Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03118:Slc27a6'

409866

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc27a6

Ensembl Gene

ENSMUSG00000024600

Gene Name

solute carrier family 27 (fatty acid transporter), member 6

Synonyms

4732438L20Rik, FATP6

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.049) question?

Stock #

IGL03118

Quality Score

Status

Chromosome

Chromosomal Location

58556257-58612773 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 58556743 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 94 (H94N)

Ref Sequence

ENSEMBL: ENSMUSP00000025500 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025500]

Predicted Effect

probably benign
Transcript: ENSMUST00000025500
AA Change: H94N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000025500
Gene: ENSMUSG00000024600
AA Change: H94N

Domain	Start	End	E-Value	Type
low complexity region	13	23	N/A	INTRINSIC
Pfam:AMP-binding	60	487	5.3e-71	PFAM
Pfam:AMP-binding_C	495	571	2.6e-8	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the fatty acid transport protein family (FATP). FATPs are involved in the uptake of long-chain fatty acids and have unique expression patterns. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	G	A	17: 24,400,450	G921S	probably benign	Het
Abca8b	T	C	11: 109,947,181	T1082A	possibly damaging	Het
AF366264	C	T	8: 13,838,096		probably benign	Het
B9d2	T	C	7: 25,681,476		probably null	Het
Bfsp1	T	C	2: 143,827,333	E442G	possibly damaging	Het
Bpifb5	C	T	2: 154,236,753		probably benign	Het
Ccl1	A	G	11: 82,178,070	I47T	probably damaging	Het
Cln3	T	C	7: 126,575,397	I285V	probably null	Het
Cyp4a12b	G	T	4: 115,432,976	R242I	possibly damaging	Het
Dcc	T	C	18: 71,420,273	T771A	probably benign	Het
Erbb4	T	C	1: 68,042,719	D1052G	probably benign	Het
Fcnb	T	C	2: 28,076,618	N301S	probably benign	Het
Gm28043	A	C	17: 29,634,731	E403A	probably damaging	Het
Gria4	A	G	9: 4,793,804		probably benign	Het
Ighv5-12	T	A	12: 113,702,578	M1L	probably benign	Het
Il17rd	A	G	14: 27,093,395		probably null	Het
Kcnn3	T	A	3: 89,667,161	L660Q	probably damaging	Het
Lcor	C	T	19: 41,558,369	P131S	probably damaging	Het
Leng1	T	C	7: 3,665,410	N13S	probably damaging	Het
Loxhd1	T	C	18: 77,380,464	V827A	probably damaging	Het
Mapk13	A	G	17: 28,777,735	Y208C	probably benign	Het
Mybpc3	T	C	2: 91,124,503	V453A	probably damaging	Het
Odam	T	C	5: 87,885,754	S15P	unknown	Het
Olfr26	A	T	9: 38,855,230	H56L	probably damaging	Het
Olfr323	A	T	11: 58,625,443	V201D	probably damaging	Het
Pcdhb19	T	C	18: 37,499,565		probably benign	Het
Per2	G	T	1: 91,444,619	Y244*	probably null	Het
Pik3ca	A	T	3: 32,459,935	I857F	probably damaging	Het
Pold1	T	A	7: 44,539,400	I447F	probably benign	Het
Ppm1f	T	A	16: 16,914,078	W131R	probably null	Het
Ppp2r2c	A	G	5: 36,926,316	Y67C	probably damaging	Het
Psmb10	A	T	8: 105,936,900	H155Q	probably damaging	Het
Ptbp3	G	A	4: 59,501,470	A149V	probably benign	Het
Pygb	T	A	2: 150,820,811	V566E	probably benign	Het
Rictor	G	A	15: 6,759,518	R205Q	possibly damaging	Het
Ryr1	T	A	7: 29,015,786	R4638W	unknown	Het
Sept3	G	A	15: 82,284,514		probably null	Het
Serpina3b	A	T	12: 104,131,054	D198V	probably benign	Het
Taf2	C	T	15: 55,052,163	V456M	probably damaging	Het
Tbpl2	T	C	2: 24,087,289	E238G	probably benign	Het
Ttn	C	T	2: 76,754,207	V20440I	possibly damaging	Het
Zfp638	T	A	6: 83,935,018		probably benign	Het
Zfp865	T	C	7: 5,034,645		probably benign	Het

Other mutations in Slc27a6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01103:Slc27a6	APN	18	58556764	missense	probably benign
IGL01419:Slc27a6	APN	18	58609209	missense	probably benign	0.00
IGL01638:Slc27a6	APN	18	58607813	missense	probably damaging	1.00
IGL02067:Slc27a6	APN	18	58612191	missense	probably benign	0.00
IGL02612:Slc27a6	APN	18	58556905	missense	probably benign	0.00
R0096:Slc27a6	UTSW	18	58598757	splice site	probably benign
R0096:Slc27a6	UTSW	18	58598757	splice site	probably benign
R0255:Slc27a6	UTSW	18	58609865	missense	possibly damaging	0.69
R0449:Slc27a6	UTSW	18	58609165	splice site	probably null
R0599:Slc27a6	UTSW	18	58556813	missense	probably damaging	1.00
R0711:Slc27a6	UTSW	18	58598757	splice site	probably benign
R1082:Slc27a6	UTSW	18	58556560	missense	probably damaging	0.97
R1560:Slc27a6	UTSW	18	58579832	nonsense	probably null
R1942:Slc27a6	UTSW	18	58556798	missense	probably damaging	0.99
R2424:Slc27a6	UTSW	18	58605117	missense	probably benign	0.20
R3796:Slc27a6	UTSW	18	58598751	splice site	probably benign
R4718:Slc27a6	UTSW	18	58605066	missense	probably benign	0.03
R4803:Slc27a6	UTSW	18	58572033	missense	possibly damaging	0.59
R5714:Slc27a6	UTSW	18	58598553	missense	probably damaging	0.97
R5773:Slc27a6	UTSW	18	58582173	missense	probably damaging	1.00
R5996:Slc27a6	UTSW	18	58612234	missense	possibly damaging	0.89
R6049:Slc27a6	UTSW	18	58598660	missense	probably damaging	1.00
R6441:Slc27a6	UTSW	18	58572058	missense	probably benign	0.06
R6701:Slc27a6	UTSW	18	58579875	missense	probably benign	0.01
R6703:Slc27a6	UTSW	18	58609839	missense	probably benign	0.19
R6809:Slc27a6	UTSW	18	58605054	missense	probably benign	0.00
R7514:Slc27a6	UTSW	18	58612221	nonsense	probably null
R7536:Slc27a6	UTSW	18	58556626	missense	probably damaging	1.00
R7615:Slc27a6	UTSW	18	58609183	missense	probably damaging	1.00
R7808:Slc27a6	UTSW	18	58609195	missense	probably damaging	1.00
R8279:Slc27a6	UTSW	18	58572179	missense	probably benign	0.00

Posted On

2016-08-02