Incidental Mutation 'R6117:Fads3'
ID 485190
Institutional Source Beutler Lab
Gene Symbol Fads3
Ensembl Gene ENSMUSG00000024664
Gene Name fatty acid desaturase 3
Synonyms
MMRRC Submission 044266-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6117 (G1)
Quality Score 225.009
Status Not validated
Chromosome 19
Chromosomal Location 10018933-10037474 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 10031631 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 226 (H226L)
Ref Sequence ENSEMBL: ENSMUSP00000111659 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115995]
AlphaFold Q9JJE7
Predicted Effect probably damaging
Transcript: ENSMUST00000115995
AA Change: H226L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000111659
Gene: ENSMUSG00000024664
AA Change: H226L

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: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.4%
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agbl1 A G 7: 76,348,534 (GRCm39) Y625C probably damaging Het
Ankmy1 A G 1: 92,788,996 (GRCm39) probably benign Het
Apmap T C 2: 150,442,252 (GRCm39) T41A probably benign Het
Cacna1a A G 8: 85,341,350 (GRCm39) Y1804C probably damaging Het
Cacna1e A T 1: 154,437,537 (GRCm39) I333N possibly damaging Het
Cdsn C A 17: 35,865,931 (GRCm39) S153R unknown Het
Celsr1 A T 15: 85,816,612 (GRCm39) M1777K probably benign Het
Cmtr1 A G 17: 29,901,139 (GRCm39) M249V probably benign Het
Cmya5 A G 13: 93,231,674 (GRCm39) L1138P probably damaging Het
Crim1 A C 17: 78,610,517 (GRCm39) D324A probably damaging Het
Dmap1 T A 4: 117,532,732 (GRCm39) probably null Het
Dnah17 T C 11: 118,010,397 (GRCm39) Y307C probably benign Het
Dnah5 T A 15: 28,270,566 (GRCm39) L956H probably damaging Het
Enpp3 C T 10: 24,663,750 (GRCm39) S537N probably damaging Het
Eya3 T A 4: 132,439,173 (GRCm39) L323Q probably damaging Het
Flrt3 T A 2: 140,502,365 (GRCm39) D421V possibly damaging Het
Frmd4a T C 2: 4,607,060 (GRCm39) V370A possibly damaging Het
Gapvd1 T C 2: 34,580,471 (GRCm39) probably null Het
Gm2178 T C 14: 26,235,995 (GRCm39) probably benign Het
Gm5592 A G 7: 40,937,888 (GRCm39) N390S probably benign Het
Hoxa10 T A 6: 52,211,800 (GRCm39) R39* probably null Het
Kcnj1 A G 9: 32,308,478 (GRCm39) T281A probably damaging Het
Myo10 T C 15: 25,805,745 (GRCm39) Y1709H probably benign Het
Nacad T C 11: 6,549,810 (GRCm39) D1127G probably benign Het
Naip1 T A 13: 100,581,245 (GRCm39) M1L probably damaging Het
Or10ak9 A T 4: 118,726,341 (GRCm39) Y121F probably benign Het
Or6c215 G A 10: 129,637,689 (GRCm39) A235V probably damaging Het
Or6c215 C A 10: 129,637,690 (GRCm39) A235S probably damaging Het
Pcdhb12 G A 18: 37,568,695 (GRCm39) probably benign Het
Pde1b T C 15: 103,429,909 (GRCm39) V134A probably damaging Het
Plxnb2 A T 15: 89,042,203 (GRCm39) D1600E probably benign Het
Prss54 T A 8: 96,292,086 (GRCm39) probably null Het
Ryr3 A T 2: 112,465,741 (GRCm39) I4757N probably damaging Het
Slc1a6 T C 10: 78,624,822 (GRCm39) Y76H possibly damaging Het
Slco3a1 C T 7: 73,968,254 (GRCm39) D489N probably benign Het
Sox15 G T 11: 69,546,716 (GRCm39) G173V possibly damaging Het
Stard3 T C 11: 98,263,088 (GRCm39) S48P probably damaging Het
Stk32c G A 7: 138,702,839 (GRCm39) Q67* probably null Het
Svil T A 18: 5,116,016 (GRCm39) W2101R probably damaging Het
Taar7e T A 10: 23,914,427 (GRCm39) Y306N probably damaging Het
Tarbp1 T A 8: 127,154,280 (GRCm39) M1485L probably benign Het
Togaram1 A G 12: 65,014,261 (GRCm39) D504G probably damaging Het
Trrap T C 5: 144,739,771 (GRCm39) L1091S possibly damaging Het
Unc80 A G 1: 66,714,226 (GRCm39) E2856G possibly damaging Het
Usp47 C T 7: 111,687,139 (GRCm39) T699M probably damaging 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
IGL02477:Fads3 APN 19 10,033,806 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- GTGCTGGTGTCTGCAACATG -3'
(R):5'- GGCAACTCTAGATTCTAGCCCC -3'

Sequencing Primer
(F):5'- GTCTGCAACATGATCTAGGTCATGC -3'
(R):5'- AGATTCTAGCCCCTGAGCC -3'
Posted On 2017-08-16