Incidental Mutation 'R4159:Dse'
ID 315661
Institutional Source Beutler Lab
Gene Symbol Dse
Ensembl Gene ENSMUSG00000039497
Gene Name dermatan sulfate epimerase
Synonyms Sart2, B130024B19Rik, DS-epi1
MMRRC Submission 041002-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.205) question?
Stock # R4159 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 34027389-34083711 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 34029330 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 587 (F587L)
Ref Sequence ENSEMBL: ENSMUSP00000040074 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048010] [ENSMUST00000217051]
AlphaFold Q8BLI4
Predicted Effect probably damaging
Transcript: ENSMUST00000048010
AA Change: F587L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000040074
Gene: ENSMUSG00000039497
AA Change: F587L

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:DUF4962 24 353 5.2e-11 PFAM
low complexity region 558 568 N/A INTRINSIC
low complexity region 797 815 N/A INTRINSIC
transmembrane domain 901 923 N/A INTRINSIC
transmembrane domain 935 952 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216774
Predicted Effect probably benign
Transcript: ENSMUST00000217051
Meta Mutation Damage Score 0.5398 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 96% (45/47)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a tumor-rejection antigen. It is localized to the endoplasmic reticulum and functions to convert D-glucuronic acid to L-iduronic acid during the biosynthesis of dermatan sulfate. This antigen possesses tumor epitopes capable of inducing HLA-A24-restricted and tumor-specific cytotoxic T lymphocytes in cancer patients and may be useful for specific immunotherapy. Mutations in this gene cause inmusculocontractural Ehlers-Danlos syndrome. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 9, and a paralogous gene exists on chromosome 18. [provided by RefSeq, Apr 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased body weight and length with altered skin morphology and physiology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam4 T G 12: 81,466,806 (GRCm39) D605A probably damaging Het
Adcy1 A G 11: 7,013,889 (GRCm39) H97R probably damaging Het
Amdhd1 A G 10: 93,370,512 (GRCm39) Y109H probably damaging Het
Ankhd1 A G 18: 36,722,593 (GRCm39) N372S possibly damaging Het
Aoc2 G A 11: 101,216,122 (GRCm39) M68I probably damaging Het
Aspscr1 G A 11: 120,599,502 (GRCm39) A377T probably damaging Het
Bltp1 T A 3: 36,985,232 (GRCm39) M854K probably benign Het
Bltp3a A G 17: 28,103,061 (GRCm39) Y365C probably damaging Het
Cacnb1 G C 11: 97,903,100 (GRCm39) C154W probably damaging Het
Ccdc186 G A 19: 56,781,924 (GRCm39) R27* probably null Het
Clnk C A 5: 38,899,138 (GRCm39) probably benign Het
Fut8 T C 12: 77,440,523 (GRCm39) L170P probably damaging Het
G3bp2 T C 5: 92,212,260 (GRCm39) H217R probably benign Het
Gm19345 G A 7: 19,588,886 (GRCm39) probably benign Het
Hjurp G C 1: 88,204,937 (GRCm39) probably benign Het
Kcne4 A G 1: 78,795,819 (GRCm39) N156D probably benign Het
Met G T 6: 17,562,271 (GRCm39) probably null Het
Mfsd3 T C 15: 76,585,945 (GRCm39) L26P probably damaging Het
Oasl1 A G 5: 115,075,073 (GRCm39) K378E possibly damaging Het
Pde8a A G 7: 80,970,407 (GRCm39) I510V probably benign Het
Pds5a T C 5: 65,821,839 (GRCm39) T120A possibly damaging Het
Phf8-ps G A 17: 33,285,023 (GRCm39) T593I probably benign Het
Phkb T A 8: 86,748,162 (GRCm39) probably null Het
Ptprz1 A T 6: 23,001,683 (GRCm39) K1258* probably null Het
Senp7 C A 16: 55,973,832 (GRCm39) P351Q possibly damaging Het
Slc15a5 G T 6: 138,049,938 (GRCm39) T159K possibly damaging Het
Slc39a6 A G 18: 24,730,885 (GRCm39) V362A possibly damaging Het
Spef2 A T 15: 9,676,407 (GRCm39) D721E probably damaging Het
Sting1 A T 18: 35,872,272 (GRCm39) Y77N probably damaging Het
Tex11 C A X: 99,977,021 (GRCm39) A487S possibly damaging Het
Tnxb A G 17: 34,930,491 (GRCm39) T2059A probably damaging Het
Ttll8 T C 15: 88,801,444 (GRCm39) N415D probably benign Het
Ube2d2a A T 18: 35,903,577 (GRCm39) probably benign Het
Unc79 A G 12: 103,036,512 (GRCm39) probably benign Het
Ush2a G A 1: 188,460,907 (GRCm39) V2723M probably damaging Het
Vmn2r102 T A 17: 19,898,088 (GRCm39) C368S probably damaging Het
Vmn2r3 G A 3: 64,194,850 (GRCm39) Q23* probably null Het
Other mutations in Dse
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00943:Dse APN 10 34,038,801 (GRCm39) missense probably damaging 1.00
IGL01828:Dse APN 10 34,028,772 (GRCm39) missense probably damaging 0.97
IGL01835:Dse APN 10 34,036,213 (GRCm39) splice site probably benign
IGL01942:Dse APN 10 34,031,989 (GRCm39) missense probably benign 0.02
IGL02047:Dse APN 10 34,038,841 (GRCm39) nonsense probably null
IGL02208:Dse APN 10 34,028,433 (GRCm39) missense probably benign
IGL02306:Dse APN 10 34,036,130 (GRCm39) missense probably damaging 0.96
IGL02504:Dse APN 10 34,028,796 (GRCm39) missense probably benign
IGL02626:Dse APN 10 34,029,158 (GRCm39) missense probably damaging 0.99
IGL02812:Dse APN 10 34,059,712 (GRCm39) missense probably damaging 1.00
R0018:Dse UTSW 10 34,029,464 (GRCm39) missense probably benign 0.00
R0018:Dse UTSW 10 34,029,464 (GRCm39) missense probably benign 0.00
R0131:Dse UTSW 10 34,029,660 (GRCm39) missense probably damaging 1.00
R1300:Dse UTSW 10 34,028,411 (GRCm39) missense probably benign 0.00
R1502:Dse UTSW 10 34,029,214 (GRCm39) missense probably damaging 1.00
R1619:Dse UTSW 10 34,029,230 (GRCm39) missense probably damaging 1.00
R1736:Dse UTSW 10 34,029,145 (GRCm39) missense probably damaging 1.00
R1857:Dse UTSW 10 34,029,225 (GRCm39) missense probably benign 0.03
R1858:Dse UTSW 10 34,029,225 (GRCm39) missense probably benign 0.03
R1859:Dse UTSW 10 34,029,225 (GRCm39) missense probably benign 0.03
R1868:Dse UTSW 10 34,029,284 (GRCm39) missense possibly damaging 0.86
R1959:Dse UTSW 10 34,036,202 (GRCm39) missense probably damaging 1.00
R2082:Dse UTSW 10 34,031,936 (GRCm39) missense probably damaging 1.00
R2325:Dse UTSW 10 34,060,043 (GRCm39) missense probably benign 0.23
R2883:Dse UTSW 10 34,028,503 (GRCm39) missense probably benign 0.34
R3436:Dse UTSW 10 34,028,470 (GRCm39) missense probably benign
R3818:Dse UTSW 10 34,029,429 (GRCm39) missense probably benign
R4158:Dse UTSW 10 34,029,330 (GRCm39) missense probably damaging 1.00
R4160:Dse UTSW 10 34,029,330 (GRCm39) missense probably damaging 1.00
R4229:Dse UTSW 10 34,038,740 (GRCm39) missense probably damaging 1.00
R4414:Dse UTSW 10 34,028,632 (GRCm39) missense probably benign 0.04
R4667:Dse UTSW 10 34,029,008 (GRCm39) missense probably damaging 1.00
R4669:Dse UTSW 10 34,029,008 (GRCm39) missense probably damaging 1.00
R4777:Dse UTSW 10 34,029,584 (GRCm39) missense possibly damaging 0.56
R5154:Dse UTSW 10 34,029,657 (GRCm39) missense possibly damaging 0.83
R5573:Dse UTSW 10 34,028,678 (GRCm39) missense probably benign 0.02
R5804:Dse UTSW 10 34,029,375 (GRCm39) missense possibly damaging 0.84
R5844:Dse UTSW 10 34,029,038 (GRCm39) missense probably damaging 0.99
R5895:Dse UTSW 10 34,028,601 (GRCm39) missense probably damaging 1.00
R6290:Dse UTSW 10 34,028,336 (GRCm39) missense probably benign 0.00
R6600:Dse UTSW 10 34,028,537 (GRCm39) missense probably benign 0.06
R7088:Dse UTSW 10 34,029,885 (GRCm39) missense probably damaging 1.00
R7254:Dse UTSW 10 34,060,144 (GRCm39) start gained probably benign
R7491:Dse UTSW 10 34,028,561 (GRCm39) missense probably benign
R7989:Dse UTSW 10 34,029,454 (GRCm39) nonsense probably null
R8552:Dse UTSW 10 34,028,316 (GRCm39) missense possibly damaging 0.78
R8799:Dse UTSW 10 34,060,149 (GRCm39) start gained probably benign
R8862:Dse UTSW 10 34,029,934 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TTCACATAATTTGTCCCGTTGTAGG -3'
(R):5'- ATAAGCATGACCTGGCAGCC -3'

Sequencing Primer
(F):5'- GGATAACCCCGAGGATACATCACTG -3'
(R):5'- CCAGCTGTCAGGGGAGAGTG -3'
Posted On 2015-05-14