Incidental Mutation 'R4543:Fads3'
ID 333644
Institutional Source Beutler Lab
Gene Symbol Fads3
Ensembl Gene ENSMUSG00000024664
Gene Name fatty acid desaturase 3
Synonyms
MMRRC Submission 041778-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4543 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 10018933-10037474 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 10019175 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 27 (F27S)
Ref Sequence ENSEMBL: ENSMUSP00000111659 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115995] [ENSMUST00000144788]
AlphaFold Q9JJE7
Predicted Effect possibly damaging
Transcript: ENSMUST00000115995
AA Change: F27S

PolyPhen 2 Score 0.603 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000111659
Gene: ENSMUSG00000024664
AA Change: F27S

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
Predicted Effect probably benign
Transcript: ENSMUST00000144788
SMART Domains Protein: ENSMUSP00000121449
Gene: ENSMUSG00000024663

DomainStartEndE-ValueType
Pfam:Sec2p 89 198 4.4e-30 PFAM
Meta Mutation Damage Score 0.7010 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 94% (44/47)
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
A1bg A T 15: 60,789,749 (GRCm39) S500T probably damaging Het
Abhd3 T C 18: 10,706,672 (GRCm39) D2G possibly damaging Het
Ablim1 C T 19: 57,065,874 (GRCm39) R366H possibly damaging Het
Adgre1 T A 17: 57,713,874 (GRCm39) H186Q probably benign Het
Ankmy1 G T 1: 92,812,572 (GRCm39) A579E probably damaging Het
Ap2b1 C A 11: 83,215,476 (GRCm39) T140K probably damaging Het
Arhgef28 T A 13: 98,211,508 (GRCm39) E158D probably benign Het
Atp8b4 A G 2: 126,199,986 (GRCm39) F885L probably damaging Het
Barx2 A G 9: 31,758,092 (GRCm39) L282S unknown Het
Catsper2 C T 2: 121,237,890 (GRCm39) W163* probably null Het
Cep295 T C 9: 15,246,549 (GRCm39) T588A possibly damaging Het
Chil3 T G 3: 106,067,686 (GRCm39) K160Q probably benign Het
Clca3a1 T A 3: 144,452,749 (GRCm39) Q578L probably damaging Het
Crp A C 1: 172,526,304 (GRCm39) I130L probably benign Het
Dtwd2 C A 18: 49,857,175 (GRCm39) probably null Het
Gm3604 T C 13: 62,517,970 (GRCm39) D109G probably benign Het
Gtf2ird1 A G 5: 134,392,754 (GRCm39) probably null Het
H2-K2 C T 17: 34,218,532 (GRCm39) probably null Het
Hdac5 T C 11: 102,104,770 (GRCm39) probably benign Het
Il6st G A 13: 112,617,993 (GRCm39) V136M probably damaging Het
Immt T C 6: 71,828,762 (GRCm39) S106P probably damaging Het
Kat2b T C 17: 53,960,168 (GRCm39) I492T probably benign Het
Kcnn2 T C 18: 45,692,715 (GRCm39) F97S probably benign Het
Kdm4c A G 4: 74,248,997 (GRCm39) I84V probably benign Het
Kif7 G A 7: 79,357,296 (GRCm39) P637S probably benign Het
Lrrcc1 T A 3: 14,604,851 (GRCm39) I109K probably damaging Het
Med12l T A 3: 58,998,929 (GRCm39) C619S probably damaging Het
Mgat4f T A 1: 134,317,531 (GRCm39) M101K probably benign Het
Or8g51 A G 9: 38,608,841 (GRCm39) S274P possibly damaging Het
Polq T C 16: 36,881,147 (GRCm39) C1104R probably benign Het
Rbfox2 A T 15: 77,190,568 (GRCm39) M59K probably benign Het
Rft1 T C 14: 30,383,290 (GRCm39) V110A probably benign Het
Rsf1 GCGGCGGCG GCGGCGGCGTCGGCGGCG 7: 97,229,129 (GRCm39) probably benign Het
Slc2a12 T A 10: 22,540,685 (GRCm39) V180D probably damaging Het
Sox21 CCAGCGGCGGCGGCGGCAGCGGCGGCGGCGGCAGCGGC CCAGCGGCGGCGGCGGCAGCGGC 14: 118,472,548 (GRCm39) probably benign Het
Stap2 C T 17: 56,304,604 (GRCm39) probably null Het
Tenm4 A G 7: 96,545,022 (GRCm39) N2375S probably benign Het
Tmem132c A G 5: 127,582,041 (GRCm39) T419A probably benign Het
Tmprss11a G A 5: 86,559,668 (GRCm39) Q375* probably null Het
Trav12-3 CTCTG CTCTGTCTG 14: 53,859,693 (GRCm39) probably null Het
Vmn1r88 T A 7: 12,911,907 (GRCm39) S88T possibly damaging Het
Zfp622 T A 15: 25,991,623 (GRCm39) D143E possibly 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
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
Predicted Primers PCR Primer
(F):5'- CTGTCAGCGCGGTTATAAGG -3'
(R):5'- AGCCTATGAACAACGTCTCC -3'

Sequencing Primer
(F):5'- AAAAGTTCCCTGCGCGGAG -3'
(R):5'- TCTCCACCGCTAGTGCCAG -3'
Posted On 2015-08-18