Incidental Mutation 'R9196:Dsel'
ID 697930
Institutional Source Beutler Lab
Gene Symbol Dsel
Ensembl Gene ENSMUSG00000038702
Gene Name dermatan sulfate epimerase-like
Synonyms DS-epi2, 9330132E09Rik
MMRRC Submission 068955-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.101) question?
Stock # R9196 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 111786432-111792648 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 111787863 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 891 (E891K)
Ref Sequence ENSEMBL: ENSMUSP00000043570 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035462]
AlphaFold Q0VBN2
Predicted Effect probably benign
Transcript: ENSMUST00000035462
AA Change: E891K

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000043570
Gene: ENSMUSG00000038702
AA Change: E891K

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
low complexity region 120 131 N/A INTRINSIC
low complexity region 568 577 N/A INTRINSIC
transmembrane domain 769 791 N/A INTRINSIC
transmembrane domain 798 817 N/A INTRINSIC
Pfam:Sulfotransfer_1 847 1201 2.1e-12 PFAM
Pfam:Sulfotransfer_3 848 1143 1.7e-11 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 92% (35/38)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced epimerase activity in the skin, lung, liver, spleen, kidney and brain and reduced iduronic acid content in the brain and kidney chondroitin sulfate/dermatan sulfate. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb8 T C 5: 24,605,644 (GRCm39) L176P probably benign Het
Abtb2 A T 2: 103,513,647 (GRCm39) H352L possibly damaging Het
Adgrf5 T C 17: 43,755,995 (GRCm39) V651A possibly damaging Het
Cc2d1b T A 4: 108,485,134 (GRCm39) L519Q probably damaging Het
Celsr1 G T 15: 85,917,286 (GRCm39) S229* probably null Het
Cenpn G A 8: 117,658,344 (GRCm39) D97N probably damaging Het
Cfap54 A G 10: 92,873,753 (GRCm39) C576R probably benign Het
Col8a1 A T 16: 57,447,730 (GRCm39) D593E unknown Het
Duox1 T C 2: 122,150,689 (GRCm39) Y255H probably benign Het
Fzd6 C A 15: 38,895,102 (GRCm39) L423M probably damaging Het
Fzd6 T G 15: 38,895,103 (GRCm39) L423R probably damaging Het
Galntl6 G T 8: 58,415,461 (GRCm39) L231I probably damaging Het
Grm5 T C 7: 87,723,518 (GRCm39) Y603H probably damaging Het
Hepacam A T 9: 37,279,052 (GRCm39) Q27L probably benign Het
Hibadh C T 6: 52,525,865 (GRCm39) V262I probably damaging Het
Hs3st1 T A 5: 39,771,962 (GRCm39) D227V probably damaging Het
Inpp1 A G 1: 52,833,778 (GRCm39) L106P probably damaging Het
Itprid1 A T 6: 55,952,613 (GRCm39) Q852L probably damaging Het
Jmy T A 13: 93,601,209 (GRCm39) D399V probably damaging Het
Krt23 A T 11: 99,371,855 (GRCm39) I332N probably benign Het
Lrrc23 T C 6: 124,755,189 (GRCm39) K116R possibly damaging Het
Myo10 T A 15: 25,805,716 (GRCm39) I1699N probably damaging Het
Ndst4 C T 3: 125,518,385 (GRCm39) S354L probably benign Het
Neto1 A T 18: 86,413,965 (GRCm39) probably benign Het
Nlrp9a T A 7: 26,258,158 (GRCm39) L592Q probably damaging Het
Nol10 A G 12: 17,455,316 (GRCm39) Q439R probably benign Het
Pcbp3 A G 10: 76,621,003 (GRCm39) S216P probably damaging Het
Pcdhb20 T A 18: 37,638,024 (GRCm39) H183Q probably benign Het
Reln A C 5: 22,357,471 (GRCm39) S198R probably damaging Het
Rtn4 T C 11: 29,658,471 (GRCm39) V875A probably benign Het
Skic2 T C 17: 35,068,877 (GRCm39) S41G probably benign Het
Sorbs2 A G 8: 46,258,864 (GRCm39) R1134G probably benign Het
Trpc4 A G 3: 54,129,872 (GRCm39) S213G probably damaging Het
Unc79 A G 12: 103,078,613 (GRCm39) I1593V probably benign Het
Uspl1 T C 5: 149,151,349 (GRCm39) S850P probably benign Het
Xrra1 T C 7: 99,563,699 (GRCm39) probably null Het
Ythdc2 T A 18: 44,988,464 (GRCm39) F717L probably damaging Het
Zfp606 T A 7: 12,227,935 (GRCm39) C685* probably null Het
Zfp764l1 T C 7: 126,990,761 (GRCm39) T409A probably benign Het
Other mutations in Dsel
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01114:Dsel APN 1 111,787,791 (GRCm39) nonsense probably null
IGL01562:Dsel APN 1 111,788,049 (GRCm39) missense probably benign
IGL01591:Dsel APN 1 111,787,425 (GRCm39) missense probably benign 0.08
IGL01822:Dsel APN 1 111,789,626 (GRCm39) missense probably damaging 1.00
IGL02289:Dsel APN 1 111,787,832 (GRCm39) nonsense probably null
IGL02557:Dsel APN 1 111,790,300 (GRCm39) missense probably damaging 1.00
IGL02805:Dsel APN 1 111,790,046 (GRCm39) missense probably damaging 1.00
IGL02864:Dsel APN 1 111,786,944 (GRCm39) missense probably damaging 1.00
IGL02887:Dsel APN 1 111,788,462 (GRCm39) missense possibly damaging 0.90
IGL03092:Dsel APN 1 111,787,793 (GRCm39) missense probably damaging 1.00
IGL03117:Dsel APN 1 111,786,908 (GRCm39) utr 3 prime probably benign
IGL03182:Dsel APN 1 111,787,868 (GRCm39) missense probably damaging 0.99
rudolph UTSW 1 111,787,547 (GRCm39) missense probably damaging 0.99
R0196:Dsel UTSW 1 111,789,333 (GRCm39) missense possibly damaging 0.86
R0465:Dsel UTSW 1 111,789,992 (GRCm39) missense probably benign 0.00
R0725:Dsel UTSW 1 111,787,682 (GRCm39) missense possibly damaging 0.79
R1024:Dsel UTSW 1 111,788,403 (GRCm39) missense probably damaging 1.00
R1147:Dsel UTSW 1 111,789,939 (GRCm39) missense possibly damaging 0.71
R1147:Dsel UTSW 1 111,789,939 (GRCm39) missense possibly damaging 0.71
R1654:Dsel UTSW 1 111,790,242 (GRCm39) missense probably damaging 1.00
R1728:Dsel UTSW 1 111,787,724 (GRCm39) missense probably benign
R1728:Dsel UTSW 1 111,787,187 (GRCm39) missense probably benign
R1729:Dsel UTSW 1 111,787,187 (GRCm39) missense probably benign
R1729:Dsel UTSW 1 111,787,724 (GRCm39) missense probably benign
R1730:Dsel UTSW 1 111,787,187 (GRCm39) missense probably benign
R1730:Dsel UTSW 1 111,787,724 (GRCm39) missense probably benign
R1735:Dsel UTSW 1 111,788,645 (GRCm39) missense probably damaging 1.00
R1739:Dsel UTSW 1 111,787,724 (GRCm39) missense probably benign
R1739:Dsel UTSW 1 111,787,187 (GRCm39) missense probably benign
R1762:Dsel UTSW 1 111,787,724 (GRCm39) missense probably benign
R1762:Dsel UTSW 1 111,787,187 (GRCm39) missense probably benign
R1783:Dsel UTSW 1 111,787,724 (GRCm39) missense probably benign
R1783:Dsel UTSW 1 111,787,187 (GRCm39) missense probably benign
R1785:Dsel UTSW 1 111,787,724 (GRCm39) missense probably benign
R1785:Dsel UTSW 1 111,787,187 (GRCm39) missense probably benign
R2049:Dsel UTSW 1 111,787,187 (GRCm39) missense probably benign
R2080:Dsel UTSW 1 111,787,692 (GRCm39) missense probably benign
R2141:Dsel UTSW 1 111,787,187 (GRCm39) missense probably benign
R2142:Dsel UTSW 1 111,787,187 (GRCm39) missense probably benign
R2150:Dsel UTSW 1 111,787,987 (GRCm39) missense probably benign 0.04
R4324:Dsel UTSW 1 111,789,123 (GRCm39) missense probably damaging 1.00
R5378:Dsel UTSW 1 111,790,551 (GRCm39) start gained probably benign
R5881:Dsel UTSW 1 111,787,168 (GRCm39) missense probably damaging 1.00
R5919:Dsel UTSW 1 111,787,983 (GRCm39) missense probably benign
R6820:Dsel UTSW 1 111,787,547 (GRCm39) missense probably damaging 0.99
R7003:Dsel UTSW 1 111,788,025 (GRCm39) missense probably benign
R7064:Dsel UTSW 1 111,790,577 (GRCm39) start gained probably benign
R7297:Dsel UTSW 1 111,789,506 (GRCm39) missense probably damaging 1.00
R7340:Dsel UTSW 1 111,789,303 (GRCm39) missense probably damaging 1.00
R7341:Dsel UTSW 1 111,789,303 (GRCm39) missense probably damaging 1.00
R7343:Dsel UTSW 1 111,789,303 (GRCm39) missense probably damaging 1.00
R7346:Dsel UTSW 1 111,788,798 (GRCm39) missense probably damaging 1.00
R7347:Dsel UTSW 1 111,789,303 (GRCm39) missense probably damaging 1.00
R7365:Dsel UTSW 1 111,789,303 (GRCm39) missense probably damaging 1.00
R7366:Dsel UTSW 1 111,789,303 (GRCm39) missense probably damaging 1.00
R7367:Dsel UTSW 1 111,789,303 (GRCm39) missense probably damaging 1.00
R7393:Dsel UTSW 1 111,789,303 (GRCm39) missense probably damaging 1.00
R7974:Dsel UTSW 1 111,788,229 (GRCm39) missense probably benign 0.00
R7978:Dsel UTSW 1 111,787,449 (GRCm39) nonsense probably null
R8220:Dsel UTSW 1 111,789,437 (GRCm39) missense probably damaging 1.00
R8434:Dsel UTSW 1 111,789,385 (GRCm39) missense probably damaging 1.00
R8688:Dsel UTSW 1 111,790,468 (GRCm39) nonsense probably null
R8819:Dsel UTSW 1 111,787,994 (GRCm39) missense probably benign 0.11
R8820:Dsel UTSW 1 111,787,994 (GRCm39) missense probably benign 0.11
R8923:Dsel UTSW 1 111,788,284 (GRCm39) missense possibly damaging 0.85
R9014:Dsel UTSW 1 111,788,509 (GRCm39) nonsense probably null
R9384:Dsel UTSW 1 111,787,863 (GRCm39) nonsense probably null
R9427:Dsel UTSW 1 111,787,425 (GRCm39) missense probably damaging 0.99
X0057:Dsel UTSW 1 111,786,940 (GRCm39) missense probably benign
Z1177:Dsel UTSW 1 111,789,446 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGATCTTGCAAAGACTCCCTTC -3'
(R):5'- GAGTACATGCACTCAGCCCATC -3'

Sequencing Primer
(F):5'- AAGACTCCCTTCTTTTTAATTTTCGC -3'
(R):5'- GCCCATCTGTGCAAAATGG -3'
Posted On 2022-02-07