Mutagenetix > Incidental Mutation

Incidental Mutation 'R9106:Slc27a5'

692014

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

068970-MU

Accession Numbers

Essential gene?

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

Stock #

R9106 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

12722273-12732119 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 12725097 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 450 (V450A)

Ref Sequence

ENSEMBL: ENSMUSP00000032539 (fasta)

Gene Model

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

AlphaFold

Q4LDG0

Predicted Effect

probably benign
Transcript: ENSMUST00000032539
AA Change: V450A

PolyPhen 2 Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000032539
Gene: ENSMUSG00000030382
AA Change: V450A

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

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

97% (63/65)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahctf1	C	A	1: 179,614,601 (GRCm39)	K394N	probably benign	Het
Banp	A	T	8: 122,705,372 (GRCm39)	T81S	possibly damaging	Het
Btn2a2	T	C	13: 23,662,465 (GRCm39)	E495G	probably benign	Het
Cfap69	T	C	5: 5,690,190 (GRCm39)	I158M	possibly damaging	Het
Cgnl1	C	A	9: 71,628,873 (GRCm39)		probably benign	Het
Clip1	T	A	5: 123,753,223 (GRCm39)	Q186L	probably damaging	Het
Clspn	G	A	4: 126,471,243 (GRCm39)		probably benign	Het
Cnst	A	G	1: 179,432,162 (GRCm39)	E224G	probably damaging	Het
Ctdsp1	T	C	1: 74,433,884 (GRCm39)	L155P	probably damaging	Het
D5Ertd579e	C	T	5: 36,773,682 (GRCm39)	A238T	probably benign	Het
Dnah6	T	C	6: 73,121,752 (GRCm39)	Y1410C	probably damaging	Het
Fam186a	AGCCGCTGCCGCTGCCGCTGCCGC	AGCCGCTGCCGCTGCCGC	15: 99,844,107 (GRCm39)		probably benign	Het
Farp2	T	C	1: 93,488,910 (GRCm39)		probably null	Het
Galnt7	T	G	8: 57,985,729 (GRCm39)	D547A	probably damaging	Het
Gm1527	C	A	3: 28,956,440 (GRCm39)	D135E	probably damaging	Het
Grm5	T	C	7: 87,723,747 (GRCm39)	I679T	probably damaging	Het
Hectd4	C	A	5: 121,467,619 (GRCm39)	R2523S	possibly damaging	Het
Hps4	G	A	5: 112,525,905 (GRCm39)	S642N	possibly damaging	Het
Htr1f	A	T	16: 64,746,637 (GRCm39)	S218R	probably damaging	Het
Lrit1	G	A	14: 36,776,891 (GRCm39)	A4T	unknown	Het
Ly6f	G	T	15: 75,141,706 (GRCm39)	D50Y	probably damaging	Het
Mafg	GGTTCTTCAGTGT	GGT	11: 120,520,415 (GRCm39)		probably null	Het
Map2	T	A	1: 66,454,522 (GRCm39)	Y1137*	probably null	Het
Map4k3	C	A	17: 81,035,257 (GRCm39)	R21L	possibly damaging	Het
Mapk10	A	T	5: 103,186,442 (GRCm39)	V90D	probably damaging	Het
Mapkapk3	T	A	9: 107,136,067 (GRCm39)	E219V	probably damaging	Het
Mideas	T	C	12: 84,199,327 (GRCm39)	Y1040C	probably damaging	Het
Mos	T	G	4: 3,871,457 (GRCm39)	I120L	probably benign	Het
Mrgprb4	A	G	7: 47,848,679 (GRCm39)	V83A	probably benign	Het
Mrnip	A	G	11: 50,065,768 (GRCm39)	Q19R	probably damaging	Het
Myrip	T	C	9: 120,261,544 (GRCm39)	S386P	probably benign	Het
Mzt2	A	G	16: 15,666,568 (GRCm39)	W141R	probably benign	Het
Ncam1	A	G	9: 49,428,856 (GRCm39)	Y710H	probably damaging	Het
Nlrp9c	G	T	7: 26,081,837 (GRCm39)	L630I	probably benign	Het
Odad2	A	T	18: 7,294,527 (GRCm39)	S29T	probably benign	Het
Oplah	C	A	15: 76,189,876 (GRCm39)	G150C	probably benign	Het
Or4c11b	A	G	2: 88,625,016 (GRCm39)	T97A	probably benign	Het
Or51q1	A	T	7: 103,628,581 (GRCm39)	M61L	probably damaging	Het
Or52a20	G	A	7: 103,366,737 (GRCm39)	C312Y	probably benign	Het
Or6k2	A	G	1: 173,986,369 (GRCm39)	Q10R	probably benign	Het
Patl1	A	G	19: 11,908,973 (GRCm39)	K460R	probably damaging	Het
Pdgfrb	A	T	18: 61,179,100 (GRCm39)		probably null	Het
Phldb2	T	C	16: 45,680,757 (GRCm39)	I17V	probably benign	Het
Ppp3r1	A	G	11: 17,144,789 (GRCm39)	D134G	probably damaging	Het
Ppp4r4	C	T	12: 103,570,315 (GRCm39)	T763I	probably benign	Het
Prmt9	A	G	8: 78,276,358 (GRCm39)	D61G	probably benign	Het
Ptk2	T	C	15: 73,131,457 (GRCm39)	M589V	possibly damaging	Het
Rabl6	A	G	2: 25,486,446 (GRCm39)	W153R	probably benign	Het
Rb1cc1	A	G	1: 6,319,109 (GRCm39)	I843V		Het
Resf1	T	C	6: 149,230,368 (GRCm39)	V1138A	possibly damaging	Het
Rnf19b	A	G	4: 128,977,940 (GRCm39)	E719G		Het
Sart3	T	C	5: 113,892,410 (GRCm39)	D363G	possibly damaging	Het
Sgo2a	C	A	1: 58,037,283 (GRCm39)	D9E	possibly damaging	Het
Slc8b1	T	A	5: 120,668,416 (GRCm39)	Y483N	probably damaging	Het
Slco1b2	A	G	6: 141,617,974 (GRCm39)	T475A	probably damaging	Het
Slfn3	T	C	11: 83,103,458 (GRCm39)	F110L	probably benign	Het
Spata31e5	T	C	1: 28,815,975 (GRCm39)	I686V	probably benign	Het
Ssr2	T	A	3: 88,495,269 (GRCm39)	Y175N	probably damaging	Het
Tagap	A	T	17: 8,150,280 (GRCm39)	N222Y	probably damaging	Het
Tecta	C	T	9: 42,278,479 (GRCm39)	V1010M	probably benign	Het
Trim36	A	T	18: 46,300,664 (GRCm39)	I669N	possibly damaging	Het
Ubp1	A	G	9: 113,799,319 (GRCm39)	T425A	probably benign	Het
Usp47	T	C	7: 111,681,713 (GRCm39)	I508T	probably damaging	Het
Vit	G	A	17: 78,934,278 (GRCm39)	D627N	probably damaging	Het
Vmn2r59	A	T	7: 41,695,884 (GRCm39)	I176N	probably benign	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
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'- ACCCTGTTTGTCCCTCAGAG -3'
(R):5'- AGAGTTCCTAGCCATACCCTAC -3'

Sequencing Primer
(F):5'- CAGAGGCTCTGCTGTCTCTATG -3'
(R):5'- GATGTCCCTGCAGCAACCAG -3'

Posted On

2021-12-30