Incidental Mutation 'IGL00943:Dse'
ID28356
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dse
Ensembl Gene ENSMUSG00000039497
Gene Namedermatan sulfate epimerase
SynonymsSart2, DS-epi1, B130024B19Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.220) question?
Stock #IGL00943
Quality Score
Status
Chromosome10
Chromosomal Location34151393-34207715 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 34162805 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 201 (Y201H)
Ref Sequence ENSEMBL: ENSMUSP00000040074 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048010] [ENSMUST00000215547] [ENSMUST00000217051]
Predicted Effect probably damaging
Transcript: ENSMUST00000048010
AA Change: Y201H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000040074
Gene: ENSMUSG00000039497
AA Change: Y201H

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 probably benign
Transcript: ENSMUST00000215547
Predicted Effect probably damaging
Transcript: ENSMUST00000217051
AA Change: Y65H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Coding Region Coverage
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abl1 A G 2: 31,790,812 Y372C probably damaging Het
Carmil1 C T 13: 24,111,886 V382M possibly damaging Het
Chkb A T 15: 89,428,748 V138E probably damaging Het
Col7a1 G T 9: 108,977,697 G2434* probably null Het
Cpa3 A G 3: 20,228,815 V156A possibly damaging Het
Dicer1 A C 12: 104,696,772 S1517A possibly damaging Het
Dnajc14 T G 10: 128,816,806 S578A possibly damaging Het
Fam114a2 A T 11: 57,514,273 M1K probably null Het
Gm4847 A T 1: 166,642,353 S50R probably benign Het
Gpr156 A G 16: 37,988,576 Y220C probably damaging Het
Grxcr1 T C 5: 68,032,295 probably benign Het
Hspg2 T C 4: 137,562,201 V3824A probably benign Het
Ino80b A T 6: 83,124,148 L116Q probably damaging Het
Inpp5e A G 2: 26,400,151 probably benign Het
Lrrc8e T C 8: 4,235,658 C628R probably damaging Het
Maml1 A G 11: 50,258,714 V733A probably damaging Het
Mcm9 A G 10: 53,548,589 L635P probably damaging Het
Myh15 A T 16: 49,165,813 I1549F probably damaging Het
Myo1b T A 1: 51,784,487 I414F probably damaging Het
Nlrc3 T A 16: 3,965,117 I159F possibly damaging Het
Nvl A T 1: 181,101,634 D727E possibly damaging Het
Olfr365 T C 2: 37,202,171 V310A probably benign Het
Pgs1 A G 11: 118,005,540 I348V probably benign Het
Pkp1 A T 1: 135,878,184 V592E probably damaging Het
Setd7 T A 3: 51,533,038 D194V probably damaging Het
Slc26a7 T C 4: 14,506,477 D624G probably benign Het
Slc39a6 A G 18: 24,589,745 probably null Het
Sorbs1 T C 19: 40,295,040 probably benign Het
Tnfrsf19 A T 14: 61,024,182 M56K possibly damaging Het
Togaram2 C T 17: 71,725,004 R873C probably damaging Het
Tubgcp6 G A 15: 89,122,397 R141* probably null Het
Vill A G 9: 119,063,312 E337G probably damaging Het
Vmn1r17 A G 6: 57,361,200 L11S possibly damaging Het
Other mutations in Dse
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01828:Dse APN 10 34152776 missense probably damaging 0.97
IGL01835:Dse APN 10 34160217 splice site probably benign
IGL01942:Dse APN 10 34155993 missense probably benign 0.02
IGL02047:Dse APN 10 34162845 nonsense probably null
IGL02208:Dse APN 10 34152437 missense probably benign
IGL02306:Dse APN 10 34160134 missense probably damaging 0.96
IGL02504:Dse APN 10 34152800 missense probably benign
IGL02626:Dse APN 10 34153162 missense probably damaging 0.99
IGL02812:Dse APN 10 34183716 missense probably damaging 1.00
R0018:Dse UTSW 10 34153468 missense probably benign 0.00
R0018:Dse UTSW 10 34153468 missense probably benign 0.00
R0131:Dse UTSW 10 34153664 missense probably damaging 1.00
R1300:Dse UTSW 10 34152415 missense probably benign 0.00
R1502:Dse UTSW 10 34153218 missense probably damaging 1.00
R1619:Dse UTSW 10 34153234 missense probably damaging 1.00
R1736:Dse UTSW 10 34153149 missense probably damaging 1.00
R1857:Dse UTSW 10 34153229 missense probably benign 0.03
R1858:Dse UTSW 10 34153229 missense probably benign 0.03
R1859:Dse UTSW 10 34153229 missense probably benign 0.03
R1868:Dse UTSW 10 34153288 missense possibly damaging 0.86
R1959:Dse UTSW 10 34160206 missense probably damaging 1.00
R2082:Dse UTSW 10 34155940 missense probably damaging 1.00
R2325:Dse UTSW 10 34184047 missense probably benign 0.23
R2883:Dse UTSW 10 34152507 missense probably benign 0.34
R3436:Dse UTSW 10 34152474 missense probably benign
R3818:Dse UTSW 10 34153433 missense probably benign
R4158:Dse UTSW 10 34153334 missense probably damaging 1.00
R4159:Dse UTSW 10 34153334 missense probably damaging 1.00
R4160:Dse UTSW 10 34153334 missense probably damaging 1.00
R4229:Dse UTSW 10 34162744 missense probably damaging 1.00
R4414:Dse UTSW 10 34152636 missense probably benign 0.04
R4667:Dse UTSW 10 34153012 missense probably damaging 1.00
R4669:Dse UTSW 10 34153012 missense probably damaging 1.00
R4777:Dse UTSW 10 34153588 missense possibly damaging 0.56
R5154:Dse UTSW 10 34153661 missense possibly damaging 0.83
R5573:Dse UTSW 10 34152682 missense probably benign 0.02
R5804:Dse UTSW 10 34153379 missense possibly damaging 0.84
R5844:Dse UTSW 10 34153042 missense probably damaging 0.99
R5895:Dse UTSW 10 34152605 missense probably damaging 1.00
R6290:Dse UTSW 10 34152340 missense probably benign 0.00
R6600:Dse UTSW 10 34152541 missense probably benign 0.06
R7088:Dse UTSW 10 34153889 missense probably damaging 1.00
R7254:Dse UTSW 10 34184148 start gained probably benign
Posted On2013-04-17