Incidental Mutation 'R8233:Degs1'
ID 637206
Institutional Source Beutler Lab
Gene Symbol Degs1
Ensembl Gene ENSMUSG00000038633
Gene Name delta 4-desaturase, sphingolipid 1
Synonyms Des1, Mdes
MMRRC Submission 067665-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.205) question?
Stock # R8233 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 182103529-182110366 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 182107160 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 69 (V69A)
Ref Sequence ENSEMBL: ENSMUSP00000048519 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035295] [ENSMUST00000133052]
AlphaFold O09005
Predicted Effect probably benign
Transcript: ENSMUST00000035295
AA Change: V69A

PolyPhen 2 Score 0.363 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000048519
Gene: ENSMUSG00000038633
AA Change: V69A

DomainStartEndE-ValueType
Lipid_DES 5 43 4.36e-20 SMART
Pfam:FA_desaturase 65 293 1.1e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000133052
AA Change: V33A

PolyPhen 2 Score 0.363 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000119473
Gene: ENSMUSG00000038633
AA Change: V33A

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
  • 1x: 99.9%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.8%
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503L19Rik A T 18: 70,602,687 (GRCm39) V42E probably benign Het
Abca12 T C 1: 71,390,916 (GRCm39) E153G probably benign Het
Adamts20 A C 15: 94,189,533 (GRCm39) I1440S probably benign Het
Aspm T A 1: 139,385,042 (GRCm39) S229T probably benign Het
Atp2b2 A T 6: 113,742,680 (GRCm39) probably null Het
Cd101 G T 3: 100,900,989 (GRCm39) H1032N unknown Het
Col6a2 A G 10: 76,444,540 (GRCm39) probably null Het
Crot A T 5: 9,026,027 (GRCm39) I320K possibly damaging Het
D5Ertd579e A T 5: 36,772,588 (GRCm39) D602E probably damaging Het
Dgkz A G 2: 91,769,994 (GRCm39) S557P probably damaging Het
Fat1 T A 8: 45,405,055 (GRCm39) L602Q Het
Gli2 A T 1: 118,772,167 (GRCm39) Y513N probably damaging Het
H2-Q10 A G 17: 35,781,983 (GRCm39) T202A probably benign Het
Hnrnpa3 A G 2: 75,492,860 (GRCm39) N195D probably benign Het
Ifna1 C T 4: 88,768,628 (GRCm39) T102I possibly damaging Het
Igfbp3 T A 11: 7,160,152 (GRCm39) H167L probably benign Het
Igfn1 T C 1: 135,895,782 (GRCm39) T1595A probably benign Het
Krt14 A G 11: 100,094,178 (GRCm39) V472A probably damaging Het
Lrrc74b T A 16: 17,376,089 (GRCm39) H187L probably benign Het
Magoh T G 4: 107,738,132 (GRCm39) V44G possibly damaging Het
Mbnl1 A T 3: 60,532,551 (GRCm39) I274L probably benign Het
Or13a27 T G 7: 139,925,411 (GRCm39) M164L probably benign Het
Or4c108 C T 2: 88,804,082 (GRCm39) R51H probably benign Het
Pdcd1 A G 1: 93,967,142 (GRCm39) V252A probably damaging Het
Peg10 C CTCA 6: 4,756,453 (GRCm39) probably benign Het
Plcxd3 A G 15: 4,546,317 (GRCm39) D107G possibly damaging Het
Polr2m T A 9: 71,390,866 (GRCm39) D112V probably benign Het
Ptprn A T 1: 75,229,796 (GRCm39) M701K probably damaging Het
Rxrb A G 17: 34,255,879 (GRCm39) D421G possibly damaging Het
Slfn4 A G 11: 83,078,355 (GRCm39) E381G probably damaging Het
Son AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG 16: 91,457,222 (GRCm39) probably benign Het
Srgap1 A G 10: 121,661,341 (GRCm39) I530T probably damaging Het
Stmn4 A G 14: 66,595,341 (GRCm39) H122R probably damaging Het
Sycp2 T C 2: 177,998,427 (GRCm39) E1031G probably damaging Het
Tle1 T C 4: 72,043,181 (GRCm39) T553A probably benign Het
Tnik T A 3: 28,609,086 (GRCm39) W217R unknown Het
Tyrp1 T C 4: 80,769,190 (GRCm39) V161A unknown Het
Usp29 T A 7: 6,965,406 (GRCm39) F416L probably benign Het
Usp45 T C 4: 21,781,736 (GRCm39) V34A probably benign Het
Vmn1r119 A G 7: 20,745,932 (GRCm39) V150A 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
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
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'- TACCGGTGGTGATCCATGTG -3'
(R):5'- AATATCTCATAAAGTCTGTCAGGGG -3'

Sequencing Primer
(F):5'- TGATCCATGTGGTATCTCTTAAAGG -3'
(R):5'- TCTGTCAGGGGGAGAATTATAAC -3'
Posted On 2020-07-13