Mutagenetix > Incidental Mutation

Incidental Mutation 'R4672:Slc27a3'

348505

Institutional Source

Beutler Lab

Gene Symbol

Slc27a3

Ensembl Gene

ENSMUSG00000027932

Gene Name

solute carrier family 27 (fatty acid transporter), member 3

Synonyms

fatty acid transport protein 3, Acsvl3, FATP3

MMRRC Submission

041927-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.093) question?

Stock #

R4672 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

90292546-90297245 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 90294953 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 368 (N368S)

Ref Sequence

ENSEMBL: ENSMUSP00000029541 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029541] [ENSMUST00000029542] [ENSMUST00000071488] [ENSMUST00000196530]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029541
AA Change: N368S

PolyPhen 2 Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000029541
Gene: ENSMUSG00000027932
AA Change: N368S

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
low complexity region	38	56	N/A	INTRINSIC
Pfam:AMP-binding	138	535	9.2e-62	PFAM
Pfam:AMP-binding_C	543	619	9.6e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000029542

SMART Domains

Protein: ENSMUSP00000029542
Gene: ENSMUSG00000027933

Domain	Start	End	E-Value	Type
low complexity region	11	33	N/A	INTRINSIC
Pfam:DUF2356	269	493	6e-110	PFAM
low complexity region	557	568	N/A	INTRINSIC
low complexity region	632	647	N/A	INTRINSIC
low complexity region	666	678	N/A	INTRINSIC
coiled coil region	913	940	N/A	INTRINSIC
low complexity region	1006	1019	N/A	INTRINSIC
low complexity region	1021	1031	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000071488

SMART Domains

Protein: ENSMUSP00000071422
Gene: ENSMUSG00000027933

Domain	Start	End	E-Value	Type
low complexity region	11	33	N/A	INTRINSIC
Pfam:DUF2356	269	493	6e-110	PFAM
low complexity region	557	568	N/A	INTRINSIC
low complexity region	632	647	N/A	INTRINSIC
low complexity region	666	678	N/A	INTRINSIC
coiled coil region	913	940	N/A	INTRINSIC
low complexity region	1006	1019	N/A	INTRINSIC
low complexity region	1021	1031	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127064

Predicted Effect

unknown
Transcript: ENSMUST00000132041
AA Change: N333S

SMART Domains

Protein: ENSMUSP00000122599
Gene: ENSMUSG00000027932
AA Change: N333S

Domain	Start	End	E-Value	Type
low complexity region	40	64	N/A	INTRINSIC
low complexity region	68	89	N/A	INTRINSIC
low complexity region	91	106	N/A	INTRINSIC
Pfam:AMP-binding	147	501	5.3e-50	PFAM
Pfam:AMP-binding_C	509	585	2.9e-8	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144572

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153978

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199992

Predicted Effect

probably benign
Transcript: ENSMUST00000196530

SMART Domains

Protein: ENSMUSP00000143196
Gene: ENSMUSG00000027933

Domain	Start	End	E-Value	Type
low complexity region	11	33	N/A	INTRINSIC
Pfam:DUF2356	268	497	5.7e-114	PFAM
low complexity region	557	568	N/A	INTRINSIC
low complexity region	632	647	N/A	INTRINSIC
low complexity region	666	678	N/A	INTRINSIC
coiled coil region	913	940	N/A	INTRINSIC
low complexity region	1006	1018	N/A	INTRINSIC

Meta Mutation Damage Score

0.0986

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.8%

Validation Efficiency

98% (113/115)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to a family of integral membrane proteins and encodes a protein that is involved in lipid metabolism. The increased expression of this gene in human neural stem cells derived from induced pluripotent stem cells suggests that it plays an important role in early brain development. Naturally occurring mutations in this gene are associated with autism spectrum disorders. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]

Allele List at MGI

Other mutations in this stock

Total: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	G	A	11: 109,962,702 (GRCm39)	L483F	possibly damaging	Het
Abca8b	A	G	11: 109,827,274 (GRCm39)	F1507L	possibly damaging	Het
Adamdec1	C	A	14: 68,815,353 (GRCm39)	E104*	probably null	Het
Adamts16	G	A	13: 70,927,637 (GRCm39)		probably benign	Het
Alppl2	T	C	1: 87,017,187 (GRCm39)		probably benign	Het
Aplnr	A	G	2: 84,967,524 (GRCm39)	Y183C	probably damaging	Het
Atm	G	A	9: 53,433,501 (GRCm39)	R250W	probably damaging	Het
B4galt7	T	C	13: 55,757,132 (GRCm39)	L275P	probably damaging	Het
Bltp1	A	G	3: 36,944,139 (GRCm39)	*330W	probably null	Het
Ccdc178	G	A	18: 22,283,501 (GRCm39)	Q10*	probably null	Het
Ccr9	T	C	9: 123,608,752 (GRCm39)	Y145H	probably damaging	Het
Cd209f	C	T	8: 4,153,685 (GRCm39)	G188D	probably damaging	Het
Cep70	T	A	9: 99,136,365 (GRCm39)	S23T	possibly damaging	Het
Cpped1	C	A	16: 11,623,238 (GRCm39)	E294*	probably null	Het
Crisp1	T	A	17: 40,605,404 (GRCm39)		probably null	Het
Disp1	T	C	1: 182,880,215 (GRCm39)		probably null	Het
Dlg2	A	T	7: 91,935,743 (GRCm39)	M624L	probably damaging	Het
Elf2	A	G	3: 51,163,855 (GRCm39)	V558A	probably damaging	Het
Eno2	T	C	6: 124,743,109 (GRCm39)	D209G	probably damaging	Het
Fam187b	G	A	7: 30,676,968 (GRCm39)	R159H	probably damaging	Het
Fh1	G	A	1: 175,431,617 (GRCm39)	A423V	probably benign	Het
Frg1	C	T	8: 41,853,846 (GRCm39)	D164N	probably benign	Het
Fsbp	T	G	4: 11,579,841 (GRCm39)	N36K	probably benign	Het
Gcn1	A	G	5: 115,744,579 (GRCm39)	T1592A	probably damaging	Het
Gimap3	A	G	6: 48,742,687 (GRCm39)	I81T	probably damaging	Het
Gjb6	C	T	14: 57,362,235 (GRCm39)	V9I	probably benign	Het
Gkap1	T	C	13: 58,411,770 (GRCm39)	S68G	possibly damaging	Het
Gpatch8	A	T	11: 102,369,784 (GRCm39)	S1251R	probably damaging	Het
Gria4	A	G	9: 4,664,981 (GRCm39)	F92L	possibly damaging	Het
H2-Q1	C	A	17: 35,539,906 (GRCm39)	D58E	probably damaging	Het
Hs1bp3	G	T	12: 8,391,983 (GRCm39)	G362*	probably null	Het
Igfn1	T	A	1: 135,893,107 (GRCm39)	H2114L	possibly damaging	Het
Igkv12-98	A	G	6: 68,547,940 (GRCm39)	Q22R	probably benign	Het
Ing3	A	G	6: 21,965,729 (GRCm39)		probably null	Het
Insr	C	T	8: 3,217,501 (GRCm39)		probably null	Het
Kdm3b	T	C	18: 34,941,630 (GRCm39)	S374P	probably benign	Het
Kif14	A	C	1: 136,449,016 (GRCm39)	Q1472P	probably benign	Het
Kif14	G	T	1: 136,449,017 (GRCm39)	Q1472H	probably benign	Het
Knstrn	A	G	2: 118,664,512 (GRCm39)	E202G	probably damaging	Het
Knstrn	G	T	2: 118,664,513 (GRCm39)	E202D	possibly damaging	Het
Krt12	A	G	11: 99,309,509 (GRCm39)		probably benign	Het
Lgi3	A	T	14: 70,771,897 (GRCm39)	I195F	possibly damaging	Het
Lima1	T	C	15: 99,741,590 (GRCm39)	N29D	probably damaging	Het
Liph	T	C	16: 21,802,806 (GRCm39)	I88V	probably benign	Het
Lrrk1	A	G	7: 65,929,120 (GRCm39)	S86P	probably benign	Het
Lsamp	A	G	16: 41,775,697 (GRCm39)	R166G	probably damaging	Het
Mamdc2	T	A	19: 23,328,148 (GRCm39)	N407Y	probably damaging	Het
Mast3	CATA	CA	8: 71,237,441 (GRCm39)		probably null	Het
Megf6	T	A	4: 154,333,909 (GRCm39)	N212K	probably damaging	Het
Met	A	C	6: 17,571,803 (GRCm39)	D1374A	probably benign	Het
Mrc2	A	G	11: 105,233,923 (GRCm39)	T902A	probably benign	Het
Mroh3	T	A	1: 136,118,713 (GRCm39)	T535S	probably benign	Het
Muc1	G	T	3: 89,139,384 (GRCm39)	V595L	probably damaging	Het
Myh2	T	A	11: 67,079,303 (GRCm39)	L957Q	probably damaging	Het
Myorg	T	A	4: 41,499,061 (GRCm39)	M190L	probably benign	Het
Ncl	A	T	1: 86,284,324 (GRCm39)	D257E	probably benign	Het
Nipbl	T	A	15: 8,332,468 (GRCm39)	D2263V	probably damaging	Het
Optc	C	A	1: 133,825,555 (GRCm39)	V324L	possibly damaging	Het
Or4k15	A	G	14: 50,364,714 (GRCm39)	N227D	probably benign	Het
Or4k42	A	T	2: 111,319,902 (GRCm39)	N200K	possibly damaging	Het
Or7g35	A	G	9: 19,496,726 (GRCm39)	K298E	possibly damaging	Het
Osbpl9	A	G	4: 108,921,806 (GRCm39)	I604T	possibly damaging	Het
Otog	C	A	7: 45,939,210 (GRCm39)	A2080D	probably damaging	Het
Parp6	G	C	9: 59,547,393 (GRCm39)	R460P	probably damaging	Het
Phactr4	G	T	4: 132,098,017 (GRCm39)	P417Q	probably damaging	Het
Pigt	T	C	2: 164,339,498 (GRCm39)		probably benign	Het
Plekha5	A	G	6: 140,470,655 (GRCm39)	I99V	probably damaging	Het
Plxna3	T	G	X: 73,382,554 (GRCm39)		probably null	Het
Ppp2r1b	G	A	9: 50,779,019 (GRCm39)	M362I	probably damaging	Het
Pramel34	T	A	5: 93,784,182 (GRCm39)	R230S	probably damaging	Het
Rad51	A	G	2: 118,954,327 (GRCm39)	I136V	probably benign	Het
Rad54b	T	A	4: 11,609,449 (GRCm39)	H633Q	probably benign	Het
Rasal2	A	G	1: 157,071,231 (GRCm39)	F41S	probably benign	Het
Reep3	T	A	10: 66,857,629 (GRCm39)	H154L	probably benign	Het
Rp1l1	T	G	14: 64,268,719 (GRCm39)	V1435G	probably damaging	Het
Rps6ka5	C	A	12: 100,620,546 (GRCm39)	K125N	possibly damaging	Het
Rsad1	A	T	11: 94,434,444 (GRCm39)	M330K	probably damaging	Het
Scand1	A	G	2: 156,153,850 (GRCm39)		probably null	Het
Setd6	A	G	8: 96,444,640 (GRCm39)	H111R	probably null	Het
Slc38a2	T	C	15: 96,596,518 (GRCm39)	T32A	probably benign	Het
Smg7	A	G	1: 152,721,164 (GRCm39)	S683P	probably damaging	Het
Smyd2	A	T	1: 189,642,101 (GRCm39)	L62M	probably damaging	Het
Sox5	T	C	6: 143,779,075 (GRCm39)	Y687C	probably damaging	Het
Spaca6	T	A	17: 18,057,005 (GRCm39)	C53*	probably null	Het
Spata31e4	T	C	13: 50,857,208 (GRCm39)	Y949H	probably benign	Het
Spire2	T	C	8: 124,084,850 (GRCm39)	V230A	probably benign	Het
Sptbn2	G	T	19: 4,782,524 (GRCm39)	V487L	probably benign	Het
Stk3	T	A	15: 35,099,603 (GRCm39)	I110L	probably benign	Het
Stox2	T	A	8: 47,645,141 (GRCm39)	Y773F	probably damaging	Het
Tbrg1	C	A	9: 37,562,632 (GRCm39)	A259S	probably damaging	Het
Tnfsf18	C	A	1: 161,331,307 (GRCm39)	D152E	probably benign	Het
Tpr	G	A	1: 150,299,318 (GRCm39)	A1173T	probably benign	Het
Trrap	T	C	5: 144,722,290 (GRCm39)	L271P	probably damaging	Het
Ttn	G	T	2: 76,657,419 (GRCm39)		probably benign	Het
U2surp	A	G	9: 95,375,198 (GRCm39)	S192P	possibly damaging	Het
Ubr4	C	T	4: 139,138,027 (GRCm39)	S1128L	probably damaging	Het
Ucma	G	A	2: 4,981,465 (GRCm39)		probably null	Het
Urb1	A	T	16: 90,569,522 (GRCm39)	D1401E	probably benign	Het
Usp54	A	T	14: 20,631,597 (GRCm39)		probably benign	Het
Vmn1r31	A	G	6: 58,449,056 (GRCm39)	Y270H	probably damaging	Het
Vmn1r90	T	A	7: 14,295,493 (GRCm39)	T202S	probably benign	Het
Vmn2r88	A	G	14: 51,655,612 (GRCm39)	Y616C	probably damaging	Het
Vmn2r95	T	A	17: 18,672,413 (GRCm39)	W717R	probably damaging	Het
Zcchc4	C	A	5: 52,953,947 (GRCm39)	T209K	probably benign	Het
Zfp955b	T	A	17: 33,524,233 (GRCm39)		probably benign	Het

Other mutations in Slc27a3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00232:Slc27a3	APN	3	90,292,748 (GRCm39)	nonsense	probably null
IGL01080:Slc27a3	APN	3	90,292,767 (GRCm39)	missense	probably benign	0.17
IGL01313:Slc27a3	APN	3	90,293,861 (GRCm39)	missense	probably damaging	1.00
IGL01358:Slc27a3	APN	3	90,293,859 (GRCm39)	missense	probably damaging	1.00
IGL02261:Slc27a3	APN	3	90,295,002 (GRCm39)	missense	probably benign
R0557:Slc27a3	UTSW	3	90,294,163 (GRCm39)	missense	probably damaging	1.00
R1922:Slc27a3	UTSW	3	90,293,624 (GRCm39)	missense	probably benign
R2032:Slc27a3	UTSW	3	90,294,704 (GRCm39)	missense	probably damaging	0.99
R3922:Slc27a3	UTSW	3	90,294,392 (GRCm39)	missense	possibly damaging	0.65
R4278:Slc27a3	UTSW	3	90,296,495 (GRCm39)	unclassified	probably benign
R4432:Slc27a3	UTSW	3	90,294,647 (GRCm39)	missense	probably damaging	0.99
R4433:Slc27a3	UTSW	3	90,294,647 (GRCm39)	missense	probably damaging	0.99
R5183:Slc27a3	UTSW	3	90,296,477 (GRCm39)	critical splice donor site	probably null
R5201:Slc27a3	UTSW	3	90,296,526 (GRCm39)	missense	probably benign	0.41
R5328:Slc27a3	UTSW	3	90,294,139 (GRCm39)	missense	probably damaging	1.00
R5405:Slc27a3	UTSW	3	90,294,382 (GRCm39)	missense	probably benign	0.05
R5477:Slc27a3	UTSW	3	90,294,146 (GRCm39)	missense	probably benign
R5743:Slc27a3	UTSW	3	90,294,379 (GRCm39)	missense	probably benign	0.38
R6344:Slc27a3	UTSW	3	90,294,961 (GRCm39)	nonsense	probably null
R6450:Slc27a3	UTSW	3	90,292,777 (GRCm39)	missense	probably damaging	0.97
R6988:Slc27a3	UTSW	3	90,293,597 (GRCm39)	missense	probably benign	0.01
R7204:Slc27a3	UTSW	3	90,297,033 (GRCm39)	missense	probably benign	0.07
R7736:Slc27a3	UTSW	3	90,296,740 (GRCm39)	missense	probably benign	0.22
R8045:Slc27a3	UTSW	3	90,294,449 (GRCm39)	missense	probably damaging	0.99
R8046:Slc27a3	UTSW	3	90,296,974 (GRCm39)	missense	probably damaging	1.00
R9072:Slc27a3	UTSW	3	90,295,768 (GRCm39)	missense	probably damaging	1.00
R9535:Slc27a3	UTSW	3	90,293,618 (GRCm39)	missense	probably damaging	1.00
R9781:Slc27a3	UTSW	3	90,296,591 (GRCm39)	missense
R9795:Slc27a3	UTSW	3	90,296,875 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TATGGTCACACTCTGCCTTG -3'
(R):5'- GCGTCTGTAGTGAGCAATGG -3'

Sequencing Primer
(F):5'- CCTTGCTCTGAGATGGTGAGAAAG -3'
(R):5'- AGCAATGGTGGCTGGAGTC -3'

Posted On

2015-10-08