Incidental Mutation 'IGL02237:Degs1'
ID285942
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Degs1
Ensembl Gene ENSMUSG00000038633
Gene Namedelta(4)-desaturase, sphingolipid 1
SynonymsMdes, Des1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.203) question?
Stock #IGL02237
Quality Score
Status
Chromosome1
Chromosomal Location182275772-182282804 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 182279688 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Arginine at position 2 (K2R)
Ref Sequence ENSEMBL: ENSMUSP00000119473 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035295] [ENSMUST00000133052]
Predicted Effect probably damaging
Transcript: ENSMUST00000035295
AA Change: K38R

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000048519
Gene: ENSMUSG00000038633
AA Change: K38R

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: K2R

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000119473
Gene: ENSMUSG00000038633
AA Change: K2R

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
Coding Region Coverage
Validation Efficiency
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd16b T A 2: 181,493,557 V84E probably benign Het
Adam39 A T 8: 40,825,445 E291V probably benign Het
Ak5 T A 3: 152,499,343 D372V probably benign Het
Brpf1 C T 6: 113,310,375 P188L probably damaging Het
Cacna2d3 C T 14: 29,346,997 V258I probably benign Het
Cd14 A G 18: 36,725,859 F181S probably damaging Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Cts6 A T 13: 61,197,499 D261E probably benign Het
Daam1 A G 12: 71,982,721 T897A probably benign Het
Ddx25 T A 9: 35,542,069 probably benign Het
Ddx55 A G 5: 124,567,895 E461G probably damaging Het
Drc7 C T 8: 95,072,879 L561F probably damaging Het
Eif4enif1 A T 11: 3,227,876 K423* probably null Het
Epha7 A G 4: 28,949,325 probably null Het
Erich5 A C 15: 34,471,336 E237A probably benign Het
Ficd A G 5: 113,738,312 T183A probably damaging Het
Foxb2 T C 19: 16,873,544 M33V unknown Het
Gja8 T G 3: 96,919,933 S138R probably benign Het
Gm28042 T G 2: 120,039,899 L743V possibly damaging Het
Gtf3c2 A T 5: 31,159,053 probably benign Het
Itga11 T C 9: 62,755,775 probably null Het
Kazn A T 4: 142,147,099 D315E probably benign Het
Kbtbd2 A T 6: 56,779,048 S568T possibly damaging Het
Man1c1 A C 4: 134,584,298 probably null Het
Myh9 A G 15: 77,786,654 S463P probably benign Het
Nlrp4a G T 7: 26,449,278 K103N possibly damaging Het
Oog2 T A 4: 144,196,446 F427Y possibly damaging Het
Pcmtd1 T C 1: 7,163,377 probably null Het
Pcnt C A 10: 76,352,984 D2861Y probably damaging Het
Pdzd7 C T 19: 45,040,258 A149T probably damaging Het
Pebp4 A T 14: 70,059,656 T215S possibly damaging Het
Pgm2 T C 4: 99,963,510 probably benign Het
Plekhh2 T A 17: 84,575,785 D760E probably benign Het
Pomt1 T C 2: 32,245,677 I351T probably benign Het
Ptpn21 C T 12: 98,705,092 probably null Het
Rsad2 T G 12: 26,456,187 Y78S probably damaging Het
Rsbn1l A T 5: 20,919,606 N399K probably benign Het
Sec31a A G 5: 100,362,055 V1191A probably damaging Het
Sema6c C T 3: 95,170,119 P414L probably damaging Het
Serpinb5 T C 1: 106,880,326 S69P probably benign Het
Slc25a13 C T 6: 6,042,646 R586H probably damaging Het
Spink5 T A 18: 44,012,867 M776K probably benign Het
Srcap A G 7: 127,534,692 probably benign Het
Stt3a G A 9: 36,749,637 Q293* probably null Het
Syne4 T A 7: 30,316,563 probably null Het
Tomm40l C T 1: 171,220,894 V97M possibly damaging Het
Trpc4 C T 3: 54,222,362 S183F probably damaging Het
Ttn C T 2: 76,886,134 probably benign Het
Ufl1 A C 4: 25,269,082 S170A probably benign Het
Vmn2r66 G A 7: 84,994,700 T834I probably benign Het
Vmn2r75 A G 7: 86,165,578 S236P possibly damaging Het
Zfp345 A T 2: 150,474,885 probably benign Het
Zfp955b T C 17: 33,301,919 S121P probably 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
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
R7164:Degs1 UTSW 1 182279125 missense probably damaging 0.99
Posted On2015-04-16