Incidental Mutation 'IGL00422:Fads3'
ID3245
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fads3
Ensembl Gene ENSMUSG00000024664
Gene Namefatty acid desaturase 3
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00422
Quality Score
Status
Chromosome19
Chromosomal Location10041548-10059671 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 10055681 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Valine at position 328 (F328V)
Ref Sequence ENSEMBL: ENSMUSP00000111659 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115995]
Predicted Effect possibly damaging
Transcript: ENSMUST00000115995
AA Change: F328V

PolyPhen 2 Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000111659
Gene: ENSMUSG00000024664
AA Change: F328V

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
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim1 C T 19: 57,068,186 A359T probably damaging Het
Ajuba A T 14: 54,571,769 Y400* probably null Het
Cckar T A 5: 53,699,829 D342V possibly damaging Het
Cdc123 A G 2: 5,798,449 V253A probably benign Het
Cep162 T C 9: 87,227,167 D461G probably benign Het
Chd7 G A 4: 8,859,106 E2399K probably damaging Het
Cln8 G A 8: 14,896,637 C217Y probably benign Het
Dchs1 A G 7: 105,758,029 V2119A possibly damaging Het
Dhx33 T C 11: 71,001,620 S108G probably benign Het
Dip2a T A 10: 76,313,236 M194L probably benign Het
Dnah11 T C 12: 118,068,096 K1779R probably damaging Het
Flad1 A G 3: 89,405,853 probably null Het
Gm5346 A G 8: 43,626,351 F279L probably damaging Het
Gm7535 G T 17: 17,911,888 probably benign Het
Gnpat A G 8: 124,885,013 E513G probably damaging Het
H2-M5 A G 17: 36,987,840 I238T probably damaging Het
Hoxd12 G A 2: 74,675,427 R114Q probably damaging Het
Ide T C 19: 37,276,532 I903V unknown Het
Ifi209 T G 1: 173,638,963 D120E possibly damaging Het
Map3k10 T C 7: 27,668,469 D248G probably damaging Het
Mat2b C A 11: 40,687,738 G41C probably damaging Het
Mfsd4a T C 1: 132,040,594 I369V probably benign Het
Myom1 T A 17: 71,126,098 V1480E probably damaging Het
Myom2 A T 8: 15,069,490 D127V probably damaging Het
Olfml2b T A 1: 170,669,066 V422E probably damaging Het
Pkn3 G A 2: 30,081,104 A228T probably damaging Het
Rad17 A T 13: 100,629,525 I365K probably benign Het
Rad17 A T 13: 100,629,523 S366T probably damaging Het
Rpp14 G A 14: 8,083,934 G30E possibly damaging Het
Slco1a6 A C 6: 142,161,017 C15G probably benign Het
Spag9 T A 11: 94,097,866 F571I probably benign Het
Ttc27 T A 17: 74,780,816 C459S probably damaging Het
Washc2 A G 6: 116,256,676 T888A probably benign Het
Zcchc7 A T 4: 44,931,318 H490L possibly damaging Het
Other mutations in Fads3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00088:Fads3 APN 19 10052299 missense probably null 0.98
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
R1169:Fads3 UTSW 19 10054099 missense possibly damaging 0.82
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
Posted On2012-04-20