Incidental Mutation 'R7164:Degs1'
ID 557776
Institutional Source Beutler Lab
Gene Symbol Degs1
Ensembl Gene ENSMUSG00000038633
Gene Name delta(4)-desaturase, sphingolipid 1
Synonyms Mdes, Des1
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.148) question?
Stock # R7164 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 182275772-182282804 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 182279125 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 226 (S226P)
Ref Sequence ENSEMBL: ENSMUSP00000048519 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035295] [ENSMUST00000133052]
AlphaFold O09005
Predicted Effect probably damaging
Transcript: ENSMUST00000035295
AA Change: S226P

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000048519
Gene: ENSMUSG00000038633
AA Change: S226P

DomainStartEndE-ValueType
Lipid_DES 5 43 4.36e-20 SMART
Pfam:FA_desaturase 65 293 1.1e-26 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000133052
AA Change: S190P

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000119473
Gene: ENSMUSG00000038633
AA Change: S190P

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 0.4822 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 100% (59/59)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610037L13Rik C A 4: 107,894,890 D155E not run Het
4932415D10Rik G A 10: 82,286,229 T3649I probably damaging Het
Actn2 G A 13: 12,278,961 H558Y probably damaging Het
Akap9 G C 5: 4,060,364 E3022D probably damaging Het
Anapc2 C T 2: 25,284,999 R710C probably damaging Het
Bcl6 G A 16: 23,966,226 R675* probably null Het
Carmil3 A G 14: 55,501,282 E844G probably damaging Het
Cdk17 T G 10: 93,232,481 S367A probably benign Het
Cfap206 T A 4: 34,719,656 M253L probably benign Het
Chd3 T G 11: 69,362,306 K228Q probably damaging Het
Cit T A 5: 115,985,787 I1503N possibly damaging Het
Csn1s1 A G 5: 87,674,228 N119S possibly damaging Het
Espl1 T C 15: 102,313,203 W976R probably damaging Het
Fbxl4 C T 4: 22,386,218 P275L probably benign Het
Flnb A G 14: 7,915,944 probably null Het
Gm996 T A 2: 25,578,567 H444L possibly damaging Het
Gnptab T A 10: 88,434,070 Y878* probably null Het
Gpr89 A T 3: 96,871,398 M453K probably benign Het
Igsf5 A T 16: 96,372,848 Q26L possibly damaging Het
Inpp5e T A 2: 26,407,983 D202V possibly damaging Het
Itga3 C T 11: 95,052,479 V931M possibly damaging Het
Kcnab3 T C 11: 69,331,358 probably null Het
Klk4 T C 7: 43,881,698 I17T possibly damaging Het
Lrrc73 T C 17: 46,256,243 L206P probably damaging Het
Manba A T 3: 135,542,388 N346I probably damaging Het
Map4k4 T C 1: 39,973,972 Y76H possibly damaging Het
Map4k5 T C 12: 69,830,436 T312A probably benign Het
Masp2 A G 4: 148,610,115 probably null Het
Mast1 T C 8: 84,935,304 D63G possibly damaging Het
Mtf2 T A 5: 108,093,369 S254T possibly damaging Het
Myo16 A T 8: 10,569,585 T1379S unknown Het
Myo5a A G 9: 75,180,153 E1097G probably benign Het
Nat1 T C 8: 67,491,677 V238A possibly damaging Het
Nhlrc2 A G 19: 56,592,499 D493G probably damaging Het
Olfr1165-ps T C 2: 88,101,832 K52E probably damaging Het
Olfr1331 C T 4: 118,869,725 P315S probably benign Het
Olfr1462 A T 19: 13,190,906 M80L probably benign Het
Olfr291 A G 7: 84,857,043 I227V possibly damaging Het
Olfr50 T C 2: 36,793,697 S154P probably benign Het
Olfr919 A G 9: 38,698,219 I49T possibly damaging Het
Pcsk5 C T 19: 17,451,985 C1543Y probably damaging Het
Pde4d A G 13: 109,032,688 D88G probably benign Het
Pld5 A T 1: 176,213,621 M1K probably null Het
Prmt6 A G 3: 110,250,364 M203T probably benign Het
Prr14l A T 5: 32,829,166 V995D probably damaging Het
Psg18 T C 7: 18,350,937 E199G possibly damaging Het
Pth1r A G 9: 110,723,747 I439T possibly damaging Het
Ptprc T A 1: 138,117,862 I87F probably benign Het
Slc44a1 T C 4: 53,528,711 S154P probably benign Het
Slco1c1 T A 6: 141,542,129 Y192* probably null Het
Spag16 A G 1: 70,724,866 H615R possibly damaging Het
Tas2r114 G A 6: 131,689,765 A100V possibly damaging Het
U2af1l4 T C 7: 30,565,119 S103P probably benign Het
Usp10 T C 8: 119,942,108 S383P probably damaging Het
Vmn2r113 A G 17: 22,948,163 R505G probably benign Het
Vmn2r75 A C 7: 86,165,384 D300E probably damaging Het
Zfp318 T A 17: 46,397,306 probably null Het
Zfp318 T C 17: 46,405,939 V999A probably damaging Het
Zfp324 A T 7: 12,968,883 H58L probably damaging Het
Zfp707 A G 15: 75,975,118 E339G possibly damaging Het
Other mutations in Degs1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00977:Degs1 APN 1 182279209 missense probably benign 0.34
IGL01766:Degs1 APN 1 182279095 missense probably damaging 1.00
IGL02237:Degs1 APN 1 182279688 missense probably damaging 0.97
IGL02578:Degs1 APN 1 182279027 nonsense probably null
IGL03200:Degs1 APN 1 182279691 start codon destroyed probably null 1.00
R0087:Degs1 UTSW 1 182279310 missense probably benign 0.00
R0126:Degs1 UTSW 1 182279692 start codon destroyed probably null 0.85
R0299:Degs1 UTSW 1 182279271 missense probably damaging 0.99
R4157:Degs1 UTSW 1 182282627 missense possibly damaging 0.83
R4260:Degs1 UTSW 1 182279241 missense probably benign
R4520:Degs1 UTSW 1 182276808 missense possibly damaging 0.95
R4606:Degs1 UTSW 1 182276823 missense probably damaging 0.99
R4888:Degs1 UTSW 1 182276805 missense probably damaging 0.98
R5366:Degs1 UTSW 1 182279362 missense probably benign 0.08
R6574:Degs1 UTSW 1 182279073 missense probably damaging 1.00
R7023:Degs1 UTSW 1 182279065 missense probably damaging 0.99
R7633:Degs1 UTSW 1 182279698 missense probably damaging 1.00
R7894:Degs1 UTSW 1 182276851 missense probably damaging 0.97
R7894:Degs1 UTSW 1 182276852 missense probably benign 0.00
R7905:Degs1 UTSW 1 182279036 missense possibly damaging 0.72
R8233:Degs1 UTSW 1 182279595 missense probably benign 0.36
R8296:Degs1 UTSW 1 182282676 missense probably benign 0.43
R8974:Degs1 UTSW 1 182279713 missense probably benign 0.16
Predicted Primers PCR Primer
(F):5'- CCAAGACTACCTGATGGCATC -3'
(R):5'- GTCTGGGTTATCCTTCAGCC -3'

Sequencing Primer
(F):5'- TGGCATCATCATCAGGAACAAAAAC -3'
(R):5'- AGCCTCTCTTTTATGCTTTTAGAC -3'
Posted On 2019-06-26