Incidental Mutation 'IGL03092:Dsel'
ID 418405
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: 0.101) question?
Stock # IGL03092
Quality Score
Status
Chromosome 1
Chromosomal Location 111786432-111792648 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 111787793 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 914 (L914P)
Ref Sequence ENSEMBL: ENSMUSP00000043570 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035462]
AlphaFold Q0VBN2
Predicted Effect probably damaging
Transcript: ENSMUST00000035462
AA Change: L914P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000043570
Gene: ENSMUSG00000038702
AA Change: L914P

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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik A G 3: 124,200,119 (GRCm39) L491P probably damaging Het
Abcc6 T A 7: 45,635,894 (GRCm39) D1051V probably damaging Het
Actmap T C 7: 26,900,561 (GRCm39) M180T probably damaging Het
Aqr T A 2: 113,989,424 (GRCm39) E133V probably benign Het
Bag6 A G 17: 35,364,603 (GRCm39) N911D probably damaging Het
Cdcp3 G T 7: 130,803,527 (GRCm39) probably null Het
Ces4a C T 8: 105,874,836 (GRCm39) probably benign Het
Clec3b A T 9: 122,980,100 (GRCm39) probably benign Het
Cnot1 T C 8: 96,496,243 (GRCm39) probably benign Het
Ctsg T A 14: 56,337,417 (GRCm39) *262L probably null Het
Cyp17a1 T A 19: 46,661,050 (GRCm39) H78L possibly damaging Het
Dcaf13 C A 15: 38,991,371 (GRCm39) probably benign Het
Dcun1d1 G T 3: 35,975,141 (GRCm39) Q52K possibly damaging Het
Ddb1 C T 19: 10,590,309 (GRCm39) R279W probably damaging Het
Dock1 A G 7: 134,366,945 (GRCm39) probably benign Het
Fbxo31 A G 8: 122,286,757 (GRCm39) F174L probably benign Het
Gm9116 A G 3: 93,817,513 (GRCm39) noncoding transcript Het
Gspt1 C T 16: 11,056,763 (GRCm39) V211I probably benign Het
Hmgb1 A T 5: 148,987,508 (GRCm39) S14T probably benign Het
Igsf8 A G 1: 172,140,096 (GRCm39) probably benign Het
Klf13 A G 7: 63,541,417 (GRCm39) F237L probably damaging Het
Mon2 A T 10: 122,854,005 (GRCm39) I962N probably damaging Het
Nfx1 A G 4: 41,024,851 (GRCm39) D1108G probably damaging Het
Nr2e1 T C 10: 42,447,478 (GRCm39) Y178C probably damaging Het
Or4d10c C A 19: 12,065,230 (GRCm39) E309* probably null Het
Or52d1 A T 7: 103,755,854 (GRCm39) I123F probably damaging Het
Pde3b A T 7: 114,122,583 (GRCm39) H717L probably damaging Het
Polr1b T C 2: 128,965,049 (GRCm39) Y712H probably damaging Het
Pramel16 C A 4: 143,676,767 (GRCm39) K112N probably damaging Het
Rnf157 T A 11: 116,238,795 (GRCm39) probably null Het
Ros1 T C 10: 51,974,902 (GRCm39) E1561G probably damaging Het
Serpina6 A G 12: 103,620,154 (GRCm39) probably null Het
St18 A G 1: 6,839,118 (GRCm39) probably benign Het
Ugp2 A G 11: 21,279,722 (GRCm39) probably benign Het
Vmn1r70 T C 7: 10,368,186 (GRCm39) S225P probably benign Het
Zfp641 T C 15: 98,188,397 (GRCm39) D161G 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
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 2016-08-02