Incidental Mutation 'R0534:Fads1'
ID 216212
Institutional Source Beutler Lab
Gene Symbol Fads1
Ensembl Gene ENSMUSG00000010663
Gene Name fatty acid desaturase 1
Synonyms A930006B21Rik, 0710001O03Rik
MMRRC Submission 038726-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0534 (G1)
Quality Score 39
Status Validated
Chromosome 19
Chromosomal Location 10160252-10174241 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 10160429 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 5 (P5L)
Ref Sequence ENSEMBL: ENSMUSP00000010807 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010807]
AlphaFold Q920L1
Predicted Effect probably benign
Transcript: ENSMUST00000010807
AA Change: P5L

PolyPhen 2 Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000010807
Gene: ENSMUSG00000010663
AA Change: P5L

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
Meta Mutation Damage Score 0.0838 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.8%
Validation Efficiency 96% (47/49)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cand2 A G 6: 115,764,197 (GRCm39) M324V probably damaging Het
Cap1 C T 4: 122,756,512 (GRCm39) V340M probably benign Het
Ccdc110 T C 8: 46,388,175 (GRCm39) V44A possibly damaging Het
Cps1 A G 1: 67,183,059 (GRCm39) D139G probably benign Het
Cwc27 T A 13: 104,768,124 (GRCm39) E457V unknown Het
Cxxc1 C T 18: 74,351,962 (GRCm39) P280S probably benign Het
Dennd2b A T 7: 109,140,635 (GRCm39) V197D probably damaging Het
Dop1b T A 16: 93,559,393 (GRCm39) L595Q probably benign Het
Dscam G T 16: 96,453,372 (GRCm39) S1292R possibly damaging Het
E2f4 C A 8: 106,030,851 (GRCm39) F353L probably damaging Het
Ep300 A G 15: 81,485,097 (GRCm39) probably benign Het
Fign T A 2: 63,811,135 (GRCm39) H45L probably damaging Het
Flcn T A 11: 59,685,025 (GRCm39) probably benign Het
Gm5141 A T 13: 62,922,408 (GRCm39) F254I probably damaging Het
Gpbp1l1 T A 4: 116,448,465 (GRCm39) N402K probably damaging Het
Gpr37 A T 6: 25,669,823 (GRCm39) C340* probably null Het
Gtf3c2 A T 5: 31,315,476 (GRCm39) probably benign Het
Hcfc2 T A 10: 82,574,242 (GRCm39) F139I probably damaging Het
Hectd4 T C 5: 121,486,539 (GRCm39) L3178P possibly damaging Het
Hrc AGAGGAGGAGGAAGAGGAGGAGGA AGAGGAGGAGGAGGAAGAGGAGGAGGA 7: 44,986,659 (GRCm39) probably benign Het
Igf2bp1 A G 11: 95,857,622 (GRCm39) probably benign Het
Igsf9b T G 9: 27,244,358 (GRCm39) probably null Het
Il23r G A 6: 67,403,572 (GRCm39) A443V probably benign Het
Kcnv1 A G 15: 44,972,645 (GRCm39) F413L probably damaging Het
Lipe C A 7: 25,087,611 (GRCm39) A150S possibly damaging Het
Lrrcc1 T C 3: 14,622,333 (GRCm39) S557P probably damaging Het
Mrpl54 C A 10: 81,102,687 (GRCm39) W13L probably damaging Het
Mtcl3 T A 10: 29,056,952 (GRCm39) probably benign Het
Myrf G C 19: 10,195,526 (GRCm39) T428S probably benign Het
Npy1r C A 8: 67,157,670 (GRCm39) Q327K probably damaging Het
Nt5el C A 13: 105,218,762 (GRCm39) S32* probably null Het
Or51b17 C T 7: 103,542,438 (GRCm39) R168H probably benign Het
Osbpl10 C T 9: 114,996,246 (GRCm39) L139F probably damaging Het
P2rx6 A C 16: 17,385,768 (GRCm39) T199P probably damaging Het
Phyhip A T 14: 70,699,199 (GRCm39) M1L possibly damaging Het
Pkd1l3 C G 8: 110,350,281 (GRCm39) D375E possibly damaging Het
Psmc1 T A 12: 100,086,389 (GRCm39) I342N possibly damaging Het
Reln A T 5: 22,152,406 (GRCm39) D2353E probably damaging Het
Rmdn3 T C 2: 118,976,851 (GRCm39) E294G probably benign Het
Scnn1g A G 7: 121,366,647 (GRCm39) M615V probably benign Het
Shcbp1l T A 1: 153,304,314 (GRCm39) D124E possibly damaging Het
Sipa1l1 T C 12: 82,472,054 (GRCm39) S1345P possibly damaging Het
Taf7l2 T C 10: 115,948,707 (GRCm39) E273G possibly damaging Het
Timp4 A G 6: 115,226,802 (GRCm39) Y114H probably damaging Het
Tlr9 T A 9: 106,102,086 (GRCm39) L459Q probably benign Het
Tmem104 C A 11: 115,091,654 (GRCm39) T59K probably damaging Het
Wdr59 GGGTGGTG GGGTG 8: 112,207,172 (GRCm39) probably benign Het
Zfp622 A T 15: 25,984,654 (GRCm39) I7F possibly damaging 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
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
R5640:Fads1 UTSW 19 10,163,767 (GRCm39) missense probably damaging 1.00
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'- AGTCTGTCTTTGCTACCCGAGAGAG -3'
(R):5'- CAACCAGCCCTTTGTTTGAGTGTG -3'

Sequencing Primer
(F):5'- ACTCGGCTCAGCCAATG -3'
(R):5'- AGATGCGCCTATTGTCCG -3'
Posted On 2014-07-31