Incidental Mutation 'R0847:Slc27a4'
ID 76994
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 039026-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0847 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 29692646-29707534 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 29701261 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 351 (S351P)
Ref Sequence ENSEMBL: ENSMUSP00000078971 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080065]
AlphaFold Q91VE0
Predicted Effect probably benign
Transcript: ENSMUST00000080065
AA Change: S351P

PolyPhen 2 Score 0.204 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000078971
Gene: ENSMUSG00000059316
AA Change: S351P

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
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.4%
  • 20x: 95.2%
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b T C 5: 8,895,764 (GRCm39) I899T probably damaging Het
Ahnak C T 19: 8,983,797 (GRCm39) Q1694* probably null Het
Cblc A T 7: 19,524,459 (GRCm39) Y260* probably null Het
Ccn4 T G 15: 66,791,124 (GRCm39) C309G probably damaging Het
Ceacam5 A G 7: 17,491,762 (GRCm39) T711A possibly damaging Het
Cep63 A G 9: 102,465,957 (GRCm39) S690P probably benign Het
Chia1 A T 3: 106,039,253 (GRCm39) I448F probably benign Het
Dmxl2 A T 9: 54,313,112 (GRCm39) F1712I probably damaging Het
Ecpas G A 4: 58,841,439 (GRCm39) T645I probably benign Het
Exosc3 A G 4: 45,319,695 (GRCm39) V109A probably damaging Het
Fxyd7 A G 7: 30,744,029 (GRCm39) C60R probably damaging Het
Gm17349 C A 15: 99,600,289 (GRCm39) probably benign Het
Gpn2 A G 4: 133,315,906 (GRCm39) N199D probably benign Het
Ints12 C T 3: 132,814,603 (GRCm39) T270M possibly damaging Het
Kdm4a C T 4: 118,021,695 (GRCm39) E266K probably damaging Het
Kremen2 G T 17: 23,963,634 (GRCm39) T50N probably damaging Het
Macf1 A T 4: 123,293,159 (GRCm39) D1249E probably benign Het
Mdga2 T A 12: 66,769,854 (GRCm39) K146N probably damaging Het
Med20 G A 17: 47,922,618 (GRCm39) probably null Het
Myo18b T C 5: 113,022,354 (GRCm39) probably benign Het
Nav3 T A 10: 109,739,718 (GRCm39) T84S possibly damaging Het
Olfm2 A G 9: 20,579,953 (GRCm39) V266A probably damaging Het
Or5b101 A T 19: 13,005,095 (GRCm39) Y199* probably null Het
Or5b123 C T 19: 13,596,915 (GRCm39) H87Y probably benign Het
Or6c69b T A 10: 129,627,327 (GRCm39) I44F probably damaging Het
Pthlh A T 6: 147,164,766 (GRCm39) probably null Het
Rpap3 C T 15: 97,601,082 (GRCm39) probably null Het
Rprd2 A G 3: 95,672,725 (GRCm39) S893P probably benign Het
Sacm1l G A 9: 123,377,927 (GRCm39) G69D probably damaging Het
Sobp C G 10: 42,898,415 (GRCm39) R390P probably damaging Het
Spata7 T A 12: 98,614,689 (GRCm39) M107K possibly damaging Het
Sri G A 5: 8,113,755 (GRCm39) probably null Het
Stab2 T C 10: 86,805,735 (GRCm39) I204V probably benign Het
Synm T C 7: 67,384,804 (GRCm39) I511V probably damaging Het
Tbr1 T C 2: 61,635,373 (GRCm39) S108P probably benign Het
Tln1 A G 4: 43,555,333 (GRCm39) F197S probably damaging Het
Tmem167b C T 3: 108,467,537 (GRCm39) G46R probably benign Het
Tmprss11g T C 5: 86,638,585 (GRCm39) K301R probably benign Het
Tnfrsf21 C T 17: 43,349,104 (GRCm39) H239Y probably benign Het
Trpm2 C T 10: 77,765,122 (GRCm39) V960M possibly damaging Het
Ube3a G A 7: 58,926,334 (GRCm39) D371N possibly damaging Het
Vmn2r57 A T 7: 41,078,225 (GRCm39) F78I 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
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
R9658:Slc27a4 UTSW 2 29,701,301 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- ACTTCAGAATGCTCCCTTGGGCAG -3'
(R):5'- AGGATGCGGCTATTGAAGCCAC -3'

Sequencing Primer
(F):5'- AGCGTCTTCATTGCTCGG -3'
(R):5'- TGGAGAGACTCTGGTATCCACTC -3'
Posted On 2013-10-16