Incidental Mutation 'R7905:Degs1'
ID 610206
Institutional Source Beutler Lab
Gene Symbol Degs1
Ensembl Gene ENSMUSG00000038633
Gene Name delta 4-desaturase, sphingolipid 1
Synonyms Des1, Mdes
MMRRC Submission 045957-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.205) question?
Stock # R7905 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 182103529-182110366 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 182106601 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 255 (N255K)
Ref Sequence ENSEMBL: ENSMUSP00000048519 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035295] [ENSMUST00000133052]
AlphaFold O09005
Predicted Effect possibly damaging
Transcript: ENSMUST00000035295
AA Change: N255K

PolyPhen 2 Score 0.724 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000048519
Gene: ENSMUSG00000038633
AA Change: N255K

Lipid_DES 5 43 4.36e-20 SMART
Pfam:FA_desaturase 65 293 1.1e-26 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000133052
AA Change: N219K

PolyPhen 2 Score 0.724 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000119473
Gene: ENSMUSG00000038633
AA Change: N219K

low complexity region 3 20 N/A INTRINSIC
transmembrane domain 37 55 N/A INTRINSIC
Pfam:FA_desaturase 59 260 4.5e-20 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (44/44)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the membrane fatty acid desaturase family which is responsible for inserting double bonds into specific positions in fatty acids. This protein contains three His-containing consensus motifs that are characteristic of a group of membrane fatty acid desaturases. It is predicted to be a multiple membrane-spanning protein localized to the endoplasmic reticulum. Overexpression of this gene inhibited biosynthesis of the EGF receptor, suggesting a possible role of a fatty acid desaturase in regulating biosynthetic processing of the EGF receptor. [provided by RefSeq, Mar 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit premature death, decreased to absent ceramide levels, decreased body weight, scaly skin, sparse hair, tremors, hematological and blood chemistry abnormalities, decreased bone mineral content and density and decreased liver function. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl9 T C 17: 33,652,801 (GRCm39) V287A possibly damaging Het
Adcy10 T A 1: 165,340,737 (GRCm39) probably null Het
Aox1 G A 1: 58,143,557 (GRCm39) S1225N possibly damaging Het
B430306N03Rik T A 17: 48,623,988 (GRCm39) S96R probably benign Het
Bpifa5 T C 2: 154,007,508 (GRCm39) I150T probably damaging Het
Ccdc28a A T 10: 18,094,076 (GRCm39) V181D probably benign Het
Cd40 T C 2: 164,904,245 (GRCm39) Y31H probably damaging Het
Cep290 A G 10: 100,390,352 (GRCm39) T2032A probably benign Het
Cnbd1 T C 4: 18,907,100 (GRCm39) K158R possibly damaging Het
Dll3 T G 7: 28,000,960 (GRCm39) I32L possibly damaging Het
Dsg4 A T 18: 20,587,726 (GRCm39) I278F probably damaging Het
Ets2 T A 16: 95,507,304 (GRCm39) I6N probably damaging Het
Gbp4 A G 5: 105,268,953 (GRCm39) F400S probably damaging Het
Golgb1 C T 16: 36,734,047 (GRCm39) A1139V probably benign Het
Hfm1 A T 5: 107,046,419 (GRCm39) L489H probably damaging Het
Kcna5 T C 6: 126,511,831 (GRCm39) D99G probably benign Het
Ldhc A G 7: 46,524,955 (GRCm39) probably null Het
Mief1 C G 15: 80,133,599 (GRCm39) P219A probably damaging Het
Myh11 A T 16: 14,025,545 (GRCm39) Y1408* probably null Het
Myo1b A G 1: 51,803,043 (GRCm39) probably null Het
Nedd4 A T 9: 72,584,661 (GRCm39) K121* probably null Het
Nek9 A C 12: 85,352,370 (GRCm39) M831R probably damaging Het
Nf1 G A 11: 79,437,938 (GRCm39) A83T possibly damaging Het
Or6c203 A T 10: 129,010,056 (GRCm39) I278N probably damaging Het
Osbpl10 T C 9: 114,891,078 (GRCm39) probably null Het
Pcdhb6 T C 18: 37,467,607 (GRCm39) L176P probably benign Het
Plxnb1 G A 9: 108,938,300 (GRCm39) V1285M probably damaging Het
Psg26 T A 7: 18,209,242 (GRCm39) M389L probably benign Het
Slc49a4 G A 16: 35,589,320 (GRCm39) P98S probably benign Het
Slc4a10 A G 2: 62,098,495 (GRCm39) E543G probably damaging Het
Spata31h1 A G 10: 82,131,936 (GRCm39) I358T probably benign Het
Spink7 G T 18: 62,725,487 (GRCm39) C85* probably null Het
Stard9 T C 2: 120,526,562 (GRCm39) W940R not run Het
Susd2 A T 10: 75,475,491 (GRCm39) L471* probably null Het
Taf2 A T 15: 54,910,828 (GRCm39) D615E possibly damaging Het
Taf4 G A 2: 179,573,822 (GRCm39) T682M probably damaging Het
Tfdp2 T C 9: 96,192,659 (GRCm39) S14P Het
Tha1 A C 11: 117,761,893 (GRCm39) V116G possibly damaging Het
Trim46 T C 3: 89,151,633 (GRCm39) H50R probably damaging Het
Trit1 A G 4: 122,910,508 (GRCm39) K36E probably damaging Het
Ttc13 A T 8: 125,415,335 (GRCm39) M268K probably benign Het
Ufc1 T A 1: 171,117,508 (GRCm39) K68N probably damaging Het
Zbbx T C 3: 74,992,820 (GRCm39) T225A probably benign Het
Zfp768 T C 7: 126,943,831 (GRCm39) E102G probably damaging Het
Other mutations in Degs1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00977:Degs1 APN 1 182,106,774 (GRCm39) missense probably benign 0.34
IGL01766:Degs1 APN 1 182,106,660 (GRCm39) missense probably damaging 1.00
IGL02237:Degs1 APN 1 182,107,253 (GRCm39) missense probably damaging 0.97
IGL02578:Degs1 APN 1 182,106,592 (GRCm39) nonsense probably null
IGL03200:Degs1 APN 1 182,107,256 (GRCm39) start codon destroyed probably null 1.00
R0087:Degs1 UTSW 1 182,106,875 (GRCm39) missense probably benign 0.00
R0126:Degs1 UTSW 1 182,107,257 (GRCm39) start codon destroyed probably null 0.85
R0299:Degs1 UTSW 1 182,106,836 (GRCm39) missense probably damaging 0.99
R4157:Degs1 UTSW 1 182,110,192 (GRCm39) missense possibly damaging 0.83
R4260:Degs1 UTSW 1 182,106,806 (GRCm39) missense probably benign
R4520:Degs1 UTSW 1 182,104,373 (GRCm39) missense possibly damaging 0.95
R4606:Degs1 UTSW 1 182,104,388 (GRCm39) missense probably damaging 0.99
R4888:Degs1 UTSW 1 182,104,370 (GRCm39) missense probably damaging 0.98
R5366:Degs1 UTSW 1 182,106,927 (GRCm39) missense probably benign 0.08
R6574:Degs1 UTSW 1 182,106,638 (GRCm39) missense probably damaging 1.00
R7023:Degs1 UTSW 1 182,106,630 (GRCm39) missense probably damaging 0.99
R7164:Degs1 UTSW 1 182,106,690 (GRCm39) missense probably damaging 0.99
R7633:Degs1 UTSW 1 182,107,263 (GRCm39) missense probably damaging 1.00
R7894:Degs1 UTSW 1 182,104,417 (GRCm39) missense probably benign 0.00
R7894:Degs1 UTSW 1 182,104,416 (GRCm39) missense probably damaging 0.97
R8233:Degs1 UTSW 1 182,107,160 (GRCm39) missense probably benign 0.36
R8296:Degs1 UTSW 1 182,110,241 (GRCm39) missense probably benign 0.43
R8974:Degs1 UTSW 1 182,107,278 (GRCm39) missense probably benign 0.16
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2019-12-20