Incidental Mutation 'IGL02805:Dsel'
ID 360369
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dsel
Ensembl Gene ENSMUSG00000038702
Gene Name dermatan sulfate epimerase-like
Synonyms DS-epi2, 9330132E09Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.095) question?
Stock # IGL02805
Quality Score
Status
Chromosome 1
Chromosomal Location 111786432-111792648 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 111790046 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 163 (V163A)
Ref Sequence ENSEMBL: ENSMUSP00000043570 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035462]
AlphaFold Q0VBN2
Predicted Effect probably damaging
Transcript: ENSMUST00000035462
AA Change: V163A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000043570
Gene: ENSMUSG00000038702
AA Change: V163A

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
Coding Region Coverage
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca T C 11: 84,113,959 (GRCm39) probably benign Het
Ankdd1b A G 13: 96,580,810 (GRCm39) S163P probably benign Het
Ap5z1 G A 5: 142,456,038 (GRCm39) probably benign Het
Asb14 A G 14: 26,623,144 (GRCm39) N172S possibly damaging Het
Avil G A 10: 126,843,486 (GRCm39) V139I possibly damaging Het
C130073F10Rik A T 4: 101,748,171 (GRCm39) M1K probably null Het
Ccdc33 T A 9: 58,005,874 (GRCm39) I37F probably benign Het
Ccdc9 T C 7: 16,009,199 (GRCm39) M550V probably benign Het
Cfap119 T C 7: 127,185,566 (GRCm39) D121G possibly damaging Het
Cgn T A 3: 94,681,687 (GRCm39) L469F probably damaging Het
Dnaaf3 C T 7: 4,526,704 (GRCm39) G458R possibly damaging Het
Dscaml1 T A 9: 45,359,195 (GRCm39) N151K probably damaging Het
Epg5 A G 18: 78,073,406 (GRCm39) probably benign Het
Fanca A T 8: 124,016,233 (GRCm39) I670N probably damaging Het
Fsip2 T C 2: 82,823,839 (GRCm39) V6524A probably benign Het
Gm10985 T C 3: 53,752,514 (GRCm39) probably null Het
Gm1818 C T 12: 48,602,518 (GRCm39) noncoding transcript Het
Hars2 C T 18: 36,920,630 (GRCm39) R158* probably null Het
Htr5b A G 1: 121,455,617 (GRCm39) V101A probably damaging Het
Ipp A G 4: 116,386,885 (GRCm39) I356V possibly damaging Het
Itga8 T A 2: 12,194,291 (GRCm39) N703I possibly damaging Het
Or8b3 T A 9: 38,315,132 (GRCm39) probably benign Het
Ppp6r3 T C 19: 3,542,428 (GRCm39) N406D probably benign Het
Rbbp6 G A 7: 122,600,411 (GRCm39) probably benign Het
Rgs7 T C 1: 174,977,262 (GRCm39) Y114C probably damaging Het
Ripor1 A G 8: 106,344,203 (GRCm39) T446A probably damaging Het
Rnf213 A G 11: 119,325,892 (GRCm39) D1562G probably damaging Het
Scaf11 A T 15: 96,318,063 (GRCm39) D500E possibly damaging Het
Spock1 A G 13: 58,055,391 (GRCm39) I4T possibly damaging Het
Srebf2 C A 15: 82,054,045 (GRCm39) N35K probably benign Het
Srgap3 G T 6: 112,704,224 (GRCm39) H922N probably damaging Het
Stk32c A C 7: 138,701,762 (GRCm39) H112Q probably damaging Het
Styxl2 T C 1: 165,926,630 (GRCm39) E994G probably damaging Het
Thumpd3 A G 6: 113,043,758 (GRCm39) D391G probably damaging Het
Vmn2r38 T A 7: 9,078,546 (GRCm39) H612L probably damaging Het
Vsig10l T G 7: 43,114,666 (GRCm39) I289S probably damaging Het
Wwox G A 8: 115,438,753 (GRCm39) G273E probably damaging Het
Zscan4d T G 7: 10,898,897 (GRCm39) 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
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 1 111,787,724 (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
Posted On 2015-12-18