Mutagenetix > Incidental Mutation

Incidental Mutation 'R1584:Slc27a4'

177304

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

039621-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1584 (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 29701202 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 331 (V331E)

Ref Sequence

ENSEMBL: ENSMUSP00000078971 (fasta)

Gene Model

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

AlphaFold

Q91VE0

Predicted Effect

probably damaging
Transcript: ENSMUST00000080065
AA Change: V331E

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000078971
Gene: ENSMUSG00000059316
AA Change: V331E

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

0.8469

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.6%
20x: 90.2%

Validation Efficiency

99% (106/107)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd15	C	T	11: 77,406,236 (GRCm39)	A71V	probably damaging	Het
Ager	A	G	17: 34,819,692 (GRCm39)	E357G	probably damaging	Het
Akap13	T	C	7: 75,378,797 (GRCm39)	S2095P	possibly damaging	Het
Ampd2	T	C	3: 107,987,653 (GRCm39)		probably null	Het
Arrdc1	T	C	2: 24,815,807 (GRCm39)	I398V	probably benign	Het
Ash1l	T	C	3: 88,959,372 (GRCm39)	Y2250H	probably damaging	Het
Brca2	G	A	5: 150,475,723 (GRCm39)	A2478T	probably damaging	Het
Btrc	T	A	19: 45,501,821 (GRCm39)		probably benign	Het
C8g	C	T	2: 25,390,228 (GRCm39)	A6T	probably benign	Het
Ccdc121rt3	C	T	5: 112,502,630 (GRCm39)	G358D	probably benign	Het
Cdc123	T	A	2: 5,808,788 (GRCm39)		probably null	Het
Cilp	G	A	9: 65,186,997 (GRCm39)	G1031S	probably damaging	Het
Cldn5	G	A	16: 18,596,227 (GRCm39)	G161D	probably damaging	Het
Cndp2	G	A	18: 84,695,440 (GRCm39)		probably benign	Het
Cntnap1	C	A	11: 101,071,186 (GRCm39)	F366L	probably damaging	Het
Corin	C	T	5: 72,460,133 (GRCm39)		probably null	Het
Ctdspl2	G	A	2: 121,834,410 (GRCm39)	R332K	probably benign	Het
Dido1	G	A	2: 180,304,121 (GRCm39)	P1261L	probably damaging	Het
Dop1a	A	T	9: 86,430,225 (GRCm39)	R2200*	probably null	Het
Dtx3l	G	A	16: 35,753,098 (GRCm39)	L503F	probably damaging	Het
Dysf	A	G	6: 84,044,029 (GRCm39)	K259R	probably benign	Het
Enpep	T	A	3: 129,113,097 (GRCm39)	T203S	probably damaging	Het
Epha2	T	A	4: 141,049,358 (GRCm39)		probably null	Het
Fam20b	T	C	1: 156,513,758 (GRCm39)		probably benign	Het
Fbln7	A	G	2: 128,719,349 (GRCm39)	T49A	probably benign	Het
Fgf14	T	A	14: 124,913,951 (GRCm39)	K60M	probably benign	Het
Fhad1	T	C	4: 141,712,822 (GRCm39)	I206V	probably benign	Het
Figla	A	G	6: 85,997,764 (GRCm39)	E164G	probably benign	Het
Gimap4	C	A	6: 48,668,216 (GRCm39)	Q196K	probably benign	Het
Glcci1	C	T	6: 8,537,964 (GRCm39)	T6I	probably damaging	Het
Grk4	T	C	5: 34,852,094 (GRCm39)	S113P	probably benign	Het
Hectd3	G	A	4: 116,853,763 (GRCm39)	E220K	probably damaging	Het
Hecw1	A	G	13: 14,515,328 (GRCm39)		probably null	Het
Helz2	G	A	2: 180,878,090 (GRCm39)	P903S	probably damaging	Het
Hydin	T	C	8: 111,307,447 (GRCm39)	V3942A	probably benign	Het
Irs1	G	T	1: 82,267,165 (GRCm39)	H350Q	probably benign	Het
Kdm1b	G	A	13: 47,217,530 (GRCm39)	E46K	probably damaging	Het
Klf11	A	G	12: 24,705,304 (GRCm39)	N253D	probably damaging	Het
Klhl23	T	C	2: 69,664,232 (GRCm39)	I527T	probably damaging	Het
Lars1	G	A	18: 42,343,115 (GRCm39)	R1101C	probably damaging	Het
Lcn4	G	A	2: 26,558,588 (GRCm39)	P166L	probably damaging	Het
Letmd1	T	A	15: 100,370,423 (GRCm39)		probably null	Het
Lilra6	T	A	7: 3,915,661 (GRCm39)	D358V	probably damaging	Het
Mmrn2	A	G	14: 34,097,642 (GRCm39)	D24G	probably benign	Het
Mroh2b	G	T	15: 4,955,166 (GRCm39)	D720Y	probably damaging	Het
Mrps35	C	T	6: 146,957,482 (GRCm39)	T169M	probably damaging	Het
Muc4	G	A	16: 32,574,886 (GRCm39)	G1157D	probably benign	Het
Naga	T	A	15: 82,218,989 (GRCm39)	M237L	probably null	Het
Nfu1	G	A	6: 86,997,791 (GRCm39)	E225K	probably damaging	Het
Nin	A	T	12: 70,089,443 (GRCm39)	L1324Q	probably benign	Het
Oc90	T	A	15: 65,769,569 (GRCm39)	Y96F	probably damaging	Het
Or4a80	C	T	2: 89,582,611 (GRCm39)	C187Y	probably damaging	Het
Or5b116	T	C	19: 13,423,023 (GRCm39)	Y216H	probably damaging	Het
Or5m11b	T	A	2: 85,806,339 (GRCm39)	F251I	probably damaging	Het
Or6ae1	A	G	7: 139,742,116 (GRCm39)	V249A	probably damaging	Het
Or8c9	G	A	9: 38,241,427 (GRCm39)	M181I	possibly damaging	Het
Orc4	A	T	2: 48,799,506 (GRCm39)	C324S	possibly damaging	Het
Pals1	A	G	12: 78,876,501 (GRCm39)	I482V	probably benign	Het
Pdzrn4	T	C	15: 92,668,418 (GRCm39)	S857P	probably benign	Het
Plec	C	T	15: 76,070,108 (GRCm39)	E1000K	possibly damaging	Het
Plvap	A	T	8: 71,961,125 (GRCm39)	V149D	probably benign	Het
Pm20d2	A	T	4: 33,174,772 (GRCm39)	N371K	probably damaging	Het
Ppp2r5d	A	G	17: 46,995,610 (GRCm39)	Y480H	probably benign	Het
Prkd1	A	T	12: 50,472,298 (GRCm39)	V205E	probably damaging	Het
R3hdm2	A	G	10: 127,312,559 (GRCm39)	I434V	probably benign	Het
Rel	T	A	11: 23,695,546 (GRCm39)	T246S	probably damaging	Het
Rnf215	T	A	11: 4,086,719 (GRCm39)	V172E	probably damaging	Het
Scara3	T	C	14: 66,158,553 (GRCm39)	D485G	probably damaging	Het
Sec16a	A	T	2: 26,321,169 (GRCm39)	Y1308N	probably damaging	Het
Sis	A	T	3: 72,839,393 (GRCm39)	D824E	possibly damaging	Het
Srebf1	C	T	11: 60,091,528 (GRCm39)	R999H	probably benign	Het
St3gal3	A	C	4: 117,964,859 (GRCm39)	M1R	probably null	Het
Tapbp	C	T	17: 34,138,914 (GRCm39)		probably null	Het
Tep1	A	T	14: 51,103,494 (GRCm39)	N265K	probably damaging	Het
Thoc2l	T	A	5: 104,666,123 (GRCm39)	I215N	probably damaging	Het
Tln2	T	A	9: 67,203,696 (GRCm39)	N470I	probably damaging	Het
Trim43a	G	T	9: 88,470,211 (GRCm39)	W339L	probably damaging	Het
Ttc22	T	C	4: 106,479,977 (GRCm39)	F77S	probably damaging	Het
Ttc8	A	G	12: 98,887,023 (GRCm39)	E32G	probably benign	Het
Uhmk1	A	T	1: 170,036,222 (GRCm39)		probably null	Het
Usp17lc	A	G	7: 103,068,148 (GRCm39)	H481R	possibly damaging	Het
Vamp8	G	A	6: 72,362,617 (GRCm39)	T35M	probably damaging	Het
Vill	A	G	9: 118,894,654 (GRCm39)	Y53C	probably damaging	Het
Vmn1r222	A	T	13: 23,416,932 (GRCm39)	S94T	probably damaging	Het
Vmn2r93	A	G	17: 18,525,413 (GRCm39)	Y357C	possibly damaging	Het
Vps13c	T	A	9: 67,800,394 (GRCm39)	V536D	possibly damaging	Het
Vrtn	G	A	12: 84,696,855 (GRCm39)	C535Y	probably damaging	Het
Vwa3a	A	G	7: 120,367,388 (GRCm39)	Y181C	probably damaging	Het
Wfikkn2	G	A	11: 94,129,721 (GRCm39)	T140I	probably damaging	Het
Ykt6	T	A	11: 5,912,349 (GRCm39)	F101I	probably damaging	Het
Zfp277	C	T	12: 40,428,825 (GRCm39)	G174D	probably benign	Het
Zfp638	A	G	6: 83,955,047 (GRCm39)		probably null	Het
Zzef1	C	T	11: 72,815,505 (GRCm39)	P2942S	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
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'- AGTGCTTACTCCACGGCATGAC -3'
(R):5'- CATTCAGTGGCCCCATAGAACTCAG -3'

Sequencing Primer
(F):5'- CGGAAGAAGTTCTCAGCCTC -3'
(R):5'- TAGAACTCAGCCACCTGGGG -3'

Posted On

2014-04-24