Incidental Mutation 'R1300:Dse'
ID 158310
Institutional Source Beutler Lab
Gene Symbol Dse
Ensembl Gene ENSMUSG00000039497
Gene Name dermatan sulfate epimerase
Synonyms Sart2, B130024B19Rik, DS-epi1
MMRRC Submission 039366-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.205) question?
Stock # R1300 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 34027389-34083711 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 34028411 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 893 (A893V)
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: A893V

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000040074
Gene: ENSMUSG00000039497
AA Change: A893V

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
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.4%
Validation Efficiency
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A G 1: 71,283,967 (GRCm39) I2535T probably damaging Het
Adam34l A T 8: 44,079,881 (GRCm39) Y114* probably null Het
Ank3 A G 10: 69,840,495 (GRCm39) I952V probably benign Het
Ankar A C 1: 72,682,323 (GRCm39) V1414G probably benign Het
Arl2 A G 19: 6,191,103 (GRCm39) M10T probably benign Het
Arpp21 A G 9: 111,972,442 (GRCm39) I352T probably damaging Het
Cacna1e T A 1: 154,274,419 (GRCm39) H2162L probably benign Het
Cep170b A C 12: 112,703,691 (GRCm39) M622L probably benign Het
Cped1 T C 6: 22,119,552 (GRCm39) V337A probably benign Het
Cpn2 T A 16: 30,078,481 (GRCm39) T407S probably benign Het
Cpne4 T C 9: 104,870,333 (GRCm39) W263R probably damaging Het
Crtc1 A G 8: 70,840,189 (GRCm39) probably null Het
Cspg4b T C 13: 113,502,694 (GRCm39) F133S probably damaging Het
Dennd5a A T 7: 109,518,614 (GRCm39) I485N probably benign Het
Dnah6 T C 6: 73,101,692 (GRCm39) Q1892R probably benign Het
Dsg1a T G 18: 20,465,206 (GRCm39) S466A probably benign Het
Dstyk T C 1: 132,377,651 (GRCm39) V419A probably benign Het
Eif2ak4 T C 2: 118,294,464 (GRCm39) V1125A possibly damaging Het
Ep400 C A 5: 110,821,426 (GRCm39) G2576C probably damaging Het
Eps15l1 A T 8: 73,145,746 (GRCm39) D162E probably damaging Het
Fstl4 C A 11: 52,959,454 (GRCm39) T165N probably benign Het
Gm8674 T C 13: 50,055,758 (GRCm39) noncoding transcript Het
Gtsf2 T A 15: 103,352,780 (GRCm39) L39F possibly damaging Het
Hck A C 2: 152,976,067 (GRCm39) D202A possibly damaging Het
Il12b T A 11: 44,298,903 (GRCm39) probably null Het
Irf4 T C 13: 30,941,568 (GRCm39) L307P probably damaging Het
Keg1 G A 19: 12,696,368 (GRCm39) R184Q probably damaging Het
Kmt2c T C 5: 25,610,452 (GRCm39) D218G probably damaging Het
Map1b T C 13: 99,569,029 (GRCm39) K1231E unknown Het
Mapkbp1 T C 2: 119,844,136 (GRCm39) Y293H probably benign Het
Mfsd8 A T 3: 40,778,333 (GRCm39) D310E probably benign Het
Mmp9 A T 2: 164,790,876 (GRCm39) D88V probably damaging Het
Muc5ac G T 7: 141,370,666 (GRCm39) C2522F possibly damaging Het
Myo1e A T 9: 70,209,065 (GRCm39) I110F probably damaging Het
Neu1 A T 17: 35,153,314 (GRCm39) Y279F possibly damaging Het
Nhsl1 A G 10: 18,284,209 (GRCm39) H50R probably benign Het
Nlrp3 C T 11: 59,446,594 (GRCm39) S780F possibly damaging Het
Npc1l1 T G 11: 6,177,859 (GRCm39) D517A probably damaging Het
Or14c43 T C 7: 86,114,951 (GRCm39) F111L probably benign Het
Or1e32 T C 11: 73,705,072 (GRCm39) T279A probably benign Het
Or2z2 T C 11: 58,346,667 (GRCm39) Y36C probably damaging Het
Or52e3 G A 7: 102,869,324 (GRCm39) R133Q probably benign Het
P3h2 C A 16: 25,815,986 (GRCm39) E176* probably null Het
Parp10 C A 15: 76,126,190 (GRCm39) D333Y possibly damaging Het
Pcdhb12 C T 18: 37,570,450 (GRCm39) A532V possibly damaging Het
Pde2a A T 7: 101,159,611 (GRCm39) T818S possibly damaging Het
Phf11 A T 14: 59,488,563 (GRCm39) V78D probably damaging Het
Phip A T 9: 82,758,800 (GRCm39) L1450Q probably benign Het
Pinx1 A G 14: 64,156,859 (GRCm39) E262G probably benign Het
Ppargc1a T C 5: 51,706,014 (GRCm39) E19G probably damaging Het
Pum1 T C 4: 130,493,272 (GRCm39) I921T probably damaging Het
Rgs22 T A 15: 36,101,908 (GRCm39) H106L probably benign Het
Slc10a6 T C 5: 103,754,550 (GRCm39) D327G probably benign Het
Syt1 A T 10: 108,467,682 (GRCm39) V205D possibly damaging Het
Tep1 C T 14: 51,064,512 (GRCm39) probably null Het
Thnsl2 T A 6: 71,111,175 (GRCm39) Q231L probably damaging Het
Ttc4 T A 4: 106,524,763 (GRCm39) H304L probably damaging Het
Unc5c G A 3: 141,534,304 (GRCm39) V923M possibly damaging Het
Zfp777 T C 6: 48,002,704 (GRCm39) E506G probably benign 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
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
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'- GGGCAGCCAAAGCCATTCTTACAC -3'
(R):5'- GATGCGGTTCCTGATATTTTCGCAC -3'

Sequencing Primer
(F):5'- TGGCGTTAGCACTGAGAC -3'
(R):5'- GTTCCTGATATTTTCGCACAGATTG -3'
Posted On 2014-02-18