Mutagenetix > Incidental Mutation

Incidental Mutation 'R8046:Slc27a3'

618738

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

067483-MU

Accession Numbers

Essential gene?

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

Stock #

R8046 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

90292546-90297245 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 90296974 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 42 (C42R)

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

probably damaging
Transcript: ENSMUST00000029541
AA Change: C42R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000029541
Gene: ENSMUSG00000027932
AA Change: C42R

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

probably benign
Transcript: ENSMUST00000132041

SMART Domains

Protein: ENSMUSP00000122599
Gene: ENSMUSG00000027932

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

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (64/64)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	G	T	5: 77,044,325 (GRCm39)	D188E	probably benign	Het
Ahcyl2	T	C	6: 29,878,619 (GRCm39)	L273P	probably damaging	Het
Amotl2	C	T	9: 102,600,968 (GRCm39)	T345I	probably benign	Het
Angpt1	T	C	15: 42,359,752 (GRCm39)	T227A	probably benign	Het
Ankle1	C	T	8: 71,860,665 (GRCm39)	T374M	probably damaging	Het
Arhgap18	T	C	10: 26,763,853 (GRCm39)	V481A	probably damaging	Het
Astn2	A	T	4: 66,184,587 (GRCm39)	L170*	probably null	Het
Bms1	T	C	6: 118,385,105 (GRCm39)	T368A	probably benign	Het
Boll	A	G	1: 55,385,562 (GRCm39)	I121T	probably damaging	Het
Brca1	A	C	11: 101,416,296 (GRCm39)	C613G	probably benign	Het
Cdk14	T	A	5: 5,299,159 (GRCm39)	I65F	possibly damaging	Het
Chn1	T	C	2: 73,448,363 (GRCm39)	D335G	probably damaging	Het
Clpsl2	G	A	17: 28,769,702 (GRCm39)	G55R	probably damaging	Het
Col12a1	A	G	9: 79,613,508 (GRCm39)		probably null	Het
Cplane2	A	C	4: 140,947,348 (GRCm39)	Q243P	probably damaging	Het
Crtac1	T	C	19: 42,297,492 (GRCm39)		probably benign	Het
Dhx40	A	T	11: 86,675,766 (GRCm39)	C507*	probably null	Het
Dok2	A	G	14: 71,015,482 (GRCm39)	D403G	probably damaging	Het
Eif1ad14	T	C	12: 87,886,335 (GRCm39)	D98G	probably benign	Het
Eif2b5	A	G	16: 20,325,154 (GRCm39)	T556A	possibly damaging	Het
Eml6	A	T	11: 29,708,981 (GRCm39)	V1480E	probably damaging	Het
Evl	C	T	12: 108,647,783 (GRCm39)	R295*	probably null	Het
Glra1	A	G	11: 55,427,225 (GRCm39)	S120P	probably damaging	Het
Habp4	T	C	13: 64,322,656 (GRCm39)	S242P	probably benign	Het
Igkv12-46	A	G	6: 69,741,570 (GRCm39)	I95T	probably damaging	Het
Itch	G	T	2: 155,052,422 (GRCm39)	G674V	probably damaging	Het
Itpr2	A	G	6: 146,327,957 (GRCm39)	L92P	probably damaging	Het
Kcnk2	A	G	1: 188,990,933 (GRCm39)		probably null	Het
Krt75	T	C	15: 101,481,199 (GRCm39)	T192A	probably benign	Het
Lrp1b	T	A	2: 41,159,199 (GRCm39)	K1694N		Het
Lrrc14	A	G	15: 76,598,731 (GRCm39)	K456E	possibly damaging	Het
Map1lc3a	G	T	2: 155,119,129 (GRCm39)		probably benign	Het
Naip5	T	A	13: 100,358,741 (GRCm39)	M832L	probably benign	Het
Nectin1	A	G	9: 43,703,798 (GRCm39)	T263A	probably benign	Het
Nnt	A	T	13: 119,511,286 (GRCm39)	M330K	probably damaging	Het
Nrap	T	C	19: 56,308,683 (GRCm39)	N1711D	possibly damaging	Het
Olfm1	A	G	2: 28,119,135 (GRCm39)	N285D	possibly damaging	Het
Or4b1d	T	A	2: 89,969,159 (GRCm39)	E108V	probably damaging	Het
Or51ab3	T	A	7: 103,201,584 (GRCm39)	S197R	possibly damaging	Het
Or8b8	A	T	9: 37,808,685 (GRCm39)		probably benign	Het
Pag1	A	G	3: 9,764,482 (GRCm39)	Y224H	probably damaging	Het
Pde8a	T	C	7: 80,958,587 (GRCm39)	C322R	possibly damaging	Het
Pde8a	A	T	7: 80,967,118 (GRCm39)	T420S	probably benign	Het
Per2	A	C	1: 91,363,425 (GRCm39)	L365R	possibly damaging	Het
Pml	A	G	9: 58,154,256 (GRCm39)		probably null	Het
Ppp1r1a	T	A	15: 103,446,305 (GRCm39)	M1L	possibly damaging	Het
Ppp3r2	G	T	4: 49,681,913 (GRCm39)	C12*	probably null	Het
Rbm20	C	A	19: 53,806,402 (GRCm39)	A494D	probably benign	Het
Scyl1	C	T	19: 5,810,620 (GRCm39)	R531Q	possibly damaging	Het
Skp2	C	A	15: 9,139,687 (GRCm39)	V38F	probably damaging	Het
Tekt5	A	G	16: 10,213,277 (GRCm39)	F3L	probably benign	Het
Tmem200c	A	G	17: 69,147,513 (GRCm39)	K32R	probably benign	Het
Tmprss11f	T	A	5: 86,676,132 (GRCm39)	R350W	probably damaging	Het
Tph2	A	T	10: 115,015,499 (GRCm39)	I121N	possibly damaging	Het
Trim37	A	G	11: 87,037,794 (GRCm39)	D176G	possibly damaging	Het
Trpc4	A	T	3: 54,102,335 (GRCm39)	I78F	probably damaging	Het
Ttn	T	C	2: 76,609,829 (GRCm39)	K17526E	probably damaging	Het
Tuba8	A	C	6: 121,199,832 (GRCm39)	Y172S	probably damaging	Het
Tubg1	G	T	11: 101,014,854 (GRCm39)	A199S	probably benign	Het
Urb2	A	T	8: 124,754,771 (GRCm39)	R159S	possibly damaging	Het
Usp25	T	A	16: 76,906,063 (GRCm39)	C840S	probably damaging	Het
Vmn1r36	T	A	6: 66,692,964 (GRCm39)	K304*	probably null	Het
Vmn1r37	C	A	6: 66,708,656 (GRCm39)	T94N	probably damaging	Het
Vmn2r7	T	C	3: 64,614,479 (GRCm39)	N445S	probably damaging	Het
Wnk4	G	A	11: 101,164,918 (GRCm39)	G749D	probably benign	Het
Wscd2	G	A	5: 113,689,176 (GRCm39)	V61I	probably benign	Het
Zfp85	T	A	13: 67,897,098 (GRCm39)	R325*	probably null	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
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
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'- ATCCAAAGGAAATCCGGGC -3'
(R):5'- AGTGTTTCAGGAAGGACCACC -3'

Sequencing Primer
(F):5'- TCTAGCAGCCGCATCTCCAG -3'
(R):5'- AGGACCACCTGGAGTGTGTG -3'

Posted On

2020-01-23