Mutagenetix > Incidental Mutation

Incidental Mutation 'R9275:Slc27a5'

703221

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

Accession Numbers

Essential gene?

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

Stock #

R9275 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

12722273-12732119 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 12731640 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 117 (D117G)

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: D117G

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

SMART Domains

Protein: ENSMUSP00000032539
Gene: ENSMUSG00000030382
AA Change: D117G

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 damaging
Transcript: ENSMUST00000120903
AA Change: D117G

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

SMART Domains

Protein: ENSMUSP00000112495
Gene: ENSMUSG00000030382
AA Change: D117G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

100% (66/66)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abr	A	G	11: 76,355,108 (GRCm39)	Y249H	probably damaging	Het
Afdn	T	A	17: 14,024,270 (GRCm39)	C59S	probably damaging	Het
Akap11	C	A	14: 78,751,149 (GRCm39)	V413F		Het
Ank3	T	C	10: 69,822,662 (GRCm39)	S444P	probably damaging	Het
Ankrd12	C	T	17: 66,344,599 (GRCm39)	E91K	possibly damaging	Het
Arhgap10	A	G	8: 78,137,665 (GRCm39)	S309P	probably damaging	Het
Arpc2	C	A	1: 74,276,041 (GRCm39)	F19L	probably benign	Het
Atp5f1a	C	T	18: 77,868,997 (GRCm39)	T457I	probably damaging	Het
Bsn	C	T	9: 107,988,819 (GRCm39)	R2311H	probably damaging	Het
C1ra	A	G	6: 124,494,383 (GRCm39)	T277A	probably benign	Het
Celsr3	C	G	9: 108,715,689 (GRCm39)	L2124V	probably benign	Het
Cenpv	T	C	11: 62,415,989 (GRCm39)	*253W	probably null	Het
Cfap54	A	T	10: 92,875,048 (GRCm39)	V479E	possibly damaging	Het
Clec1a	T	C	6: 129,428,564 (GRCm39)		probably benign	Het
Cmpk2	A	T	12: 26,519,568 (GRCm39)	Y73F	probably benign	Het
Cpne2	T	C	8: 95,281,643 (GRCm39)	I226T	possibly damaging	Het
Cyp2c67	C	T	19: 39,597,699 (GRCm39)	R433Q	probably damaging	Het
Dagla	A	G	19: 10,232,220 (GRCm39)	Y489H	probably damaging	Het
Dennd4a	C	A	9: 64,749,906 (GRCm39)	P166T	probably damaging	Het
Dnm2	C	T	9: 21,416,977 (GRCm39)	R837W	possibly damaging	Het
Enpp2	C	T	15: 54,713,484 (GRCm39)	R658Q	probably benign	Het
Gm10521	G	A	1: 171,724,030 (GRCm39)	V114I	unknown	Het
H2-T24	T	A	17: 36,328,276 (GRCm39)	E69V	probably damaging	Het
H6pd	T	A	4: 150,080,307 (GRCm39)	K179N	probably damaging	Het
Hsf2bp	C	T	17: 32,206,336 (GRCm39)	W265*	probably null	Het
Igfn1	C	A	1: 135,901,185 (GRCm39)	R431L	probably damaging	Het
Kcng2	T	C	18: 80,339,074 (GRCm39)	S405G	possibly damaging	Het
Leng9	T	C	7: 4,151,447 (GRCm39)	T410A	probably benign	Het
Lrp1b	T	C	2: 40,487,076 (GRCm39)	Y4557C		Het
Ltbp2	G	A	12: 84,837,864 (GRCm39)	P1192L	probably benign	Het
Mlkl	A	G	8: 112,043,055 (GRCm39)	V364A	probably benign	Het
Mns1	T	A	9: 72,356,507 (GRCm39)	F254Y	probably benign	Het
Naip1	T	A	13: 100,562,684 (GRCm39)	N827I	probably damaging	Het
Neb	C	T	2: 52,146,190 (GRCm39)	R2929H	probably damaging	Het
Or5m13	A	G	2: 85,749,046 (GRCm39)	Y259C	probably benign	Het
Or5v1b	T	A	17: 37,841,819 (GRCm39)	M317K	probably benign	Het
Pde10a	A	G	17: 9,200,488 (GRCm39)	*797W	probably null	Het
Pirb	T	G	7: 3,719,859 (GRCm39)	H429P	probably benign	Het
Plbd1	A	G	6: 136,594,286 (GRCm39)	L321P	probably damaging	Het
Pmfbp1	A	G	8: 110,262,471 (GRCm39)	I722V	probably benign	Het
Polr2b	A	G	5: 77,471,485 (GRCm39)	R274G	probably damaging	Het
Prune2	C	T	19: 17,101,144 (GRCm39)	T2216I	probably benign	Het
Psma3	A	T	12: 71,041,156 (GRCm39)	D252V	probably benign	Het
Ptpn1	C	T	2: 167,816,176 (GRCm39)	T230I	probably damaging	Het
Rhpn1	T	C	15: 75,585,120 (GRCm39)	V519A	possibly damaging	Het
Rnf213	T	C	11: 119,326,768 (GRCm39)	V1586A		Het
Rrp36	T	A	17: 46,983,306 (GRCm39)	K103*	probably null	Het
Ryr2	T	C	13: 11,897,976 (GRCm39)	T140A	probably benign	Het
Scn1a	T	A	2: 66,130,026 (GRCm39)	Y243F	probably damaging	Het
Sdk1	A	G	5: 141,941,953 (GRCm39)	T534A	possibly damaging	Het
Slc2a1	A	T	4: 118,990,607 (GRCm39)	E246D	probably benign	Het
Smpd2	T	C	10: 41,363,685 (GRCm39)	D289G	probably benign	Het
Spag6	A	C	2: 18,703,985 (GRCm39)	E11A	probably benign	Het
Stard3	G	A	11: 98,262,931 (GRCm39)		probably benign	Het
Tcf19	A	G	17: 35,825,899 (GRCm39)	V86A	probably damaging	Het
Tcstv7a	T	C	13: 120,289,993 (GRCm39)	S68G	possibly damaging	Het
Tigit	A	T	16: 43,479,833 (GRCm39)	M154K	probably benign	Het
Trim34a	T	A	7: 103,910,201 (GRCm39)	N334K	probably damaging	Het
Tsen15	T	C	1: 152,259,098 (GRCm39)	I87V	probably damaging	Het
Ttn	A	T	2: 76,738,218 (GRCm39)	M4153K	unknown	Het
Uchl3	A	T	14: 101,905,963 (GRCm39)		probably null	Het
Usp1	A	G	4: 98,819,578 (GRCm39)	K347E	probably damaging	Het
Vmn1r73	T	C	7: 11,490,479 (GRCm39)	M99T	probably benign	Het
Vmn2r20	A	G	6: 123,362,394 (GRCm39)	W797R	probably damaging	Het
Vwa7	A	G	17: 35,238,712 (GRCm39)	T267A	probably damaging	Het
Zpld2	A	G	4: 133,922,770 (GRCm39)	L521P	probably 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
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
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
Z1177:Slc27a5	UTSW	7	12,722,782 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAGCAGCATCTCTTGTGTTCTG -3'
(R):5'- ACATGCCTTGTGCTGCTTGG -3'

Sequencing Primer
(F):5'- GGATTACGGCATCCTTCAGC -3'
(R):5'- TGGATCAGCTCCTGGATGC -3'

Posted On

2022-03-25