Mutagenetix > Incidental Mutation

Incidental Mutation 'R6866:Slc27a5'

535917

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

044965-MU

Accession Numbers

Essential gene?

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

Stock #

R6866 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

12722273-12732119 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 12731443 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 183 (T183S)

Ref Sequence

ENSEMBL: ENSMUSP00000112495 (fasta)

Gene Model

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

AlphaFold

Q4LDG0

Predicted Effect

probably benign
Transcript: ENSMUST00000032539
AA Change: T183S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000032539
Gene: ENSMUSG00000030382
AA Change: T183S

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
AA Change: T183S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000112495
Gene: ENSMUSG00000030382
AA Change: T183S

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

SMART Domains

Protein: ENSMUSP00000117208
Gene: ENSMUSG00000030382
AA Change: T54S

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: 99.3%
20x: 97.7%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alms1	A	G	6: 85,598,080 (GRCm39)	T1438A	possibly damaging	Het
Als2	T	A	1: 59,250,292 (GRCm39)	Q484L	probably damaging	Het
Apeh	G	A	9: 107,969,878 (GRCm39)	H186Y	probably damaging	Het
Bcl2l13	T	A	6: 120,839,850 (GRCm39)	N49K	probably benign	Het
Bptf	T	C	11: 106,964,406 (GRCm39)	D1596G	probably damaging	Het
Brsk1	T	C	7: 4,709,406 (GRCm39)	M325T	probably damaging	Het
Caly	T	C	7: 139,650,532 (GRCm39)	M137V	probably benign	Het
Cdca2	T	C	14: 67,931,115 (GRCm39)	E526G	possibly damaging	Het
Cnga4	A	G	7: 105,056,952 (GRCm39)	S352G	possibly damaging	Het
Cntnap5c	A	C	17: 58,399,289 (GRCm39)	T381P	probably benign	Het
Cr2	T	A	1: 194,833,999 (GRCm39)	Y633F	probably damaging	Het
Cryba1	T	C	11: 77,610,355 (GRCm39)	N120S	probably benign	Het
Cyfip2	G	A	11: 46,133,286 (GRCm39)	R805*	probably null	Het
Dnah7c	C	A	1: 46,696,403 (GRCm39)	P2095Q	probably damaging	Het
Eif3k	T	C	7: 28,676,651 (GRCm39)	E110G	possibly damaging	Het
Extl2	T	A	3: 115,821,002 (GRCm39)	M283K	probably damaging	Het
Extl2	A	G	3: 115,821,001 (GRCm39)	M283V	probably damaging	Het
Focad	T	C	4: 88,321,623 (GRCm39)	I1658T	probably benign	Het
Fstl5	A	T	3: 76,229,532 (GRCm39)	H111L	probably damaging	Het
Garnl3	A	G	2: 32,892,785 (GRCm39)		probably null	Het
Gm3633	T	A	14: 42,462,579 (GRCm39)		probably benign	Het
Il4i1	T	A	7: 44,485,963 (GRCm39)		probably null	Het
Kcnj6	A	T	16: 94,563,536 (GRCm39)	C321S	probably damaging	Het
Kif20a	A	T	18: 34,761,546 (GRCm39)	Y313F	probably benign	Het
Kmt2d	T	G	15: 98,755,274 (GRCm39)		probably benign	Het
Kynu	T	A	2: 43,453,122 (GRCm39)	Y48*	probably null	Het
Ly9	T	C	1: 171,432,847 (GRCm39)	I55M	probably damaging	Het
Mgme1	T	C	2: 144,118,439 (GRCm39)	V237A	probably damaging	Het
Mmp16	T	A	4: 17,853,800 (GRCm39)	L27H	probably benign	Het
Mtres1	ACTGCACCACCT	ACT	10: 43,408,721 (GRCm39)		probably benign	Het
Myh1	A	C	11: 67,115,219 (GRCm39)	D1918A	probably damaging	Het
Myo5a	G	A	9: 75,047,970 (GRCm39)	C266Y	probably damaging	Het
Nckap5l	A	G	15: 99,324,349 (GRCm39)	I718T	probably benign	Het
Nptx1	A	G	11: 119,437,476 (GRCm39)		probably null	Het
Or56a42-ps1	T	A	7: 104,775,825 (GRCm39)	M228L	probably benign	Het
Or5k16	A	G	16: 58,736,351 (GRCm39)	Y218H	probably damaging	Het
Or5p76	A	G	7: 108,122,377 (GRCm39)	F260S	probably damaging	Het
Phc3	T	A	3: 30,968,680 (GRCm39)	K783*	probably null	Het
Pkdrej	A	T	15: 85,705,082 (GRCm39)	C285S	probably damaging	Het
Pot1b	T	A	17: 55,960,474 (GRCm39)	T619S	possibly damaging	Het
Pramel32	T	A	4: 88,545,977 (GRCm39)	D455V	probably damaging	Het
Psg21	A	T	7: 18,386,209 (GRCm39)	V259E	probably damaging	Het
Pvr	A	C	7: 19,652,555 (GRCm39)	I120S	probably benign	Het
Rbm17	T	G	2: 11,602,901 (GRCm39)	I68L	probably benign	Het
Rnf138	C	T	18: 21,135,199 (GRCm39)	P28L	probably damaging	Het
Rnf207	C	T	4: 152,396,989 (GRCm39)	C385Y	possibly damaging	Het
Serping1	A	C	2: 84,600,577 (GRCm39)	V255G	probably benign	Het
Slc25a3	A	T	10: 90,955,567 (GRCm39)	V91E	probably damaging	Het
Slc26a8	T	C	17: 28,857,455 (GRCm39)	D896G	probably benign	Het
Slc33a1	A	T	3: 63,850,744 (GRCm39)	F527I	probably benign	Het
Sting1	T	C	18: 35,872,482 (GRCm39)	H50R	probably damaging	Het
Strn4	A	T	7: 16,562,710 (GRCm39)	D283V	probably damaging	Het
Sult1e1	G	A	5: 87,734,625 (GRCm39)	T107I	probably damaging	Het
Tango6	G	A	8: 107,469,104 (GRCm39)		probably null	Het
Tecrl	G	T	5: 83,461,161 (GRCm39)	P99T	probably damaging	Het
Ticrr	T	C	7: 79,343,705 (GRCm39)	L1190P	possibly damaging	Het
Timm50	C	T	7: 28,005,370 (GRCm39)	R349H	probably damaging	Het
Tjp2	A	G	19: 24,079,355 (GRCm39)	I840T	probably damaging	Het
Tmem45a2	T	A	16: 56,867,386 (GRCm39)	N105I	probably damaging	Het
Tsbp1	T	A	17: 34,678,935 (GRCm39)	C216S	possibly damaging	Het
Zfp148	T	A	16: 33,288,496 (GRCm39)	C162S	probably damaging	Het
Zfp534	T	C	4: 147,758,938 (GRCm39)	K577R	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
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'- GAAACGTCTGACTTCCCTTGC -3'
(R):5'- CTCCAGAGACCTTTGTGGATGC -3'

Sequencing Primer
(F):5'- ACGTCTGACTTCCCTTGCTTCTG -3'
(R):5'- CCAGAGACCTTTGTGGATGCTTTAG -3'

Posted On

2018-10-18