Incidental Mutation 'IGL02477:Fads3'
ID 294993
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fads3
Ensembl Gene ENSMUSG00000024664
Gene Name fatty acid desaturase 3
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02477
Quality Score
Status
Chromosome 19
Chromosomal Location 10018933-10037474 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 10033806 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Glutamine at position 397 (P397Q)
Ref Sequence ENSEMBL: ENSMUSP00000111659 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115995]
AlphaFold Q9JJE7
Predicted Effect probably damaging
Transcript: ENSMUST00000115995
AA Change: P397Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000111659
Gene: ENSMUSG00000024664
AA Change: P397Q

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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik T A 4: 103,127,943 (GRCm39) I61F probably benign Het
Abr T C 11: 76,352,186 (GRCm39) K280E probably damaging Het
Acaca T C 11: 84,197,994 (GRCm39) probably benign Het
Cep131 C T 11: 119,961,406 (GRCm39) V582I probably damaging Het
Colec12 A G 18: 9,859,858 (GRCm39) N613D unknown Het
Cyp4f39 A G 17: 32,708,619 (GRCm39) T389A probably benign Het
D630003M21Rik T C 2: 158,059,408 (GRCm39) N164S probably benign Het
Eef1akmt2 A T 7: 132,452,318 (GRCm39) probably null Het
Elp3 T C 14: 65,800,760 (GRCm39) T283A probably benign Het
Fam171a1 T C 2: 3,203,612 (GRCm39) V198A possibly damaging Het
Fam171a2 T C 11: 102,330,854 (GRCm39) I208M probably benign Het
Fbxw17 G A 13: 50,577,853 (GRCm39) V119M possibly damaging Het
Gtf2ird1 G A 5: 134,408,832 (GRCm39) T140M probably damaging Het
Hspa14 C T 2: 3,497,661 (GRCm39) S277N probably damaging Het
Hspg2 C T 4: 137,271,823 (GRCm39) probably benign Het
Ing2 G T 8: 48,122,303 (GRCm39) R82S possibly damaging Het
Kat6a A G 8: 23,419,316 (GRCm39) Y693C probably damaging Het
Kcna7 A G 7: 45,059,047 (GRCm39) M445V probably benign Het
Lifr T G 15: 7,216,404 (GRCm39) I793S probably damaging Het
Lrrd1 T A 5: 3,915,770 (GRCm39) M789K probably benign Het
Myom3 T A 4: 135,506,679 (GRCm39) L484Q probably benign Het
Nav2 T A 7: 49,232,623 (GRCm39) M1860K probably damaging Het
Nipbl C T 15: 8,353,131 (GRCm39) probably null Het
Nsun7 T A 5: 66,433,992 (GRCm39) I214K probably damaging Het
Or5k17 T C 16: 58,746,126 (GRCm39) I269M probably benign Het
Or8c20 C T 9: 38,260,421 (GRCm39) S8L probably benign Het
Osm T A 11: 4,189,604 (GRCm39) N129K probably damaging Het
Plce1 C T 19: 38,707,997 (GRCm39) probably benign Het
Plch1 A G 3: 63,660,714 (GRCm39) F302L probably damaging Het
Pld2 T C 11: 70,431,751 (GRCm39) V27A possibly damaging Het
Prex2 A G 1: 11,274,378 (GRCm39) D1350G probably benign Het
Psme4 T A 11: 30,792,083 (GRCm39) V1190D probably damaging Het
Sema3g G T 14: 30,949,823 (GRCm39) R668L probably damaging Het
Sprr2f T A 3: 92,273,204 (GRCm39) M1K probably null Het
Sult6b2 G A 6: 142,747,447 (GRCm39) P101S probably damaging Het
Trem3 G A 17: 48,556,864 (GRCm39) V112I probably benign Het
Ttll9 T A 2: 152,842,117 (GRCm39) F324I possibly damaging Het
Ttn T A 2: 76,557,104 (GRCm39) D29967V probably damaging Het
Ubr4 A G 4: 139,163,516 (GRCm39) K2639E probably damaging Het
Vwce T C 19: 10,641,982 (GRCm39) probably null Het
Zbtb14 T A 17: 69,694,690 (GRCm39) D129E probably benign Het
Zmym6 C T 4: 126,972,295 (GRCm39) Q16* probably null Het
Other mutations in Fads3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00088:Fads3 APN 19 10,029,663 (GRCm39) missense probably null 0.98
IGL00422:Fads3 APN 19 10,033,045 (GRCm39) missense possibly damaging 0.80
IGL01081:Fads3 APN 19 10,030,366 (GRCm39) missense probably benign 0.00
IGL02454:Fads3 APN 19 10,032,483 (GRCm39) missense probably damaging 0.97
R0611:Fads3 UTSW 19 10,019,200 (GRCm39) missense probably damaging 1.00
R1169:Fads3 UTSW 19 10,031,463 (GRCm39) missense possibly damaging 0.82
R1400:Fads3 UTSW 19 10,033,664 (GRCm39) splice site probably null
R1893:Fads3 UTSW 19 10,033,868 (GRCm39) missense probably benign
R2508:Fads3 UTSW 19 10,033,818 (GRCm39) missense probably damaging 1.00
R3151:Fads3 UTSW 19 10,035,262 (GRCm39) missense probably benign 0.01
R4543:Fads3 UTSW 19 10,019,175 (GRCm39) missense possibly damaging 0.60
R4766:Fads3 UTSW 19 10,033,384 (GRCm39) missense possibly damaging 0.94
R4823:Fads3 UTSW 19 10,019,252 (GRCm39) missense probably damaging 0.98
R5117:Fads3 UTSW 19 10,019,322 (GRCm39) critical splice donor site probably null
R5846:Fads3 UTSW 19 10,030,397 (GRCm39) missense probably null 1.00
R6117:Fads3 UTSW 19 10,031,631 (GRCm39) missense probably damaging 1.00
R6225:Fads3 UTSW 19 10,019,202 (GRCm39) missense probably benign 0.25
R9024:Fads3 UTSW 19 10,033,839 (GRCm39) missense probably damaging 1.00
X0027:Fads3 UTSW 19 10,031,614 (GRCm39) missense probably damaging 1.00
Z1176:Fads3 UTSW 19 10,019,171 (GRCm39) missense probably benign 0.23
Posted On 2015-04-16