Incidental Mutation 'R9658:Slc27a4'
ID 735517
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 # R9658 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 29692646-29707534 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 29701301 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 364 (R364Q)
Ref Sequence ENSEMBL: ENSMUSP00000078971 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080065]
AlphaFold Q91VE0
Predicted Effect probably damaging
Transcript: ENSMUST00000080065
AA Change: R364Q

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000078971
Gene: ENSMUSG00000059316
AA Change: R364Q

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 99.4%
  • 20x: 98.7%
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503L19Rik C T 18: 70,600,401 (GRCm39) probably null Het
Abca12 T C 1: 71,325,634 (GRCm39) I1521M probably damaging Het
Abcc3 A G 11: 94,263,703 (GRCm39) S268P possibly damaging Het
Adamts20 G C 15: 94,249,626 (GRCm39) P464A probably damaging Het
Apoa1 C A 9: 46,141,280 (GRCm39) D125E probably benign Het
Atp6v0a1 C A 11: 100,909,414 (GRCm39) Q48K probably benign Het
Bptf T C 11: 107,002,170 (GRCm39) N314S probably damaging Het
Cdh20 T C 1: 109,988,785 (GRCm39) V229A probably damaging Het
Cfap46 G A 7: 139,246,229 (GRCm39) T378M Het
Clca3b T A 3: 144,543,575 (GRCm39) D418V probably damaging Het
Dennd4c T A 4: 86,754,625 (GRCm39) L1545* probably null Het
Dnajc13 A G 9: 104,115,728 (GRCm39) V27A probably benign Het
Efcab3 A G 11: 104,611,120 (GRCm39) K321E probably benign Het
Eif2ak2 A T 17: 79,183,632 (GRCm39) D72E probably benign Het
Eif2ak4 T C 2: 118,269,511 (GRCm39) I862T probably damaging Het
Eif4g1 T C 16: 20,502,863 (GRCm39) I1022T probably benign Het
Enpp3 A T 10: 24,649,802 (GRCm39) *875R probably null Het
F11 T C 8: 45,698,671 (GRCm39) Y491C probably damaging Het
Fam98c A C 7: 28,852,206 (GRCm39) W118G probably damaging Het
Fbxo43 A T 15: 36,152,282 (GRCm39) L509Q probably damaging Het
Fbxw5 A G 2: 25,393,870 (GRCm39) H366R probably damaging Het
Flt1 G T 5: 147,525,377 (GRCm39) N920K probably damaging Het
Git1 T A 11: 77,390,581 (GRCm39) F106I probably damaging Het
Glipr1l2 A G 10: 111,942,868 (GRCm39) E241G probably damaging Het
Gm2381 A C 7: 42,469,729 (GRCm39) C132G probably damaging Het
Gm49383 A G 12: 69,239,628 (GRCm39) I237T Het
Gm7324 T A 14: 43,952,282 (GRCm39) D308E probably benign Het
Gpr17 A G 18: 32,080,421 (GRCm39) L214P probably damaging Het
Gtf3c1 A T 7: 125,306,734 (GRCm39) L39Q probably damaging Het
H2-Q6 C T 17: 35,644,185 (GRCm39) R56C probably damaging Het
Hcar2 T C 5: 124,002,532 (GRCm39) T324A possibly damaging Het
Ksr2 T C 5: 117,885,425 (GRCm39) S750P probably damaging Het
Lipi C A 16: 75,357,689 (GRCm39) R292L probably benign Het
Map4k3 C A 17: 80,961,306 (GRCm39) M133I probably benign Het
Marf1 A T 16: 13,958,087 (GRCm39) L805Q probably damaging Het
Mccc2 T A 13: 100,090,754 (GRCm39) R460W probably damaging Het
Mgam A G 6: 40,721,311 (GRCm39) D312G possibly damaging Het
Nadk2 A T 15: 9,103,449 (GRCm39) K360* probably null Het
Nalf1 T C 8: 9,820,114 (GRCm39) D302G probably benign Het
Nars2 A G 7: 96,689,178 (GRCm39) I367V probably benign Het
Nppb T C 4: 148,070,951 (GRCm39) S109P possibly damaging Het
Odf2 G A 2: 29,779,813 (GRCm39) R15Q probably benign Het
Or4f59 C A 2: 111,872,823 (GRCm39) A185S probably damaging Het
Or51l4 C T 7: 103,404,028 (GRCm39) V255M probably damaging Het
Or5ac25 A T 16: 59,182,106 (GRCm39) H158Q probably damaging Het
Osbpl1a A T 18: 12,889,269 (GRCm39) I949N probably benign Het
Pan3 T C 5: 147,479,881 (GRCm39) F55L probably benign Het
Patj A G 4: 98,353,377 (GRCm39) D640G probably null Het
Pdxk T C 10: 78,287,403 (GRCm39) K53E probably benign Het
Pja2 A G 17: 64,599,868 (GRCm39) S539P probably damaging Het
Plscr1 T A 9: 92,148,535 (GRCm39) C158* probably null Het
Prdm14 T C 1: 13,189,145 (GRCm39) T400A probably benign Het
Rag1 C T 2: 101,473,229 (GRCm39) V638M possibly damaging Het
Ros1 A G 10: 51,967,069 (GRCm39) S1734P probably damaging Het
S100a9 T C 3: 90,600,081 (GRCm39) H105R unknown Het
Shisa9 A T 16: 12,062,520 (GRCm39) Q247L possibly damaging Het
Slc14a1 C A 18: 78,152,807 (GRCm39) A367S probably damaging Het
Spag17 C T 3: 99,934,932 (GRCm39) P713S possibly damaging Het
Tbc1d4 T A 14: 101,845,856 (GRCm39) H14L probably damaging Het
Tmem144 T A 3: 79,729,991 (GRCm39) Y253F probably damaging Het
Tmem204 C T 17: 25,299,322 (GRCm39) G66R possibly damaging Het
Tnfrsf1b A T 4: 144,942,424 (GRCm39) V453E probably damaging Het
Tns1 G C 1: 73,981,182 (GRCm39) Q1061E probably benign Het
Tns1 G T 1: 73,981,183 (GRCm39) N1060K probably benign Het
Trav5-1 A G 14: 52,860,428 (GRCm39) K78E probably benign Het
Ttn C T 2: 76,715,357 (GRCm39) E7912K unknown Het
Usp17lc G A 7: 103,067,389 (GRCm39) G228D possibly damaging Het
Uvssa T C 5: 33,568,333 (GRCm39) C574R probably damaging Het
Veph1 G A 3: 66,171,434 (GRCm39) Q3* probably null Het
Vps13b T A 15: 35,623,774 (GRCm39) D1230E probably benign Het
Xkr9 T A 1: 13,771,318 (GRCm39) I278N probably damaging Het
Zbed4 C A 15: 88,664,742 (GRCm39) A270E probably benign Het
Zfp366 A T 13: 99,365,435 (GRCm39) T199S probably benign Het
Other mutations in Slc27a4
AlleleSourceChrCoordTypePredicted EffectPPH 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
R9505:Slc27a4 UTSW 2 29,701,608 (GRCm39) missense probably benign 0.44
Predicted Primers PCR Primer
(F):5'- AGACTTCAGAATGCTCCCTTGG -3'
(R):5'- GCCTAGGGCCTATTGTGATC -3'

Sequencing Primer
(F):5'- CAGCGTCTTCATTGCTCGGATG -3'
(R):5'- AGGGCCTATTGTGATCCACCC -3'
Posted On 2022-11-14