Incidental Mutation 'IGL02801:Fads2'
ID 360192
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fads2
Ensembl Gene ENSMUSG00000024665
Gene Name fatty acid desaturase 2
Synonyms Fads2a, 2900042M13Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.834) question?
Stock # IGL02801
Quality Score
Status
Chromosome 19
Chromosomal Location 10040129-10078867 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 10060009 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 222 (A222S)
Ref Sequence ENSEMBL: ENSMUSP00000025567 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025567]
AlphaFold Q9Z0R9
Predicted Effect possibly damaging
Transcript: ENSMUST00000025567
AA Change: A222S

PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000025567
Gene: ENSMUSG00000024665
AA Change: A222S

DomainStartEndE-ValueType
Cyt-b5 21 95 1.63e-19 SMART
transmembrane domain 124 143 N/A INTRINSIC
Pfam:FA_desaturase 156 418 5.2e-36 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 at 11q12-q13.1; this cluster is thought to have arisen evolutionarily from gene duplication based on its similar exon/intron organization. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]
PHENOTYPE: Mice homozygous for a null allele display absence of long-chain polyunsaturated fatty acids, infertility, arrest of spermiogenesis and folliculogenesis, and impaired platelet function. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap5 A T 12: 76,375,769 (GRCm39) K400N probably benign Het
Aox1 A T 1: 58,393,336 (GRCm39) I1193F probably damaging Het
Arhgef16 A T 4: 154,375,964 (GRCm39) L10Q probably damaging Het
Arl10 T C 13: 54,723,696 (GRCm39) V106A probably benign Het
Bmi1 T C 2: 18,686,692 (GRCm39) Y24H probably damaging Het
Cd163 T A 6: 124,297,488 (GRCm39) I878K probably benign Het
Col12a1 A G 9: 79,515,696 (GRCm39) probably null Het
Csmd2 T C 4: 128,445,868 (GRCm39) probably null Het
Dcp2 G T 18: 44,550,778 (GRCm39) M417I probably damaging Het
Ddx11 T A 17: 66,455,028 (GRCm39) C662S probably benign Het
Dhx29 G A 13: 113,101,180 (GRCm39) C1241Y probably damaging Het
Dnajc6 C T 4: 101,455,010 (GRCm39) P37L probably benign Het
Dqx1 A G 6: 83,037,476 (GRCm39) probably null Het
Dzip1 T A 14: 119,123,067 (GRCm39) K643* probably null Het
Ecel1 A G 1: 87,079,725 (GRCm39) S463P probably damaging Het
Eml5 A G 12: 98,784,104 (GRCm39) V1361A possibly damaging Het
Fancd2 A G 6: 113,570,278 (GRCm39) N1410D probably benign Het
Fbxw16 A G 9: 109,270,144 (GRCm39) F199S possibly damaging Het
Frem2 A G 3: 53,559,596 (GRCm39) V1637A possibly damaging Het
Gabrg2 A G 11: 41,803,220 (GRCm39) S442P probably damaging Het
Gprin3 T C 6: 59,331,966 (GRCm39) T114A possibly damaging Het
Hoxd8 A G 2: 74,536,912 (GRCm39) E27G probably damaging Het
Isl2 A G 9: 55,452,816 (GRCm39) probably null Het
Lamc2 T A 1: 153,012,529 (GRCm39) H715L probably benign Het
Lrif1 T C 3: 106,641,930 (GRCm39) V102A possibly damaging Het
Lrrc39 A G 3: 116,371,995 (GRCm39) N254S possibly damaging Het
Med13l T C 5: 118,883,178 (GRCm39) W1346R probably damaging Het
Melk T C 4: 44,360,930 (GRCm39) I570T probably damaging Het
Mlkl G A 8: 112,043,064 (GRCm39) T361M probably benign Het
Myo1f T A 17: 33,797,111 (GRCm39) M94K probably damaging Het
Naip1 A G 13: 100,580,876 (GRCm39) C124R probably damaging Het
Nek1 G A 8: 61,574,095 (GRCm39) probably null Het
Nrn1 C A 13: 36,914,080 (GRCm39) probably null Het
Pde1c G T 6: 56,150,651 (GRCm39) N289K probably damaging Het
Pfas G A 11: 68,879,103 (GRCm39) probably benign Het
Pms2 A T 5: 143,862,653 (GRCm39) I587F probably benign Het
Ppargc1b T C 18: 61,440,755 (GRCm39) E721G possibly damaging Het
Ppp2r1b A G 9: 50,790,127 (GRCm39) I435V probably benign Het
Psip1 C T 4: 83,376,357 (GRCm39) S494N probably benign Het
Ranbp3 T C 17: 57,017,766 (GRCm39) V474A probably benign Het
Rnf220 C T 4: 117,130,448 (GRCm39) C259Y probably damaging Het
Sdr16c6 T C 4: 4,076,603 (GRCm39) I99V probably benign Het
Slc36a1 A T 11: 55,116,879 (GRCm39) I303F probably benign Het
Slc4a1 C T 11: 102,249,972 (GRCm39) probably null Het
Syncrip A T 9: 88,361,862 (GRCm39) D84E probably damaging Het
Tbc1d9b T C 11: 50,043,657 (GRCm39) Y593H probably damaging Het
Tenm2 G T 11: 35,937,857 (GRCm39) Y1605* probably null Het
Tmem135 T A 7: 88,803,333 (GRCm39) H280L probably benign Het
Tmem229a T A 6: 24,955,121 (GRCm39) Q211L probably benign Het
Txlna T C 4: 129,534,201 (GRCm39) D5G probably damaging Het
Vmn2r57 T C 7: 41,098,056 (GRCm39) I4V probably benign Het
Wdfy3 A G 5: 102,055,453 (GRCm39) L1539S probably damaging Het
Zdhhc14 T G 17: 5,777,094 (GRCm39) probably null Het
Other mutations in Fads2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00931:Fads2 APN 19 10,043,649 (GRCm39) missense probably benign 0.02
IGL03340:Fads2 APN 19 10,069,136 (GRCm39) missense possibly damaging 0.76
sound UTSW 19 10,041,649 (GRCm39) missense probably damaging 1.00
PIT4677001:Fads2 UTSW 19 10,047,694 (GRCm39) missense probably damaging 1.00
R1437:Fads2 UTSW 19 10,069,193 (GRCm39) missense probably benign 0.00
R4827:Fads2 UTSW 19 10,059,958 (GRCm39) missense probably benign 0.03
R5367:Fads2 UTSW 19 10,041,649 (GRCm39) missense probably damaging 1.00
R5872:Fads2 UTSW 19 10,059,997 (GRCm39) missense probably benign 0.00
R7062:Fads2 UTSW 19 10,042,962 (GRCm39) splice site probably null
R9189:Fads2 UTSW 19 10,069,183 (GRCm39) missense probably benign
R9733:Fads2 UTSW 19 10,047,940 (GRCm39) missense probably damaging 0.99
Posted On 2015-12-18