Incidental Mutation 'R5467:Gns'
ID 433287
Institutional Source Beutler Lab
Gene Symbol Gns
Ensembl Gene ENSMUSG00000034707
Gene Name glucosamine (N-acetyl)-6-sulfatase
Synonyms 2610016K11Rik, G6S
MMRRC Submission 043028-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.199) question?
Stock # R5467 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 121200995-121233154 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 121227351 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 454 (W454R)
Ref Sequence ENSEMBL: ENSMUSP00000043167 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040344]
AlphaFold Q8BFR4
Predicted Effect probably benign
Transcript: ENSMUST00000040344
AA Change: W454R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000043167
Gene: ENSMUSG00000034707
AA Change: W454R

DomainStartEndE-ValueType
signal peptide 1 35 N/A INTRINSIC
Pfam:Sulfatase 39 376 1.4e-72 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219216
Coding Region Coverage
  • 1x: 98.2%
  • 3x: 97.2%
  • 10x: 94.9%
  • 20x: 89.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene is a lysosomal enzyme found in all cells. It is involved in the catabolism of heparin, heparan sulphate, and keratan sulphate. Deficiency of this enzyme results in the accumulation of undegraded substrate and the lysosomal storage disorder mucopolysaccharidosis type IIID (Sanfilippo D syndrome). Mucopolysaccharidosis type IIID is the least common of the four subtypes of Sanfilippo syndrome. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous KO results in progressive lysosomal glycosaminoglycan accumulation in the central nervous system and peripheral organs and causes hypoactivity and shortened lifespan. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn1 A G 12: 80,222,991 (GRCm39) M525T possibly damaging Het
Arpc5l T C 2: 38,903,751 (GRCm39) V80A possibly damaging Het
Atp7b G A 8: 22,501,570 (GRCm39) T781I probably damaging Het
Bltp3b G T 10: 89,640,961 (GRCm39) G711W probably damaging Het
Celsr3 A T 9: 108,705,836 (GRCm39) D773V probably damaging Het
Clcn6 A T 4: 148,102,093 (GRCm39) H330Q possibly damaging Het
Cwc22 ATCTCTCTCTCTCTCTCT ATCTCTCTCTCTCTCT 2: 77,759,803 (GRCm39) probably null Het
Dmbt1 C A 7: 130,642,723 (GRCm39) S180R probably damaging Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Elovl7 T C 13: 108,416,156 (GRCm39) V182A probably benign Het
Eml3 G A 19: 8,914,946 (GRCm39) W601* probably null Het
Farp1 C T 14: 121,472,489 (GRCm39) P208L probably damaging Het
Fras1 A T 5: 96,927,912 (GRCm39) Y3775F probably benign Het
Katnip T C 7: 125,442,527 (GRCm39) F812S possibly damaging Het
Kcnh2 A T 5: 24,531,765 (GRCm39) L40* probably null Het
Kmt2d G A 15: 98,749,990 (GRCm39) probably benign Het
Lrrc37 G T 11: 103,494,091 (GRCm39) C655* probably null Het
Mgl2 T A 11: 70,025,878 (GRCm39) I31N possibly damaging Het
Muc6 T C 7: 141,216,448 (GRCm39) T2677A possibly damaging Het
Ndst1 A G 18: 60,825,093 (GRCm39) S742P probably benign Het
Or10g6 G T 9: 39,933,733 (GRCm39) V15L probably benign Het
Or1o11 G T 17: 37,756,973 (GRCm39) C187F probably damaging Het
Or4d6 A C 19: 12,086,023 (GRCm39) S70A probably benign Het
Or5b112 A T 19: 13,319,521 (GRCm39) Y133F probably damaging Het
Or8g21 T C 9: 38,906,200 (GRCm39) Y177C probably benign Het
Pcdhb22 A G 18: 37,653,188 (GRCm39) D552G probably benign Het
Pikfyve T A 1: 65,291,654 (GRCm39) V1291E probably damaging Het
Ppp4r3a T C 12: 101,009,729 (GRCm39) E636G probably damaging Het
Prl5a1 A T 13: 28,333,994 (GRCm39) I166L possibly damaging Het
Rb1 T C 14: 73,449,060 (GRCm39) D690G possibly damaging Het
Sh3tc2 A G 18: 62,123,759 (GRCm39) H840R possibly damaging Het
Skida1 T C 2: 18,050,923 (GRCm39) probably benign Het
Slc31a2 A G 4: 62,210,924 (GRCm39) H19R probably damaging Het
Styxl2 C A 1: 165,939,599 (GRCm39) probably null Het
Tnks2 A T 19: 36,859,176 (GRCm39) R314W probably damaging Het
Trak1 A G 9: 121,275,864 (GRCm39) D189G probably damaging Het
Trav13n-4 T A 14: 53,601,303 (GRCm39) V24E probably damaging Het
Ylpm1 T C 12: 85,043,633 (GRCm39) Y124H unknown Het
Zfp703 C T 8: 27,469,233 (GRCm39) P299L probably damaging Het
Other mutations in Gns
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02097:Gns APN 10 121,226,598 (GRCm39) missense probably benign 0.01
PIT4402001:Gns UTSW 10 121,212,611 (GRCm39) missense probably damaging 1.00
R0086:Gns UTSW 10 121,227,378 (GRCm39) missense probably damaging 1.00
R0344:Gns UTSW 10 121,219,328 (GRCm39) missense probably benign 0.04
R0544:Gns UTSW 10 121,212,172 (GRCm39) nonsense probably null
R0626:Gns UTSW 10 121,219,349 (GRCm39) critical splice donor site probably null
R1770:Gns UTSW 10 121,213,952 (GRCm39) missense probably benign 0.00
R2142:Gns UTSW 10 121,228,683 (GRCm39) missense probably damaging 1.00
R4036:Gns UTSW 10 121,207,095 (GRCm39) missense probably damaging 1.00
R4451:Gns UTSW 10 121,212,601 (GRCm39) missense probably damaging 1.00
R4569:Gns UTSW 10 121,217,083 (GRCm39) missense probably benign 0.00
R5264:Gns UTSW 10 121,216,090 (GRCm39) missense probably benign 0.12
R7268:Gns UTSW 10 121,212,557 (GRCm39) missense probably damaging 1.00
R7588:Gns UTSW 10 121,226,563 (GRCm39) missense probably benign 0.18
R8083:Gns UTSW 10 121,214,008 (GRCm39) missense probably damaging 0.96
R9075:Gns UTSW 10 121,226,542 (GRCm39) missense probably benign 0.02
R9179:Gns UTSW 10 121,216,080 (GRCm39) missense
R9749:Gns UTSW 10 121,214,057 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- GCAGTCAGACAGTCCTTCAG -3'
(R):5'- ACTCAGAATGAAGCTGCCCG -3'

Sequencing Primer
(F):5'- CAGTCCTTCAGAGTGTGTCTC -3'
(R):5'- ATGAGCCTGACTTGCTGC -3'
Posted On 2016-10-06