Incidental Mutation 'IGL02173:Galns'
ID282994
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Galns
Ensembl Gene ENSMUSG00000015027
Gene Namegalactosamine (N-acetyl)-6-sulfate sulfatase
SynonymsN-acetylgalactosamine-6-sulfate sulfatase
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02173
Quality Score
Status
Chromosome8
Chromosomal Location122578242-122611463 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 122598626 bp
ZygosityHeterozygous
Amino Acid Change Serine to Arginine at position 262 (S262R)
Ref Sequence ENSEMBL: ENSMUSP00000148591 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015171] [ENSMUST00000127664] [ENSMUST00000212319]
Predicted Effect probably damaging
Transcript: ENSMUST00000015171
AA Change: S262R

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000015171
Gene: ENSMUSG00000015027
AA Change: S262R

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:Sulfatase 28 353 2.3e-91 PFAM
Pfam:Phosphodiest 30 315 2.1e-11 PFAM
Pfam:Sulfatase_C 376 507 2.4e-34 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000127664
SMART Domains Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

DomainStartEndE-ValueType
Pfam:Glycos_transf_2 104 287 7.4e-31 PFAM
Pfam:Glyco_transf_7C 261 331 4.9e-8 PFAM
RICIN 406 531 9.28e-27 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212207
Predicted Effect probably damaging
Transcript: ENSMUST00000212319
AA Change: S262R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes N-acetylgalactosamine-6-sulfatase which is a lysosomal exohydrolase required for the degradation of the glycosaminoglycans, keratan sulfate, and chondroitin 6-sulfate. Sequence alterations including point, missense and nonsense mutations, as well as those that affect splicing, result in a deficiency of this enzyme. Deficiencies of this enzyme lead to Morquio A syndrome, a lysosomal storage disorder. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice are viable, fertile, and healthy in spite of lysosmal storage. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700113H08Rik A T 10: 87,225,892 H68L possibly damaging Het
4930533K18Rik A G 10: 70,872,230 noncoding transcript Het
4933409G03Rik A G 2: 68,613,057 T182A unknown Het
Abca2 T A 2: 25,441,897 D1340E probably benign Het
Abcc12 G A 8: 86,566,442 A39V probably damaging Het
Acap2 T C 16: 31,108,147 R510G possibly damaging Het
Ace G T 11: 105,988,991 R719L probably benign Het
Adarb1 A C 10: 77,321,825 F263V probably damaging Het
Ambra1 T C 2: 91,917,668 S1130P probably benign Het
Aqp7 A T 4: 41,034,379 L260* probably null Het
Cntn5 G T 9: 9,748,396 S493R probably damaging Het
Crhr2 A G 6: 55,103,180 F138S probably damaging Het
D2hgdh T A 1: 93,829,889 D175E probably benign Het
Dtx4 G T 19: 12,473,257 Y530* probably null Het
Elp4 T A 2: 105,702,743 H419L probably damaging Het
Etv6 A G 6: 134,248,727 D218G possibly damaging Het
Exoc5 A G 14: 49,034,801 probably benign Het
Fyb C T 15: 6,580,695 P250S probably benign Het
Gaa A G 11: 119,274,913 Y84C probably damaging Het
Gm4737 T C 16: 46,154,078 N312S probably benign Het
Kctd16 T C 18: 40,530,853 I345T probably benign Het
Lats2 A G 14: 57,697,260 V671A probably damaging Het
Maml3 C A 3: 51,690,787 L179F probably damaging Het
Myo1f T C 17: 33,607,344 L1089P probably damaging Het
Nadsyn1 A T 7: 143,804,006 probably benign Het
Olfr1502 A G 19: 13,862,014 T74A probably benign Het
Olfr39 T C 9: 20,286,395 V240A probably benign Het
Olfr394 A G 11: 73,888,123 M83T possibly damaging Het
Olfr639 G A 7: 104,011,830 P291S probably damaging Het
Otog T C 7: 46,276,741 probably benign Het
Pcbd1 A G 10: 61,092,204 probably benign Het
Pced1a A G 2: 130,422,328 V164A possibly damaging Het
Pgd A G 4: 149,156,753 I233T probably damaging Het
Ror2 C T 13: 53,110,728 S764N probably damaging Het
Sec24d A T 3: 123,353,681 H733L probably damaging Het
Slc1a2 T A 2: 102,743,861 N205K probably benign Het
Sstr2 G T 11: 113,625,016 V254L probably damaging Het
Tm9sf2 G T 14: 122,143,423 V308F probably benign Het
Tor3a T C 1: 156,674,206 K34E probably benign Het
Tsta3 A G 15: 75,926,185 S233P probably damaging Het
Ubr4 T A 4: 139,437,070 probably null Het
Vmn1r56 A G 7: 5,196,118 S167P probably damaging Het
Zswim3 T A 2: 164,820,839 I413N probably damaging Het
Other mutations in Galns
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02401:Galns APN 8 122605199 missense probably damaging 1.00
brimstone UTSW 8 122600610 missense probably damaging 1.00
fiend UTSW 8 122611338 start codon destroyed probably null
vesuvius UTSW 8 122599348 splice site probably null
R0001:Galns UTSW 8 122595883 splice site probably benign
R0018:Galns UTSW 8 122584985 missense probably benign 0.09
R1417:Galns UTSW 8 122584913 missense possibly damaging 0.71
R1636:Galns UTSW 8 122604216 splice site probably benign
R4729:Galns UTSW 8 122603456 missense probably damaging 1.00
R4851:Galns UTSW 8 122600533 missense probably damaging 1.00
R4891:Galns UTSW 8 122599156 missense possibly damaging 0.92
R5218:Galns UTSW 8 122598589 missense probably damaging 0.99
R5532:Galns UTSW 8 122585026 missense possibly damaging 0.83
R6323:Galns UTSW 8 122598651 missense probably damaging 1.00
R6444:Galns UTSW 8 122611338 start codon destroyed probably null
R6495:Galns UTSW 8 122600610 missense probably damaging 1.00
R7215:Galns UTSW 8 122599348 splice site probably null
R7608:Galns UTSW 8 122591445 missense probably benign 0.06
R7612:Galns UTSW 8 122584954 missense possibly damaging 0.71
Z1177:Galns UTSW 8 122598523 missense probably benign 0.11
Z1177:Galns UTSW 8 122605206 missense probably damaging 1.00
Posted On2015-04-16