Incidental Mutation 'PIT4402001:Gns'
ID 555533
Institutional Source Beutler Lab
Gene Symbol Gns
Ensembl Gene ENSMUSG00000034707
Gene Name glucosamine (N-acetyl)-6-sulfatase
Synonyms 2610016K11Rik, G6S
Accession Numbers
Essential gene? Probably non essential (E-score: 0.199) question?
Stock # PIT4402001 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 121200995-121233154 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 121212611 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 191 (Y191C)
Ref Sequence ENSEMBL: ENSMUSP00000043167 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040344] [ENSMUST00000219249] [ENSMUST00000219505] [ENSMUST00000219851]
AlphaFold Q8BFR4
Predicted Effect probably damaging
Transcript: ENSMUST00000040344
AA Change: Y191C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000043167
Gene: ENSMUSG00000034707
AA Change: Y191C

DomainStartEndE-ValueType
signal peptide 1 35 N/A INTRINSIC
Pfam:Sulfatase 39 376 1.4e-72 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000219249
Predicted Effect probably damaging
Transcript: ENSMUST00000219505
AA Change: Y120C

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Predicted Effect probably benign
Transcript: ENSMUST00000219851
Coding Region Coverage
  • 1x: 92.8%
  • 3x: 90.3%
  • 10x: 83.2%
  • 20x: 68.1%
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700129C05Rik T G 14: 59,380,084 (GRCm39) L71F probably damaging Het
Adamts9 C T 6: 92,849,328 (GRCm39) V1044I probably benign Het
Alcam T C 16: 52,115,497 (GRCm39) Y207C probably damaging Het
Aldh4a1 C A 4: 139,369,502 (GRCm39) S351* probably null Het
Aoah C A 13: 20,978,680 (GRCm39) S39R probably benign Het
Arcn1 A T 9: 44,656,899 (GRCm39) V421E possibly damaging Het
Ccdc18 A G 5: 108,306,485 (GRCm39) E300G possibly damaging Het
Cdk2ap2 C A 19: 4,148,557 (GRCm39) R126S probably damaging Het
Dcun1d4 A G 5: 73,668,276 (GRCm39) I39V probably benign Het
Fam53b A T 7: 132,361,746 (GRCm39) I94N probably damaging Het
Fam83g A G 11: 61,594,422 (GRCm39) H652R probably damaging Het
Fanca A T 8: 124,039,803 (GRCm39) M157K possibly damaging Het
Flt1 A T 5: 147,615,049 (GRCm39) I299N probably damaging Het
Gm10800 CAAGAAAACTGAAAATCAAAGAAAACTGAAAATCA CAAGAAAACTGAAAATCA 2: 98,497,361 (GRCm39) probably null Het
Grin2a T C 16: 9,462,063 (GRCm39) T690A possibly damaging Het
Gsk3b C T 16: 37,909,763 (GRCm39) probably benign Het
Igsf10 A G 3: 59,233,000 (GRCm39) V1911A probably benign Het
Igsf3 A G 3: 101,334,393 (GRCm39) K157E probably benign Het
Inpp5a T C 7: 139,091,369 (GRCm39) Y118H probably benign Het
Kmt2a A G 9: 44,752,359 (GRCm39) V1413A unknown Het
Mettl9 T A 7: 120,656,440 (GRCm39) V190E probably damaging Het
Mrps9 T C 1: 42,935,258 (GRCm39) L188P probably benign Het
Myo9a A T 9: 59,777,719 (GRCm39) R1158S possibly damaging Het
Nacad T G 11: 6,548,621 (GRCm39) Q1371P probably benign Het
Ncoa1 T C 12: 4,344,987 (GRCm39) M787V probably benign Het
Noxred1 A T 12: 87,273,855 (GRCm39) I62K probably benign Het
Or1j4 A T 2: 36,740,316 (GRCm39) H86L probably benign Het
Or2d3b T A 7: 106,514,294 (GRCm39) D296E possibly damaging Het
Or2y17 A G 11: 49,232,226 (GRCm39) Y289C probably damaging Het
Or52d1 A G 7: 103,755,657 (GRCm39) Y57C probably damaging Het
Otud6b A G 4: 14,818,185 (GRCm39) Y239H probably damaging Het
Pank1 A G 19: 34,818,366 (GRCm39) Y233H probably damaging Het
Pccb G T 9: 100,877,645 (GRCm39) D286E probably benign Het
Plek A C 11: 16,940,121 (GRCm39) L196R probably benign Het
Pou6f2 T C 13: 18,299,931 (GRCm39) H576R Het
Rbm47 T A 5: 66,184,354 (GRCm39) Y83F probably damaging Het
Rbm6 A T 9: 107,665,049 (GRCm39) Y787N probably damaging Het
Slc8a2 C A 7: 15,868,419 (GRCm39) A217E probably damaging Het
Suox G A 10: 128,507,164 (GRCm39) A288V probably damaging Het
Tbccd1 T C 16: 22,640,873 (GRCm39) I501M probably damaging Het
Tjp2 C A 19: 24,075,493 (GRCm39) G1042* probably null Het
Tmtc2 T C 10: 105,249,268 (GRCm39) Y155C probably damaging Het
Usp7 T C 16: 8,516,359 (GRCm39) N600S probably benign Het
Zer1 T C 2: 29,991,132 (GRCm39) I699V probably damaging Het
Zfp142 A G 1: 74,618,687 (GRCm39) F227S probably damaging Het
Other mutations in Gns
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02097:Gns APN 10 121,226,598 (GRCm39) missense probably benign 0.01
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
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'- TAACCCCAGCTCAGTGTGAC -3'
(R):5'- CGTGAGTCTTGGCTCTTATACAG -3'

Sequencing Primer
(F):5'- CTCAGTGTGACACAGGCAGAC -3'
(R):5'- CTTATACAGAGAAAAACAGCCTAGAG -3'
Posted On 2019-06-07