Incidental Mutation 'R4569:Gns'
ID 342018
Institutional Source Beutler Lab
Gene Symbol Gns
Ensembl Gene ENSMUSG00000034707
Gene Name glucosamine (N-acetyl)-6-sulfatase
Synonyms 2610016K11Rik, G6S
MMRRC Submission 041793-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.213) question?
Stock # R4569 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 121200995-121233154 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 121217083 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Arginine at position 286 (Q286R)
Ref Sequence ENSEMBL: ENSMUSP00000043167 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040344] [ENSMUST00000219249] [ENSMUST00000219505] [ENSMUST00000219851]
AlphaFold Q8BFR4
Predicted Effect probably benign
Transcript: ENSMUST00000040344
AA Change: Q286R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000043167
Gene: ENSMUSG00000034707
AA Change: Q286R

DomainStartEndE-ValueType
signal peptide 1 35 N/A INTRINSIC
Pfam:Sulfatase 39 376 1.4e-72 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217712
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219216
Predicted Effect probably benign
Transcript: ENSMUST00000219249
Predicted Effect probably benign
Transcript: ENSMUST00000219505
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219531
Predicted Effect probably benign
Transcript: ENSMUST00000219851
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220350
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219580
Meta Mutation Damage Score 0.1455 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency 99% (87/88)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610021A01Rik A G 7: 41,275,262 (GRCm39) T322A probably benign Het
Abhd13 C T 8: 10,038,071 (GRCm39) P223S possibly damaging Het
Adgra3 T A 5: 50,117,905 (GRCm39) L1214F probably damaging Het
Alkbh2 C T 5: 114,262,287 (GRCm39) E148K probably damaging Het
Ankrd13a C A 5: 114,927,373 (GRCm39) P120Q probably damaging Het
Apbb1ip A G 2: 22,739,556 (GRCm39) Y277C probably damaging Het
Arfgap1 T C 2: 180,618,166 (GRCm39) probably benign Het
Arid2 T A 15: 96,290,343 (GRCm39) V1746D probably damaging Het
C1qtnf7 T A 5: 43,766,549 (GRCm39) N49K possibly damaging Het
Cacnb2 A T 2: 14,990,811 (GRCm39) D587V possibly damaging Het
Ccar2 A T 14: 70,389,359 (GRCm39) probably null Het
Cdk2ap2 T C 19: 4,147,879 (GRCm39) F49L possibly damaging Het
Cdon A T 9: 35,388,265 (GRCm39) I747F probably damaging Het
Cyp19a1 G A 9: 54,100,607 (GRCm39) P27S probably benign Het
Cyp4v3 T A 8: 45,760,029 (GRCm39) R508W probably damaging Het
Dclk1 T C 3: 55,154,831 (GRCm39) L87P probably damaging Het
Ddx41 G A 13: 55,683,834 (GRCm39) R66C possibly damaging Het
Dmxl1 T C 18: 49,985,427 (GRCm39) Y225H probably damaging Het
Dnah7a G A 1: 53,450,818 (GRCm39) P3871S probably benign Het
Dnhd1 A G 7: 105,306,373 (GRCm39) probably null Het
Dph1 A T 11: 75,069,721 (GRCm39) probably benign Het
Egln2 A G 7: 26,859,008 (GRCm39) I382T probably damaging Het
Enpp3 A G 10: 24,652,780 (GRCm39) Y726H probably damaging Het
Fbxo32 A G 15: 58,044,873 (GRCm39) F353L probably damaging Het
Fchsd2 G A 7: 100,926,809 (GRCm39) G657D possibly damaging Het
Fer1l4 T A 2: 155,878,559 (GRCm39) E44V possibly damaging Het
Gjb2 C T 14: 57,337,762 (GRCm39) V149I probably benign Het
Glipr1l1 A G 10: 111,898,317 (GRCm39) M141V probably benign Het
Gnaq T C 19: 16,312,370 (GRCm39) S211P probably damaging Het
Gnl1 A G 17: 36,299,142 (GRCm39) R527G probably benign Het
Gon4l T C 3: 88,817,397 (GRCm39) probably benign Het
Gpr107 T C 2: 31,097,677 (GRCm39) probably benign Het
Gprasp1 C T X: 134,703,592 (GRCm39) R1262C probably damaging Het
Gtf2ird1 A T 5: 134,439,857 (GRCm39) D124E probably damaging Het
Hbp1 T A 12: 32,000,231 (GRCm39) probably benign Het
Hrnr C T 3: 93,230,875 (GRCm39) T371I unknown Het
Ints2 A G 11: 86,147,024 (GRCm39) C41R probably damaging Het
Jhy A G 9: 40,822,389 (GRCm39) I583T probably benign Het
Jph4 G T 14: 55,352,503 (GRCm39) R77S probably damaging Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Klhl12 A T 1: 134,413,507 (GRCm39) I331F probably benign Het
Map4k4 G A 1: 40,039,698 (GRCm39) R30Q probably damaging Het
Mgst1 C A 6: 138,133,213 (GRCm39) T176K probably damaging Het
Negr1 C A 3: 156,914,013 (GRCm39) probably benign Het
Nrg1 C T 8: 32,407,802 (GRCm39) V144I probably benign Het
Ntmt2 T A 1: 163,530,586 (GRCm39) *284C probably null Het
Or1ad8 T C 11: 50,898,381 (GRCm39) I194T possibly damaging Het
Otog A G 7: 45,959,571 (GRCm39) D720G probably damaging Het
Pex11b A T 3: 96,551,330 (GRCm39) probably benign Het
Phtf2 T C 5: 20,994,593 (GRCm39) probably benign Het
Ppip5k1 C T 2: 121,174,044 (GRCm39) R359Q possibly damaging Het
Prickle2 T C 6: 92,399,323 (GRCm39) I185V probably benign Het
Prrc2a G A 17: 35,377,473 (GRCm39) P562S unknown Het
Rdx A G 9: 51,980,141 (GRCm39) I245V probably benign Het
Rem2 T C 14: 54,715,116 (GRCm39) S98P probably damaging Het
Rhob T G 12: 8,549,373 (GRCm39) D87A probably damaging Het
Ros1 T A 10: 52,040,090 (GRCm39) E300D probably damaging Het
Sbf2 A G 7: 109,948,060 (GRCm39) probably null Het
Sipa1l3 G T 7: 29,025,287 (GRCm39) P619Q probably damaging Het
Snupn A G 9: 56,885,346 (GRCm39) E217G probably benign Het
Ston2 T A 12: 91,606,496 (GRCm39) *896C probably null Het
Stradb C T 1: 59,019,117 (GRCm39) R13* probably null Het
Tbx21 G A 11: 97,005,581 (GRCm39) A128V probably benign Het
Tep1 A T 14: 51,062,197 (GRCm39) C2552S probably benign Het
Tgif1 A T 17: 71,151,912 (GRCm39) V233E possibly damaging Het
Trim31 A T 17: 37,209,633 (GRCm39) I130L probably benign Het
Trrap C T 5: 144,728,928 (GRCm39) T614I probably benign Het
Ttn C A 2: 76,766,758 (GRCm39) V3107F probably damaging Het
Txnrd2 T G 16: 18,274,956 (GRCm39) D322E probably benign Het
Unc45b T A 11: 82,827,315 (GRCm39) probably null Het
Usp43 C T 11: 67,789,788 (GRCm39) C252Y probably damaging Het
Usp43 A T 11: 67,766,178 (GRCm39) L744* probably null Het
Vmn2r71 A C 7: 85,273,402 (GRCm39) K739Q possibly damaging Het
Vps16 C T 2: 130,284,124 (GRCm39) T653M probably benign Het
Wdr83os T A 8: 85,808,495 (GRCm39) S82R probably damaging Het
Xpo6 T A 7: 125,727,427 (GRCm39) L526F probably damaging Het
Zfhx4 G A 3: 5,466,894 (GRCm39) V2351I probably benign Het
Zfp558 A T 9: 18,367,799 (GRCm39) C330S possibly 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
R5264:Gns UTSW 10 121,216,090 (GRCm39) missense probably benign 0.12
R5467:Gns UTSW 10 121,227,351 (GRCm39) missense probably benign 0.00
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'- GCCAGTGCCTAGTATTTGGAC -3'
(R):5'- GTGGAAATGCTTTCTACCCGAG -3'

Sequencing Primer
(F):5'- AACAAGATTGTAGCACAGACTTATC -3'
(R):5'- GAAATGCTTTCTACCCGAGGAGTC -3'
Posted On 2015-09-24