Mutagenetix > Incidental Mutations

Incidental Mutation 'R3922:Slc27a3'

306973

Institutional Source

Beutler Lab

Gene Symbol

Slc27a3

Ensembl Gene

ENSMUSG00000027932

Gene Name

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

Synonyms

Acsvl3, fatty acid transport protein 3, FATP3

MMRRC Submission

040819-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.109) question?

Stock #

R3922 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

90385239-90389938 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 90387085 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 460 (H460N)

Ref Sequence

ENSEMBL: ENSMUSP00000029541 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029541
AA Change: H460N

PolyPhen 2 Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000029541
Gene: ENSMUSG00000027932
AA Change: H460N

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: H425N

SMART Domains

Protein: ENSMUSP00000122599
Gene: ENSMUSG00000027932
AA Change: H425N

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

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199992

Meta Mutation Damage Score

0.0835

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.0%
20x: 94.0%

Validation Efficiency

100% (44/44)

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	G	T	11: 109,794,154	C172*	probably null	Het
4921504E06Rik	T	A	2: 19,480,560	E432V	probably benign	Het
Ahnak	G	A	19: 9,006,328	D1659N	probably benign	Het
Arfgap2	C	T	2: 91,274,805	R405W	probably damaging	Het
Arhgef28	A	G	13: 97,993,944	L462P	possibly damaging	Het
Arid1b	T	C	17: 5,343,041	V2282A	probably damaging	Het
Cdkl1	G	T	12: 69,756,599	R168S	probably damaging	Het
Cep70	T	A	9: 99,275,579	*117R	probably null	Het
Cnnm1	A	G	19: 43,440,445	M1V	probably null	Het
Cntrl	A	G	2: 35,129,739	E526G	probably damaging	Het
Col1a2	G	A	6: 4,518,822		probably benign	Het
Ddx59	T	A	1: 136,416,744	V51D	probably benign	Het
Dtd2	G	C	12: 52,004,951		probably null	Het
Eea1	T	A	10: 96,036,633	N1068K	probably benign	Het
Egfr	T	A	11: 16,881,495	C555S	probably damaging	Het
Esd	A	T	14: 74,743,227	Q130H	probably benign	Het
Gm38100	T	C	1: 175,921,286	V306A	probably benign	Het
Gpr89	A	T	3: 96,890,899	I147N	probably damaging	Het
H2-M10.1	T	A	17: 36,325,685	I76L	probably benign	Het
Lgi4	A	T	7: 31,067,448	D300V	probably benign	Het
Lrp1b	C	A	2: 40,677,581	V276L	unknown	Het
Lrp2	T	C	2: 69,506,376	K1351E	probably benign	Het
Mroh8	T	C	2: 157,222,811	I782V	probably benign	Het
Msrb1	T	C	17: 24,740,083	S70P	probably damaging	Het
Nek10	T	C	14: 14,861,585	M547T	possibly damaging	Het
Olfr1501	T	C	19: 13,838,766	T136A	probably damaging	Het
Olfr615	T	C	7: 103,560,705	V76A	probably benign	Het
Olfr769	C	A	10: 129,111,613	V271F	possibly damaging	Het
P4htm	T	C	9: 108,582,895	N227D	probably benign	Het
Plekhm2	T	C	4: 141,629,532	T787A	probably benign	Het
Pramel5	A	G	4: 144,273,052	L155P	probably damaging	Het
Sbno1	T	C	5: 124,381,930	Y1122C	probably damaging	Het
Scn9a	T	A	2: 66,526,873	D1028V	possibly damaging	Het
Sft2d1	G	T	17: 8,318,882	L34F	possibly damaging	Het
Slc19a3	A	T	1: 83,022,957	F113Y	probably damaging	Het
Slc35g2	A	T	9: 100,552,727	I297N	probably benign	Het
Ssh1	T	G	5: 113,942,708	Q865P	possibly damaging	Het
Trp63	A	G	16: 25,889,009	D583G	probably damaging	Het
Usp28	T	C	9: 49,030,923		probably null	Het
Wdr43	A	G	17: 71,638,301		probably benign	Het
Zfhx4	A	G	3: 5,400,647	Y1955C	probably damaging	Het
Zfp108	G	A	7: 24,261,348	G455R	probably damaging	Het
Zfp353-ps	A	T	8: 42,083,012		noncoding transcript	Het

Other mutations in Slc27a3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00232:Slc27a3	APN	3	90385441	nonsense	probably null
IGL01080:Slc27a3	APN	3	90385460	missense	probably benign	0.17
IGL01313:Slc27a3	APN	3	90386554	missense	probably damaging	1.00
IGL01358:Slc27a3	APN	3	90386552	missense	probably damaging	1.00
IGL02261:Slc27a3	APN	3	90387695	missense	probably benign
R0557:Slc27a3	UTSW	3	90386856	missense	probably damaging	1.00
R1922:Slc27a3	UTSW	3	90386317	missense	probably benign
R2032:Slc27a3	UTSW	3	90387397	missense	probably damaging	0.99
R4278:Slc27a3	UTSW	3	90389188	unclassified	probably benign
R4432:Slc27a3	UTSW	3	90387340	missense	probably damaging	0.99
R4433:Slc27a3	UTSW	3	90387340	missense	probably damaging	0.99
R4672:Slc27a3	UTSW	3	90387646	missense	possibly damaging	0.90
R5183:Slc27a3	UTSW	3	90389170	critical splice donor site	probably null
R5201:Slc27a3	UTSW	3	90389219	missense	probably benign	0.41
R5328:Slc27a3	UTSW	3	90386832	missense	probably damaging	1.00
R5405:Slc27a3	UTSW	3	90387075	missense	probably benign	0.05
R5477:Slc27a3	UTSW	3	90386839	missense	probably benign
R5743:Slc27a3	UTSW	3	90387072	missense	probably benign	0.38
R6344:Slc27a3	UTSW	3	90387654	nonsense	probably null
R6450:Slc27a3	UTSW	3	90385470	missense	probably damaging	0.97
R6988:Slc27a3	UTSW	3	90386290	missense	probably benign	0.01
R7204:Slc27a3	UTSW	3	90389726	missense	probably benign	0.07
R7736:Slc27a3	UTSW	3	90389433	missense	probably benign	0.22

Predicted Primers

PCR Primer
(F):5'- CTTCAGCAGCTTGTCCTTGG -3'
(R):5'- CCTGGCTTTACAAGGTGAGAGAC -3'

Sequencing Primer
(F):5'- AGCTTGTCCTTGGCCAGC -3'
(R):5'- CTTTACAAGGTGAGAGACAGAGTG -3'

Posted On

2015-04-17