Incidental Mutation 'R1147:Dsel'
ID 102469
Institutional Source Beutler Lab
Gene Symbol Dsel
Ensembl Gene ENSMUSG00000038702
Gene Name dermatan sulfate epimerase-like
Synonyms DS-epi2, 9330132E09Rik
MMRRC Submission 039220-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.101) question?
Stock # R1147 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 111786432-111792648 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 111789939 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 199 (T199A)
Ref Sequence ENSEMBL: ENSMUSP00000043570 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035462]
AlphaFold Q0VBN2
Predicted Effect possibly damaging
Transcript: ENSMUST00000035462
AA Change: T199A

PolyPhen 2 Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000043570
Gene: ENSMUSG00000038702
AA Change: T199A

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186365
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189370
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189731
Meta Mutation Damage Score 0.0616 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 97.7%
  • 10x: 89.5%
  • 20x: 66.1%
Validation Efficiency
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam20 T C 8: 41,248,655 (GRCm39) I255T possibly damaging Het
Aknad1 T A 3: 108,659,857 (GRCm39) N290K possibly damaging Het
Ano8 C A 8: 71,934,661 (GRCm39) V447F probably damaging Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Ash1l A T 3: 88,892,194 (GRCm39) M1358L possibly damaging Het
Ccdc110 A G 8: 46,397,121 (GRCm39) K837E possibly damaging Het
Cd19 T A 7: 126,010,217 (GRCm39) D384V possibly damaging Het
Ces1f C T 8: 93,984,909 (GRCm39) V473I possibly damaging Het
Chd6 C T 2: 160,832,191 (GRCm39) E994K probably damaging Het
Col5a2 G T 1: 45,415,931 (GRCm39) N1405K probably damaging Het
Dnah7b A G 1: 46,379,426 (GRCm39) D3720G probably damaging Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Flacc1 A T 1: 58,708,622 (GRCm39) Y215N probably damaging Het
Hrg G T 16: 22,779,754 (GRCm39) C344F probably damaging Het
Htt T C 5: 35,008,596 (GRCm39) Y1462H probably damaging Het
Kcnh2 T A 5: 24,529,385 (GRCm39) I784F probably damaging Het
Kifc3 T C 8: 95,864,546 (GRCm39) T55A probably damaging Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Oog3 A G 4: 143,884,982 (GRCm39) F318S possibly damaging Het
Or2a20 A T 6: 43,194,146 (GRCm39) T100S probably damaging Het
Or52w1 G A 7: 105,018,484 (GRCm39) R308Q probably benign Het
Pde5a C T 3: 122,587,962 (GRCm39) T376M probably damaging Het
Pkhd1l1 A G 15: 44,400,837 (GRCm39) I2204V probably null Het
Ppp1r13l A G 7: 19,109,772 (GRCm39) D731G probably damaging Het
Ptk6 C T 2: 180,837,590 (GRCm39) G443D probably benign Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Ptprs T C 17: 56,730,504 (GRCm39) D749G probably damaging Het
Ralgapa1 A T 12: 55,749,265 (GRCm39) D1212E probably damaging Het
Rsad1 T C 11: 94,434,966 (GRCm39) Y290C probably damaging Het
Sfi1 CCTCTC CCTCTCTC 11: 3,127,419 (GRCm39) probably benign Het
Slc6a11 T A 6: 114,221,831 (GRCm39) I507N possibly damaging Het
Sp140l1 C G 1: 85,077,226 (GRCm39) K113N probably benign Het
Sybu A T 15: 44,609,651 (GRCm39) F78I probably damaging Het
Tox A T 4: 6,823,055 (GRCm39) N87K possibly damaging Het
Trrap G A 5: 144,741,576 (GRCm39) G1308R probably damaging Het
Trub2 A G 2: 29,677,644 (GRCm39) probably benign Het
Vmn2r114 A T 17: 23,530,037 (GRCm39) H123Q probably benign Het
Vmn2r15 T A 5: 109,441,072 (GRCm39) Y262F probably damaging Het
Vmn2r33 C T 7: 7,557,144 (GRCm39) E519K probably benign Het
Zfp106 A T 2: 120,351,017 (GRCm39) C1545S probably damaging 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
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 1 111,787,724 (GRCm39) missense probably benign
R1729:Dsel UTSW 1 111,787,187 (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 1 111,787,187 (GRCm39) missense probably benign
R1739:Dsel UTSW 1 111,787,724 (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
R9196:Dsel UTSW 1 111,787,863 (GRCm39) missense probably benign 0.01
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
Posted On 2014-01-15