Mutagenetix > Incidental Mutation

Incidental Mutation 'R0470:Slc27a4'

41779

Institutional Source

Beutler Lab

Gene Symbol

Slc27a4

Ensembl Gene

ENSMUSG00000059316

Gene Name

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

Synonyms

fatty acid transport protein 4, FATP4

MMRRC Submission

038670-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0470 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

29692646-29707534 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 29694197 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 7 (L7Q)

Ref Sequence

ENSEMBL: ENSMUSP00000078971 (fasta)

Gene Model

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

AlphaFold

Q91VE0

Predicted Effect

probably benign
Transcript: ENSMUST00000080065
AA Change: L7Q

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000078971
Gene: ENSMUSG00000059316
AA Change: L7Q

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

Meta Mutation Damage Score

0.1177

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 93.0%

Validation Efficiency

98% (55/56)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	T	G	19: 8,986,331 (GRCm39)	D2538E	probably benign	Het
Akr1c13	T	A	13: 4,248,500 (GRCm39)	L235H	probably damaging	Het
Ank	G	A	15: 27,571,721 (GRCm39)	C331Y	probably damaging	Het
Ankrd12	T	C	17: 66,293,129 (GRCm39)	E768G	probably benign	Het
Atm	A	T	9: 53,372,266 (GRCm39)	V2172E	probably damaging	Het
Atp10b	T	A	11: 43,093,866 (GRCm39)	L470Q	possibly damaging	Het
Bcl2	G	A	1: 106,640,292 (GRCm39)	R107C	probably damaging	Het
Ccn4	A	G	15: 66,789,227 (GRCm39)	I238V	probably benign	Het
Cdadc1	A	T	14: 59,811,290 (GRCm39)		probably benign	Het
Cfhr2	A	T	1: 139,749,517 (GRCm39)	V155E	probably damaging	Het
Chp1	C	T	2: 119,391,244 (GRCm39)	R34C	probably damaging	Het
Cilp2	A	T	8: 70,338,055 (GRCm39)	V192E	possibly damaging	Het
Cyth1	T	C	11: 118,023,074 (GRCm39)		probably benign	Het
Dnah8	T	A	17: 30,927,514 (GRCm39)		probably benign	Het
Gja3	T	C	14: 57,273,884 (GRCm39)	T163A	probably damaging	Het
Gsdmcl1	C	T	15: 63,722,280 (GRCm39)		noncoding transcript	Het
Herc6	C	T	6: 57,596,437 (GRCm39)	T459M	probably damaging	Het
Hexb	A	G	13: 97,314,507 (GRCm39)	L412P	probably damaging	Het
Il17ra	T	G	6: 120,458,767 (GRCm39)	D639E	probably benign	Het
Kcnh5	G	A	12: 75,161,188 (GRCm39)	T240I	probably benign	Het
Lef1	T	C	3: 130,906,475 (GRCm39)		probably benign	Het
Lilrb4a	T	A	10: 51,370,923 (GRCm39)	N282K	possibly damaging	Het
Mbnl2	A	T	14: 120,642,062 (GRCm39)	H342L	probably damaging	Het
Minar2	C	T	18: 59,208,711 (GRCm39)	R120C	probably damaging	Het
Nipal3	A	G	4: 135,174,683 (GRCm39)	V356A	probably damaging	Het
Or2a54	C	G	6: 43,093,558 (GRCm39)	A294G	probably null	Het
Or51i1	A	T	7: 103,670,877 (GRCm39)	I216N	probably damaging	Het
Plekha6	G	A	1: 133,200,045 (GRCm39)	R208Q	probably benign	Het
Prkar1b	A	G	5: 139,036,504 (GRCm39)	I82T	probably damaging	Het
Prrc1	C	T	18: 57,496,469 (GRCm39)	T140M	probably damaging	Het
Psg22	A	C	7: 18,453,589 (GRCm39)	S95R	probably damaging	Het
Ptk6	T	C	2: 180,837,732 (GRCm39)	T396A	probably benign	Het
Ptov1	A	G	7: 44,514,235 (GRCm39)	S9P	probably damaging	Het
Scin	A	C	12: 40,123,291 (GRCm39)		probably benign	Het
Sec13	T	C	6: 113,717,593 (GRCm39)		probably benign	Het
Setd1a	G	A	7: 127,384,229 (GRCm39)		probably benign	Het
Sf3a2	G	A	10: 80,640,388 (GRCm39)		probably benign	Het
Shmt1	T	C	11: 60,683,789 (GRCm39)	Y341C	possibly damaging	Het
Slc41a2	T	C	10: 83,152,086 (GRCm39)	M130V	possibly damaging	Het
Sorcs3	T	C	19: 48,785,956 (GRCm39)		probably null	Het
Tex24	C	T	8: 27,834,936 (GRCm39)	R155*	probably null	Het
Tgfb1	T	A	7: 25,387,355 (GRCm39)		probably benign	Het
Tmc5	A	G	7: 118,239,154 (GRCm39)	D349G	possibly damaging	Het
Trappc13	C	T	13: 104,297,512 (GRCm39)	V131I	possibly damaging	Het
Trim66	A	G	7: 109,056,749 (GRCm39)		probably benign	Het
Tspoap1	T	C	11: 87,666,988 (GRCm39)	S1027P	probably damaging	Het
Usp34	C	T	11: 23,386,001 (GRCm39)	H2143Y	possibly damaging	Het
Vmn1r179	A	C	7: 23,627,818 (GRCm39)	Y3S	probably benign	Het
Vmn1r231	G	A	17: 21,110,265 (GRCm39)	Q217*	probably null	Het
Vmn1r62	T	A	7: 5,679,066 (GRCm39)	L249*	probably null	Het
Vmn1r71	G	C	7: 10,482,019 (GRCm39)	S223C	possibly damaging	Het
Vmn2r109	T	C	17: 20,773,148 (GRCm39)	Q491R	probably benign	Het
Vwf	G	A	6: 125,605,391 (GRCm39)	V925M	possibly damaging	Het
Zbtb6	A	C	2: 37,319,505 (GRCm39)	L141W	probably damaging	Het
Zranb1	G	T	7: 132,584,500 (GRCm39)	L615F	probably damaging	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
IGL01982:Slc27a4	APN	2	29,702,627 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- CTGTAGATTTCAAGGCCCCTCCAAC -3'
(R):5'- AATGGCTGGTAAAGCCCAGCAC -3'

Sequencing Primer
(F):5'- TCCAACTTGGCATGGAACC -3'
(R):5'- TAAAGCCCAGCACAGTTGAG -3'

Posted On

2013-05-23