Incidental Mutation 'R5640:Fads1'
ID 440642
Institutional Source Beutler Lab
Gene Symbol Fads1
Ensembl Gene ENSMUSG00000010663
Gene Name fatty acid desaturase 1
Synonyms A930006B21Rik, 0710001O03Rik
MMRRC Submission 043289-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5640 (G1)
Quality Score 170
Status Not validated
Chromosome 19
Chromosomal Location 10160252-10174241 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 10163767 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 183 (D183G)
Ref Sequence ENSEMBL: ENSMUSP00000010807 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010807]
AlphaFold Q920L1
Predicted Effect probably damaging
Transcript: ENSMUST00000010807
AA Change: D183G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000010807
Gene: ENSMUSG00000010663
AA Change: D183G

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: ENSMUST00000184912
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.7%
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ace A G 11: 105,861,511 (GRCm39) Y220C probably damaging Het
Actl6a A G 3: 32,772,199 (GRCm39) T170A probably damaging Het
Adamts8 T C 9: 30,867,796 (GRCm39) V540A probably benign Het
Aga T C 8: 53,964,919 (GRCm39) L27P probably damaging Het
Agmat T A 4: 141,483,134 (GRCm39) H189Q probably damaging Het
Alx3 C A 3: 107,507,977 (GRCm39) T162K probably damaging Het
Armc2 T A 10: 41,887,894 (GRCm39) I30L possibly damaging Het
Atp10d T G 5: 72,404,552 (GRCm39) Y487D probably damaging Het
Atp13a4 C T 16: 29,234,649 (GRCm39) M908I probably damaging Het
B4galt2 T G 4: 117,731,195 (GRCm39) N322T probably benign Het
Bmal1 C T 7: 112,907,888 (GRCm39) P530L probably damaging Het
Brdt A T 5: 107,507,174 (GRCm39) K525* probably null Het
Ccdc168 T C 1: 44,101,087 (GRCm39) I4V probably benign Het
Ces3a T A 8: 105,778,377 (GRCm39) M246K probably benign Het
Chd9 T A 8: 91,763,190 (GRCm39) H2338Q probably damaging Het
Cyp3a16 T A 5: 145,389,633 (GRCm39) D244V possibly damaging Het
Dhrs9 C A 2: 69,224,822 (GRCm39) A170E probably damaging Het
Dlg5 T C 14: 24,220,529 (GRCm39) N550D probably damaging Het
Dnah8 C T 17: 31,022,082 (GRCm39) T3894I probably damaging Het
Dpys T C 15: 39,705,462 (GRCm39) H217R probably damaging Het
Dpysl2 C T 14: 67,071,817 (GRCm39) V108I probably benign Het
Eprs1 A G 1: 185,106,381 (GRCm39) T199A probably benign Het
Fam110b T G 4: 5,798,689 (GRCm39) Y36D probably damaging Het
Fbxl21 G A 13: 56,685,194 (GRCm39) D407N probably benign Het
Fuca2 G A 10: 13,383,174 (GRCm39) probably null Het
Gnas C A 2: 174,126,764 (GRCm39) R100S probably benign Het
Gse1 A G 8: 121,289,416 (GRCm39) H90R possibly damaging Het
Hoxc10 G T 15: 102,875,702 (GRCm39) C137F probably benign Het
Ipp T G 4: 116,377,886 (GRCm39) L252R possibly damaging Het
Jmjd1c T A 10: 67,061,857 (GRCm39) S1403R probably benign Het
Kif19a A G 11: 114,670,041 (GRCm39) M79V probably benign Het
Lipo4 T C 19: 33,478,986 (GRCm39) T285A possibly damaging Het
Lrrc66 A T 5: 73,765,977 (GRCm39) D355E probably benign Het
Lrsam1 T A 2: 32,835,864 (GRCm39) Q301L probably benign Het
Med6 C T 12: 81,628,628 (GRCm39) R138Q probably damaging Het
Nlrc5 A G 8: 95,202,421 (GRCm39) T174A probably benign Het
Nrbp1 C T 5: 31,406,929 (GRCm39) R322W possibly damaging Het
Or10ak14 T A 4: 118,610,986 (GRCm39) T250S probably benign Het
Or11g24 C A 14: 50,662,111 (GRCm39) A45D probably benign Het
Or4a47 T A 2: 89,666,282 (GRCm39) E2D probably benign Het
Pde3a A G 6: 141,429,641 (GRCm39) E734G probably damaging Het
Pgap6 C T 17: 26,337,846 (GRCm39) T410I possibly damaging Het
Pnpla7 C T 2: 24,893,013 (GRCm39) T167I possibly damaging Het
Pop7 T C 5: 137,500,321 (GRCm39) N4S possibly damaging Het
Ppm1h C A 10: 122,618,183 (GRCm39) P114Q probably benign Het
Prdm16 T C 4: 154,426,367 (GRCm39) T473A probably benign Het
Prdm6 T C 18: 53,669,813 (GRCm39) probably null Het
Prkdc T G 16: 15,647,633 (GRCm39) W3686G possibly damaging Het
Ptchd4 C A 17: 42,814,026 (GRCm39) H642Q possibly damaging Het
Rad1 A G 15: 10,496,009 (GRCm39) Y228C possibly damaging Het
Rgs22 G A 15: 36,107,101 (GRCm39) T56I probably benign Het
Rnf135 C A 11: 80,084,733 (GRCm39) H169N probably benign Het
Rnft1 C T 11: 86,377,319 (GRCm39) Q128* probably null Het
Sez6 T C 11: 77,864,585 (GRCm39) probably benign Het
Sh3rf3 A G 10: 58,649,769 (GRCm39) S125G probably benign Het
Sik2 T C 9: 50,826,806 (GRCm39) E295G possibly damaging Het
Themis A G 10: 28,739,372 (GRCm39) Q614R probably damaging Het
Thsd7b T A 1: 130,044,408 (GRCm39) C1129* probably null Het
Tmem68 A T 4: 3,569,512 (GRCm39) F59L probably benign Het
Vmn2r107 A G 17: 20,595,426 (GRCm39) T660A probably damaging Het
Vwa5b2 G T 16: 20,416,292 (GRCm39) C484F probably damaging Het
Zfp418 T A 7: 7,184,980 (GRCm39) C314* probably null Het
Other mutations in Fads1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01512:Fads1 APN 19 10,160,506 (GRCm39) missense probably benign 0.02
IGL01536:Fads1 APN 19 10,171,394 (GRCm39) missense probably benign 0.36
IGL02642:Fads1 APN 19 10,163,785 (GRCm39) missense probably damaging 1.00
big_belt UTSW 19 10,170,325 (GRCm39) nonsense probably null
teewinot UTSW 19 10,163,091 (GRCm39) nonsense probably null
R0023:Fads1 UTSW 19 10,164,261 (GRCm39) splice site probably benign
R0023:Fads1 UTSW 19 10,164,261 (GRCm39) splice site probably benign
R0367:Fads1 UTSW 19 10,160,429 (GRCm39) missense probably benign 0.12
R0464:Fads1 UTSW 19 10,160,429 (GRCm39) missense probably benign 0.12
R0465:Fads1 UTSW 19 10,160,429 (GRCm39) missense probably benign 0.12
R0534:Fads1 UTSW 19 10,160,429 (GRCm39) missense probably benign 0.12
R0848:Fads1 UTSW 19 10,160,429 (GRCm39) missense probably benign 0.12
R1456:Fads1 UTSW 19 10,163,116 (GRCm39) missense probably benign 0.06
R1697:Fads1 UTSW 19 10,171,464 (GRCm39) splice site probably benign
R5576:Fads1 UTSW 19 10,163,238 (GRCm39) missense probably benign 0.00
R6243:Fads1 UTSW 19 10,163,091 (GRCm39) nonsense probably null
R6379:Fads1 UTSW 19 10,160,551 (GRCm39) missense probably damaging 1.00
R7593:Fads1 UTSW 19 10,162,361 (GRCm39) missense probably damaging 1.00
R7845:Fads1 UTSW 19 10,171,405 (GRCm39) missense probably damaging 1.00
R8787:Fads1 UTSW 19 10,170,325 (GRCm39) nonsense probably null
R8856:Fads1 UTSW 19 10,170,276 (GRCm39) missense probably benign 0.05
R9090:Fads1 UTSW 19 10,163,162 (GRCm39) missense probably damaging 1.00
R9271:Fads1 UTSW 19 10,163,162 (GRCm39) missense probably damaging 1.00
Z1176:Fads1 UTSW 19 10,171,068 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCAGCTCACATGTGACTCAGG -3'
(R):5'- CCCCTACAGAGAATTGCGAATG -3'

Sequencing Primer
(F):5'- CATGTGACTCAGGGGCCAAG -3'
(R):5'- GCTCGTGGCATACAGATATACCCTG -3'
Posted On 2016-11-08