Mutagenetix > Incidental Mutation

Incidental Mutation 'R6988:Slc27a3'

543064

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

Accession Numbers

Essential gene?

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

Stock #

R6988 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

90292546-90297245 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 90293597 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 596 (N596S)

Ref Sequence

ENSEMBL: ENSMUSP00000029541 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000029541
AA Change: N596S

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000029541
Gene: ENSMUSG00000027932
AA Change: N596S

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

SMART Domains

Protein: ENSMUSP00000122599
Gene: ENSMUSG00000027932
AA Change: N561S

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.2%

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013G24Rik	T	G	4: 137,181,890 (GRCm39)	L15W	probably damaging	Het
4930550C14Rik	G	A	9: 53,323,056 (GRCm39)	V31I	possibly damaging	Het
Aadacl4fm4	A	G	4: 144,412,895 (GRCm39)	F15S	probably benign	Het
Adgre1	C	T	17: 57,715,445 (GRCm39)	S255F	probably benign	Het
Aff4	T	G	11: 53,289,064 (GRCm39)	S404R	probably damaging	Het
Akr1c19	A	T	13: 4,283,757 (GRCm39)		probably benign	Het
Ankrd31	T	A	13: 97,014,757 (GRCm39)	I1342K	probably damaging	Het
Arhgap5	T	A	12: 52,564,908 (GRCm39)	D626E	possibly damaging	Het
Arhgef1	G	A	7: 24,616,348 (GRCm39)	V332I	probably benign	Het
AY358078	A	G	14: 52,063,644 (GRCm39)	E430G	probably damaging	Het
B4gat1	T	A	19: 5,090,462 (GRCm39)	I395N	probably benign	Het
Bub1b	T	A	2: 118,467,311 (GRCm39)	I878N	probably damaging	Het
Ccdc150	C	T	1: 54,394,868 (GRCm39)	Q745*	probably null	Het
Ccl19	A	T	4: 42,754,885 (GRCm39)	I87N	probably damaging	Het
Ces2g	G	C	8: 105,690,540 (GRCm39)	G107A	probably benign	Het
Chpt1	A	G	10: 88,324,268 (GRCm39)	V180A	probably damaging	Het
Col2a1	T	C	15: 97,902,335 (GRCm39)	T14A	unknown	Het
Dnah7a	T	C	1: 53,621,784 (GRCm39)	I1114V	possibly damaging	Het
Dnah7c	T	C	1: 46,705,373 (GRCm39)	I2462T	possibly damaging	Het
Dnah8	T	C	17: 30,862,249 (GRCm39)	F208S	probably damaging	Het
Dnhd1	A	G	7: 105,363,417 (GRCm39)	E3993G	probably damaging	Het
Erv3	C	T	2: 131,697,886 (GRCm39)	D158N	possibly damaging	Het
Exoc6	T	A	19: 37,597,539 (GRCm39)	F647I	probably damaging	Het
Fbrs	G	A	7: 127,078,680 (GRCm39)		probably benign	Het
Fgfr1op2	T	C	6: 146,491,463 (GRCm39)	F109L	probably damaging	Het
Fv1	T	C	4: 147,953,728 (GRCm39)	F98S	possibly damaging	Het
H2-M10.1	T	C	17: 36,636,484 (GRCm39)	K107E	probably benign	Het
Hspg2	A	T	4: 137,256,201 (GRCm39)	Q1436L	probably damaging	Het
Ighv1-74	T	C	12: 115,766,383 (GRCm39)	Y79C	probably damaging	Het
Kcnj1	G	A	9: 32,307,881 (GRCm39)	V102I	probably benign	Het
Mnt	C	A	11: 74,733,635 (GRCm39)		probably benign	Het
Mrpl15	T	C	1: 4,852,883 (GRCm39)	T112A	probably benign	Het
Ncdn	T	C	4: 126,640,982 (GRCm39)	D506G	probably benign	Het
Ogdh	C	T	11: 6,263,806 (GRCm39)	R81*	probably null	Het
Or6c2	T	A	10: 129,362,542 (GRCm39)	S149T	probably benign	Het
Or6c217	G	C	10: 129,738,278 (GRCm39)	F100L	probably damaging	Het
Pole	G	T	5: 110,477,449 (GRCm39)	V1863F	probably damaging	Het
Pramel5	T	C	4: 144,000,577 (GRCm39)		probably benign	Het
Rabep1	A	G	11: 70,825,363 (GRCm39)	K636E	probably damaging	Het
Rasgrf2	T	A	13: 92,033,754 (GRCm39)	Y1151F	probably benign	Het
Rrad	A	G	8: 105,357,268 (GRCm39)	V93A	probably damaging	Het
Sesn3	A	T	9: 14,221,553 (GRCm39)	R118*	probably null	Het
Snx19	C	A	9: 30,340,231 (GRCm39)	D456E	probably damaging	Het
Spata31h1	T	C	10: 82,127,733 (GRCm39)	D1759G	possibly damaging	Het
Supt20	T	C	3: 54,606,018 (GRCm39)	S35P	probably damaging	Het
Syde2	G	T	3: 145,725,564 (GRCm39)	R885L	probably benign	Het
Synm	G	A	7: 67,383,406 (GRCm39)	L1419F	probably damaging	Het
Tekt2	A	G	4: 126,217,236 (GRCm39)	F221L	probably benign	Het
Ticam1	C	T	17: 56,576,900 (GRCm39)	E732K	probably benign	Het
Tmem39b	A	G	4: 129,586,941 (GRCm39)	I90T	possibly damaging	Het
Trgv6	G	T	13: 19,374,814 (GRCm39)	G40W	possibly damaging	Het
Trib2	A	G	12: 15,865,339 (GRCm39)	S79P	probably damaging	Het
Usp32	T	C	11: 84,900,969 (GRCm39)	M1084V	probably benign	Het
Vmn1r181	T	C	7: 23,684,272 (GRCm39)	F246L	probably damaging	Het
Wnt16	A	G	6: 22,288,510 (GRCm39)	D2G	probably damaging	Het
Zfp462	A	G	4: 55,080,716 (GRCm39)	E1357G	probably benign	Het
Zhx3	A	G	2: 160,621,788 (GRCm39)	M793T	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
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
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'- AAGGAGCATGCGCCAATCAG -3'
(R):5'- CTTCCTTCAGGAGGTGAACATCTATG -3'

Sequencing Primer
(F):5'- AATCAGGGGAGCGTCCTTC -3'
(R):5'- AACATCTATGGAGTCACGGTGCC -3'

Posted On

2018-11-28