Incidental Mutation 'IGL01536:Fads1'
ID89960
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fads1
Ensembl Gene ENSMUSG00000010663
Gene Namefatty acid desaturase 1
SynonymsA930006B21Rik, 0710001O03Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01536
Quality Score
Status
Chromosome19
Chromosomal Location10182888-10196870 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 10194030 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Lysine at position 342 (Q342K)
Ref Sequence ENSEMBL: ENSMUSP00000010807 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010807]
Predicted Effect probably benign
Transcript: ENSMUST00000010807
AA Change: Q342K

PolyPhen 2 Score 0.356 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000010807
Gene: ENSMUSG00000010663
AA Change: Q342K

DomainStartEndE-ValueType
Cyt-b5 22 97 1.32e-19 SMART
transmembrane domain 134 156 N/A INTRINSIC
Pfam:FA_desaturase 158 421 7.4e-35 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150038
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184912
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: Mice homozygous for a knock-out allele exhibit arachidonic acid deficiency with premature lethality and altered prostaglandin levels. Heterozygous mice exhibit an intermediate phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp5a1 T C 18: 77,780,312 probably benign Het
Ccnc A G 4: 21,732,505 I81V probably benign Het
Cep112 A G 11: 108,531,411 D560G probably null Het
Dis3 A G 14: 99,079,423 Y826H probably damaging Het
Dtx2 A G 5: 136,010,086 probably benign Het
Enpp4 T C 17: 44,099,603 K361E possibly damaging Het
Erap1 A T 13: 74,662,423 K294* probably null Het
Erbb4 T A 1: 68,290,282 Y636F probably benign Het
Fntb A T 12: 76,920,130 T447S probably benign Het
Hdac4 A G 1: 91,930,146 probably benign Het
Kcnh2 A G 5: 24,326,524 I463T probably damaging Het
Kif13a G T 13: 46,752,289 T726K probably damaging Het
Lcmt1 T C 7: 123,422,743 S275P possibly damaging Het
Lmnb1 T C 18: 56,740,796 S425P probably benign Het
Lrp1b T C 2: 41,110,883 I2224V probably benign Het
Lrrc45 A T 11: 120,715,584 T173S probably benign Het
Muc4 T C 16: 32,763,966 Y2590H possibly damaging Het
Myo18a C T 11: 77,820,851 P676L probably damaging Het
Olfr1023 T C 2: 85,887,600 S267P probably damaging Het
Pcdhb15 T C 18: 37,474,993 M426T probably benign Het
Pik3cd A G 4: 149,652,666 V891A probably damaging Het
Polr1b A G 2: 129,125,555 N956S probably benign Het
Ppil3 T C 1: 58,444,591 M1V probably null Het
Rad1 T A 15: 10,493,200 S238T possibly damaging Het
Shc3 A C 13: 51,516,559 S51A probably damaging Het
Slc9c1 T C 16: 45,589,629 probably null Het
Smg5 A G 3: 88,349,245 K273E possibly damaging Het
Sntg1 C T 1: 8,583,200 probably null Het
Sstr4 T C 2: 148,395,880 L137P probably damaging Het
Taar8b C T 10: 24,091,595 V234I probably benign Het
Tbc1d9 A G 8: 83,260,992 Y860C probably damaging Het
Tll1 A T 8: 64,074,289 S399R probably damaging Het
Tns1 T C 1: 73,919,648 probably benign Het
Trim10 T A 17: 36,877,288 probably null Het
Ttn C T 2: 76,732,351 probably null Het
Usp43 T C 11: 67,855,938 D981G probably benign Het
Vmn2r108 A T 17: 20,463,281 C554S probably damaging Het
Vmn2r112 T A 17: 22,605,155 Y464N probably damaging Het
Vmn2r31 T C 7: 7,384,848 K575E probably damaging Het
Vmn2r50 C T 7: 10,037,683 C697Y probably damaging Het
Zcchc8 A C 5: 123,720,719 probably null Het
Other mutations in Fads1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01512:Fads1 APN 19 10183142 missense probably benign 0.02
IGL02642:Fads1 APN 19 10186421 missense probably damaging 1.00
teewinot UTSW 19 10185727 nonsense probably null
R0023:Fads1 UTSW 19 10186897 splice site probably benign
R0023:Fads1 UTSW 19 10186897 splice site probably benign
R0367:Fads1 UTSW 19 10183065 missense probably benign 0.12
R0464:Fads1 UTSW 19 10183065 missense probably benign 0.12
R0465:Fads1 UTSW 19 10183065 missense probably benign 0.12
R0534:Fads1 UTSW 19 10183065 missense probably benign 0.12
R0848:Fads1 UTSW 19 10183065 missense probably benign 0.12
R1456:Fads1 UTSW 19 10185752 missense probably benign 0.06
R1697:Fads1 UTSW 19 10194100 splice site probably benign
R5576:Fads1 UTSW 19 10185874 missense probably benign 0.00
R5640:Fads1 UTSW 19 10186403 missense probably damaging 1.00
R6243:Fads1 UTSW 19 10185727 nonsense probably null
R6379:Fads1 UTSW 19 10183187 missense probably damaging 1.00
R7593:Fads1 UTSW 19 10184997 missense probably damaging 1.00
R7845:Fads1 UTSW 19 10194041 missense probably damaging 1.00
R7928:Fads1 UTSW 19 10194041 missense probably damaging 1.00
Z1176:Fads1 UTSW 19 10193704 missense probably damaging 1.00
Posted On2013-12-03