chl1	A	T	6: 103,676,120 (GRCm39)		probably null	Het
Chodl	C	T	16: 78,738,146 (GRCm39)	P38L	probably benign	Het
Clec4a2	G	T	6: 123,116,084 (GRCm39)	E124*	probably null	Het
Cmtr1	T	C	17: 29,921,229 (GRCm39)	V825A	probably benign	Het
Cnksr3	T	C	10: 7,070,539 (GRCm39)	I232V	probably benign	Het
Cntn1	C	T	15: 92,203,021 (GRCm39)	R768C	probably damaging	Het
Col15a1	G	T	4: 47,299,278 (GRCm39)		probably null	Het
Col6a3	T	A	1: 90,735,256 (GRCm39)	I798F	possibly damaging	Het
Cpxcr1	T	A	X: 115,387,758 (GRCm39)	L223*	probably null	Het
Cul1	A	G	6: 47,497,764 (GRCm39)	N615S	probably damaging	Het
Cxcr2	A	G	1: 74,198,438 (GRCm39)	I311V	probably benign	Het
Cyp2c67	C	T	19: 39,605,811 (GRCm39)	G362S	probably benign	Het
D930048N14Rik	T	A	11: 51,544,692 (GRCm39)		probably benign	Het
Ddx49	T	C	8: 70,753,633 (GRCm39)	T79A	probably damaging	Het
Defb46	T	A	8: 19,289,991 (GRCm39)		probably null	Het
Dnah17	T	A	11: 118,012,742 (GRCm39)	I145F	probably damaging	Het
Dock8	A	T	19: 25,104,492 (GRCm39)	I725F	probably benign	Het
Dppa4	G	A	16: 48,108,247 (GRCm39)	A11T	probably damaging	Het
Enam	T	A	5: 88,652,324 (GRCm39)	S1278T	possibly damaging	Het
Fndc3a	A	G	14: 72,794,283 (GRCm39)	V829A	probably damaging	Het
Gatb	T	G	3: 85,526,184 (GRCm39)	L354R	probably damaging	Het
Gm10787	A	T	10: 76,857,711 (GRCm39)		noncoding transcript	Het
Gsap	T	A	5: 21,495,543 (GRCm39)		probably null	Het
Gtf2ird1	T	C	5: 134,411,434 (GRCm39)		probably null	Het
Has3	A	T	8: 107,600,711 (GRCm39)	I58F	probably damaging	Het
Haus5	A	T	7: 30,357,926 (GRCm39)		probably null	Het
Hip1r	T	C	5: 124,129,568 (GRCm39)	V169A	probably benign	Het
Hnf1a	T	A	5: 115,108,770 (GRCm39)	D45V	probably damaging	Het
Il20ra	T	A	10: 19,618,767 (GRCm39)	Y72N	probably damaging	Het
Ipo11	A	T	13: 106,948,765 (GRCm39)	V914E	possibly damaging	Het
Itpr1	T	C	6: 108,363,667 (GRCm39)	L763P	probably damaging	Het
Katnal2	C	A	18: 77,103,719 (GRCm39)	R104L	probably benign	Het
Kcng4	G	T	8: 120,352,947 (GRCm39)	P321Q	probably benign	Het
Larp4b	T	C	13: 9,187,339 (GRCm39)		probably null	Het
Lars1	T	C	18: 42,345,673 (GRCm39)	N1001S	probably benign	Het
Lhcgr	T	A	17: 89,072,604 (GRCm39)	I148F	probably damaging	Het
Lsm10	T	A	4: 125,991,756 (GRCm39)	S37R	possibly damaging	Het
Mfsd13a	A	G	19: 46,360,619 (GRCm39)		probably null	Het
Mipep	T	A	14: 61,080,689 (GRCm39)	C560*	probably null	Het
Mme	G	A	3: 63,235,467 (GRCm39)	D172N	probably benign	Het
Mme	A	G	3: 63,235,404 (GRCm39)	S97G	probably benign	Het
Mtrex	A	T	13: 113,009,461 (GRCm39)	H979Q	probably benign	Het
Mx1	A	T	16: 97,249,403 (GRCm39)	L608Q	probably damaging	Het
Myt1l	T	C	12: 29,901,660 (GRCm39)	M208T	probably benign	Het
Neb	T	C	2: 52,118,554 (GRCm39)	I3987V	probably damaging	Het
Nelfcd	A	G	2: 174,265,771 (GRCm39)		probably null	Het
Neto1	T	C	18: 86,414,009 (GRCm39)	M1T	probably null	Het
Nom1	T	C	5: 29,651,876 (GRCm39)	F738S	possibly damaging	Het
Or10v1	C	A	19: 11,874,249 (GRCm39)	P288H	probably damaging	Het
Or4f61	C	A	2: 111,922,192 (GRCm39)	V285L	probably benign	Het
Or51h5	C	T	7: 102,577,648 (GRCm39)	S271L	probably damaging	Het
Or5b123	C	T	19: 13,596,967 (GRCm39)	S147F	probably damaging	Het
Or5w14	T	C	2: 87,541,317 (GRCm39)		probably null	Het
Or6c203	T	C	10: 129,010,197 (GRCm39)	K231R	probably benign	Het
Or6f2	T	A	7: 139,756,474 (GRCm39)	L147*	probably null	Het
Or9m1b	T	G	2: 87,836,865 (GRCm39)	I86L	probably damaging	Het
Pak1ip1	A	G	13: 41,164,708 (GRCm39)	T264A	possibly damaging	Het
Palb2	G	T	7: 121,713,537 (GRCm39)	D915E	possibly damaging	Het
Pank4	T	C	4: 155,060,816 (GRCm39)	L491P	probably damaging	Het
Paqr7	T	C	4: 134,234,980 (GRCm39)	V279A	probably benign	Het
Pcif1	G	A	2: 164,730,386 (GRCm39)	R373Q	probably damaging	Het
Pdgfa	T	A	5: 138,964,927 (GRCm39)	N185I	probably benign	Het
Plcd4	T	C	1: 74,588,520 (GRCm39)	V123A	possibly damaging	Het
Pramel26	T	C	4: 143,539,396 (GRCm39)	I32M	probably benign	Het
Prune2	A	G	19: 17,176,503 (GRCm39)	I154V	probably damaging	Het
Rac3	T	G	11: 120,614,320 (GRCm39)	L148R	possibly damaging	Het
Rapgef6	T	A	11: 54,533,637 (GRCm39)	D362E	probably benign	Het
Rbl1	A	G	2: 157,016,823 (GRCm39)	I592T	probably benign	Het
Rbl2	A	C	8: 91,822,191 (GRCm39)	D408A	possibly damaging	Het
Retreg2	A	G	1: 75,123,319 (GRCm39)	K416E	probably benign	Het
Rorb	A	T	19: 18,939,447 (GRCm39)	L234H	probably damaging	Het
Rpp40	T	G	13: 36,080,897 (GRCm39)	D279A	probably benign	Het
Siglec1	C	A	2: 130,923,420 (GRCm39)	V442L	probably damaging	Het
Sik3	C	G	9: 46,132,387 (GRCm39)	H1276Q	probably benign	Het
Slc25a34	G	A	4: 141,349,579 (GRCm39)	T192I	probably benign	Het
Sp140l1	G	A	1: 85,062,852 (GRCm39)		probably benign	Het
Sptbn5	T	C	2: 119,902,125 (GRCm39)	I126M	possibly damaging	Het
Strada	A	G	11: 106,062,047 (GRCm39)	V94A	possibly damaging	Het
Stxbp5	C	A	10: 9,688,042 (GRCm39)	V420F	possibly damaging	Het
Tgm1	T	C	14: 55,942,398 (GRCm39)	Y651C	probably damaging	Het
Tmem200c	T	A	17: 69,147,612 (GRCm39)	V65E	probably damaging	Het
Tmem74	A	T	15: 43,730,559 (GRCm39)	D161E	probably benign	Het
Trgc3	A	T	13: 19,445,261 (GRCm39)	M70L	probably damaging	Het
Vcan	T	G	13: 89,853,511 (GRCm39)	E483A	probably damaging	Het
Vmn2r124	A	G	17: 18,283,436 (GRCm39)	T377A	probably benign	Het
Vmn2r3	A	C	3: 64,166,815 (GRCm39)	I772S	probably damaging	Het
Wdfy3	A	G	5: 102,063,242 (GRCm39)	V1342A	probably benign	Het
Zfp507	T	C	7: 35,487,176 (GRCm39)	H764R	probably damaging	Het
Znrf3	A	G	11: 5,237,455 (GRCm39)	I218T	possibly 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
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'- GGTTCCAGCCATATCAAATAAGCTG -3'
(R):5'- CACTTTGAGCTGTGGCATTCTG -3'

Sequencing Primer
(F):5'- GCCATATCAAATAAGCTGAAATGTG -3'
(R):5'- AGCTGTGGCATTCTGATTCC -3'

Posted On

2014-06-23