Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02165:Slc27a5'

282660

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc27a5

Ensembl Gene

ENSMUSG00000030382

Gene Name

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

Synonyms

VLCSH2, FACVL3, VLCS-H2, FATP5

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.114) question?

Stock #

IGL02165

Quality Score

Status

Chromosome

Chromosomal Location

12722273-12732119 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 12728875 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 130 (V130A)

Gene Model

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

AlphaFold

Q4LDG0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000032539
AA Change: V329A

PolyPhen 2 Score 0.688 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000032539
Gene: ENSMUSG00000030382
AA Change: V329A

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

possibly damaging
Transcript: ENSMUST00000120903
AA Change: V329A

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000112495
Gene: ENSMUSG00000030382
AA Change: V329A

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 damaging
Transcript: ENSMUST00000133977
AA Change: V130A

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000117208
Gene: ENSMUSG00000030382
AA Change: V130A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209577

Coding Region Coverage

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1cf	T	A	19: 31,904,586 (GRCm39)	M199K	possibly damaging	Het
Abo	C	A	2: 26,733,441 (GRCm39)	V255L	probably damaging	Het
Alas1	A	T	9: 106,115,982 (GRCm39)	M344K	probably damaging	Het
Ap1m1	A	G	8: 73,003,653 (GRCm39)	I118V	probably benign	Het
Ap5m1	A	T	14: 49,316,185 (GRCm39)	I252F	possibly damaging	Het
Arhgef2	G	A	3: 88,553,527 (GRCm39)	R886H	probably damaging	Het
Atp13a4	T	C	16: 29,252,828 (GRCm39)	E706G	probably damaging	Het
Baz2a	C	A	10: 127,955,218 (GRCm39)	A775E	probably benign	Het
C3	A	T	17: 57,532,092 (GRCm39)	F210I	probably benign	Het
Casq1	A	G	1: 172,040,948 (GRCm39)	L280P	probably damaging	Het
Cebpz	A	G	17: 79,229,598 (GRCm39)	F919L	probably damaging	Het
Commd1b	A	T	11: 22,932,072 (GRCm39)		probably benign	Het
Dclre1c	T	A	2: 3,451,418 (GRCm39)		probably benign	Het
Dsc3	T	G	18: 20,116,709 (GRCm39)	M276L	probably benign	Het
Dync2i2	T	C	2: 29,922,172 (GRCm39)	T430A	probably benign	Het
Eftud2	A	G	11: 102,742,573 (GRCm39)		probably benign	Het
Elfn2	T	A	15: 78,557,618 (GRCm39)	T310S	probably benign	Het
Ep300	A	G	15: 81,525,592 (GRCm39)	K1472R	probably benign	Het
Fbxl2	T	C	9: 113,847,099 (GRCm39)	D8G	probably benign	Het
Galnt5	T	A	2: 57,888,877 (GRCm39)	M159K	probably benign	Het
Hars2	T	A	18: 36,916,447 (GRCm39)	M1K	probably null	Het
Hk1	T	C	10: 62,117,667 (GRCm39)	T619A	probably damaging	Het
Ifi44	C	T	3: 151,455,067 (GRCm39)	V53M	probably damaging	Het
Ippk	T	A	13: 49,600,011 (GRCm39)	V339D	possibly damaging	Het
Kcnma1	G	T	14: 23,387,035 (GRCm39)	N875K	possibly damaging	Het
Kdm5a	T	A	6: 120,392,251 (GRCm39)	V991E	probably damaging	Het
Larp6	A	G	9: 60,620,595 (GRCm39)	E36G	probably benign	Het
Lonp2	A	T	8: 87,435,654 (GRCm39)	D210V	probably damaging	Het
Lrrc4c	G	A	2: 97,459,378 (GRCm39)	M1I	probably null	Het
Mmp2	A	G	8: 93,559,847 (GRCm39)	K270R	probably null	Het
Nexmif	C	T	X: 103,128,360 (GRCm39)	V1186I	probably benign	Het
Or11g2	A	G	14: 50,856,468 (GRCm39)	Y263C	probably damaging	Het
Or1x2	A	T	11: 50,918,470 (GRCm39)	I214F	probably benign	Het
Pld2	T	C	11: 70,446,503 (GRCm39)	L763P	probably damaging	Het
Pold1	A	T	7: 44,187,484 (GRCm39)	F644L	probably damaging	Het
Prrc2b	T	C	2: 32,104,652 (GRCm39)	S1377P	probably damaging	Het
Rps18-ps6	T	G	13: 97,896,648 (GRCm39)	K150T	probably benign	Het
Rttn	A	G	18: 89,061,165 (GRCm39)	D1111G	probably benign	Het
Slfn8	T	C	11: 82,908,022 (GRCm39)	R174G	probably benign	Het
Slitrk6	G	A	14: 110,989,249 (GRCm39)	P153S	probably benign	Het
Sorcs3	T	C	19: 48,642,511 (GRCm39)	I388T	probably benign	Het
Star	A	T	8: 26,302,843 (GRCm39)	T262S	possibly damaging	Het
Strn	A	T	17: 78,995,049 (GRCm39)	W2R	probably damaging	Het
Tnmd	T	C	X: 132,763,701 (GRCm39)	S172P	probably damaging	Het
Togaram2	A	G	17: 72,004,861 (GRCm39)	K305R	probably benign	Het
Trhde	C	A	10: 114,428,066 (GRCm39)	W410L	probably damaging	Het
Trim5	C	T	7: 103,928,566 (GRCm39)	R125Q	probably damaging	Het
Unc45b	C	T	11: 82,831,007 (GRCm39)		probably benign	Het
Vmn1r80	T	A	7: 11,927,379 (GRCm39)	M163K	probably benign	Het
Wnk4	C	A	11: 101,166,117 (GRCm39)		probably benign	Het
Zfp277	T	A	12: 40,365,802 (GRCm39)	I430F	possibly damaging	Het
Zfp566	A	T	7: 29,777,255 (GRCm39)	C309S	probably damaging	Het
Zfp740	T	G	15: 102,121,109 (GRCm39)	F141V	possibly damaging	Het
Zfp87	T	A	13: 67,665,989 (GRCm39)	I158F	probably damaging	Het
Zswim3	C	A	2: 164,663,035 (GRCm39)	A505D	possibly damaging	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
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
R1662:Slc27a5	UTSW	7	12,725,173 (GRCm39)	missense	probably damaging	1.00
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

Posted On

2015-04-16