Mutagenetix > Incidental Mutation

Incidental Mutation 'R0557:Slc27a3'

45605

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

038749-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

R0557 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

90292546-90297245 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 90294163 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 462 (L462P)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000029541
AA Change: L497P

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

SMART Domains

Protein: ENSMUSP00000029541
Gene: ENSMUSG00000027932
AA Change: L497P

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

probably damaging
Transcript: ENSMUST00000132041
AA Change: L462P

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

SMART Domains

Protein: ENSMUSP00000122599
Gene: ENSMUSG00000027932
AA Change: L462P

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.3%

Validation Efficiency

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	G	A	10: 78,903,519 (GRCm39)	H266Y	probably damaging	Het
Abi3bp	C	T	16: 56,488,750 (GRCm39)	R1294C	probably damaging	Het
Acot3	T	C	12: 84,105,630 (GRCm39)	Y366H	probably damaging	Het
Ago1	A	G	4: 126,353,817 (GRCm39)	V254A	probably benign	Het
Ahnak	T	A	19: 8,979,308 (GRCm39)	D197E	probably benign	Het
Aldh1b1	A	T	4: 45,802,647 (GRCm39)	T62S	probably benign	Het
Alox12e	T	C	11: 70,212,274 (GRCm39)	R135G	possibly damaging	Het
Amn1	T	C	6: 149,072,503 (GRCm39)	Y78C	possibly damaging	Het
Ankmy2	G	A	12: 36,237,765 (GRCm39)	S288N	probably benign	Het
Ano3	A	T	2: 110,693,297 (GRCm39)		probably null	Het
Arfgap3	T	C	15: 83,187,386 (GRCm39)	D491G	probably damaging	Het
Arhgap15	T	C	2: 44,006,629 (GRCm39)	S249P	possibly damaging	Het
Atp9b	A	G	18: 80,809,137 (GRCm39)	V211A	probably damaging	Het
Cabin1	A	G	10: 75,562,751 (GRCm39)	Y12H	probably damaging	Het
Cdkn2aip	T	C	8: 48,165,977 (GRCm39)	T110A	probably damaging	Het
Cemip2	C	T	19: 21,789,267 (GRCm39)	A567V	probably benign	Het
Chchd6	A	G	6: 89,551,569 (GRCm39)	S31P	probably damaging	Het
Chrna3	A	G	9: 54,923,149 (GRCm39)	Y220H	probably damaging	Het
Ctu1	A	G	7: 43,326,583 (GRCm39)	D414G	unknown	Het
Cxxc1	C	T	18: 74,351,845 (GRCm39)	R241W	possibly damaging	Het
Cyp3a16	A	G	5: 145,406,398 (GRCm39)	I18T	unknown	Het
Dip2c	A	T	13: 9,603,495 (GRCm39)	I405F	possibly damaging	Het
Disp3	A	T	4: 148,325,861 (GRCm39)	M1299K	possibly damaging	Het
Dnah9	T	G	11: 65,975,492 (GRCm39)	H1519P	probably damaging	Het
Ehd3	C	A	17: 74,136,928 (GRCm39)	Q366K	probably benign	Het
Exosc3	A	T	4: 45,316,957 (GRCm39)	M232K	probably damaging	Het
Fancm	T	C	12: 65,165,216 (GRCm39)		probably null	Het
Fgfr2	A	G	7: 129,820,811 (GRCm39)	V241A	probably damaging	Het
Gdf2	C	T	14: 33,663,178 (GRCm39)	P24L	probably damaging	Het
Hars2	T	C	18: 36,924,130 (GRCm39)	I489T	possibly damaging	Het
Ice1	T	C	13: 70,749,310 (GRCm39)	I1945V	probably benign	Het
Il33	A	C	19: 29,932,036 (GRCm39)	N143T	probably damaging	Het
Ilvbl	G	A	10: 78,419,321 (GRCm39)	W313*	probably null	Het
Insyn2a	A	G	7: 134,520,434 (GRCm39)	L32P	probably damaging	Het
Isca1	G	T	13: 59,904,788 (GRCm39)	Q91K	possibly damaging	Het
Kcnh5	T	A	12: 75,161,323 (GRCm39)	Y195F	probably damaging	Het
Lama4	T	G	10: 38,964,393 (GRCm39)	I1355S	probably benign	Het
Lonrf1	T	C	8: 36,697,574 (GRCm39)	D470G	probably benign	Het
Mak	A	G	13: 41,193,135 (GRCm39)	Y446H	probably benign	Het
Mki67	C	T	7: 135,300,990 (GRCm39)	S1348N	possibly damaging	Het
Mpzl3	A	G	9: 44,977,806 (GRCm39)	Y138C	probably damaging	Het
Myh8	T	C	11: 67,192,624 (GRCm39)	L1501P	possibly damaging	Het
Naa35	A	G	13: 59,775,778 (GRCm39)	E552G	probably damaging	Het
Ncor2	A	T	5: 125,183,369 (GRCm39)	L200*	probably null	Het
Nrm	T	C	17: 36,175,524 (GRCm39)	V210A	probably damaging	Het
Nt5e	T	A	9: 88,248,519 (GRCm39)	N405K	probably damaging	Het
Or1j4	T	A	2: 36,740,760 (GRCm39)	I234N	possibly damaging	Het
Or1o11	T	A	17: 37,756,712 (GRCm39)	I100N	probably damaging	Het
Orc2	T	C	1: 58,508,846 (GRCm39)	S434G	probably damaging	Het
Plcb4	G	A	2: 135,796,269 (GRCm39)	V388I	probably damaging	Het
Ppm1l	A	G	3: 69,405,234 (GRCm39)	D177G	probably benign	Het
Prl8a2	A	T	13: 27,536,875 (GRCm39)	R165*	probably null	Het
Ptbp3	G	A	4: 59,517,684 (GRCm39)	R66*	probably null	Het
Pten	A	G	19: 32,795,290 (GRCm39)	T286A	probably benign	Het
Rac2	C	T	15: 78,449,174 (GRCm39)	V113M	probably damaging	Het
Rai1	C	T	11: 60,081,321 (GRCm39)	T1795I	probably benign	Het
Ros1	T	G	10: 51,961,359 (GRCm39)	K1792Q	possibly damaging	Het
Sema6a	A	G	18: 47,382,567 (GRCm39)	V660A	probably benign	Het
Slc22a23	C	T	13: 34,528,366 (GRCm39)	G139S	possibly damaging	Het
Slc26a5	A	G	5: 22,024,762 (GRCm39)	S441P	probably damaging	Het
Spag5	T	A	11: 78,205,037 (GRCm39)	S607R	probably damaging	Het
Spata18	A	T	5: 73,809,013 (GRCm39)	N29Y	probably damaging	Het
Spata20	C	T	11: 94,376,048 (GRCm39)	R22H	probably benign	Het
Spsb2	A	C	6: 124,787,355 (GRCm39)	Y263S	probably damaging	Het
Sptbn4	C	A	7: 27,107,753 (GRCm39)	E885*	probably null	Het
Syne2	T	C	12: 75,976,075 (GRCm39)	I1175T	probably benign	Het
Tmem209	A	C	6: 30,501,913 (GRCm39)	H253Q	probably damaging	Het
Trip12	A	T	1: 84,702,468 (GRCm39)	D788E	probably damaging	Het
Usp34	T	C	11: 23,353,848 (GRCm39)	S1509P	probably damaging	Het
Utp20	A	T	10: 88,584,173 (GRCm39)	D2661E	probably damaging	Het
Vars1	C	A	17: 35,223,960 (GRCm39)	P264Q	possibly damaging	Het
Vmn2r66	T	G	7: 84,643,972 (GRCm39)	S813R	probably damaging	Het
Wipf2	C	A	11: 98,782,915 (GRCm39)	Q114K	possibly damaging	Het
Wnt5b	G	T	6: 119,410,779 (GRCm39)	H220Q	probably damaging	Het
Xirp2	A	G	2: 67,346,695 (GRCm39)	T2979A	probably benign	Het
Zfyve9	A	G	4: 108,531,708 (GRCm39)	V408A	probably damaging	Het
Zzef1	T	C	11: 72,808,556 (GRCm39)	S2744P	probably damaging	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
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
R4672:Slc27a3	UTSW	3	90,294,953 (GRCm39)	missense	possibly damaging	0.90
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'- GGCACCGTGACTCCATAGATGTTC -3'
(R):5'- AGACAAGGTTAAACCTGGCACCTG -3'

Sequencing Primer
(F):5'- GATGTTCACCTCCTGAAGGAAGTC -3'
(R):5'- CCTGGCACCTGAGGTGG -3'

Posted On

2013-06-11