Incidental Mutation 'R1169:Fads3'
ID101572
Institutional Source Beutler Lab
Gene Symbol Fads3
Ensembl Gene ENSMUSG00000024664
Gene Namefatty acid desaturase 3
Synonyms
MMRRC Submission 039242-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R1169 (G1)
Quality Score225
Status Not validated
Chromosome19
Chromosomal Location10041548-10059671 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 10054099 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Leucine at position 205 (Q205L)
Ref Sequence ENSEMBL: ENSMUSP00000111659 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115995]
Predicted Effect possibly damaging
Transcript: ENSMUST00000115995
AA Change: Q205L

PolyPhen 2 Score 0.818 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000111659
Gene: ENSMUSG00000024664
AA Change: Q205L

DomainStartEndE-ValueType
low complexity region 2 25 N/A INTRINSIC
Cyt-b5 27 101 6.21e-16 SMART
Pfam:FA_desaturase 162 423 4.1e-35 PFAM
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the fatty acid desaturase (FADS) gene family. Desaturase enzymes regulate unsaturation of fatty acids through the introduction of double bonds between defined carbons of the fatty acyl chain. FADS family members are considered fusion products composed of an N-terminal cytochrome b5-like domain and a C-terminal multiple membrane-spanning desaturase portion, both of which are characterized by conserved histidine motifs. This gene is clustered with family members FADS1 and FADS2 at 11q12-q13.1; this cluster is thought to have arisen evolutionarily from gene duplication based on its similar exon/intron organization. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous knockout affects highly unsaturated fatty acid levels in the liver and brain. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931423N10Rik A G 2: 23,256,982 K275E possibly damaging Het
Abhd17a T C 10: 80,583,947 E275G probably damaging Het
Adam10 T A 9: 70,746,292 I123N probably damaging Het
Adam8 A T 7: 139,983,929 L715Q probably benign Het
Adcyap1r1 T A 6: 55,494,116 F418L probably damaging Het
Ankrd50 A T 3: 38,454,252 I1322K probably damaging Het
Arid4a G A 12: 71,075,338 S509N probably benign Het
Atxn7 T C 14: 14,095,468 S389P possibly damaging Het
C4b A T 17: 34,742,972 L100Q probably benign Het
Cacul1 G A 19: 60,580,408 A104V probably damaging Het
Camsap3 T C 8: 3,603,866 F512S probably damaging Het
Casp1 T C 9: 5,299,454 V61A possibly damaging Het
Chd1 T A 17: 15,735,732 F531Y probably damaging Het
Clec2h C T 6: 128,674,795 Q156* probably null Het
Clip2 T A 5: 134,492,250 E978V probably benign Het
Cnpy2 T G 10: 128,323,596 L34R probably damaging Het
Cog6 A T 3: 53,013,844 C114S probably benign Het
Col6a3 A T 1: 90,822,014 V366E possibly damaging Het
Col6a5 A G 9: 105,896,974 probably null Het
Dmbt1 G A 7: 131,074,524 probably null Het
Dok1 A G 6: 83,032,048 F218L possibly damaging Het
Dph7 T A 2: 24,966,571 N178K probably benign Het
Enam A T 5: 88,503,258 E800D probably damaging Het
Fbxo44 T C 4: 148,155,976 H265R probably benign Het
Gli1 T A 10: 127,338,451 S24C probably damaging Het
Gm4894 T A 9: 49,274,226 C43* probably null Het
Gpbp1l1 C T 4: 116,574,366 H74Y possibly damaging Het
H2-Eb2 T A 17: 34,333,357 F59I possibly damaging Het
Hspa14 T C 2: 3,498,124 N211S possibly damaging Het
Ifnlr1 T G 4: 135,705,108 F285C probably benign Het
Igf1r G T 7: 68,165,127 V259L probably benign Het
Igf2bp2 A T 16: 22,078,730 Y244* probably null Het
Ighg2c A T 12: 113,285,952 probably benign Het
Ighv8-14 A T 12: 115,808,455 probably null Het
Iqsec2 A G X: 152,144,731 S87G probably benign Het
Itsn2 A G 12: 4,639,694 K589R probably damaging Het
Khdc1a A C 1: 21,350,271 E38D possibly damaging Het
Krt42 T G 11: 100,263,345 probably null Het
Lman1l T C 9: 57,609,995 T369A probably damaging Het
Lpo T C 11: 87,817,317 N183S possibly damaging Het
Lrrc3 T A 10: 77,900,930 Y224F probably damaging Het
Ly6g6f T A 17: 35,083,264 D99V probably damaging Het
Lyplal1 T C 1: 186,114,334 I42V probably benign Het
Mis18bp1 G A 12: 65,143,283 Q793* probably null Het
Myh10 T G 11: 68,762,841 M346R probably damaging Het
Nav1 G T 1: 135,455,205 H1256Q probably damaging Het
Nbea A G 3: 55,968,323 V1642A probably benign Het
Olfr1066 A G 2: 86,455,587 I228T possibly damaging Het
Olfr1104 A G 2: 87,021,717 F276L probably damaging Het
Olfr1428 C T 19: 12,109,489 R19H probably benign Het
Olfr870 T C 9: 20,171,058 N171S probably benign Het
Orm3 G A 4: 63,357,848 V166M probably damaging Het
Oxct1 T A 15: 4,091,226 I264N probably damaging Het
Paox G A 7: 140,126,331 V55I probably benign Het
Pde4d C A 13: 109,950,928 probably null Het
Pnliprp1 A G 19: 58,734,951 N258S probably damaging Het
Prl7b1 C A 13: 27,606,904 R66L possibly damaging Het
Ptpre G T 7: 135,667,612 C261F probably benign Het
Rho C G 6: 115,932,238 N78K probably damaging Het
Rnf17 A G 14: 56,514,165 N1487D possibly damaging Het
Ryr3 G A 2: 112,733,014 T2922I probably benign Het
Saxo2 A C 7: 82,635,171 F160V possibly damaging Het
Sbf2 A T 7: 110,310,184 Y1786N probably benign Het
Sdad1 A T 5: 92,298,233 V280E probably benign Het
Sgsm1 T C 5: 113,279,485 D90G probably damaging Het
Siglec1 A T 2: 131,074,827 D1169E probably damaging Het
Sim1 T A 10: 50,981,522 V456E probably benign Het
Skint8 T A 4: 111,928,513 I52N possibly damaging Het
Slc27a1 C A 8: 71,580,653 R280S probably benign Het
Slc9a3 G A 13: 74,150,743 V94I probably damaging Het
Sorcs2 C A 5: 36,027,925 V936L possibly damaging Het
Syce1 A G 7: 140,778,207 F255S probably benign Het
Tmc7 G A 7: 118,551,260 S350L probably benign Het
Tmem200a T A 10: 25,994,348 I8F probably damaging Het
Trip6 T C 5: 137,311,920 H322R probably benign Het
Vmn2r72 A T 7: 85,751,309 N177K probably benign Het
Wdr66 GGGAGGAGGAGGAGGAGGAGGA GGGAGGAGGAGGAGGAGGA 5: 123,254,610 probably benign Het
Other mutations in Fads3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00088:Fads3 APN 19 10052299 missense probably null 0.98
IGL00422:Fads3 APN 19 10055681 missense possibly damaging 0.80
IGL01081:Fads3 APN 19 10053002 missense probably benign 0.00
IGL02454:Fads3 APN 19 10055119 missense probably damaging 0.97
IGL02477:Fads3 APN 19 10056442 missense probably damaging 1.00
R0611:Fads3 UTSW 19 10041836 missense probably damaging 1.00
R1400:Fads3 UTSW 19 10056300 splice site probably null
R1893:Fads3 UTSW 19 10056504 missense probably benign
R2508:Fads3 UTSW 19 10056454 missense probably damaging 1.00
R3151:Fads3 UTSW 19 10057898 missense probably benign 0.01
R4543:Fads3 UTSW 19 10041811 missense possibly damaging 0.60
R4766:Fads3 UTSW 19 10056020 missense possibly damaging 0.94
R4823:Fads3 UTSW 19 10041888 missense probably damaging 0.98
R5117:Fads3 UTSW 19 10041958 critical splice donor site probably null
R5846:Fads3 UTSW 19 10053033 missense probably null 1.00
R6117:Fads3 UTSW 19 10054267 missense probably damaging 1.00
R6225:Fads3 UTSW 19 10041838 missense probably benign 0.25
X0027:Fads3 UTSW 19 10054250 missense probably damaging 1.00
Z1176:Fads3 UTSW 19 10041807 missense probably benign 0.23
Predicted Primers
Posted On2014-01-15