Incidental Mutation 'R5895:Dse'
ID 457458
Institutional Source Beutler Lab
Gene Symbol Dse
Ensembl Gene ENSMUSG00000039497
Gene Name dermatan sulfate epimerase
Synonyms Sart2, B130024B19Rik, DS-epi1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.205) question?
Stock # R5895 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 34027389-34083711 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 34028601 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 830 (I830F)
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: I830F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000040074
Gene: ENSMUSG00000039497
AA Change: I830F

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 0.4113 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 97.3%
  • 20x: 91.7%
Validation Efficiency 98% (64/65)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a G A 5: 8,752,216 (GRCm39) G426S probably damaging Het
Casp4 A T 9: 5,328,573 (GRCm39) probably benign Het
Ccdc40 T A 11: 119,144,229 (GRCm39) F988Y probably damaging Het
Ccdc9b T C 2: 118,590,098 (GRCm39) T249A probably benign Het
Chd5 T A 4: 152,464,389 (GRCm39) V1516E probably benign Het
Chrnd T A 1: 87,123,389 (GRCm39) probably null Het
Col5a3 C A 9: 20,683,738 (GRCm39) G1506V unknown Het
Csgalnact2 A T 6: 118,106,215 (GRCm39) C34* probably null Het
Ddx23 T C 15: 98,549,832 (GRCm39) K195E probably benign Het
Dhps T G 8: 85,800,880 (GRCm39) S240A probably benign Het
Dnah5 T A 15: 28,234,599 (GRCm39) probably null Het
Dock10 T C 1: 80,514,676 (GRCm39) T1414A probably benign Het
Dock4 A G 12: 40,805,812 (GRCm39) D928G probably damaging Het
Dolpp1 T C 2: 30,285,658 (GRCm39) probably benign Het
Elmod1 C T 9: 53,843,091 (GRCm39) R29Q probably damaging Het
Ephx4 T A 5: 107,577,518 (GRCm39) probably null Het
Evi5 A T 5: 107,968,302 (GRCm39) M215K probably damaging Het
Fbxl4 T C 4: 22,390,678 (GRCm39) L287P probably damaging Het
Gbp9 G A 5: 105,230,724 (GRCm39) S400L probably damaging Het
Gm6291 T C 18: 6,371,365 (GRCm39) noncoding transcript Het
Gmcl1 A T 6: 86,688,596 (GRCm39) D301E probably benign Het
Gna14 C T 19: 16,580,692 (GRCm39) R177C possibly damaging Het
Golph3 C T 15: 12,339,756 (GRCm39) R90C probably damaging Het
Gpr142 T A 11: 114,689,785 (GRCm39) C12* probably null Het
Hat1 T A 2: 71,239,357 (GRCm39) N43K possibly damaging Het
Hivep1 A T 13: 42,310,694 (GRCm39) E978V possibly damaging Het
Hormad1 G A 3: 95,467,044 (GRCm39) probably null Het
Kalrn C T 16: 33,795,805 (GRCm39) probably benign Het
Mars1 T C 10: 127,132,418 (GRCm39) T860A probably benign Het
Mdn1 A T 4: 32,695,400 (GRCm39) L1146F probably damaging Het
Met A G 6: 17,531,581 (GRCm39) T620A probably benign Het
Mppe1 T C 18: 67,358,834 (GRCm39) E378G probably benign Het
Mybpc3 T A 2: 90,955,010 (GRCm39) V481D probably damaging Het
Myh14 A T 7: 44,256,133 (GRCm39) L1924Q probably damaging Het
Mylip G T 13: 45,562,178 (GRCm39) E327* probably null Het
Naip1 C T 13: 100,559,636 (GRCm39) G1123R probably benign Het
Naip6 A G 13: 100,452,500 (GRCm39) V187A possibly damaging Het
Ncam1 T A 9: 49,418,343 (GRCm39) T986S probably benign Het
Or13p4 T C 4: 118,547,314 (GRCm39) I112V probably damaging Het
Or4x13 T C 2: 90,231,800 (GRCm39) I265T probably benign Het
Phactr2 C T 10: 13,121,261 (GRCm39) G480S probably damaging Het
Por A G 5: 135,744,838 (GRCm39) I34V probably benign Het
Ppp2r5b C T 19: 6,284,764 (GRCm39) R33H probably damaging Het
Prkdc C A 16: 15,570,693 (GRCm39) Y2325* probably null Het
Prx A G 7: 27,214,709 (GRCm39) E73G probably damaging Het
Rbms2 C A 10: 127,981,556 (GRCm39) A126S possibly damaging Het
Rhoq C T 17: 87,302,117 (GRCm39) A111V probably damaging Het
Rpl14 T A 9: 120,403,240 (GRCm39) probably benign Het
Serbp1 A G 6: 67,249,870 (GRCm39) *75W probably null Het
Sptbn1 C A 11: 30,073,978 (GRCm39) V1351F probably damaging Het
Supt16 A G 14: 52,401,979 (GRCm39) V897A probably benign Het
Tfdp1 T A 8: 13,407,038 (GRCm39) probably null Het
Ttn T A 2: 76,780,487 (GRCm39) Y1088F probably damaging Het
Vmn2r105 G T 17: 20,448,929 (GRCm39) Q83K probably benign Het
Wdr76 A T 2: 121,359,323 (GRCm39) S221C probably damaging Het
Zfhx2 G T 14: 55,303,348 (GRCm39) F1545L probably benign Het
Zfp318 A G 17: 46,709,959 (GRCm39) I561V probably damaging 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
R4159: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
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'- GTTGTGACTTGTCACCATCCG -3'
(R):5'- AGCAGATCCTATCTCGAGTCC -3'

Sequencing Primer
(F):5'- GTCACCATCCGCACCTG -3'
(R):5'- CTAGCTTTAGAAAGACTGCCGAGC -3'
Posted On 2017-02-15