Incidental Mutation 'IGL02160:Slc27a4'
ID282407
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc27a4
Ensembl Gene ENSMUSG00000059316
Gene Namesolute carrier family 27 (fatty acid transporter), member 4
SynonymsFATP4, fatty acid transport protein 4
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02160
Quality Score
Status
Chromosome2
Chromosomal Location29802634-29817522 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 29805962 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Tyrosine at position 170 (D170Y)
Ref Sequence ENSEMBL: ENSMUSP00000078971 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080065]
Predicted Effect probably benign
Transcript: ENSMUST00000080065
AA Change: D170Y

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000078971
Gene: ENSMUSG00000059316
AA Change: D170Y

DomainStartEndE-ValueType
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931440F15Rik A T 11: 29,823,593 Y621* probably null Het
Acat1 A G 9: 53,591,987 V184A probably benign Het
Adam19 G A 11: 46,139,695 C750Y probably damaging Het
Brd8 C T 18: 34,602,727 S899N probably damaging Het
Cabp2 T A 19: 4,084,868 probably benign Het
Carmil3 T C 14: 55,493,558 M94T possibly damaging Het
Ccdc107 A G 4: 43,495,736 D213G probably damaging Het
Cdh23 T C 10: 60,597,765 probably benign Het
Cfhr2 T A 1: 139,810,926 D299V probably benign Het
Clcn7 T C 17: 25,149,030 probably benign Het
Clspn G A 4: 126,581,510 E1019K probably benign Het
Ctnna3 A G 10: 64,250,698 T350A probably benign Het
Dmbt1 G A 7: 131,082,688 G638E probably damaging Het
Ext2 A T 2: 93,813,584 D117E probably benign Het
Ffar4 T A 19: 38,097,455 V110D possibly damaging Het
Foxred2 G T 15: 77,955,650 Q147K probably benign Het
Gm960 T C 19: 4,663,584 D276G probably damaging Het
Heatr9 T C 11: 83,518,825 D107G probably benign Het
Hmgxb3 G A 18: 61,171,236 A94V probably damaging Het
Htr5b A T 1: 121,528,045 S49T possibly damaging Het
Il1rl1 A T 1: 40,461,837 M458L probably benign Het
Il23r A T 6: 67,423,578 N589K probably benign Het
Kbtbd11 G A 8: 15,028,801 V467M probably damaging Het
Kidins220 T A 12: 25,004,111 Y537N probably damaging Het
Kif27 T A 13: 58,325,998 E728D probably damaging Het
Lum T C 10: 97,568,581 S113P probably damaging Het
Mkln1 A G 6: 31,492,791 probably benign Het
Mmp17 A G 5: 129,595,569 D195G possibly damaging Het
Naa38 T A 11: 69,396,368 probably benign Het
Naalad2 G A 9: 18,379,937 A191V probably damaging Het
Naip6 A T 13: 100,299,425 H863Q probably benign Het
Ncoa6 A G 2: 155,421,083 V477A possibly damaging Het
Nipal3 G T 4: 135,474,417 Y153* probably null Het
Olfr1259 G T 2: 89,943,805 H103Q probably damaging Het
Olfr1279 G A 2: 111,306,798 V198I probably benign Het
Olfr1413 T A 1: 92,573,357 L62Q probably damaging Het
Olfr270 A G 4: 52,971,194 D191G probably damaging Het
Olfr982 A T 9: 40,075,186 N297I probably damaging Het
Pik3c2a G A 7: 116,388,064 P541S probably damaging Het
Ppargc1b A T 18: 61,310,435 D552E probably damaging Het
Ppfia3 C A 7: 45,360,051 probably benign Het
Prcp G A 7: 92,917,761 S227N probably benign Het
Ptprq T A 10: 107,653,565 T900S probably benign Het
Ralgapa2 G A 2: 146,348,440 probably benign Het
Rcsd1 A G 1: 165,657,579 S102P probably damaging Het
Rfwd3 T A 8: 111,273,075 N757I possibly damaging Het
Rnf217 A T 10: 31,505,771 probably null Het
Scn2a A G 2: 65,730,116 D1230G probably damaging Het
Sdc3 T C 4: 130,818,575 probably benign Het
Tcof1 A G 18: 60,848,743 probably benign Het
Ticam1 T A 17: 56,270,560 I512F possibly damaging Het
Ticrr T C 7: 79,694,019 C1211R probably benign Het
Tlr2 A T 3: 83,837,371 N468K possibly damaging Het
Tmod4 T C 3: 95,129,113 probably benign Het
Tnxb T C 17: 34,714,745 S2380P probably benign Het
Tox A G 4: 6,711,537 V309A probably damaging Het
Tpgs2 A G 18: 25,140,580 F175L possibly damaging Het
Trim43b A G 9: 89,091,630 S17P probably benign Het
Ttc21a G T 9: 119,956,923 L662F probably damaging Het
Ubqln1 A T 13: 58,192,137 N261K probably damaging Het
Umodl1 T C 17: 30,986,117 V562A probably damaging Het
Unc45b C T 11: 82,940,181 probably benign Het
Vars T A 17: 35,001,502 I20N probably damaging Het
Vcan T C 13: 89,684,493 N3092D probably damaging Het
Wdr66 A T 5: 123,256,018 E323D unknown Het
Zc3h6 G T 2: 128,997,685 E139D probably benign Het
Other mutations in Slc27a4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01132:Slc27a4 APN 2 29804302 missense probably benign 0.03
IGL01982:Slc27a4 APN 2 29812615 missense probably damaging 1.00
IGL02290:Slc27a4 APN 2 29815729 missense probably damaging 1.00
IGL02382:Slc27a4 APN 2 29809843 missense probably damaging 1.00
IGL02738:Slc27a4 APN 2 29811226 missense probably benign 0.15
R0470:Slc27a4 UTSW 2 29804185 missense probably benign 0.10
R0688:Slc27a4 UTSW 2 29812615 missense probably damaging 1.00
R0847:Slc27a4 UTSW 2 29811249 missense probably benign 0.20
R1466:Slc27a4 UTSW 2 29811190 missense probably damaging 0.99
R1466:Slc27a4 UTSW 2 29811190 missense probably damaging 0.99
R1584:Slc27a4 UTSW 2 29811190 missense probably damaging 0.99
R1793:Slc27a4 UTSW 2 29805721 missense probably benign 0.00
R1804:Slc27a4 UTSW 2 29811267 missense probably benign 0.01
R2056:Slc27a4 UTSW 2 29810941 missense probably damaging 0.99
R4901:Slc27a4 UTSW 2 29812636 missense probably damaging 1.00
R5601:Slc27a4 UTSW 2 29805660 missense probably benign 0.30
R5663:Slc27a4 UTSW 2 29812370 missense probably damaging 1.00
R5934:Slc27a4 UTSW 2 29811660 missense probably damaging 0.96
R6196:Slc27a4 UTSW 2 29805750 missense probably benign 0.00
R6643:Slc27a4 UTSW 2 29812848 missense probably benign 0.01
R7033:Slc27a4 UTSW 2 29804271 missense possibly damaging 0.94
R7176:Slc27a4 UTSW 2 29811226 missense probably benign 0.15
R7179:Slc27a4 UTSW 2 29815652 nonsense probably null
R7192:Slc27a4 UTSW 2 29805929 missense probably damaging 1.00
R7301:Slc27a4 UTSW 2 29812932 missense probably null 0.99
R7500:Slc27a4 UTSW 2 29812705 missense probably damaging 0.99
R7810:Slc27a4 UTSW 2 29805710 missense probably benign 0.25
R8042:Slc27a4 UTSW 2 29811190 missense probably damaging 0.99
Posted On2015-04-16