Mutagenetix > Incidental Mutation

Incidental Mutation 'R1519:Slc27a5'

167274

Institutional Source

Beutler Lab

Gene Symbol

Slc27a5

Ensembl Gene

ENSMUSG00000030382

Gene Name

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

Synonyms

VLCSH2, FATP5, FACVL3, VLCS-H2

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.108) question?

Stock #

R1519 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

12988346-12998192 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 12988459 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000112495 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032539] [ENSMUST00000045810] [ENSMUST00000108536] [ENSMUST00000120903]

AlphaFold

Q4LDG0

Predicted Effect

probably benign
Transcript: ENSMUST00000032539

SMART Domains

Protein: ENSMUSP00000032539
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	557	1.3e-64	PFAM
Pfam:AMP-binding_C	565	641	1.4e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000045810

SMART Domains

Protein: ENSMUSP00000039073
Gene: ENSMUSG00000033961

Domain	Start	End	E-Value	Type
low complexity region	67	79	N/A	INTRINSIC
SCAN	122	234	1.29e-53	SMART
KRAB	299	360	3.96e-2	SMART
ZnF_C2H2	419	441	2.95e-3	SMART
ZnF_C2H2	468	490	8.47e-4	SMART
ZnF_C2H2	496	518	5.34e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108536

SMART Domains

Protein: ENSMUSP00000104176
Gene: ENSMUSG00000033961

Domain	Start	End	E-Value	Type
SCAN	22	134	1.29e-53	SMART
KRAB	199	260	3.96e-2	SMART
ZnF_C2H2	319	341	2.95e-3	SMART
ZnF_C2H2	368	390	8.47e-4	SMART
ZnF_C2H2	396	418	5.34e-1	SMART

Predicted Effect

probably null
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

noncoding transcript
Transcript: ENSMUST00000128427

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129268
AA Change: K144E

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: 96.4%
20x: 92.9%

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	C	G	10: 100,603,528	P187R	probably damaging	Het
9230019H11Rik	A	G	10: 3,125,230		noncoding transcript	Het
9530077C05Rik	T	G	9: 22,430,375	L114R	probably benign	Het
Abhd5	T	C	9: 122,379,014		probably null	Het
Acadvl	A	G	11: 70,014,791		probably null	Het
Actn1	T	C	12: 80,205,078	E75G	probably damaging	Het
Adam4	A	T	12: 81,420,877	N323K	possibly damaging	Het
Anks6	G	A	4: 47,027,152	R689W	probably damaging	Het
Anxa2	T	C	9: 69,485,241	I124T	probably damaging	Het
Aph1c	T	C	9: 66,833,265	T10A	probably benign	Het
Arhgap40	T	A	2: 158,546,801	W552R	probably benign	Het
Baz2b	C	T	2: 59,948,254	R754H	possibly damaging	Het
Blmh	A	G	11: 76,966,781	Y147C	probably damaging	Het
C1galt1	C	T	6: 7,866,402	L83F	probably damaging	Het
Cd163l1	G	A	7: 140,228,156	V747I	probably benign	Het
Cdh23	A	T	10: 60,379,343	Y1403N	possibly damaging	Het
Cic	A	T	7: 25,293,810		probably null	Het
Coro1b	T	A	19: 4,150,584	V200D	possibly damaging	Het
Csl	T	A	10: 99,757,955	E416V	probably damaging	Het
Cyp3a25	A	G	5: 146,001,447		probably null	Het
Dennd2d	T	A	3: 106,492,559	F266Y	probably damaging	Het
Dnah10	A	G	5: 124,760,952	E1072G	probably damaging	Het
Dnah6	T	A	6: 73,049,048	K3435N	probably damaging	Het
Dnah9	G	A	11: 65,881,761	A3715V	probably damaging	Het
Fam186a	G	A	15: 99,947,655	S236L	unknown	Het
Fam198b	A	G	3: 79,941,464	N506D	possibly damaging	Het
Frs3	A	G	17: 47,702,978	T199A	probably benign	Het
Fsd1	A	G	17: 55,993,870	N243S	probably benign	Het
Gabra5	A	C	7: 57,408,893	L369R	probably benign	Het
Gins4	A	G	8: 23,234,776	V54A	probably benign	Het
Gli1	T	C	10: 127,334,269	E339G	possibly damaging	Het
Gm12185	A	G	11: 48,907,767	V633A	probably damaging	Het
Gm8251	A	G	1: 44,056,970	V1656A	probably benign	Het
Gm8765	G	A	13: 50,700,407		probably null	Het
Gpr83	T	A	9: 14,868,197	C182S	probably null	Het
Gspt1	A	G	16: 11,220,855	V627A	probably damaging	Het
Heatr1	T	C	13: 12,412,159	C722R	probably benign	Het
Jak1	C	T	4: 101,162,922	R680Q	probably damaging	Het
Kif2c	A	G	4: 117,169,940	V287A	probably damaging	Het
Kmo	C	T	1: 175,651,618	P240L	possibly damaging	Het
Kmo	A	G	1: 175,656,802	E366G	probably damaging	Het
Lepr	A	T	4: 101,789,344	N824I	probably damaging	Het
Lyrm7	T	A	11: 54,848,599	H75L	possibly damaging	Het
Map4k1	A	T	7: 28,991,036	Q351L	probably benign	Het
Mgam	T	C	6: 40,661,683	I450T	probably benign	Het
Nbeal2	A	G	9: 110,636,305	L955P	probably damaging	Het
Nlrp9c	T	C	7: 26,378,101	K752R	possibly damaging	Het
Nsmaf	A	T	4: 6,438,062	I70K	probably benign	Het
Olfr201	C	T	16: 59,268,944	C241Y	probably damaging	Het
Olfr298	A	G	7: 86,489,125	M142T	probably damaging	Het
Otud7a	A	G	7: 63,758,643	Y898C	probably damaging	Het
Pcdhb18	A	C	18: 37,490,892	D425A	probably damaging	Het
Prdm1	A	T	10: 44,439,986	L733*	probably null	Het
Prdm2	A	T	4: 143,135,583	I379N	probably damaging	Het
Ptprg	A	T	14: 12,220,596	Y436F	probably damaging	Het
Riok3	A	G	18: 12,137,306	D167G	probably damaging	Het
Rnf215	G	T	11: 4,135,451	R60L	probably damaging	Het
Sdk1	A	T	5: 141,999,950	H779L	probably benign	Het
Serpine2	A	G	1: 79,795,031	F390L	probably damaging	Het
Sh3d21	T	A	4: 126,151,726	K387*	probably null	Het
Slc13a2	T	C	11: 78,397,746	Y568C	possibly damaging	Het
Slc32a1	T	C	2: 158,614,577	L384P	probably damaging	Het
Sorcs1	T	C	19: 50,252,587	N454D	probably benign	Het
Spag8	T	C	4: 43,652,777	Y228C	possibly damaging	Het
Spc25	T	C	2: 69,200,087	I71V	probably damaging	Het
Tcte1	T	A	17: 45,535,252	F261I	probably damaging	Het
Thsd7a	T	A	6: 12,471,175	K481N	probably benign	Het
Tll2	G	T	19: 41,086,400	N908K	probably benign	Het
Tmem236	T	C	2: 14,192,280	V93A	probably benign	Het
Top2b	G	A	14: 16,408,953		probably null	Het
Topaz1	G	A	9: 122,767,011	S949N	probably benign	Het
Triobp	A	G	15: 78,973,738	T1180A	probably benign	Het
Trip11	A	C	12: 101,886,160	D548E	probably benign	Het
Trpv2	T	A	11: 62,589,826		probably null	Het
Vmn1r12	T	A	6: 57,159,555	H212Q	probably damaging	Het
Vmn2r112	A	G	17: 22,618,903	T782A	possibly damaging	Het
Vmn2r7	A	G	3: 64,716,455	V239A	possibly damaging	Het
Vmn2r80	T	A	10: 79,194,219	N626K	probably damaging	Het
Vmn2r99	A	G	17: 19,380,060	S449G	probably benign	Het
Wfikkn2	T	C	11: 94,238,107	T403A	probably benign	Het
Xirp2	A	G	2: 67,515,679	I2755V	probably benign	Het
Yjefn3	A	G	8: 69,889,079	V153A	probably benign	Het
Zfp677	C	A	17: 21,397,237	H185Q	possibly damaging	Het
Zfp947	C	T	17: 22,146,292	V134I	probably benign	Het

Other mutations in Slc27a5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00592:Slc27a5	APN	7	12988639	missense	probably benign	0.08
IGL00906:Slc27a5	APN	7	12991057	missense	probably benign	0.00
IGL01067:Slc27a5	APN	7	12989072	missense	probably damaging	1.00
IGL02101:Slc27a5	APN	7	12993343	missense	possibly damaging	0.95
IGL02148:Slc27a5	APN	7	12994951	missense	probably damaging	0.97
IGL02165:Slc27a5	APN	7	12994948	missense	probably damaging	0.99
IGL02324:Slc27a5	APN	7	12997560	missense	probably benign	0.00
IGL02879:Slc27a5	APN	7	12995044	splice site	probably benign
R1662:Slc27a5	UTSW	7	12991246	missense	probably damaging	1.00
R1774:Slc27a5	UTSW	7	12997607	nonsense	probably null
R2012:Slc27a5	UTSW	7	12997707	missense	probably damaging	0.98
R2020:Slc27a5	UTSW	7	12993412	missense	probably damaging	1.00
R2886:Slc27a5	UTSW	7	12989560	unclassified	probably benign
R4234:Slc27a5	UTSW	7	12988443	missense	probably benign	0.01
R4855:Slc27a5	UTSW	7	12988633	missense	probably benign	0.00
R5126:Slc27a5	UTSW	7	12991320	missense	probably damaging	1.00
R5450:Slc27a5	UTSW	7	12994942	missense	probably benign	0.04
R5712:Slc27a5	UTSW	7	12998083	unclassified	probably benign
R6302:Slc27a5	UTSW	7	12988552	missense	probably damaging	1.00
R6346:Slc27a5	UTSW	7	12990972	missense	possibly damaging	0.75
R6866:Slc27a5	UTSW	7	12997516	missense	probably benign	0.00
R6921:Slc27a5	UTSW	7	12991208	missense	probably damaging	1.00
R7329:Slc27a5	UTSW	7	12991162	missense	possibly damaging	0.75
R8017:Slc27a5	UTSW	7	12989402	missense	probably damaging	1.00
R8019:Slc27a5	UTSW	7	12989402	missense	probably damaging	1.00
R8312:Slc27a5	UTSW	7	12991287	missense	probably damaging	1.00
R8793:Slc27a5	UTSW	7	12989369	missense	probably benign	0.16
R8966:Slc27a5	UTSW	7	12991163	missense	probably benign	0.00
R8980:Slc27a5	UTSW	7	12991163	missense	probably benign	0.00
R9066:Slc27a5	UTSW	7	12988603	missense	possibly damaging	0.64
R9106:Slc27a5	UTSW	7	12991170	missense	probably benign	0.21
R9191:Slc27a5	UTSW	7	12991320	missense	probably damaging	1.00
R9275:Slc27a5	UTSW	7	12997713	missense	probably damaging	1.00
Z1177:Slc27a5	UTSW	7	12988855	missense	probably damaging	1.00

Predicted Primers

Posted On

2014-04-13