Incidental Mutation 'IGL01146:Chst5'
ID51835
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Chst5
Ensembl Gene ENSMUSG00000031952
Gene Namecarbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5
SynonymsGST-4, I-GlcNAc6ST
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01146
Quality Score
Status
Chromosome8
Chromosomal Location111889136-111910447 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 111890682 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Tyrosine at position 102 (C102Y)
Ref Sequence ENSEMBL: ENSMUSP00000034430 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034430]
Predicted Effect probably damaging
Transcript: ENSMUST00000034430
AA Change: C102Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034430
Gene: ENSMUSG00000031952
AA Change: C102Y

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
Pfam:Sulfotransfer_1 40 357 1.2e-25 PFAM
Pfam:Sulfotransfer_3 41 294 4.7e-16 PFAM
low complexity region 363 376 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an enzyme that catalyzes the transfer of a sulfate group to the GlcNAc residues of keratan. Keratan sulfate helps maintain corneal transparency. Defects in this gene are a cause of macular corneal dystrophy (MCD). [provided by RefSeq, Jan 2010]
PHENOTYPE: Homozygous mutation of this gene results in thinner corneas that show abnormally close collagen fibrillar packing. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810009J06Rik T C 6: 40,966,283 I54T probably damaging Het
4921501E09Rik A G 17: 33,065,383 L815S possibly damaging Het
4930402H24Rik C T 2: 130,770,671 probably null Het
Acss2 T C 2: 155,562,037 V701A possibly damaging Het
Adam6a A T 12: 113,544,220 Y71F probably damaging Het
Arhgef37 A T 18: 61,518,010 I148N possibly damaging Het
Bhlhe40 T C 6: 108,664,940 S282P possibly damaging Het
Bmp2 A T 2: 133,561,300 Q257L probably benign Het
C2cd4d A G 3: 94,364,463 probably benign Het
Calcr T A 6: 3,700,144 Y316F possibly damaging Het
Ccdc186 T C 19: 56,809,317 E274G probably damaging Het
Cdc34b G T 11: 94,742,594 D207Y probably benign Het
Cnbd2 T A 2: 156,312,614 probably benign Het
Dnm1l T C 16: 16,314,325 D549G probably benign Het
Gm4847 T A 1: 166,634,952 D323V probably damaging Het
Gm9843 G A 16: 76,403,367 noncoding transcript Het
Gopc A G 10: 52,358,867 V120A probably benign Het
Kmt2c T G 5: 25,308,512 M3095L probably damaging Het
Man1a T C 10: 53,907,519 E629G possibly damaging Het
Pde4b T A 4: 102,255,263 S12T possibly damaging Het
Phf2 A T 13: 48,819,607 L391Q unknown Het
Plekha7 G A 7: 116,157,473 probably benign Het
Pmpcb T A 5: 21,740,478 probably benign Het
Poc1a T C 9: 106,305,304 Y285H probably benign Het
Polr1e T C 4: 45,031,369 L387S probably damaging Het
Prr9 A T 3: 92,123,197 C45* probably null Het
Rnf157 T C 11: 116,350,086 H393R probably benign Het
Rps6ka4 A G 19: 6,831,128 F554L probably damaging Het
Sez6l A G 5: 112,428,409 S861P probably damaging Het
Sh3tc2 G T 18: 61,989,511 D448Y probably damaging Het
Smg6 T G 11: 74,930,428 Y508* probably null Het
Sult6b2 C T 6: 142,804,308 G28D probably benign Het
Traf2 C A 2: 25,524,919 C303F probably benign Het
Other mutations in Chst5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02336:Chst5 APN 8 111890317 missense probably damaging 0.99
IGL02634:Chst5 APN 8 111890845 missense probably damaging 1.00
R0606:Chst5 UTSW 8 111890919 missense probably benign 0.05
R1552:Chst5 UTSW 8 111890280 missense probably damaging 0.99
R2094:Chst5 UTSW 8 111890544 missense probably benign 0.01
R3769:Chst5 UTSW 8 111889881 missense possibly damaging 0.67
R4135:Chst5 UTSW 8 111890184 missense probably damaging 1.00
R4872:Chst5 UTSW 8 111890560 missense possibly damaging 0.61
R5658:Chst5 UTSW 8 111890790 missense probably damaging 1.00
R5759:Chst5 UTSW 8 111890210 missense probably benign 0.25
R5893:Chst5 UTSW 8 111890196 missense probably damaging 1.00
R6657:Chst5 UTSW 8 111890274 missense probably benign 0.00
R6731:Chst5 UTSW 8 111890044 missense probably benign 0.00
R7406:Chst5 UTSW 8 111890613 missense probably benign 0.00
R7535:Chst5 UTSW 8 111890163 missense probably damaging 1.00
R7727:Chst5 UTSW 8 111890925 missense probably benign 0.25
R7835:Chst5 UTSW 8 111890602 missense probably damaging 1.00
R7843:Chst5 UTSW 8 111890572 missense probably benign 0.00
R7918:Chst5 UTSW 8 111890602 missense probably damaging 1.00
R7926:Chst5 UTSW 8 111890572 missense probably benign 0.00
Posted On2013-06-21