Mutagenetix > Incidental Mutation

Incidental Mutation 'R5328:Slc27a3'

422117

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

042843-MU

Accession Numbers

Essential gene?

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

Stock #

R5328 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

90292546-90297245 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 90294139 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 470 (D470G)

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: D505G

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

SMART Domains

Protein: ENSMUSP00000029541
Gene: ENSMUSG00000027932
AA Change: D505G

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: D470G

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

SMART Domains

Protein: ENSMUSP00000122599
Gene: ENSMUSG00000027932
AA Change: D470G

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: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.5%

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	T	A	5: 8,887,694 (GRCm39)	V860E	possibly damaging	Het
Abcc6	T	C	7: 45,641,735 (GRCm39)	D881G	probably benign	Het
Abcc9	A	G	6: 142,627,785 (GRCm39)	V415A	probably benign	Het
Adgrb3	A	C	1: 25,133,356 (GRCm39)	N1003K	possibly damaging	Het
Adora3	C	T	3: 105,814,619 (GRCm39)	T123I	probably benign	Het
Amotl2	A	C	9: 102,600,967 (GRCm39)	T345P	probably benign	Het
Arap3	C	T	18: 38,124,740 (GRCm39)	E247K	possibly damaging	Het
Atp8b1	A	T	18: 64,664,462 (GRCm39)	D1235E	probably benign	Het
Axl	A	T	7: 25,472,836 (GRCm39)	V400E	probably damaging	Het
Brd8	T	A	18: 34,741,034 (GRCm39)	N431Y	probably benign	Het
Cadps	A	T	14: 12,457,790 (GRCm38)	N1025K	probably benign	Het
Cblc	A	T	7: 19,526,505 (GRCm39)	S195T	possibly damaging	Het
Chd2	C	T	7: 73,113,429 (GRCm39)	A1184T	possibly damaging	Het
Chst10	G	A	1: 38,935,043 (GRCm39)		probably benign	Het
Col12a1	T	C	9: 79,527,342 (GRCm39)	K2663E	probably damaging	Het
Cspg4	A	T	9: 56,793,140 (GRCm39)	I292L	probably benign	Het
Cul1	T	C	6: 47,485,251 (GRCm39)	V294A	probably damaging	Het
Cyp2d11	G	A	15: 82,275,972 (GRCm39)	P203L	probably benign	Het
Dnaaf10	C	A	11: 17,172,220 (GRCm39)	P103Q	probably damaging	Het
Dscam	T	C	16: 96,474,878 (GRCm39)	H1228R	probably benign	Het
Eif3l	A	T	15: 78,977,561 (GRCm39)	K534*	probably null	Het
Enpep	T	C	3: 129,074,159 (GRCm39)	E796G	probably benign	Het
Ext1	C	A	15: 52,939,213 (GRCm39)	W612L	probably damaging	Het
Faap100	T	A	11: 120,268,458 (GRCm39)	E105V	possibly damaging	Het
Fam117a	T	A	11: 95,254,996 (GRCm39)		probably null	Het
Fan1	A	T	7: 64,004,217 (GRCm39)	Y750N	probably damaging	Het
Fat4	T	A	3: 39,011,017 (GRCm39)	I2039N	probably damaging	Het
Gabrr2	G	T	4: 33,082,565 (GRCm39)	D106Y	probably damaging	Het
Gak	A	C	5: 108,764,867 (GRCm39)	C145G	possibly damaging	Het
Galnt14	A	T	17: 73,812,454 (GRCm39)	N406K	possibly damaging	Het
Gm10439	T	G	X: 148,419,159 (GRCm39)	*434E	probably null	Het
Gm10837	G	T	14: 122,728,190 (GRCm39)	R22L	unknown	Het
Gm19965	T	A	1: 116,749,148 (GRCm39)	H276Q	possibly damaging	Het
Gm43517	T	C	12: 49,437,939 (GRCm39)		probably benign	Het
Greb1l	A	T	18: 10,553,720 (GRCm39)	I1574F	probably damaging	Het
Gzme	G	A	14: 56,355,224 (GRCm39)	H236Y	probably benign	Het
Heatr5b	G	A	17: 79,133,791 (GRCm39)	T266I	possibly damaging	Het
Hk3	T	C	13: 55,161,306 (GRCm39)	I185V	probably benign	Het
Hnrnpr	A	G	4: 136,066,527 (GRCm39)	E302G	probably benign	Het
Itgal	T	C	7: 126,910,847 (GRCm39)		probably null	Het
Itk	A	G	11: 46,222,703 (GRCm39)	S583P	probably benign	Het
Loxhd1	A	T	18: 77,498,268 (GRCm39)	I1448F	probably damaging	Het
Macf1	GCCCCC	GCCCCCC	4: 123,244,784 (GRCm39)		probably null	Het
Man2a2	A	T	7: 80,018,504 (GRCm39)	F118L	probably benign	Het
Mfsd5	T	A	15: 102,189,447 (GRCm39)	V273E	probably damaging	Het
Nfe2l2	A	G	2: 75,507,200 (GRCm39)	L300P	probably damaging	Het
Nt5c1a	T	G	4: 123,102,786 (GRCm39)	L122R	possibly damaging	Het
Nt5c3b	A	G	11: 100,331,067 (GRCm39)	F42S	probably damaging	Het
Or2av9	C	A	11: 58,381,255 (GRCm39)	A109S	possibly damaging	Het
Or51g2	T	A	7: 102,623,175 (GRCm39)	N8I	possibly damaging	Het
Pabpc1	A	T	15: 36,603,121 (GRCm39)	D204E	probably benign	Het
Panx2	A	G	15: 88,952,298 (GRCm39)	N255S	probably damaging	Het
Pcnt	A	G	10: 76,247,553 (GRCm39)	L993P	probably damaging	Het
Pfas	A	T	11: 68,879,418 (GRCm39)	C1160S	probably damaging	Het
Plekhh3	T	A	11: 101,058,484 (GRCm39)		probably benign	Het
Plod3	T	A	5: 137,018,537 (GRCm39)	N258K	probably damaging	Het
Prr14l	T	C	5: 32,987,365 (GRCm39)	Q710R	probably benign	Het
Rnf216	G	T	5: 143,078,754 (GRCm39)	T65K	possibly damaging	Het
Samd9l	T	C	6: 3,376,739 (GRCm39)	E174G	probably damaging	Het
Septin12	T	A	16: 4,811,857 (GRCm39)	M63L	possibly damaging	Het
Sh3bgrl2	T	A	9: 83,459,509 (GRCm39)	D22E	probably benign	Het
Sirpd	T	C	3: 15,397,234 (GRCm39)	M17V	unknown	Het
Skil	A	G	3: 31,171,718 (GRCm39)	K488R	probably benign	Het
Slamf6	T	A	1: 171,765,662 (GRCm39)	I262K	probably benign	Het
Sorbs3	A	T	14: 70,418,623 (GRCm39)	V680E	probably damaging	Het
Sox9	C	T	11: 112,673,484 (GRCm39)	T25I	probably benign	Het
Srsf1	G	T	11: 87,940,819 (GRCm39)		probably benign	Het
Stard9	A	C	2: 120,529,711 (GRCm39)	E1989D	probably damaging	Het
Thumpd2	T	A	17: 81,351,591 (GRCm39)	I277F	possibly damaging	Het
Tinag	C	A	9: 76,912,913 (GRCm39)	G299*	probably null	Het
Tk2	A	T	8: 104,955,931 (GRCm39)		probably null	Het
Tmem44	A	G	16: 30,359,709 (GRCm39)	S210P	possibly damaging	Het
Traf3ip1	C	A	1: 91,447,791 (GRCm39)	P423T	probably damaging	Het
Trmt12	A	G	15: 58,744,704 (GRCm39)	D34G	probably damaging	Het
Ttc39b	A	G	4: 83,180,178 (GRCm39)	Y72H	probably damaging	Het
Ttn	G	A	2: 76,708,755 (GRCm39)		probably benign	Het
Ttyh2	T	A	11: 114,600,894 (GRCm39)	I381N	possibly damaging	Het
Uaca	A	T	9: 60,777,814 (GRCm39)	N734Y	probably benign	Het
Usp34	T	C	11: 23,414,616 (GRCm39)	I2853T	probably benign	Het
Usp34	G	A	11: 23,438,659 (GRCm39)	G3407D	probably benign	Het
Vmn2r78	A	G	7: 86,570,238 (GRCm39)	Y252C	probably damaging	Het
Wdr19	G	A	5: 65,401,522 (GRCm39)	C979Y	probably damaging	Het
Yeats2	A	T	16: 19,989,955 (GRCm39)	H277L	probably damaging	Het
Zbtb2	T	C	10: 4,319,267 (GRCm39)	Y253C	possibly damaging	Het
Zfat	C	A	15: 68,051,677 (GRCm39)	G706C	probably damaging	Het
Zfp106	A	T	2: 120,350,898 (GRCm39)	N1584K	possibly 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
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
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'- AGGGGATAATGTTGCCGATG -3'
(R):5'- GCTGGCAGACAAGGTTAAAC -3'

Sequencing Primer
(F):5'- CCGATGTGGTCTGAGGAAG -3'
(R):5'- GGTTAAACCTGGCACCTGAG -3'

Posted On

2016-08-04