Incidental Mutation 'IGL00309:Arsb'
ID 4264
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Arsb
Ensembl Gene ENSMUSG00000042082
Gene Name arylsulfatase B
Synonyms As-1r, As1-s, As-1s, 1110007C02Rik, Asr-1, Ast-1, As1-r, As1-t, As1, As-1t, As-1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.250) question?
Stock # IGL00309
Quality Score
Status
Chromosome 13
Chromosomal Location 93908187-94079524 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 93926608 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 126 (D126G)
Ref Sequence ENSEMBL: ENSMUSP00000088964 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091403]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000091403
AA Change: D126G

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000088964
Gene: ENSMUSG00000042082
AA Change: D126G

DomainStartEndE-ValueType
signal peptide 1 39 N/A INTRINSIC
Pfam:Sulfatase 46 364 1.7e-78 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176635
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220652
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Arylsulfatase B encoded by this gene belongs to the sulfatase family. The arylsulfatase B homodimer hydrolyzes sulfate groups of N-Acetyl-D-galactosamine, chondriotin sulfate, and dermatan sulfate. The protein is targeted to the lysozyme. Mucopolysaccharidosis type VI is an autosomal recessive lysosomal storage disorder resulting from a deficiency of arylsulfatase B. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Dec 2016]
PHENOTYPE: Homozygous mutation of this gene results in development of shortened limbs and snout and a broadened head after 4 weeks of age. Mutant animals have elevated concentrations of glucosaminoglycans in the urine and irregular cartilage structure. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933430I17Rik T C 4: 62,450,903 (GRCm39) probably benign Het
Abca9 T A 11: 110,051,342 (GRCm39) D118V probably benign Het
Adgrb2 T A 4: 129,912,598 (GRCm39) I1241N probably damaging Het
BB014433 G T 8: 15,092,510 (GRCm39) N114K probably benign Het
Ccne2 T A 4: 11,199,322 (GRCm39) V241E probably benign Het
Ccnjl A T 11: 43,474,023 (GRCm39) K199N probably benign Het
Cyp2c55 A G 19: 39,000,190 (GRCm39) T130A probably benign Het
Cyp2c70 A T 19: 40,145,270 (GRCm39) N395K probably benign Het
Dst T C 1: 34,199,733 (GRCm39) V67A probably damaging Het
Dysf G A 6: 84,085,081 (GRCm39) R806H probably damaging Het
Extl3 G A 14: 65,314,438 (GRCm39) P248L probably benign Het
Fcgbp A G 7: 27,784,555 (GRCm39) D205G probably damaging Het
Gga1 G T 15: 78,767,555 (GRCm39) V98L possibly damaging Het
Gpr6 C T 10: 40,946,812 (GRCm39) A257T probably damaging Het
Mex3c C T 18: 73,722,960 (GRCm39) T351M probably damaging Het
Or10d4c T A 9: 39,558,636 (GRCm39) S205T probably benign Het
Or10g3b A G 14: 52,587,167 (GRCm39) V112A probably benign Het
Or5ar1 A T 2: 85,671,706 (GRCm39) V143D probably benign Het
Or5g26 A T 2: 85,494,700 (GRCm39) V26D probably benign Het
Prex1 A G 2: 166,451,743 (GRCm39) Y412H probably damaging Het
Slc25a25 A T 2: 32,309,172 (GRCm39) V75E probably benign Het
Sv2c A G 13: 96,184,937 (GRCm39) C247R probably damaging Het
Trpm5 A T 7: 142,636,728 (GRCm39) V403E probably benign Het
Wdr17 A G 8: 55,140,746 (GRCm39) V202A probably damaging Het
Zscan25 A G 5: 145,220,559 (GRCm39) E118G probably damaging Het
Other mutations in Arsb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00334:Arsb APN 13 94,075,787 (GRCm39) missense probably benign 0.01
IGL01560:Arsb APN 13 93,944,106 (GRCm39) missense probably benign 0.01
IGL02408:Arsb APN 13 93,930,670 (GRCm39) missense probably benign 0.19
IGL03396:Arsb APN 13 94,075,825 (GRCm39) missense probably benign 0.01
dipper UTSW 13 93,926,574 (GRCm39) missense possibly damaging 0.95
ouzel UTSW 13 93,930,728 (GRCm39) critical splice donor site probably null
rivulet UTSW 13 93,998,835 (GRCm39) missense probably damaging 1.00
R0145:Arsb UTSW 13 93,998,795 (GRCm39) missense possibly damaging 0.60
R0379:Arsb UTSW 13 94,077,135 (GRCm39) missense probably benign 0.20
R0488:Arsb UTSW 13 94,077,013 (GRCm39) missense probably benign
R0560:Arsb UTSW 13 93,926,706 (GRCm39) missense possibly damaging 0.66
R1938:Arsb UTSW 13 93,998,658 (GRCm39) missense probably damaging 1.00
R1968:Arsb UTSW 13 93,944,067 (GRCm39) missense probably benign 0.00
R2209:Arsb UTSW 13 93,998,609 (GRCm39) missense probably benign 0.14
R2224:Arsb UTSW 13 93,930,679 (GRCm39) missense probably damaging 1.00
R2520:Arsb UTSW 13 94,077,207 (GRCm39) nonsense probably null
R4476:Arsb UTSW 13 93,944,103 (GRCm39) missense probably damaging 1.00
R4910:Arsb UTSW 13 93,908,485 (GRCm39) missense probably benign
R5153:Arsb UTSW 13 94,077,106 (GRCm39) missense probably benign 0.20
R5185:Arsb UTSW 13 93,930,667 (GRCm39) missense probably damaging 1.00
R5272:Arsb UTSW 13 93,930,670 (GRCm39) missense possibly damaging 0.86
R5475:Arsb UTSW 13 93,998,773 (GRCm39) missense probably benign 0.00
R5580:Arsb UTSW 13 93,944,053 (GRCm39) missense probably damaging 1.00
R6371:Arsb UTSW 13 93,926,574 (GRCm39) missense possibly damaging 0.95
R6668:Arsb UTSW 13 93,930,728 (GRCm39) critical splice donor site probably null
R7084:Arsb UTSW 13 94,077,124 (GRCm39) missense probably benign 0.00
R7735:Arsb UTSW 13 93,908,491 (GRCm39) missense probably benign 0.00
R7801:Arsb UTSW 13 93,998,835 (GRCm39) missense probably damaging 1.00
R7859:Arsb UTSW 13 93,998,615 (GRCm39) missense probably benign 0.03
R8951:Arsb UTSW 13 93,944,124 (GRCm39) missense probably damaging 1.00
X0010:Arsb UTSW 13 93,930,710 (GRCm39) missense probably benign 0.01
Posted On 2012-04-20