Incidental Mutation 'R3769:Chst5'
ID 273170
Institutional Source Beutler Lab
Gene Symbol Chst5
Ensembl Gene ENSMUSG00000031952
Gene Name carbohydrate sulfotransferase 5
Synonyms I-GlcNAc6ST, GST-4
MMRRC Submission 040746-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3769 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 112615767-112636831 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 112616513 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 369 (D369V)
Ref Sequence ENSEMBL: ENSMUSP00000034430 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034430]
AlphaFold Q9QUP4
Predicted Effect possibly damaging
Transcript: ENSMUST00000034430
AA Change: D369V

PolyPhen 2 Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000034430
Gene: ENSMUSG00000031952
AA Change: D369V

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
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.4%
Validation Efficiency 98% (47/48)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apol9a G C 15: 77,288,596 (GRCm39) T257S probably benign Het
Arhgap23 A T 11: 97,366,932 (GRCm39) D1071V probably damaging Het
C3 C T 17: 57,512,303 (GRCm39) D1542N possibly damaging Het
Ccer1 G A 10: 97,530,414 (GRCm39) G359E probably damaging Het
Cdkal1 T C 13: 29,736,386 (GRCm39) probably null Het
Celf1 T C 2: 90,828,993 (GRCm39) V20A probably damaging Het
Cep350 G A 1: 155,828,950 (GRCm39) T318I probably damaging Het
Chn2 A G 6: 54,267,396 (GRCm39) D159G probably damaging Het
Cmya5 A T 13: 93,233,201 (GRCm39) I629K possibly damaging Het
Cplx4 T C 18: 66,102,998 (GRCm39) T41A probably benign Het
Ddx3x T C X: 13,156,808 (GRCm39) probably benign Het
Dock7 T C 4: 98,859,066 (GRCm39) T1409A probably benign Het
Dpy19l4 T C 4: 11,276,868 (GRCm39) probably null Het
Fgf10 G T 13: 118,918,083 (GRCm39) V124F probably damaging Het
Gm6356 C A 14: 6,971,774 (GRCm38) M120I probably benign Het
Gm7964 T A 7: 83,405,338 (GRCm39) V76D probably damaging Het
Gm826 A G 2: 160,169,165 (GRCm39) V48A unknown Het
Hoxb5 A G 11: 96,194,795 (GRCm39) D119G possibly damaging Het
Ifna7 T C 4: 88,734,964 (GRCm39) V167A probably damaging Het
Itgb2 T C 10: 77,385,802 (GRCm39) V255A possibly damaging Het
Klf3 A G 5: 64,984,560 (GRCm39) probably null Het
Mgl2 T C 11: 70,026,659 (GRCm39) L128P probably damaging Het
Or1ad6 A G 11: 50,860,385 (GRCm39) D180G probably damaging Het
Pdia6 T C 12: 17,320,457 (GRCm39) V32A probably damaging Het
Pex6 G T 17: 47,035,311 (GRCm39) probably null Het
Pla2g5 C G 4: 138,528,746 (GRCm39) C70S probably damaging Het
Pole4 G A 6: 82,599,095 (GRCm39) R119C possibly damaging Het
Polr2c G A 8: 95,586,928 (GRCm39) A65T probably damaging Het
Ptpru C T 4: 131,535,735 (GRCm39) C414Y probably damaging Het
Rhot2 T C 17: 26,059,521 (GRCm39) D407G probably benign Het
Scn5a G A 9: 119,381,142 (GRCm39) probably benign Het
Sh3rf3 A G 10: 58,820,013 (GRCm39) T275A probably benign Het
Slc27a2 A G 2: 126,409,718 (GRCm39) D300G possibly damaging Het
Slc35e1 A T 8: 73,245,714 (GRCm39) I155N possibly damaging Het
Slco1a4 A G 6: 141,785,357 (GRCm39) Y78H probably damaging Het
Snx15 T A 19: 6,173,984 (GRCm39) probably benign Het
Top1 A T 2: 160,563,442 (GRCm39) I758F probably damaging Het
U2surp A G 9: 95,375,750 (GRCm39) probably benign Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Ulk4 A G 9: 121,092,766 (GRCm39) V157A probably benign Het
Urgcp T C 11: 5,667,000 (GRCm39) Y446C probably damaging Het
Vps51 T C 19: 6,126,378 (GRCm39) T125A possibly damaging Het
Ypel1 T C 16: 16,927,532 (GRCm39) H20R probably benign Het
Zfp458 T A 13: 67,405,546 (GRCm39) I298F probably damaging Het
Zfp747l1 A G 7: 126,984,035 (GRCm39) probably benign Het
Other mutations in Chst5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01146:Chst5 APN 8 112,617,314 (GRCm39) missense probably damaging 1.00
IGL02336:Chst5 APN 8 112,616,949 (GRCm39) missense probably damaging 0.99
IGL02634:Chst5 APN 8 112,617,477 (GRCm39) missense probably damaging 1.00
R0606:Chst5 UTSW 8 112,617,551 (GRCm39) missense probably benign 0.05
R1552:Chst5 UTSW 8 112,616,912 (GRCm39) missense probably damaging 0.99
R2094:Chst5 UTSW 8 112,617,176 (GRCm39) missense probably benign 0.01
R4135:Chst5 UTSW 8 112,616,816 (GRCm39) missense probably damaging 1.00
R4872:Chst5 UTSW 8 112,617,192 (GRCm39) missense possibly damaging 0.61
R5658:Chst5 UTSW 8 112,617,422 (GRCm39) missense probably damaging 1.00
R5759:Chst5 UTSW 8 112,616,842 (GRCm39) missense probably benign 0.25
R5893:Chst5 UTSW 8 112,616,828 (GRCm39) missense probably damaging 1.00
R6657:Chst5 UTSW 8 112,616,906 (GRCm39) missense probably benign 0.00
R6731:Chst5 UTSW 8 112,616,676 (GRCm39) missense probably benign 0.00
R7406:Chst5 UTSW 8 112,617,245 (GRCm39) missense probably benign 0.00
R7535:Chst5 UTSW 8 112,616,795 (GRCm39) missense probably damaging 1.00
R7727:Chst5 UTSW 8 112,617,557 (GRCm39) missense probably benign 0.25
R7835:Chst5 UTSW 8 112,617,234 (GRCm39) missense probably damaging 1.00
R7843:Chst5 UTSW 8 112,617,204 (GRCm39) missense probably benign 0.00
R8257:Chst5 UTSW 8 112,617,092 (GRCm39) missense probably damaging 1.00
R8324:Chst5 UTSW 8 112,617,140 (GRCm39) missense probably benign 0.06
R8444:Chst5 UTSW 8 112,617,395 (GRCm39) missense probably damaging 1.00
R8458:Chst5 UTSW 8 112,617,422 (GRCm39) missense probably damaging 1.00
R9001:Chst5 UTSW 8 112,616,534 (GRCm39) missense probably benign
R9223:Chst5 UTSW 8 112,617,492 (GRCm39) missense probably benign 0.13
R9517:Chst5 UTSW 8 112,616,652 (GRCm39) missense possibly damaging 0.76
Predicted Primers PCR Primer
(F):5'- GGACTCCATCCTTTCCTAGTACAG -3'
(R):5'- AATATCACGCATGGTTCAGGG -3'

Sequencing Primer
(F):5'- GATCACTCACACTCCCAGCTACTTG -3'
(R):5'- ATGGTTCAGGGCCAGGC -3'
Posted On 2015-03-25