Incidental Mutation 'R5814:Degs1l'
ID 447664
Institutional Source Beutler Lab
Gene Symbol Degs1l
Ensembl Gene ENSMUSG00000038768
Gene Name delta 4-desaturase, sphingolipid 1 like
Synonyms 9130409I23Rik
MMRRC Submission 043396-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.175) question?
Stock # R5814 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 180878802-180888232 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 180882663 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 142 (V142I)
Ref Sequence ENSEMBL: ENSMUSP00000042889 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036819]
AlphaFold Q3TS87
Predicted Effect probably damaging
Transcript: ENSMUST00000036819
AA Change: V142I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000042889
Gene: ENSMUSG00000038768
AA Change: V142I

DomainStartEndE-ValueType
Lipid_DES 5 43 6.12e-15 SMART
Pfam:FA_desaturase 64 295 7.1e-23 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195319
Meta Mutation Damage Score 0.1310 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.8%
Validation Efficiency 91% (52/57)
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402N03Rik T C 7: 130,740,811 (GRCm39) D135G probably benign Het
Arrdc3 G T 13: 81,038,698 (GRCm39) R220L possibly damaging Het
Bace1 A G 9: 45,771,562 (GRCm39) D458G probably damaging Het
Cacna1s A G 1: 136,034,880 (GRCm39) Y1360C probably benign Het
Ccnb1-ps T C 7: 41,756,522 (GRCm39) noncoding transcript Het
Cd209b T C 8: 3,973,348 (GRCm39) E112G probably damaging Het
Cit T A 5: 116,117,478 (GRCm39) L1176Q probably damaging Het
Clcn3 T C 8: 61,387,607 (GRCm39) Y214C probably damaging Het
Clvs2 G T 10: 33,404,503 (GRCm39) Q238K probably benign Het
Creb3l3 C T 10: 80,921,496 (GRCm39) V350M probably benign Het
Crot A C 5: 9,023,996 (GRCm39) D373E probably damaging Het
Cyp4a12b T A 4: 115,289,694 (GRCm39) I187N probably damaging Het
Dnhd1 C A 7: 105,369,102 (GRCm39) A4291D possibly damaging Het
Dnmt3b A T 2: 153,514,417 (GRCm39) E403D probably benign Het
Ect2l A T 10: 18,075,757 (GRCm39) I43K probably damaging Het
Efcab3 T A 11: 104,626,940 (GRCm39) probably benign Het
Ep400 C A 5: 110,843,444 (GRCm39) probably null Het
Erp27 A T 6: 136,888,564 (GRCm39) V138E possibly damaging Het
Gbp4 G A 5: 105,267,785 (GRCm39) A487V probably benign Het
Gm10142 C A 10: 77,551,957 (GRCm39) T106N probably damaging Het
Gxylt2 C A 6: 100,710,196 (GRCm39) H112Q probably damaging Het
Hexim2 G A 11: 103,029,209 (GRCm39) R87Q probably damaging Het
Hgf A G 5: 16,807,305 (GRCm39) N399S probably benign Het
Ikbke T A 1: 131,199,516 (GRCm39) I302F probably damaging Het
Itgb4 C T 11: 115,874,983 (GRCm39) R447W probably benign Het
Kdm1b A G 13: 47,216,622 (GRCm39) probably null Het
Krtap19-9a T C 16: 88,721,002 (GRCm39) noncoding transcript Het
Lin9 T A 1: 180,496,763 (GRCm39) L351I probably benign Het
Mmp10 G A 9: 7,503,621 (GRCm39) A164T possibly damaging Het
Myrip G A 9: 120,253,734 (GRCm39) G269D probably benign Het
Or1e16 AGCGGTCGTAGGC AGC 11: 73,286,480 (GRCm39) probably null Het
Paxbp1 G T 16: 90,827,384 (GRCm39) R420S probably damaging Het
Pcbp2 T A 15: 102,391,597 (GRCm39) S38R probably damaging Het
Pcf11 A G 7: 92,306,922 (GRCm39) V1082A probably benign Het
Pkhd1 T C 1: 20,269,629 (GRCm39) E3305G probably damaging Het
Pla2g4c T A 7: 13,074,543 (GRCm39) W250R probably damaging Het
Prune2 A G 19: 16,993,725 (GRCm39) probably null Het
Rpsa A G 9: 119,957,551 (GRCm39) probably benign Het
Sema3e A G 5: 14,275,680 (GRCm39) I262V probably benign Het
Setd2 T A 9: 110,396,826 (GRCm39) L1663* probably null Het
Sh3d19 G A 3: 86,033,911 (GRCm39) V755I probably benign Het
Spag9 T A 11: 93,973,654 (GRCm39) V14E possibly damaging Het
Srsf11 C T 3: 157,728,981 (GRCm39) probably benign Het
Sspo A T 6: 48,428,818 (GRCm39) Q411L probably damaging Het
Sycp1 A C 3: 102,803,213 (GRCm39) S532R probably benign Het
Taf6l C A 19: 8,752,210 (GRCm39) A493S probably benign Het
Tsnaxip1 A G 8: 106,570,603 (GRCm39) D574G probably benign Het
Ttll10 T A 4: 156,132,084 (GRCm39) K117N possibly damaging Het
Uqcc5 A G 14: 30,846,477 (GRCm39) probably null Het
Utp4 T A 8: 107,638,907 (GRCm39) I405K probably damaging Het
Vmn2r45 T A 7: 8,474,475 (GRCm39) Y851F probably benign Het
Vps33a T C 5: 123,703,119 (GRCm39) D168G probably damaging Het
Other mutations in Degs1l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02552:Degs1l APN 1 180,882,463 (GRCm39) missense possibly damaging 0.82
IGL03345:Degs1l APN 1 180,882,937 (GRCm39) missense probably benign 0.43
R0014:Degs1l UTSW 1 180,882,696 (GRCm39) missense possibly damaging 0.95
R0014:Degs1l UTSW 1 180,882,696 (GRCm39) missense possibly damaging 0.95
R0522:Degs1l UTSW 1 180,887,312 (GRCm39) missense probably damaging 0.98
R0737:Degs1l UTSW 1 180,882,944 (GRCm39) missense probably benign 0.15
R1710:Degs1l UTSW 1 180,878,884 (GRCm39) start codon destroyed probably null 0.98
R1809:Degs1l UTSW 1 180,887,252 (GRCm39) missense probably damaging 0.98
R2029:Degs1l UTSW 1 180,882,496 (GRCm39) missense probably benign 0.04
R7445:Degs1l UTSW 1 180,882,577 (GRCm39) missense possibly damaging 0.92
R8139:Degs1l UTSW 1 180,882,358 (GRCm39) missense probably damaging 0.98
R8550:Degs1l UTSW 1 180,887,324 (GRCm39) missense probably damaging 1.00
R9563:Degs1l UTSW 1 180,882,810 (GRCm39) missense possibly damaging 0.88
R9564:Degs1l UTSW 1 180,882,810 (GRCm39) missense possibly damaging 0.88
Z1177:Degs1l UTSW 1 180,887,336 (GRCm39) missense probably benign 0.01
Z1177:Degs1l UTSW 1 180,882,982 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACTTGGAGTGGAAATGGGTC -3'
(R):5'- GTAGACTAAGGATTTAACCCCAAAGAC -3'

Sequencing Primer
(F):5'- AAATGGGTCATATTTTGTGCCTATG -3'
(R):5'- GTCAAAGGTGATCTGAACAAC -3'
Posted On 2016-12-15