Incidental Mutation 'R0299:Degs1'
ID 24771
Institutional Source Beutler Lab
Gene Symbol Degs1
Ensembl Gene ENSMUSG00000038633
Gene Name delta 4-desaturase, sphingolipid 1
Synonyms Des1, Mdes
MMRRC Submission 038513-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.157) question?
Stock # R0299 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 182103529-182110366 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 182106836 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 141 (I141N)
Ref Sequence ENSEMBL: ENSMUSP00000119473 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035295] [ENSMUST00000133052]
AlphaFold O09005
Predicted Effect probably damaging
Transcript: ENSMUST00000035295
AA Change: I177N

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000048519
Gene: ENSMUSG00000038633
AA Change: I177N

DomainStartEndE-ValueType
Lipid_DES 5 43 4.36e-20 SMART
Pfam:FA_desaturase 65 293 1.1e-26 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132551
Predicted Effect probably damaging
Transcript: ENSMUST00000133052
AA Change: I141N

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000119473
Gene: ENSMUSG00000038633
AA Change: I141N

DomainStartEndE-ValueType
low complexity region 3 20 N/A INTRINSIC
transmembrane domain 37 55 N/A INTRINSIC
Pfam:FA_desaturase 59 260 4.5e-20 PFAM
Meta Mutation Damage Score 0.9257 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.8%
  • 10x: 95.3%
  • 20x: 90.1%
Validation Efficiency 100% (61/61)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503L19Rik G A 18: 70,602,553 (GRCm39) Q87* probably null Het
4933427I04Rik A T 4: 123,754,615 (GRCm39) R176S possibly damaging Het
A2ml1 T G 6: 128,530,195 (GRCm39) probably benign Het
Abca13 G A 11: 9,248,076 (GRCm39) E2608K probably benign Het
Acp3 T C 9: 104,197,201 (GRCm39) E146G probably damaging Het
Adcy8 T A 15: 64,588,015 (GRCm39) D894V probably damaging Het
Ap4b1 T C 3: 103,717,262 (GRCm39) M1T probably null Het
Arg2 A G 12: 79,194,386 (GRCm39) D70G probably damaging Het
Atxn1 A G 13: 45,720,645 (GRCm39) S417P probably damaging Het
Btbd10 A T 7: 112,929,085 (GRCm39) S230T possibly damaging Het
Carmil1 T A 13: 24,266,003 (GRCm39) N253I probably damaging Het
Celf6 C A 9: 59,510,161 (GRCm39) T86K probably benign Het
Clec2h T C 6: 128,647,858 (GRCm39) V69A probably damaging Het
Col15a1 A T 4: 47,262,950 (GRCm39) D534V probably damaging Het
Col16a1 TCCCC TCCC 4: 129,952,111 (GRCm39) probably null Het
Dnah1 C T 14: 30,998,115 (GRCm39) G2574D probably damaging Het
Dnah8 T A 17: 30,934,483 (GRCm39) F1489L possibly damaging Het
Dock10 T C 1: 80,514,646 (GRCm39) R1424G probably damaging Het
Elp2 T C 18: 24,767,466 (GRCm39) I716T probably benign Het
Frk T C 10: 34,360,367 (GRCm39) probably null Het
Fshr C G 17: 89,316,713 (GRCm39) S169T probably benign Het
Gin1 T A 1: 97,710,741 (GRCm39) S141R possibly damaging Het
Gm11596 G A 11: 99,683,770 (GRCm39) P117S unknown Het
Gm6327 T C 16: 12,579,061 (GRCm39) noncoding transcript Het
Hepacam2 A G 6: 3,476,121 (GRCm39) L268P probably damaging Het
Hps6 G A 19: 45,992,671 (GRCm39) V203M probably damaging Het
Hsd17b7 G A 1: 169,787,363 (GRCm39) probably benign Het
Il18rap A T 1: 40,564,218 (GRCm39) H112L probably benign Het
Il1r2 T A 1: 40,162,309 (GRCm39) Y317* probably null Het
Ints8 C A 4: 11,246,097 (GRCm39) V190L probably benign Het
Me2 A G 18: 73,903,744 (GRCm39) S575P probably benign Het
Mecom A G 3: 30,034,560 (GRCm39) L372P probably benign Het
Mss51 T A 14: 20,534,756 (GRCm39) Q338L possibly damaging Het
Muc2 C T 7: 141,306,466 (GRCm39) T296I probably damaging Het
Muc4 A T 16: 32,569,013 (GRCm39) probably benign Het
Neto1 G A 18: 86,479,445 (GRCm39) R211Q probably benign Het
Nisch A G 14: 30,893,881 (GRCm39) Y1231H probably damaging Het
Or10ak14 A T 4: 118,611,732 (GRCm39) M1K probably null Het
Or10ak9 A G 4: 118,726,613 (GRCm39) I212V probably benign Het
Pcsk6 T C 7: 65,688,791 (GRCm39) V820A probably benign Het
Pdcd10 T C 3: 75,434,958 (GRCm39) K111R probably damaging Het
Pdgfrb T A 18: 61,201,924 (GRCm39) V496E probably benign Het
Pelo A T 13: 115,225,439 (GRCm39) C40* probably null Het
Plxnc1 C T 10: 94,685,683 (GRCm39) probably null Het
Ptpru G A 4: 131,530,698 (GRCm39) Q519* probably null Het
Pzp A G 6: 128,472,293 (GRCm39) probably benign Het
Rad21 A T 15: 51,828,426 (GRCm39) D547E probably benign Het
Serpina1d A T 12: 103,732,016 (GRCm39) L281Q probably damaging Het
Serpina9 T C 12: 103,967,729 (GRCm39) N222S probably benign Het
Sh3bgrl2 A G 9: 83,459,612 (GRCm39) K57E probably damaging Het
Shtn1 T C 19: 59,007,383 (GRCm39) E289G probably benign Het
Sik3 T C 9: 46,120,038 (GRCm39) M659T possibly damaging Het
Slamf7 G A 1: 171,476,499 (GRCm39) probably benign Het
Sppl3 T A 5: 115,227,053 (GRCm39) probably benign Het
Suco G A 1: 161,681,379 (GRCm39) T253I probably benign Het
Tecta T C 9: 42,263,359 (GRCm39) D1409G probably damaging Het
Tram2 T C 1: 21,074,468 (GRCm39) D238G probably damaging Het
Trpm3 T C 19: 22,964,237 (GRCm39) M1244T possibly damaging Het
Trub1 A G 19: 57,472,057 (GRCm39) T178A possibly damaging Het
Ugcg G C 4: 59,217,036 (GRCm39) V187L possibly damaging Het
Vmn1r25 T A 6: 57,955,494 (GRCm39) Q265L probably damaging Het
Zfp821 G T 8: 110,450,862 (GRCm39) R285L 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
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
R7905:Degs1 UTSW 1 182,106,601 (GRCm39) missense possibly damaging 0.72
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
(F):5'- ATGATAGCCCACATTGAAGGTGAGC -3'
(R):5'- TGCCTTAACCACTCCATGACTCTGG -3'

Sequencing Primer
(F):5'- CGTGTCCCTTCAAGAACATGTAATG -3'
(R):5'- CATGACTCTGGCTATCCATGAG -3'
Posted On 2013-04-16