Mutagenetix > Incidental Mutation

Incidental Mutation 'R6196:Slc27a4'

502904

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

044336-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6196 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

29692646-29707534 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 29695762 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 99 (D99G)

Ref Sequence

ENSEMBL: ENSMUSP00000078971 (fasta)

Gene Model

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

AlphaFold

Q91VE0

Predicted Effect

probably benign
Transcript: ENSMUST00000080065
AA Change: D99G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000078971
Gene: ENSMUSG00000059316
AA Change: D99G

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

0.0639

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

96% (55/57)

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
4933405L10Rik	A	T	8: 106,436,554 (GRCm39)	H241L	possibly damaging	Het
Acap1	T	C	11: 69,777,893 (GRCm39)	D115G	probably damaging	Het
Acvr2b	T	C	9: 119,262,469 (GRCm39)	V510A	possibly damaging	Het
Acyp2	C	T	11: 30,456,354 (GRCm39)	E98K	possibly damaging	Het
Agr2	A	T	12: 36,045,591 (GRCm39)	K26*	probably null	Het
Aox4	T	A	1: 58,256,685 (GRCm39)	I69N	probably damaging	Het
Asb4	G	A	6: 5,390,699 (GRCm39)	G31R	probably benign	Het
Atp6v1c2	C	A	12: 17,351,187 (GRCm39)	E105*	probably null	Het
Bend6	A	G	1: 33,917,509 (GRCm39)	Y44H	probably damaging	Het
Bltp3b	T	G	10: 89,641,195 (GRCm39)	S789A	probably benign	Het
Btn2a2	C	T	13: 23,672,015 (GRCm39)	V25M	possibly damaging	Het
Cab39l	T	A	14: 59,737,039 (GRCm39)	L53Q	probably damaging	Het
Cc2d1b	C	T	4: 108,490,422 (GRCm39)	R825W	probably damaging	Het
Cdc14b	C	T	13: 64,353,338 (GRCm39)		probably benign	Het
Cenpu	A	G	8: 47,015,615 (GRCm39)	R177G	probably benign	Het
Chit1	C	A	1: 134,074,381 (GRCm39)	Y229*	probably null	Het
Crybg2	C	A	4: 133,808,450 (GRCm39)	S1350R	probably damaging	Het
Ctdspl2	A	G	2: 121,809,373 (GRCm39)		probably null	Het
Ctsr	A	T	13: 61,308,345 (GRCm39)	H266Q	probably benign	Het
Dynlt5	A	G	4: 102,849,766 (GRCm39)	E63G	possibly damaging	Het
Efcab3	T	G	11: 104,746,386 (GRCm39)	I2279S	probably benign	Het
Extl3	T	A	14: 65,313,584 (GRCm39)	M533L	probably benign	Het
Fam162b	C	A	10: 51,463,506 (GRCm39)		probably null	Het
Fbxo28	T	C	1: 182,157,454 (GRCm39)	K121R	probably damaging	Het
Fsip2	A	C	2: 82,820,227 (GRCm39)	E5320A	possibly damaging	Het
Galc	A	T	12: 98,225,421 (GRCm39)	D56E	probably damaging	Het
Gm5468	A	G	15: 25,414,481 (GRCm39)		probably benign	Het
Hk1	T	A	10: 62,135,038 (GRCm39)	H24L	probably damaging	Het
Igkv5-43	A	G	6: 69,752,965 (GRCm39)	V39A	possibly damaging	Het
Lemd2	G	A	17: 27,411,976 (GRCm39)	Q439*	probably null	Het
Lgi1	A	G	19: 38,294,257 (GRCm39)	N295S	probably benign	Het
Macc1	T	G	12: 119,409,785 (GRCm39)	S184R	probably damaging	Het
Msmo1	A	G	8: 65,180,918 (GRCm39)		probably benign	Het
Muc5b	C	A	7: 141,405,333 (GRCm39)	R914S	unknown	Het
Or10d1	G	A	9: 39,483,776 (GRCm39)	P260S	possibly damaging	Het
Or1e16	G	A	11: 73,286,299 (GRCm39)	A183V	probably benign	Het
Or1e17	G	A	11: 73,831,635 (GRCm39)	A188T	possibly damaging	Het
Or4k2	C	A	14: 50,424,135 (GRCm39)	D180Y	probably damaging	Het
Or5b110-ps1	A	G	19: 13,260,290 (GRCm39)	I44T	probably benign	Het
Plekha5	T	C	6: 140,525,179 (GRCm39)	S14P	probably benign	Het
Pus10	A	G	11: 23,622,638 (GRCm39)	K86R	probably benign	Het
Rab37	T	C	11: 115,051,132 (GRCm39)	V147A	probably benign	Het
Sin3a	T	A	9: 57,011,213 (GRCm39)	I490N	probably damaging	Het
Slc43a2	C	T	11: 75,459,206 (GRCm39)	R413*	probably null	Het
Syna	G	T	5: 134,588,466 (GRCm39)	T161N	probably benign	Het
T	A	G	17: 8,655,996 (GRCm39)	D86G	possibly damaging	Het
Tanc1	G	A	2: 59,674,366 (GRCm39)	E1817K	possibly damaging	Het
Tap2	C	A	17: 34,433,384 (GRCm39)	Q516K	possibly damaging	Het
Tcaf1	A	T	6: 42,653,741 (GRCm39)	D717E	probably damaging	Het
Tcf20	G	T	15: 82,736,187 (GRCm39)	Q1755K	possibly damaging	Het
Top2b	T	G	14: 16,409,189 (GRCm38)	I777M	probably damaging	Het
Trpm7	G	A	2: 126,667,559 (GRCm39)	P811S	possibly damaging	Het
Vmn2r59	A	G	7: 41,661,679 (GRCm39)	V712A	probably benign	Het
Vwc2l	T	A	1: 70,768,180 (GRCm39)	D34E	probably damaging	Het
Wdr35	A	G	12: 9,077,632 (GRCm39)	K1091E	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
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
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'- CCTGGCTTAGCACTGATAGCTTC -3'
(R):5'- GTGCCTTTGAGGTGTCAAGAC -3'

Sequencing Primer
(F):5'- GGCTTAGCACTGATAGCTTCTTTCC -3'
(R):5'- ATCCCGCCTAAGGTTGGTG -3'

Posted On

2018-02-27