Mutagenetix > Incidental Mutation

Incidental Mutation 'R9505:Slc27a4'

717752

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9505 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

29692646-29707534 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 29701608 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 409 (I409V)

Ref Sequence

ENSEMBL: ENSMUSP00000078971 (fasta)

Gene Model

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

AlphaFold

Q91VE0

Predicted Effect

probably benign
Transcript: ENSMUST00000080065
AA Change: I409V

PolyPhen 2 Score 0.436 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000078971
Gene: ENSMUSG00000059316
AA Change: I409V

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	A	G	19: 57,185,782 (GRCm39)		probably benign	Het
Adamts17	A	C	7: 66,774,683 (GRCm39)	N961T	probably benign	Het
Adamts3	G	A	5: 89,855,751 (GRCm39)	T373I	probably damaging	Het
Bcan	G	A	3: 87,900,748 (GRCm39)	P495L	probably benign	Het
Bicd1	A	C	6: 149,385,522 (GRCm39)	E85A	probably benign	Het
Brca1	G	T	11: 101,403,592 (GRCm39)	H1437N	probably benign	Het
Camk2n1	T	C	4: 138,182,567 (GRCm39)	I24T	possibly damaging	Het
Ces2f	T	A	8: 105,676,669 (GRCm39)	M121K	probably benign	Het
Cfap299	A	G	5: 98,477,213 (GRCm39)	M1V	probably null	Het
CN725425	T	A	15: 91,124,867 (GRCm39)	Y136N	possibly damaging	Het
Ctla2a	T	A	13: 61,084,342 (GRCm39)	M2L	unknown	Het
Cyp3a57	A	T	5: 145,286,139 (GRCm39)	Y25F	probably benign	Het
Dicer1	C	T	12: 104,697,297 (GRCm39)	V87M	possibly damaging	Het
Dnah3	A	T	7: 119,644,912 (GRCm39)	I1123N	probably damaging	Het
Fcgbpl1	A	T	7: 27,841,909 (GRCm39)	K615*	probably null	Het
Fkbp10	G	T	11: 100,306,826 (GRCm39)	E73*	probably null	Het
Flnb	C	A	14: 7,904,665 (GRCm38)	H1023N	probably benign	Het
Gapvd1	T	A	2: 34,613,026 (GRCm39)	Q312H		Het
Garre1	A	T	7: 33,984,371 (GRCm39)	L84Q	probably damaging	Het
Htr1d	A	T	4: 136,170,889 (GRCm39)	I373F	probably benign	Het
Inhba	G	A	13: 16,201,356 (GRCm39)	R306H	probably damaging	Het
Inka1	T	A	9: 107,862,092 (GRCm39)	K75*	probably null	Het
Iqcg	A	T	16: 32,861,247 (GRCm39)	D156E	probably benign	Het
Ireb2	C	A	9: 54,813,921 (GRCm39)	T798K	probably damaging	Het
Klk1b8	G	A	7: 43,451,605 (GRCm39)	A199T	probably damaging	Het
Lgi2	T	C	5: 52,711,775 (GRCm39)	T182A	probably benign	Het
Ltbp2	C	A	12: 84,900,638 (GRCm39)	R228L	probably damaging	Het
Lyrm1	A	G	7: 119,509,090 (GRCm39)	K22E	possibly damaging	Het
Mybbp1a	A	G	11: 72,339,897 (GRCm39)	D967G	probably benign	Het
Nr6a1	C	T	2: 38,630,485 (GRCm39)	R259Q	probably benign	Het
Or4e2	A	G	14: 52,687,929 (GRCm39)	N20D	probably benign	Het
Or51aa5	T	C	7: 103,167,446 (GRCm39)	I48M	probably benign	Het
Or51i1	C	A	7: 103,670,698 (GRCm39)	V276F	probably damaging	Het
Pak5	A	T	2: 135,958,812 (GRCm39)	I92N	probably damaging	Het
Pcdhb5	T	A	18: 37,454,664 (GRCm39)	I348K	possibly damaging	Het
Phf2	C	T	13: 48,957,134 (GRCm39)	A1078T	probably damaging	Het
Rnf103	T	C	6: 71,487,049 (GRCm39)	V560A	probably benign	Het
Spata18	T	A	5: 73,809,017 (GRCm39)		probably null	Het
Spon1	A	G	7: 113,632,311 (GRCm39)	T545A	probably damaging	Het
Stab1	A	G	14: 30,877,722 (GRCm39)	S772P	probably damaging	Het
Stox2	A	T	8: 47,645,304 (GRCm39)	S719T	probably benign	Het
Syne1	A	G	10: 4,980,394 (GRCm39)	V864A	probably benign	Het
Syngap1	A	G	17: 27,180,579 (GRCm39)	S836G	probably benign	Het
Tiparp	G	T	3: 65,439,577 (GRCm39)	E298*	probably null	Het
Tmem52	A	G	4: 155,554,615 (GRCm39)	T114A	probably damaging	Het
Trim36	C	A	18: 46,329,281 (GRCm39)	C53F	probably damaging	Het
Ttn	T	C	2: 76,720,811 (GRCm39)	K6871R	unknown	Het
Ttn	C	A	2: 76,715,468 (GRCm39)		probably null	Het
Ube2d1	T	C	10: 71,098,094 (GRCm39)		probably null	Het
Unc13c	T	C	9: 73,838,824 (GRCm39)	T676A	probably benign	Het
Vinac1	A	T	2: 128,878,838 (GRCm39)	D1029E	unknown	Het
Vps13a	A	T	19: 16,719,908 (GRCm39)	Y417N	possibly damaging	Het
Zfp729a	C	T	13: 67,767,673 (GRCm39)	C852Y	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
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
R9658:Slc27a4	UTSW	2	29,701,301 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TTTGACAGCCGGGTAAGGTC -3'
(R):5'- GAACCCACACTCAGAATGGTTTATC -3'

Sequencing Primer
(F):5'- CCGGGTAAGGTCCAGATTG -3'
(R):5'- TTATCCACACTGACTATCCTCCAAG -3'

Posted On

2022-07-18