Incidental Mutation 'R0087:Degs1'
ID 19931
Institutional Source Beutler Lab
Gene Symbol Degs1
Ensembl Gene ENSMUSG00000038633
Gene Name delta 4-desaturase, sphingolipid 1
Synonyms Des1, Mdes
MMRRC Submission 038374-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.205) question?
Stock # R0087 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 1
Chromosomal Location 182103529-182110366 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 182106875 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 128 (I128T)
Ref Sequence ENSEMBL: ENSMUSP00000119473 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035295] [ENSMUST00000133052]
AlphaFold O09005
Predicted Effect probably benign
Transcript: ENSMUST00000035295
AA Change: I164T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000048519
Gene: ENSMUSG00000038633
AA Change: I164T

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 benign
Transcript: ENSMUST00000133052
AA Change: I128T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000119473
Gene: ENSMUSG00000038633
AA Change: I128T

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 0.1050 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.6%
  • 10x: 93.5%
  • 20x: 82.3%
Validation Efficiency 86% (59/69)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Add3 T A 19: 53,215,038 (GRCm39) L71Q probably damaging Het
Adgrv1 T A 13: 81,535,070 (GRCm39) I5732F probably damaging Het
Adss2 A T 1: 177,598,788 (GRCm39) V330E probably benign Het
Agps T A 2: 75,739,979 (GRCm39) Y488N probably damaging Het
Ap3s1 A T 18: 46,891,106 (GRCm39) R66S probably damaging Het
Ass1 A T 2: 31,404,831 (GRCm39) N371Y probably damaging Het
Atp2a2 C T 5: 122,599,024 (GRCm39) V593I probably benign Het
Chrna6 C T 8: 27,897,014 (GRCm39) V288M probably damaging Het
Col4a2 C T 8: 11,491,296 (GRCm39) L1232F probably benign Het
Dcaf1 A G 9: 106,740,288 (GRCm39) N1225D probably damaging Het
Dnaaf11 T C 15: 66,341,824 (GRCm39) T91A probably benign Het
Dnah5 A T 15: 28,350,759 (GRCm39) T2594S probably damaging Het
Dnah8 G T 17: 30,974,093 (GRCm39) R2826L probably damaging Het
Elf3 A G 1: 135,184,875 (GRCm39) Y104H probably damaging Het
Fam222b C A 11: 78,044,718 (GRCm39) T93N probably benign Het
Fbxw26 A G 9: 109,554,006 (GRCm39) I211T probably benign Het
Fcho2 T C 13: 98,871,594 (GRCm39) T541A probably benign Het
Flg2 T C 3: 93,109,738 (GRCm39) S589P unknown Het
Foxj3 T A 4: 119,483,597 (GRCm39) V589E unknown Het
Gria1 A G 11: 57,208,538 (GRCm39) Y742C probably damaging Het
Inpp5d T C 1: 87,642,860 (GRCm39) S672P probably damaging Het
Lrrc19 A C 4: 94,529,009 (GRCm39) F91C probably damaging Het
Mppe1 A G 18: 67,358,775 (GRCm39) *398R probably null Het
Mroh3 T C 1: 136,118,541 (GRCm39) I561V probably benign Het
Myh11 C A 16: 14,041,883 (GRCm39) Q720H probably damaging Het
Nbea G T 3: 55,998,444 (GRCm39) T121K possibly damaging Het
Nbr1 A C 11: 101,455,519 (GRCm39) D91A probably benign Het
Ncam2 C A 16: 81,231,789 (GRCm39) N84K probably benign Het
Or4c35 T C 2: 89,808,475 (GRCm39) Y118H probably damaging Het
Or51ac3 A T 7: 103,213,569 (GRCm39) C306S probably benign Het
Or52h9 A G 7: 104,202,869 (GRCm39) I248V possibly damaging Het
Or52z13 A G 7: 103,246,928 (GRCm39) Y135C probably benign Het
Or6b6 A G 7: 106,571,323 (GRCm39) V76A probably benign Het
Pdgfrb A T 18: 61,194,585 (GRCm39) I121F probably damaging Het
Peak1 A T 9: 56,165,609 (GRCm39) I773N probably damaging Het
Pfkfb4 G T 9: 108,836,769 (GRCm39) V155F probably damaging Het
Pkm C T 9: 59,585,382 (GRCm39) R455* probably null Het
Plbd2 C A 5: 120,632,550 (GRCm39) E151* probably null Het
Pld5 G A 1: 175,812,025 (GRCm39) T353M probably damaging Het
Psme2b A T 11: 48,836,544 (GRCm39) D134E possibly damaging Het
Rida T A 15: 34,488,772 (GRCm39) D40V possibly damaging Het
Rnf126 A T 10: 79,595,068 (GRCm39) H265Q probably damaging Het
Rock2 C A 12: 16,978,967 (GRCm39) Q86K probably benign Het
Serpinb1b A T 13: 33,269,302 (GRCm39) T12S probably benign Het
Slco6c1 T A 1: 97,046,303 (GRCm39) Q277L probably benign Het
Spmap2 A T 10: 79,421,785 (GRCm39) Y144* probably null Het
Sptlc2 T A 12: 87,415,892 (GRCm39) H45L probably benign Het
Srsf4 A G 4: 131,627,641 (GRCm39) probably benign Het
Sspo A G 6: 48,454,719 (GRCm39) S2969G probably damaging Het
Steap1 C T 5: 5,786,664 (GRCm39) G258R probably damaging Het
Stk19 A T 17: 35,055,851 (GRCm39) M1K probably null Het
Stk-ps2 C A 1: 46,069,049 (GRCm39) noncoding transcript Het
Taf1c C T 8: 120,327,726 (GRCm39) R332H probably damaging Het
Thbs4 T A 13: 92,891,743 (GRCm39) T791S probably damaging Het
Tjap1 A G 17: 46,574,652 (GRCm39) L21P probably damaging Het
Tmem145 A G 7: 25,007,268 (GRCm39) Y148C probably damaging Het
Tmem267 T A 13: 120,070,810 (GRCm39) V155E probably benign Het
Tns1 T A 1: 73,956,076 (GRCm39) H549L possibly damaging Het
Tyro3 T G 2: 119,632,182 (GRCm39) I83S probably benign Het
Ubxn4 G A 1: 128,190,641 (GRCm39) E256K probably benign Het
Vmn1r53 A T 6: 90,200,413 (GRCm39) C304S probably benign Het
Vwf G A 6: 125,622,917 (GRCm39) M1761I probably benign Het
Zfp276 T C 8: 123,991,786 (GRCm39) Y445H probably damaging Het
Zfp407 A T 18: 84,578,536 (GRCm39) I859N 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
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
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'- AATTGGGTGCAAACCCAGGCCAAG -3'
(R):5'- TAGCCATGATGCTTCTCGTCCAGC -3'

Sequencing Primer
(F):5'- CCAGGCCAAGCAAGGTG -3'
(R):5'- CATGACTCTGGCTATCCATGAG -3'
Posted On 2013-04-11