Incidental Mutation 'IGL02504:Dse'
ID296221
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? Possibly essential (E-score: 0.534) question?
Stock #IGL02504
Quality Score
Status
Chromosome10
Chromosomal Location34151393-34207715 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 34152800 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Lysine at position 765 (Q765K)
Ref Sequence ENSEMBL: ENSMUSP00000040074 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048010] [ENSMUST00000217051]
Predicted Effect probably benign
Transcript: ENSMUST00000048010
AA Change: Q765K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000040074
Gene: ENSMUSG00000039497
AA Change: Q765K

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
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ago4 T A 4: 126,517,439 N142I probably benign Het
Asf1b A G 8: 83,955,829 M1V probably null Het
Astn1 T C 1: 158,502,408 C278R probably damaging Het
Ccdc162 A T 10: 41,552,388 L692Q probably damaging Het
Cd207 T A 6: 83,677,806 probably benign Het
Chd5 T A 4: 152,363,322 N548K probably damaging Het
Col7a1 G A 9: 108,980,675 G2659D unknown Het
Cpa6 A T 1: 10,488,919 Y75N probably benign Het
Cspg4 G T 9: 56,885,772 V264L probably benign Het
Cyp3a25 T A 5: 145,993,331 I155L probably benign Het
Dock6 A G 9: 21,846,655 I51T probably benign Het
Fam219b A T 9: 57,538,068 M87L probably benign Het
Fat3 G A 9: 15,959,798 R3766C probably damaging Het
Fcnb A C 2: 28,076,594 M309R probably damaging Het
Fnbp4 C A 2: 90,768,543 N670K probably damaging Het
Fsip2 T A 2: 82,978,855 N1839K possibly damaging Het
G6pc2 A G 2: 69,226,595 H195R probably damaging Het
Gm14179 A T 11: 99,743,177 Het
Grm5 A G 7: 88,130,772 N1172S probably benign Het
Hsd17b14 A G 7: 45,556,375 T64A possibly damaging Het
Hspb7 G T 4: 141,421,820 E12D probably benign Het
Kdm2a T C 19: 4,356,771 N155D possibly damaging Het
Klhl24 A T 16: 20,115,943 R389* probably null Het
Kmt2b A G 7: 30,586,543 probably benign Het
Krt4 T A 15: 101,919,292 I469F unknown Het
Mto1 A T 9: 78,460,927 D451V probably damaging Het
Muc5b A T 7: 141,846,440 D477V unknown Het
Pcsk5 A G 19: 17,477,872 probably null Het
Ppil4 T A 10: 7,820,984 Y420* probably null Het
Ppp2r5d A T 17: 46,700,093 D27E probably benign Het
Prkd2 T C 7: 16,857,832 L596P probably damaging Het
Prr30 T C 14: 101,198,620 I169V probably benign Het
Rtl9 A T X: 143,102,291 T900S probably benign Het
Sash1 A G 10: 8,729,912 S905P probably benign Het
Scn2a G A 2: 65,683,884 G304D probably benign Het
Scp2d1 T C 2: 144,823,957 L72P probably damaging Het
Sept2 T A 1: 93,500,481 H166Q probably benign Het
Sgcb A G 5: 73,644,375 I49T probably damaging Het
Smyd4 T A 11: 75,390,681 W327R probably damaging Het
Sptbn1 C T 11: 30,142,293 E491K probably damaging Het
Tcaf1 A T 6: 42,679,279 H254Q probably benign Het
Tll1 A C 8: 64,070,237 D480E possibly damaging Het
Tlr3 G A 8: 45,397,907 T127M probably damaging Het
Trio A T 15: 27,847,390 C929* probably null Het
Ttn C T 2: 76,798,150 W12809* probably null Het
Ugt2b35 T A 5: 87,001,541 M217K possibly damaging Het
Unc13b T C 4: 43,263,031 V4261A probably damaging Het
Uqcrc2 T C 7: 120,643,031 I82T probably benign Het
Usp21 A G 1: 171,285,023 I266T probably benign Het
Veph1 A T 3: 66,172,130 H321Q probably damaging Het
Vmn1r29 A C 6: 58,307,670 Y125S probably benign Het
Other mutations in Dse
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00943:Dse APN 10 34162805 missense probably damaging 1.00
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
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 On2015-04-16