Incidental Mutation 'IGL00931:Fads2'
ID 29512
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 # IGL00931
Quality Score
Status
Chromosome 19
Chromosomal Location 10040129-10078867 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 10043649 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 348 (D348E)
Ref Sequence ENSEMBL: ENSMUSP00000025567 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025567]
AlphaFold Q9Z0R9
Predicted Effect probably benign
Transcript: ENSMUST00000025567
AA Change: D348E

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000025567
Gene: ENSMUSG00000024665
AA Change: D348E

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: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh1a2 G A 9: 71,123,251 (GRCm39) probably benign Het
Col24a1 A G 3: 145,167,225 (GRCm39) M1101V probably benign Het
Cyp4a12a G A 4: 115,159,153 (GRCm39) R141Q possibly damaging Het
Ddx60 C T 8: 62,422,617 (GRCm39) S618L probably benign Het
Dnmt3b T A 2: 153,528,170 (GRCm39) probably benign Het
Dzip3 A T 16: 48,755,860 (GRCm39) probably null Het
Gpcpd1 G T 2: 132,380,038 (GRCm39) F434L probably benign Het
Hnrnpm C A 17: 33,868,876 (GRCm39) R517L probably damaging Het
Hoxa7 T C 6: 52,194,286 (GRCm39) N34D possibly damaging Het
Ifitm1 A T 7: 140,548,169 (GRCm39) M1L probably damaging Het
Lama2 G A 10: 26,882,772 (GRCm39) S605L possibly damaging Het
Myh7b A G 2: 155,472,212 (GRCm39) D1261G probably damaging Het
Ndufs3 A G 2: 90,732,846 (GRCm39) probably null Het
Nedd4l T C 18: 65,305,470 (GRCm39) I297T possibly damaging Het
Nfe2l2 A G 2: 75,506,342 (GRCm39) V586A probably damaging Het
Slc1a2 T A 2: 102,586,457 (GRCm39) W354R probably damaging Het
Slc35c1 T C 2: 92,289,239 (GRCm39) D89G probably benign Het
Tcaf3 T C 6: 42,574,162 (GRCm39) T17A probably benign Het
Vmn2r72 T A 7: 85,398,854 (GRCm39) M500L probably benign Het
Other mutations in Fads2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02801:Fads2 APN 19 10,060,009 (GRCm39) missense possibly damaging 0.88
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 2013-04-17