Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00158:Slc27a1'

1386

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc27a1

Ensembl Gene

ENSMUSG00000031808

Gene Name

solute carrier family 27 (fatty acid transporter), member 1

Synonyms

FATP1, Fatp

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.101) question?

Stock #

IGL00158

Quality Score

Status

Chromosome

Chromosomal Location

72021526-72039946 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 72037416 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000148768 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034267] [ENSMUST00000212111] [ENSMUST00000212889]

AlphaFold

Q60714

Predicted Effect

probably null
Transcript: ENSMUST00000034267

SMART Domains

Protein: ENSMUSP00000034267
Gene: ENSMUSG00000031808

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
low complexity region	58	73	N/A	INTRINSIC
Pfam:AMP-binding	82	515	2.1e-71	PFAM
Pfam:AMP-binding_C	523	598	2.9e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211811

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211886

Predicted Effect

probably benign
Transcript: ENSMUST00000212111

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212211

Predicted Effect

probably null
Transcript: ENSMUST00000212889

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous null mutants are protected from fat-induced insulin resistance and intramuscular accumulation of fatty acid metabolites without alterations in whole body adiposity. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd3	T	A	18: 10,647,869 (GRCm39)	D300V	possibly damaging	Het
Agap1	A	G	1: 89,591,518 (GRCm39)		probably benign	Het
Best3	A	G	10: 116,840,446 (GRCm39)		probably benign	Het
Cfap43	T	G	19: 47,818,914 (GRCm39)	I125L	probably benign	Het
Cntn1	A	G	15: 92,148,758 (GRCm39)	E335G	possibly damaging	Het
Csmd3	A	T	15: 48,150,891 (GRCm39)	S396T	possibly damaging	Het
Cxxc5	T	G	18: 35,993,745 (GRCm39)	*318G	probably null	Het
Dpep3	T	C	8: 106,705,779 (GRCm39)	T49A	probably benign	Het
Elf1	T	A	14: 79,817,789 (GRCm39)	M436K	possibly damaging	Het
Ephx2	T	G	14: 66,330,286 (GRCm39)	I310L	probably benign	Het
Fancm	A	G	12: 65,122,510 (GRCm39)	T11A	possibly damaging	Het
Ganab	G	T	19: 8,879,959 (GRCm39)	A73S	probably benign	Het
Glp1r	T	G	17: 31,120,891 (GRCm39)	L14R	possibly damaging	Het
Kif14	G	A	1: 136,396,756 (GRCm39)	S354N	probably benign	Het
Krtap9-1	C	T	11: 99,764,680 (GRCm39)	P139S	unknown	Het
L2hgdh	T	C	12: 69,748,208 (GRCm39)	D306G	possibly damaging	Het
Liat1	T	C	11: 75,894,192 (GRCm39)	S190P	probably benign	Het
Lrriq4	A	G	3: 30,705,104 (GRCm39)		probably null	Het
Mbd3	T	G	10: 80,229,717 (GRCm39)		probably benign	Het
Men1	G	A	19: 6,387,237 (GRCm39)		probably null	Het
Mug1	T	C	6: 121,842,768 (GRCm39)	S585P	probably damaging	Het
Nat8f4	C	A	6: 85,877,969 (GRCm39)	A185S	probably benign	Het
Nlrc5	C	T	8: 95,228,839 (GRCm39)		probably benign	Het
Or8b12	T	A	9: 37,657,685 (GRCm39)	I85N	possibly damaging	Het
Or8g23	T	A	9: 38,971,159 (GRCm39)	M268L	probably benign	Het
Peg3	T	A	7: 6,713,273 (GRCm39)	I650F	probably benign	Het
Prom1	A	T	5: 44,213,279 (GRCm39)	N142K	probably damaging	Het
Qser1	T	A	2: 104,596,401 (GRCm39)	D1537V	probably damaging	Het
Rbm44	T	A	1: 91,084,831 (GRCm39)	D684E	probably benign	Het
Rnf19a	A	C	15: 36,265,948 (GRCm39)	S50A	probably damaging	Het
Rnf31	A	G	14: 55,829,776 (GRCm39)		probably null	Het
Rspry1	A	G	8: 95,349,614 (GRCm39)	M1V	probably null	Het
Rspry1	A	T	8: 95,349,608 (GRCm39)		probably benign	Het
Sap130	C	A	18: 31,831,819 (GRCm39)	P769T	probably benign	Het
Slc22a16	T	A	10: 40,471,278 (GRCm39)	M483K	probably damaging	Het
Slc35a5	A	T	16: 44,972,971 (GRCm39)	C65*	probably null	Het
Sox4	C	A	13: 29,136,956 (GRCm39)	G17W	probably damaging	Het
Ubqlnl	T	C	7: 103,798,372 (GRCm39)	E375G	probably benign	Het
Uggt2	G	A	14: 119,286,688 (GRCm39)	T692I	possibly damaging	Het
Vmn1r211	A	T	13: 23,036,272 (GRCm39)	C132S	probably benign	Het
Vmn2r61	A	T	7: 41,950,175 (GRCm39)	N865I	possibly damaging	Het
Vmn2r73	A	T	7: 85,506,795 (GRCm39)	M839K		Het
Xrn2	T	A	2: 146,878,670 (GRCm39)	S455R	probably benign	Het
Zan	T	A	5: 137,452,519 (GRCm39)	T1521S	unknown	Het
Zfp326	A	G	5: 106,054,911 (GRCm39)	M361V	possibly damaging	Het
Zfp472	A	G	17: 33,196,498 (GRCm39)	Y191C	possibly damaging	Het

Other mutations in Slc27a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02974:Slc27a1	APN	8	72,036,847 (GRCm39)	missense	probably damaging	0.99
IGL03371:Slc27a1	APN	8	72,038,052 (GRCm39)	missense	probably benign	0.20
R0178:Slc27a1	UTSW	8	72,037,106 (GRCm39)	missense	possibly damaging	0.91
R0508:Slc27a1	UTSW	8	72,032,872 (GRCm39)	unclassified	probably benign
R0600:Slc27a1	UTSW	8	72,036,808 (GRCm39)	missense	probably damaging	1.00
R1169:Slc27a1	UTSW	8	72,033,297 (GRCm39)	missense	probably benign	0.01
R1445:Slc27a1	UTSW	8	72,036,757 (GRCm39)	splice site	probably null
R1708:Slc27a1	UTSW	8	72,037,274 (GRCm39)	splice site	probably null
R1737:Slc27a1	UTSW	8	72,023,504 (GRCm39)	missense	probably benign	0.05
R1850:Slc27a1	UTSW	8	72,033,347 (GRCm39)	critical splice donor site	probably null
R2419:Slc27a1	UTSW	8	72,032,560 (GRCm39)	missense	possibly damaging	0.81
R3817:Slc27a1	UTSW	8	72,037,122 (GRCm39)	missense	probably damaging	1.00
R3967:Slc27a1	UTSW	8	72,032,431 (GRCm39)	missense	probably damaging	1.00
R4243:Slc27a1	UTSW	8	72,037,617 (GRCm39)	missense	probably benign	0.00
R4244:Slc27a1	UTSW	8	72,037,617 (GRCm39)	missense	probably benign	0.00
R4552:Slc27a1	UTSW	8	72,032,710 (GRCm39)	splice site	probably null
R4649:Slc27a1	UTSW	8	72,023,408 (GRCm39)	missense	probably benign	0.11
R4748:Slc27a1	UTSW	8	72,033,453 (GRCm39)	missense	possibly damaging	0.94
R4748:Slc27a1	UTSW	8	72,033,319 (GRCm39)	missense	probably damaging	0.97
R5273:Slc27a1	UTSW	8	72,036,900 (GRCm39)	missense	probably benign	0.07
R5913:Slc27a1	UTSW	8	72,036,907 (GRCm39)	missense	probably benign	0.31
R6958:Slc27a1	UTSW	8	72,038,083 (GRCm39)	missense	possibly damaging	0.49
R7198:Slc27a1	UTSW	8	72,032,071 (GRCm39)	missense	possibly damaging	0.94
R7212:Slc27a1	UTSW	8	72,037,092 (GRCm39)	missense	probably damaging	1.00
R8210:Slc27a1	UTSW	8	72,032,566 (GRCm39)	missense	probably benign	0.01
R8822:Slc27a1	UTSW	8	72,033,308 (GRCm39)	missense	probably damaging	1.00
R9451:Slc27a1	UTSW	8	72,032,808 (GRCm39)	nonsense	probably null

Posted On

2011-07-12