Incidental Mutation 'R7179:Slc27a4'
ID 558814
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 045269-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7179 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 29692646-29707534 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to G at 29705664 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 617 (Y617*)
Ref Sequence ENSEMBL: ENSMUSP00000078971 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080065]
AlphaFold Q91VE0
Predicted Effect probably null
Transcript: ENSMUST00000080065
AA Change: Y617*
SMART Domains Protein: ENSMUSP00000078971
Gene: ENSMUSG00000059316
AA Change: Y617*

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.1%
Validation Efficiency 100% (76/76)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot13 A T 13: 25,002,154 (GRCm39) I96K probably benign Het
Adam6a A G 12: 113,509,291 (GRCm39) T555A probably benign Het
Alms1 C T 6: 85,598,351 (GRCm39) P1059L probably benign Het
Apol7c T C 15: 77,409,843 (GRCm39) T368A probably benign Het
Arfgef3 A T 10: 18,475,015 (GRCm39) L1557Q probably damaging Het
Baz2a C T 10: 127,960,326 (GRCm39) R1514W probably damaging Het
Bmp3 T A 5: 99,020,622 (GRCm39) D348E probably damaging Het
Bves A G 10: 45,230,913 (GRCm39) S295G probably damaging Het
Carmil1 A G 13: 24,204,052 (GRCm39) C1328R probably benign Het
Ccnk T A 12: 108,153,517 (GRCm39) Y93N probably damaging Het
Ccr1 A T 9: 123,764,089 (GRCm39) V147D probably damaging Het
Cd24a G A 10: 43,458,636 (GRCm39) G36S probably benign Het
Cep104 A G 4: 154,077,324 (GRCm39) Y569C probably damaging Het
Chd2 A T 7: 73,125,168 (GRCm39) I884N probably damaging Het
Cnst A T 1: 179,406,947 (GRCm39) probably benign Het
Col22a1 A G 15: 71,805,262 (GRCm39) L146P unknown Het
Col25a1 G T 3: 130,323,768 (GRCm39) R321L probably damaging Het
Ctnnd2 T C 15: 30,683,510 (GRCm39) Y504H possibly damaging Het
D3Ertd751e C A 3: 41,703,143 (GRCm39) Q73K probably damaging Het
Dsc2 C T 18: 20,168,332 (GRCm39) probably null Het
Eya1 A T 1: 14,373,076 (GRCm39) S14R probably damaging Het
Fam131c A T 4: 141,110,328 (GRCm39) probably null Het
Flvcr2 T C 12: 85,793,965 (GRCm39) F114L possibly damaging Het
Fyn A G 10: 39,408,120 (GRCm39) D321G possibly damaging Het
Galnt5 A C 2: 57,888,621 (GRCm39) M74L probably benign Het
Garin4 G A 1: 190,896,218 (GRCm39) R142C probably damaging Het
Gas2l2 G A 11: 83,313,288 (GRCm39) P675S probably benign Het
Gm9508 G T 10: 77,532,470 (GRCm39) Q200K unknown Het
Greb1l G A 18: 10,544,576 (GRCm39) S1390N probably benign Het
Hdac5 G T 11: 102,095,385 (GRCm39) T430K possibly damaging Het
Hjurp TCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCTGCT TCT 1: 88,194,000 (GRCm39) probably benign Het
Khnyn C T 14: 56,131,811 (GRCm39) P578S probably damaging Het
Lepr A T 4: 101,602,856 (GRCm39) T215S probably benign Het
Lrfn5 G A 12: 61,890,768 (GRCm39) V686I probably benign Het
Mapkap1 T A 2: 34,408,712 (GRCm39) H233Q possibly damaging Het
Mcm3 A G 1: 20,885,081 (GRCm39) I201T probably damaging Het
Metrnl G A 11: 121,606,734 (GRCm39) R263Q probably damaging Het
Mettl22 A G 16: 8,295,924 (GRCm39) E71G probably benign Het
Muc16 T C 9: 18,553,304 (GRCm39) T4330A probably benign Het
Mug1 A G 6: 121,834,379 (GRCm39) T387A probably benign Het
Myh4 A G 11: 67,135,550 (GRCm39) D379G probably benign Het
Nbas A G 12: 13,455,398 (GRCm39) D1204G possibly damaging Het
Ncor2 T C 5: 125,132,847 (GRCm39) K478E unknown Het
Or14a256 A T 7: 86,265,574 (GRCm39) L93Q possibly damaging Het
Or51d1 A G 7: 102,347,477 (GRCm39) T11A probably benign Het
Or5k1 T A 16: 58,617,250 (GRCm39) I320F probably benign Het
Osbpl7 G A 11: 96,941,662 (GRCm39) V62I probably benign Het
Pak1ip1 A G 13: 41,163,018 (GRCm39) N246S probably damaging Het
Prim1 A G 10: 127,851,845 (GRCm39) Y39C probably damaging Het
Prl3b1 G T 13: 27,427,827 (GRCm39) V46L probably benign Het
Prss54 A T 8: 96,292,199 (GRCm39) S127T probably benign Het
Rasal3 G A 17: 32,611,391 (GRCm39) T912M probably damaging Het
Rrp12 T A 19: 41,872,217 (GRCm39) T420S probably benign Het
Rspo1 A G 4: 124,898,831 (GRCm39) N51D probably damaging Het
Rufy4 A G 1: 74,172,035 (GRCm39) R253G probably benign Het
Scaf1 G A 7: 44,657,167 (GRCm39) R571C unknown Het
Scn2a A T 2: 65,532,323 (GRCm39) H645L probably damaging Het
Sec24b A G 3: 129,782,595 (GRCm39) S1132P probably damaging Het
Slc1a2 A G 2: 102,586,290 (GRCm39) K298R probably damaging Het
Slc25a54 T A 3: 109,014,573 (GRCm39) N230K probably benign Het
Slc2a10 T C 2: 165,357,269 (GRCm39) S310P probably damaging Het
Snx33 C T 9: 56,833,151 (GRCm39) R306H probably damaging Het
Spag9 A T 11: 93,980,258 (GRCm39) probably null Het
Spg11 A T 2: 121,932,270 (GRCm39) probably null Het
Sycp2l A G 13: 41,283,258 (GRCm39) T165A probably damaging Het
Syt14 A G 1: 192,615,571 (GRCm39) C189R probably damaging Het
Taar9 A T 10: 23,984,882 (GRCm39) L184Q probably damaging Het
Tkt C T 14: 30,281,815 (GRCm39) P111L probably damaging Het
Trpc1 A T 9: 95,603,197 (GRCm39) L445Q possibly damaging Het
Usp53 A G 3: 122,743,359 (GRCm39) S526P probably benign Het
Vps54 T G 11: 21,248,791 (GRCm39) W447G probably damaging Het
Xirp2 A T 2: 67,340,177 (GRCm39) H806L probably benign Het
Zfp451 A T 1: 33,841,651 (GRCm39) H410Q unknown Het
Zfp688 A G 7: 127,018,484 (GRCm39) C214R probably damaging Het
Zic4 A G 9: 91,261,174 (GRCm39) D143G possibly damaging 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
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'- ACATACAGTGTCCCCGTGTC -3'
(R):5'- CACTTGGCAGTTTGGGAGAG -3'

Sequencing Primer
(F):5'- ATACAGTGTCCCCGTGTCCTTTC -3'
(R):5'- AGATCAGCACCTAGGGGC -3'
Posted On 2019-06-26