Mutagenetix > Incidental Mutation

Incidental Mutation 'R1662:Slc27a5'

186841

Institutional Source

Beutler Lab

Gene Symbol

Slc27a5

Ensembl Gene

ENSMUSG00000030382

Gene Name

solute carrier family 27 (fatty acid transporter), member 5

Synonyms

VLCSH2, FACVL3, VLCS-H2, FATP5

MMRRC Submission

039698-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.138) question?

Stock #

R1662 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

12722273-12732119 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 12725173 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 425 (I425F)

Ref Sequence

ENSEMBL: ENSMUSP00000032539 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032539] [ENSMUST00000120903]

AlphaFold

Q4LDG0

Predicted Effect

probably damaging
Transcript: ENSMUST00000032539
AA Change: I425F

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

SMART Domains

Protein: ENSMUSP00000032539
Gene: ENSMUSG00000030382
AA Change: I425F

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
transmembrane domain	29	51	N/A	INTRINSIC
transmembrane domain	58	77	N/A	INTRINSIC
Pfam:AMP-binding	119	557	1.3e-64	PFAM
Pfam:AMP-binding_C	565	641	1.4e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000120903

SMART Domains

Protein: ENSMUSP00000112495
Gene: ENSMUSG00000030382

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
transmembrane domain	29	51	N/A	INTRINSIC
transmembrane domain	58	77	N/A	INTRINSIC
Pfam:AMP-binding	119	414	2e-42	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000133977

SMART Domains

Protein: ENSMUSP00000117208
Gene: ENSMUSG00000030382

Domain	Start	End	E-Value	Type
Pfam:AMP-binding	1	102	3.3e-8	PFAM
Pfam:AMP-binding	100	195	1.3e-16	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155192

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an isozyme of very long-chain acyl-CoA synthetase (VLCS). It is capable of activating very long-chain fatty-acids containing 24- and 26-carbons. It is expressed in liver and associated with endoplasmic reticulum but not with peroxisomes. Its primary role is in fatty acid elongation or complex lipid synthesis rather than in degradation. This gene has a mouse ortholog. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit altered lipid homeostasis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730409E04Rik	T	A	4: 126,505,475 (GRCm39)	M1K	probably null	Het
5730507C01Rik	A	C	12: 18,581,967 (GRCm39)	R119S	possibly damaging	Het
Abca1	T	A	4: 53,090,251 (GRCm39)		probably null	Het
Aff1	G	A	5: 103,988,923 (GRCm39)	G830D	probably damaging	Het
AI987944	T	C	7: 41,023,873 (GRCm39)	T369A	possibly damaging	Het
Aoah	A	G	13: 21,184,283 (GRCm39)		probably null	Het
Arhgap40	C	G	2: 158,381,190 (GRCm39)	C349W	probably damaging	Het
Atic	T	A	1: 71,615,286 (GRCm39)	D438E	probably benign	Het
Barhl2	A	T	5: 106,601,365 (GRCm39)	M338K	probably benign	Het
Btd	T	C	14: 31,388,747 (GRCm39)	V156A	probably damaging	Het
Catspere2	A	G	1: 177,874,552 (GRCm39)	K140E	unknown	Het
Ccdc82	T	C	9: 13,262,397 (GRCm39)	V319A	probably damaging	Het
Celsr1	G	T	15: 85,915,263 (GRCm39)	N903K	probably damaging	Het
Cenpf	T	A	1: 189,389,968 (GRCm39)	N1288I	probably damaging	Het
Ciao1	G	A	2: 127,086,857 (GRCm39)	T252I	probably benign	Het
Cma2	T	C	14: 56,210,573 (GRCm39)	C87R	probably damaging	Het
Cops7a	T	A	6: 124,939,401 (GRCm39)	R83W	probably damaging	Het
Cxcr6	A	T	9: 123,639,613 (GRCm39)	M205L	possibly damaging	Het
Dcc	A	G	18: 71,553,409 (GRCm39)	L749P	probably benign	Het
Dync1i2	C	T	2: 71,081,323 (GRCm39)	T484I	possibly damaging	Het
Epas1	A	T	17: 87,136,455 (GRCm39)	K742N	probably damaging	Het
Evc2	A	G	5: 37,506,094 (GRCm39)	T138A	probably benign	Het
F5	T	C	1: 164,035,457 (GRCm39)	I1877T	probably damaging	Het
Fat1	T	G	8: 45,406,201 (GRCm39)	V984G	probably benign	Het
Fat4	T	A	3: 39,034,928 (GRCm39)	V2860D	probably damaging	Het
Foxn4	C	T	5: 114,394,955 (GRCm39)	R324Q	probably benign	Het
Gapdhs	C	T	7: 30,436,427 (GRCm39)	R120H	probably damaging	Het
Gcnt3	T	C	9: 69,941,659 (GRCm39)	D303G	probably benign	Het
Gng11	A	T	6: 4,008,066 (GRCm39)	Y43F	probably benign	Het
Hectd4	A	C	5: 121,455,308 (GRCm39)	M651L	probably benign	Het
Ifngr2	T	A	16: 91,357,484 (GRCm39)	Y200N	probably benign	Het
Iqgap3	T	C	3: 88,005,708 (GRCm39)	V512A	probably benign	Het
Kdm2a	A	C	19: 4,378,240 (GRCm39)	D187E	probably damaging	Het
Klhl8	A	G	5: 104,019,911 (GRCm39)	V370A	probably damaging	Het
Kmt2a	G	A	9: 44,747,967 (GRCm39)		probably benign	Het
Krt12	C	A	11: 99,311,650 (GRCm39)	V184F	probably benign	Het
Lrrc8c	A	T	5: 105,754,623 (GRCm39)	I133F	probably benign	Het
Lsmem1	GTACATACATACATACATACATACATACA	GTACATACATACATACATACATACATACATACA	12: 40,235,260 (GRCm39)		probably null	Het
Map1a	C	G	2: 121,136,889 (GRCm39)	S2568R	possibly damaging	Het
Mbnl1	C	A	3: 60,532,593 (GRCm39)	Q301K	probably damaging	Het
Med12l	A	T	3: 59,001,038 (GRCm39)	K724N	probably damaging	Het
Mroh2a	A	C	1: 88,169,340 (GRCm39)	I672L	probably benign	Het
Mybph	C	T	1: 134,121,374 (GRCm39)	P45S	probably benign	Het
Myo15a	T	A	11: 60,392,527 (GRCm39)	S2157T	probably damaging	Het
Or14j2	G	T	17: 37,886,164 (GRCm39)	T50K	probably damaging	Het
Or1ab2	T	C	8: 72,863,623 (GRCm39)	V71A	probably benign	Het
Or2t35	T	A	14: 14,407,880 (GRCm38)	Y217*	probably null	Het
Or5h25	T	C	16: 58,930,967 (GRCm39)	E2G	probably benign	Het
Otogl	A	G	10: 107,634,218 (GRCm39)	I1419T	possibly damaging	Het
Ovol1	A	T	19: 5,601,667 (GRCm39)	F118L	probably damaging	Het
Pak5	T	C	2: 135,958,680 (GRCm39)	D136G	probably damaging	Het
Pik3r2	T	C	8: 71,223,250 (GRCm39)	Y417C	probably damaging	Het
Ppp2r2a	T	C	14: 67,254,052 (GRCm39)	N372S	probably benign	Het
Prss30	G	T	17: 24,191,806 (GRCm39)	N238K	possibly damaging	Het
Prss33	C	A	17: 24,053,785 (GRCm39)		probably null	Het
Ptpn4	T	C	1: 119,692,788 (GRCm39)	E187G	probably damaging	Het
Ptprg	A	T	14: 12,207,357 (GRCm38)	N100I	probably damaging	Het
Rbpms2	T	C	9: 65,558,324 (GRCm39)	V130A	probably benign	Het
Rdh7	A	T	10: 127,724,481 (GRCm39)	M1K	probably null	Het
Rtp3	A	C	9: 110,815,751 (GRCm39)	S205A	probably benign	Het
Ryr3	G	T	2: 112,539,618 (GRCm39)	D3207E	probably damaging	Het
Scn9a	T	A	2: 66,313,803 (GRCm39)	T1972S	probably benign	Het
Scnn1b	T	C	7: 121,501,551 (GRCm39)	V122A	probably benign	Het
Slc15a4	A	G	5: 127,686,043 (GRCm39)	L213S	probably damaging	Het
Spata31d1b	A	G	13: 59,864,442 (GRCm39)	D530G	probably benign	Het
Tcf25	T	A	8: 124,108,289 (GRCm39)	S115T	probably benign	Het
Tet2	A	G	3: 133,172,613 (GRCm39)	L1883P	possibly damaging	Het
Trim21	T	A	7: 102,211,105 (GRCm39)	R205*	probably null	Het
Ttc23	G	T	7: 67,375,069 (GRCm39)		probably null	Het
Tut7	T	C	13: 59,947,717 (GRCm39)	E466G	possibly damaging	Het
Unc13d	T	C	11: 115,959,499 (GRCm39)	K658R	probably null	Het
Vmn1r43	A	G	6: 89,846,572 (GRCm39)	F305L	possibly damaging	Het
Vmn2r2	A	T	3: 64,024,551 (GRCm39)	C677S	probably benign	Het
Wnt5a	T	C	14: 28,240,300 (GRCm39)	M150T	probably benign	Het
Ythdc1	G	A	5: 86,975,981 (GRCm39)		probably null	Het
Zdbf2	A	T	1: 63,343,408 (GRCm39)	R596*	probably null	Het

Other mutations in Slc27a5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00592:Slc27a5	APN	7	12,722,566 (GRCm39)	missense	probably benign	0.08
IGL00906:Slc27a5	APN	7	12,724,984 (GRCm39)	missense	probably benign	0.00
IGL01067:Slc27a5	APN	7	12,722,999 (GRCm39)	missense	probably damaging	1.00
IGL02101:Slc27a5	APN	7	12,727,270 (GRCm39)	missense	possibly damaging	0.95
IGL02148:Slc27a5	APN	7	12,728,878 (GRCm39)	missense	probably damaging	0.97
IGL02165:Slc27a5	APN	7	12,728,875 (GRCm39)	missense	probably damaging	0.99
IGL02324:Slc27a5	APN	7	12,731,487 (GRCm39)	missense	probably benign	0.00
IGL02879:Slc27a5	APN	7	12,728,971 (GRCm39)	splice site	probably benign
R1519:Slc27a5	UTSW	7	12,722,386 (GRCm39)	splice site	probably null
R1774:Slc27a5	UTSW	7	12,731,534 (GRCm39)	nonsense	probably null
R2012:Slc27a5	UTSW	7	12,731,634 (GRCm39)	missense	probably damaging	0.98
R2020:Slc27a5	UTSW	7	12,727,339 (GRCm39)	missense	probably damaging	1.00
R2886:Slc27a5	UTSW	7	12,723,487 (GRCm39)	unclassified	probably benign
R4234:Slc27a5	UTSW	7	12,722,370 (GRCm39)	missense	probably benign	0.01
R4855:Slc27a5	UTSW	7	12,722,560 (GRCm39)	missense	probably benign	0.00
R5126:Slc27a5	UTSW	7	12,725,247 (GRCm39)	missense	probably damaging	1.00
R5450:Slc27a5	UTSW	7	12,728,869 (GRCm39)	missense	probably benign	0.04
R5712:Slc27a5	UTSW	7	12,732,010 (GRCm39)	unclassified	probably benign
R6302:Slc27a5	UTSW	7	12,722,479 (GRCm39)	missense	probably damaging	1.00
R6346:Slc27a5	UTSW	7	12,724,899 (GRCm39)	missense	possibly damaging	0.75
R6866:Slc27a5	UTSW	7	12,731,443 (GRCm39)	missense	probably benign	0.00
R6921:Slc27a5	UTSW	7	12,725,135 (GRCm39)	missense	probably damaging	1.00
R7329:Slc27a5	UTSW	7	12,725,089 (GRCm39)	missense	possibly damaging	0.75
R8017:Slc27a5	UTSW	7	12,723,329 (GRCm39)	missense	probably damaging	1.00
R8019:Slc27a5	UTSW	7	12,723,329 (GRCm39)	missense	probably damaging	1.00
R8312:Slc27a5	UTSW	7	12,725,214 (GRCm39)	missense	probably damaging	1.00
R8793:Slc27a5	UTSW	7	12,723,296 (GRCm39)	missense	probably benign	0.16
R8966:Slc27a5	UTSW	7	12,725,090 (GRCm39)	missense	probably benign	0.00
R8980:Slc27a5	UTSW	7	12,725,090 (GRCm39)	missense	probably benign	0.00
R9066:Slc27a5	UTSW	7	12,722,530 (GRCm39)	missense	possibly damaging	0.64
R9106:Slc27a5	UTSW	7	12,725,097 (GRCm39)	missense	probably benign	0.21
R9191:Slc27a5	UTSW	7	12,725,247 (GRCm39)	missense	probably damaging	1.00
R9275:Slc27a5	UTSW	7	12,731,640 (GRCm39)	missense	probably damaging	1.00
Z1177:Slc27a5	UTSW	7	12,722,782 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACAAGCTCAAAGGGAGTCAGCATC -3'
(R):5'- CAGGGATTATAGGCTTGCCTAGCAC -3'

Sequencing Primer
(F):5'- GGAGTCAGCATCTGGGAAAG -3'
(R):5'- tgcctagcacccatgcc -3'

Posted On

2014-05-09