Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01982:Slc27a4'

182760

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc27a4

Ensembl Gene

ENSMUSG00000059316

Gene Name

solute carrier family 27 (fatty acid transporter), member 4

Synonyms

fatty acid transport protein 4, FATP4

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01982

Quality Score

Status

Chromosome

Chromosomal Location

29692646-29707534 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 29702627 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 509 (F509S)

Ref Sequence

ENSEMBL: ENSMUSP00000078971 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080065]

AlphaFold

Q91VE0

Predicted Effect

probably damaging
Transcript: ENSMUST00000080065
AA Change: F509S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000078971
Gene: ENSMUSG00000059316
AA Change: F509S

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
Pfam:AMP-binding	80	512	1.2e-72	PFAM
Pfam:AMP-binding_C	520	595	2.3e-10	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136444

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 a family of fatty acid transport proteins, which are involved in translocation of long-chain fatty acids cross the plasma membrane. This protein is expressed at high levels on the apical side of mature enterocytes in the small intestine, and appears to be the principal fatty acid transporter in enterocytes. Clinical studies suggest this gene as a candidate gene for the insulin resistance syndrome. Mutations in this gene have been associated with ichthyosis prematurity syndrome. [provided by RefSeq, Apr 2010]
PHENOTYPE: Homozygous mutant mice are not viable. While mice of one mutant line die during early development, mice of other mutant lines die at birth exhibiting abnormal skin. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	C	1: 71,385,857 (GRCm39)	S254A	probably benign	Het
Abca7	T	G	10: 79,838,475 (GRCm39)	L583R	probably damaging	Het
Acp1	A	T	12: 30,961,491 (GRCm39)	L14H	possibly damaging	Het
Adar	A	G	3: 89,645,397 (GRCm39)	I3V	probably benign	Het
Adh4	C	T	3: 138,134,788 (GRCm39)		probably benign	Het
Aldh1l1	A	G	6: 90,536,845 (GRCm39)	I103V	probably benign	Het
Asic3	C	A	5: 24,622,719 (GRCm39)	T523N	probably benign	Het
Aspm	T	C	1: 139,419,326 (GRCm39)	V1732A	probably benign	Het
Atad3a	C	T	4: 155,838,384 (GRCm39)	R211Q	possibly damaging	Het
Bahcc1	A	G	11: 120,178,299 (GRCm39)	Y2286C	probably damaging	Het
BC034090	T	C	1: 155,099,078 (GRCm39)	E569G	probably damaging	Het
Bpifb3	A	G	2: 153,767,521 (GRCm39)	N237S	probably benign	Het
Bysl	C	A	17: 47,921,996 (GRCm39)		probably null	Het
C2cd6	T	C	1: 59,106,932 (GRCm39)		probably benign	Het
Ccdc141	A	G	2: 76,861,003 (GRCm39)	F925L	probably damaging	Het
Cdca2	A	T	14: 67,915,168 (GRCm39)	V697E	probably damaging	Het
Cers1	A	G	8: 70,776,081 (GRCm39)	D324G	probably damaging	Het
Ctsq	T	A	13: 61,186,732 (GRCm39)	I91F	probably benign	Het
Ctsq	C	T	13: 61,187,335 (GRCm39)	C11Y	probably benign	Het
Cyp11b1	T	C	15: 74,711,252 (GRCm39)	N142S	possibly damaging	Het
Cyp3a59	G	T	5: 146,041,545 (GRCm39)	S363I	probably benign	Het
Eps15l1	A	T	8: 73,132,919 (GRCm39)	D567E	probably benign	Het
Esf1	G	A	2: 140,006,448 (GRCm39)	A233V	probably benign	Het
Fras1	A	T	5: 96,887,107 (GRCm39)	I2630F	possibly damaging	Het
Fyb1	A	T	15: 6,609,658 (GRCm39)	E77V	probably null	Het
Gjb6	C	A	14: 57,362,030 (GRCm39)	W77L	probably damaging	Het
Gm21983	A	G	7: 26,879,703 (GRCm39)	V88A	possibly damaging	Het
Gm8247	A	G	14: 44,823,088 (GRCm39)	T52A	probably damaging	Het
Gpr108	T	C	17: 57,544,877 (GRCm39)	K329E	probably damaging	Het
Gpr141	T	A	13: 19,935,908 (GRCm39)	H289L	probably benign	Het
Ilvbl	T	C	10: 78,414,856 (GRCm39)	Y240H	probably damaging	Het
Kntc1	G	A	5: 123,947,159 (GRCm39)	A1868T	probably benign	Het
Lrmda	A	C	14: 22,634,550 (GRCm39)	N112T	probably damaging	Het
Ly75	T	C	2: 60,142,108 (GRCm39)	Y1334C	probably damaging	Het
Macc1	C	A	12: 119,409,369 (GRCm39)	P46T	probably benign	Het
Madd	A	T	2: 91,006,052 (GRCm39)	F381Y	probably damaging	Het
Map3k20	C	T	2: 72,128,677 (GRCm39)	Q38*	probably null	Het
Mcm4	A	T	16: 15,448,284 (GRCm39)	D424E	possibly damaging	Het
Micu1	T	A	10: 59,699,100 (GRCm39)	M463K	possibly damaging	Het
Mkrn2os	A	G	6: 115,562,492 (GRCm39)	L157P	probably damaging	Het
Nectin2	A	G	7: 19,451,487 (GRCm39)	S516P	probably damaging	Het
Nme5	T	A	18: 34,702,928 (GRCm39)	D120V	probably damaging	Het
Npy4r	T	C	14: 33,869,282 (GRCm39)	N2S	possibly damaging	Het
Nup107	A	T	10: 117,595,245 (GRCm39)		probably benign	Het
Omd	T	C	13: 49,742,973 (GRCm39)	Y8H	possibly damaging	Het
Phf8-ps	T	G	17: 33,285,289 (GRCm39)	E504D	probably benign	Het
Ppp1r15a	T	C	7: 45,173,803 (GRCm39)		probably benign	Het
Ppp2ca	T	C	11: 51,989,891 (GRCm39)	F6L	probably benign	Het
Rab1a	T	C	11: 20,174,717 (GRCm39)	S97P	probably benign	Het
Ranbp3l	G	A	15: 9,058,827 (GRCm39)	G359R	probably damaging	Het
Rnf213	A	T	11: 119,334,094 (GRCm39)	H3101L	probably damaging	Het
Slco4a1	T	C	2: 180,114,946 (GRCm39)	V623A	probably benign	Het
Spart	T	A	3: 55,035,911 (GRCm39)		probably null	Het
Sptan1	A	G	2: 29,909,980 (GRCm39)	D1780G	probably damaging	Het
Tgm7	G	T	2: 120,924,106 (GRCm39)	Y605*	probably null	Het
Tmem106b	T	C	6: 13,071,968 (GRCm39)		probably benign	Het
Trak2	G	A	1: 58,965,814 (GRCm39)	A120V	possibly damaging	Het
Trappc8	G	A	18: 21,007,769 (GRCm39)		probably benign	Het
Trim66	T	C	7: 109,057,970 (GRCm39)	T973A	probably benign	Het
Ttyh3	C	A	5: 140,621,829 (GRCm39)		probably benign	Het
Ugt2b37	A	C	5: 87,390,291 (GRCm39)	I385S	probably damaging	Het
Usf3	A	G	16: 44,039,180 (GRCm39)	N1220S	possibly damaging	Het
Utrn	A	T	10: 12,623,773 (GRCm39)	I155N	probably damaging	Het
Vps13b	C	T	15: 35,439,050 (GRCm39)	Q377*	probably null	Het
Washc2	A	T	6: 116,213,150 (GRCm39)	E570D	probably benign	Het
Wscd1	T	C	11: 71,657,699 (GRCm39)	V168A	possibly damaging	Het
Zfp386	T	A	12: 116,022,788 (GRCm39)	C169S	probably benign	Het

Other mutations in Slc27a4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01132:Slc27a4	APN	2	29,694,314 (GRCm39)	missense	probably benign	0.03
IGL02160:Slc27a4	APN	2	29,695,974 (GRCm39)	missense	probably benign	0.04
IGL02290:Slc27a4	APN	2	29,705,741 (GRCm39)	missense	probably damaging	1.00
IGL02382:Slc27a4	APN	2	29,699,855 (GRCm39)	missense	probably damaging	1.00
IGL02738:Slc27a4	APN	2	29,701,238 (GRCm39)	missense	probably benign	0.15
R0470:Slc27a4	UTSW	2	29,694,197 (GRCm39)	missense	probably benign	0.10
R0688:Slc27a4	UTSW	2	29,702,627 (GRCm39)	missense	probably damaging	1.00
R0847:Slc27a4	UTSW	2	29,701,261 (GRCm39)	missense	probably benign	0.20
R1466:Slc27a4	UTSW	2	29,701,202 (GRCm39)	missense	probably damaging	0.99
R1466:Slc27a4	UTSW	2	29,701,202 (GRCm39)	missense	probably damaging	0.99
R1584:Slc27a4	UTSW	2	29,701,202 (GRCm39)	missense	probably damaging	0.99
R1793:Slc27a4	UTSW	2	29,695,733 (GRCm39)	missense	probably benign	0.00
R1804:Slc27a4	UTSW	2	29,701,279 (GRCm39)	missense	probably benign	0.01
R2056:Slc27a4	UTSW	2	29,700,953 (GRCm39)	missense	probably damaging	0.99
R4901:Slc27a4	UTSW	2	29,702,648 (GRCm39)	missense	probably damaging	1.00
R5601:Slc27a4	UTSW	2	29,695,672 (GRCm39)	missense	probably benign	0.30
R5663:Slc27a4	UTSW	2	29,702,382 (GRCm39)	missense	probably damaging	1.00
R5934:Slc27a4	UTSW	2	29,701,672 (GRCm39)	missense	probably damaging	0.96
R6196:Slc27a4	UTSW	2	29,695,762 (GRCm39)	missense	probably benign	0.00
R6643:Slc27a4	UTSW	2	29,702,860 (GRCm39)	missense	probably benign	0.01
R7033:Slc27a4	UTSW	2	29,694,283 (GRCm39)	missense	possibly damaging	0.94
R7176:Slc27a4	UTSW	2	29,701,238 (GRCm39)	missense	probably benign	0.15
R7179:Slc27a4	UTSW	2	29,705,664 (GRCm39)	nonsense	probably null
R7192:Slc27a4	UTSW	2	29,695,941 (GRCm39)	missense	probably damaging	1.00
R7301:Slc27a4	UTSW	2	29,702,944 (GRCm39)	missense	probably null	0.99
R7500:Slc27a4	UTSW	2	29,702,717 (GRCm39)	missense	probably damaging	0.99
R7810:Slc27a4	UTSW	2	29,695,722 (GRCm39)	missense	probably benign	0.25
R8042:Slc27a4	UTSW	2	29,701,202 (GRCm39)	missense	probably damaging	0.99
R9155:Slc27a4	UTSW	2	29,701,294 (GRCm39)	missense	probably damaging	0.99
R9505:Slc27a4	UTSW	2	29,701,608 (GRCm39)	missense	probably benign	0.44
R9658:Slc27a4	UTSW	2	29,701,301 (GRCm39)	missense	probably damaging	0.99

Posted On

2014-05-07