Incidental Mutation 'IGL02237:Degs1'
ID 285942
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Degs1
Ensembl Gene ENSMUSG00000038633
Gene Name delta 4-desaturase, sphingolipid 1
Synonyms Des1, Mdes
Accession Numbers
Essential gene? Probably non essential (E-score: 0.205) question?
Stock # IGL02237
Quality Score
Status
Chromosome 1
Chromosomal Location 182103529-182110366 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 182107253 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold O09005
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: 181,135,350 (GRCm39) V84E probably benign Het
Adam39 A T 8: 41,278,482 (GRCm39) E291V probably benign Het
Ak5 T A 3: 152,204,980 (GRCm39) D372V probably benign Het
Brpf1 C T 6: 113,287,336 (GRCm39) P188L probably damaging Het
Cacna2d3 C T 14: 29,068,954 (GRCm39) V258I probably benign Het
Cd14 A G 18: 36,858,912 (GRCm39) F181S probably damaging Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Cts6 A T 13: 61,345,313 (GRCm39) D261E probably benign Het
Daam1 A G 12: 72,029,495 (GRCm39) T897A probably benign Het
Ddx25 T A 9: 35,453,365 (GRCm39) probably benign Het
Ddx55 A G 5: 124,705,958 (GRCm39) E461G probably damaging Het
Drc7 C T 8: 95,799,507 (GRCm39) L561F probably damaging Het
Eif4enif1 A T 11: 3,177,876 (GRCm39) K423* probably null Het
Epha7 A G 4: 28,949,325 (GRCm39) probably null Het
Erich5 A C 15: 34,471,482 (GRCm39) E237A probably benign Het
Ficd A G 5: 113,876,373 (GRCm39) T183A probably damaging Het
Foxb2 T C 19: 16,850,908 (GRCm39) M33V unknown Het
Gja8 T G 3: 96,827,249 (GRCm39) S138R probably benign Het
Gm28042 T G 2: 119,870,380 (GRCm39) L743V possibly damaging Het
Gtf3c2 A T 5: 31,316,397 (GRCm39) probably benign Het
Itga11 T C 9: 62,663,057 (GRCm39) probably null Het
Kazn A T 4: 141,874,410 (GRCm39) D315E probably benign Het
Kbtbd2 A T 6: 56,756,033 (GRCm39) S568T possibly damaging Het
Man1c1 A C 4: 134,311,609 (GRCm39) probably null Het
Myh9 A G 15: 77,670,854 (GRCm39) S463P probably benign Het
Nlrp4a G T 7: 26,148,703 (GRCm39) K103N possibly damaging Het
Oog2 T A 4: 143,923,016 (GRCm39) F427Y possibly damaging Het
Pcmtd1 T C 1: 7,233,601 (GRCm39) probably null Het
Pcnt C A 10: 76,188,818 (GRCm39) D2861Y probably damaging Het
Pdzd7 C T 19: 45,028,697 (GRCm39) A149T probably damaging Het
Pebp4 A T 14: 70,297,105 (GRCm39) T215S possibly damaging Het
Pgm1 T C 4: 99,820,707 (GRCm39) probably benign Het
Plekhh2 T A 17: 84,883,213 (GRCm39) D760E probably benign Het
Pomt1 T C 2: 32,135,689 (GRCm39) I351T probably benign Het
Ptpn21 C T 12: 98,671,351 (GRCm39) probably null Het
Rsad2 T G 12: 26,506,186 (GRCm39) Y78S probably damaging Het
Rsbn1l A T 5: 21,124,604 (GRCm39) N399K probably benign Het
Sec31a A G 5: 100,509,914 (GRCm39) V1191A probably damaging Het
Sema6c C T 3: 95,077,430 (GRCm39) P414L probably damaging Het
Serpinb5 T C 1: 106,808,056 (GRCm39) S69P probably benign Het
Slc25a13 C T 6: 6,042,646 (GRCm39) R586H probably damaging Het
Spink5 T A 18: 44,145,934 (GRCm39) M776K probably benign Het
Srcap A G 7: 127,133,864 (GRCm39) probably benign Het
Stt3a G A 9: 36,660,933 (GRCm39) Q293* probably null Het
Syne4 T A 7: 30,015,988 (GRCm39) probably null Het
Tomm40l C T 1: 171,048,463 (GRCm39) V97M possibly damaging Het
Trpc4 C T 3: 54,129,783 (GRCm39) S183F probably damaging Het
Ttn C T 2: 76,716,478 (GRCm39) probably benign Het
Ufl1 A C 4: 25,269,082 (GRCm39) S170A probably benign Het
Vmn2r66 G A 7: 84,643,908 (GRCm39) T834I probably benign Het
Vmn2r75 A G 7: 85,814,786 (GRCm39) S236P possibly damaging Het
Zfp345 A T 2: 150,316,805 (GRCm39) probably benign Het
Zfp955b T C 17: 33,520,893 (GRCm39) S121P 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
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
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
Posted On 2015-04-16