Incidental Mutation 'R3818:Dse'
ID 274787
Institutional Source Beutler Lab
Gene Symbol Dse
Ensembl Gene ENSMUSG00000039497
Gene Name dermatan sulfate epimerase
Synonyms Sart2, B130024B19Rik, DS-epi1
MMRRC Submission 040772-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.205) question?
Stock # R3818 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 34027389-34083711 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 34029429 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 554 (I554V)
Ref Sequence ENSEMBL: ENSMUSP00000040074 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048010] [ENSMUST00000217051]
AlphaFold Q8BLI4
Predicted Effect probably benign
Transcript: ENSMUST00000048010
AA Change: I554V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000040074
Gene: ENSMUSG00000039497
AA Change: I554V

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 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.7%
  • 20x: 96.4%
Validation Efficiency 100% (34/34)
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310011J03Rik T C 10: 80,155,351 (GRCm39) D54G probably damaging Het
Adra2b G T 2: 127,205,755 (GRCm39) E86* probably null Het
Cachd1 A T 4: 100,848,062 (GRCm39) D1059V probably damaging Het
Cd177 A G 7: 24,453,817 (GRCm39) V358A probably benign Het
Col25a1 A G 3: 130,343,720 (GRCm39) K396R possibly damaging Het
Csmd1 C T 8: 16,052,522 (GRCm39) A2201T probably damaging Het
Cyp4a12b A T 4: 115,289,667 (GRCm39) D178V probably damaging Het
Cyp4a30b G T 4: 115,316,206 (GRCm39) A311S probably damaging Het
Gabrg3 G A 7: 57,031,412 (GRCm39) Q43* probably null Het
Gjb2 A G 14: 57,337,530 (GRCm39) V226A probably benign Het
Gpr21 C A 2: 37,408,324 (GRCm39) T290N probably damaging Het
Gsdme A C 6: 50,196,391 (GRCm39) S340A probably benign Het
Hivep2 T C 10: 14,019,685 (GRCm39) V2152A possibly damaging Het
Mamdc4 C T 2: 25,455,785 (GRCm39) S840N probably benign Het
Or5p59 A G 7: 107,702,705 (GRCm39) Y63C possibly damaging Het
Or8i2 G A 2: 86,852,054 (GRCm39) T278I probably benign Het
Pah A G 10: 87,357,866 (GRCm39) probably benign Het
Pikfyve T A 1: 65,284,917 (GRCm39) S794T probably damaging Het
Plekhn1 T C 4: 156,309,990 (GRCm39) H108R probably damaging Het
Pomgnt1 T A 4: 116,011,139 (GRCm39) probably null Het
Prkd1 A T 12: 50,466,667 (GRCm39) probably benign Het
Pwp1 C T 10: 85,723,993 (GRCm39) P498L possibly damaging Het
Rasa4 A G 5: 136,131,147 (GRCm39) T414A possibly damaging Het
Rbm26 A T 14: 105,378,706 (GRCm39) L594I probably damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Skint5 A G 4: 113,486,319 (GRCm39) probably benign Het
Sorcs3 A G 19: 48,592,343 (GRCm39) N336S probably benign Het
Sspo A T 6: 48,458,037 (GRCm39) E3269V possibly damaging Het
Tlr4 A G 4: 66,759,553 (GRCm39) E782G probably benign Het
Tnfrsf11a C T 1: 105,737,085 (GRCm39) T64I probably damaging Het
Top2b T G 14: 16,409,189 (GRCm38) I777M probably damaging Het
Ttl T C 2: 128,934,914 (GRCm39) V358A probably damaging Het
Wdhd1 A G 14: 47,481,258 (GRCm39) probably null Het
Wdr37 A G 13: 8,903,632 (GRCm39) probably benign Het
Zfp939 T C 7: 39,122,792 (GRCm39) noncoding transcript 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
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
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'- TATAACCGGTATCATCCATCCAGTAC -3'
(R):5'- AAGAGTTGCTTTTCTCCCTGG -3'

Sequencing Primer
(F):5'- CCATCCAGTACATTTTATAGAGACCG -3'
(R):5'- TGGGAGGGTCAGGTCAC -3'
Posted On 2015-04-02