Incidental Mutation 'R7839:Degs2'
ID 606179
Institutional Source Beutler Lab
Gene Symbol Degs2
Ensembl Gene ENSMUSG00000021263
Gene Name delta 4-desaturase, sphingolipid 2
Synonyms Des2, 2210008A03Rik
MMRRC Submission 045893-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7839 (G1)
Quality Score 217.468
Status Validated
Chromosome 12
Chromosomal Location 108653051-108668561 bp(-) (GRCm39)
Type of Mutation frame shift
DNA Base Change (assembly) CTTAGTGAAT to CT at 108658460 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000021691 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021689] [ENSMUST00000021691] [ENSMUST00000077735] [ENSMUST00000109854] [ENSMUST00000167978] [ENSMUST00000172409]
AlphaFold Q8R2F2
Predicted Effect probably benign
Transcript: ENSMUST00000021689
SMART Domains Protein: ENSMUSP00000021689
Gene: ENSMUSG00000021262

DomainStartEndE-ValueType
WH1 1 109 7.72e-53 SMART
low complexity region 172 204 N/A INTRINSIC
low complexity region 216 228 N/A INTRINSIC
low complexity region 240 251 N/A INTRINSIC
Pfam:VASP_tetra 375 411 2.6e-21 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000021691
SMART Domains Protein: ENSMUSP00000021691
Gene: ENSMUSG00000021263

DomainStartEndE-ValueType
Lipid_DES 5 43 5.57e-18 SMART
Pfam:FA_desaturase 65 294 3.3e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000077735
SMART Domains Protein: ENSMUSP00000076916
Gene: ENSMUSG00000021262

DomainStartEndE-ValueType
WH1 1 109 7.72e-53 SMART
low complexity region 172 204 N/A INTRINSIC
low complexity region 216 228 N/A INTRINSIC
low complexity region 240 251 N/A INTRINSIC
Pfam:VASP_tetra 353 392 2e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000109854
SMART Domains Protein: ENSMUSP00000105480
Gene: ENSMUSG00000021262

DomainStartEndE-ValueType
WH1 7 115 1.87e-51 SMART
low complexity region 178 210 N/A INTRINSIC
low complexity region 222 234 N/A INTRINSIC
low complexity region 246 257 N/A INTRINSIC
Pfam:VASP_tetra 359 398 7.1e-27 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000167978
SMART Domains Protein: ENSMUSP00000125891
Gene: ENSMUSG00000021263

DomainStartEndE-ValueType
Lipid_DES 5 43 5.57e-18 SMART
Pfam:FA_desaturase 64 275 1.1e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000172409
SMART Domains Protein: ENSMUSP00000133072
Gene: ENSMUSG00000021262

DomainStartEndE-ValueType
WH1 1 96 5.82e-39 SMART
low complexity region 159 191 N/A INTRINSIC
low complexity region 203 215 N/A INTRINSIC
low complexity region 227 238 N/A INTRINSIC
Pfam:VASP_tetra 361 400 1.6e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000222255
Predicted Effect probably benign
Transcript: ENSMUST00000223548
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (51/51)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a bifunctional enzyme that is involved in the biosynthesis of phytosphingolipids in human skin and in other phytosphingolipid-containing tissues. This enzyme can act as a sphingolipid delta(4)-desaturase, and also as a sphingolipid C4-hydroxylase. [provided by RefSeq, Oct 2008]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 A T 11: 110,025,085 (GRCm39) M986K probably benign Het
Adcyap1 A G 17: 93,511,413 (GRCm39) K129R probably benign Het
Anapc1 T C 2: 128,526,528 (GRCm39) D90G probably damaging Het
Ankrd17 G A 5: 90,411,213 (GRCm39) H1361Y probably damaging Het
Aqp4 T A 18: 15,532,737 (GRCm39) I119F possibly damaging Het
Bfsp1 T A 2: 143,673,770 (GRCm39) I313F possibly damaging Het
Cxcl9 A G 5: 92,475,869 (GRCm39) V5A probably benign Het
Cyfip1 G A 7: 55,536,483 (GRCm39) V304M probably damaging Het
Cyp2d22 A G 15: 82,256,772 (GRCm39) V334A probably damaging Het
Cyp2j12 A G 4: 95,987,893 (GRCm39) V499A possibly damaging Het
Cyth3 A G 5: 143,683,509 (GRCm39) E136G probably benign Het
Dnah7a A G 1: 53,606,334 (GRCm39) S1229P probably benign Het
Dop1a T A 9: 86,424,818 (GRCm39) C2087* probably null Het
Dop1b A T 16: 93,560,829 (GRCm39) H889L probably damaging Het
Elf1 A G 14: 79,773,855 (GRCm39) E22G probably benign Het
Gbgt1 T C 2: 28,393,182 (GRCm39) V90A probably damaging Het
Glis3 T C 19: 28,294,773 (GRCm39) D675G possibly damaging Het
Glt8d1 G T 14: 30,723,788 (GRCm39) probably benign Het
Gzf1 T A 2: 148,525,815 (GRCm39) Y95* probably null Het
Insig2 T C 1: 121,240,049 (GRCm39) I84V probably benign Het
Mapkapk2 A G 1: 131,025,256 (GRCm39) S3P unknown Het
Nell2 T C 15: 95,196,819 (GRCm39) N499S probably benign Het
Nlrp9b G A 7: 19,758,398 (GRCm39) R545H possibly damaging Het
Obox7 T A 7: 14,399,350 (GRCm39) I192N probably benign Het
Or10ad1 T C 15: 98,106,026 (GRCm39) I80V probably damaging Het
Or6c76b A T 10: 129,692,899 (GRCm39) I171F possibly damaging Het
Plec A T 15: 76,060,583 (GRCm39) V3118E probably damaging Het
Plk3 T C 4: 116,986,527 (GRCm39) T571A probably damaging Het
Ppa2 T C 3: 133,082,351 (GRCm39) probably null Het
Rabl6 A T 2: 25,482,829 (GRCm39) H183Q probably damaging Het
Rad51ap2 T A 12: 11,507,238 (GRCm39) S387T possibly damaging Het
Rbm33 A G 5: 28,573,397 (GRCm39) probably null Het
Robo4 T C 9: 37,322,055 (GRCm39) S724P probably damaging Het
Rtf2 T C 2: 172,308,253 (GRCm39) probably null Het
Sft2d1rt T C 11: 45,942,887 (GRCm39) T79A possibly damaging Het
Slc45a2 A T 15: 11,027,835 (GRCm39) Q468L probably benign Het
Slc6a15 A G 10: 103,240,660 (GRCm39) I428V probably benign Het
Sp140l2 C T 1: 85,224,736 (GRCm39) M266I probably benign Het
Taar7f C A 10: 23,925,967 (GRCm39) A187E possibly damaging Het
Tmt1a T C 15: 100,202,957 (GRCm39) V77A possibly damaging Het
Tob1 T A 11: 94,104,598 (GRCm39) Y45N probably damaging Het
Trappc10 A G 10: 78,024,646 (GRCm39) V1161A possibly damaging Het
Trbv13-2 T C 6: 41,098,521 (GRCm39) V32A probably benign Het
Trpm8 T A 1: 88,254,176 (GRCm39) L133Q possibly damaging Het
Ttn T C 2: 76,538,512 (GRCm39) T34729A probably benign Het
Uba6 G T 5: 86,270,271 (GRCm39) probably null Het
Unc13c T C 9: 73,840,596 (GRCm39) D85G possibly damaging Het
Vmn1r176 T C 7: 23,534,394 (GRCm39) D253G possibly damaging Het
Vmn2r34 T A 7: 7,687,173 (GRCm39) I175F possibly damaging Het
Vmn2r61 T A 7: 41,916,032 (GRCm39) I215N probably damaging Het
Vwa5a C A 9: 38,634,799 (GRCm39) S202R probably damaging Het
Zfp383 G A 7: 29,614,483 (GRCm39) C246Y probably damaging Het
Zfp40 T C 17: 23,395,963 (GRCm39) D208G probably damaging Het
Zfp992 C A 4: 146,550,875 (GRCm39) L199I probably benign Het
Other mutations in Degs2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02407:Degs2 APN 12 108,658,254 (GRCm39) missense probably damaging 1.00
IGL02755:Degs2 APN 12 108,658,842 (GRCm39) missense probably benign
largo UTSW 12 108,658,413 (GRCm39) missense probably damaging 1.00
R0039:Degs2 UTSW 12 108,656,848 (GRCm39) missense probably damaging 1.00
R0044:Degs2 UTSW 12 108,658,413 (GRCm39) missense probably damaging 1.00
R0044:Degs2 UTSW 12 108,658,413 (GRCm39) missense probably damaging 1.00
R0441:Degs2 UTSW 12 108,668,469 (GRCm39) missense probably damaging 0.97
R1642:Degs2 UTSW 12 108,658,451 (GRCm39) missense probably benign
R4183:Degs2 UTSW 12 108,658,358 (GRCm39) missense probably damaging 1.00
R4817:Degs2 UTSW 12 108,655,325 (GRCm39) nonsense probably null
R6268:Degs2 UTSW 12 108,658,839 (GRCm39) missense probably damaging 1.00
R6863:Degs2 UTSW 12 108,668,457 (GRCm39) missense probably damaging 1.00
R7626:Degs2 UTSW 12 108,658,332 (GRCm39) missense possibly damaging 0.68
R8356:Degs2 UTSW 12 108,658,223 (GRCm39) missense possibly damaging 0.89
Z1177:Degs2 UTSW 12 108,658,856 (GRCm39) missense probably benign 0.11
Predicted Primers PCR Primer
(F):5'- ATGCTCAGCCACAAAGTGAC -3'
(R):5'- CAAGTTGTGTCTCCCGAAACCG -3'

Sequencing Primer
(F):5'- TCAGCCACAAAGTGACCAGAGATAG -3'
(R):5'- AACCGCTGGTTTGCCATC -3'
Posted On 2019-12-20