Incidental Mutation 'R3878:Chsy3'
ID 276966
Institutional Source Beutler Lab
Gene Symbol Chsy3
Ensembl Gene ENSMUSG00000058152
Gene Name chondroitin sulfate synthase 3
Synonyms 4833446K15Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3878 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 59308412-59544408 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 59542845 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 661 (F661S)
Ref Sequence ENSEMBL: ENSMUSP00000079546 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080721]
AlphaFold Q5DTK1
Predicted Effect probably damaging
Transcript: ENSMUST00000080721
AA Change: F661S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000079546
Gene: ENSMUSG00000058152
AA Change: F661S

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
low complexity region 60 78 N/A INTRINSIC
low complexity region 84 96 N/A INTRINSIC
low complexity region 125 144 N/A INTRINSIC
Pfam:Fringe 169 410 9.4e-19 PFAM
Pfam:CHGN 330 866 1.4e-194 PFAM
Pfam:Glyco_tranf_2_2 652 841 1.8e-7 PFAM
Pfam:Glyco_transf_7C 769 839 3.2e-12 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] CSS3 is a glycosyltransferase that has both glucuronyltransferase and N-acetylgalactosaminyltransferase activities (Yada et al., 2003 [PubMed 12907687]).[supplied by OMIM, Mar 2008]
Allele List at MGI

All alleles(1) : Gene trapped(1)

Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020A23Rik C T 2: 130,247,560 (GRCm39) T32M probably benign Het
A2ml1 T C 6: 128,531,324 (GRCm39) S915G probably benign Het
Ablim1 T C 19: 57,025,642 (GRCm39) probably null Het
Atosb T G 4: 43,035,867 (GRCm39) H288P probably damaging Het
Cadm2 C T 16: 66,612,329 (GRCm39) E78K probably damaging Het
Ceacam5 C T 7: 17,484,506 (GRCm39) P416L probably damaging Het
Clstn3 G A 6: 124,434,901 (GRCm39) T338I probably damaging Het
Ctif A G 18: 75,653,048 (GRCm39) I403T probably damaging Het
Dnaaf9 T C 2: 130,620,423 (GRCm39) R237G possibly damaging Het
Eprs1 T A 1: 185,148,150 (GRCm39) probably null Het
Frs2 A C 10: 116,914,815 (GRCm39) S35A probably benign Het
Gpr155 C T 2: 73,198,736 (GRCm39) W394* probably null Het
Ift140 G A 17: 25,247,918 (GRCm39) V259M probably benign Het
Igkv9-124 A T 6: 67,919,191 (GRCm39) S74T probably benign Het
Krt14 C T 11: 100,097,915 (GRCm39) V123M possibly damaging Het
Mcm2 G A 6: 88,869,990 (GRCm39) R60C probably damaging Het
Nebl T C 2: 17,398,063 (GRCm39) T457A possibly damaging Het
Nlrp4g A G 9: 124,349,362 (GRCm38) noncoding transcript Het
Nsa2 C G 13: 97,268,542 (GRCm39) G175A probably benign Het
Or8k40 T C 2: 86,584,972 (GRCm39) T37A probably benign Het
Pax1 A T 2: 147,204,228 (GRCm39) probably benign Het
Pdzd2 T C 15: 12,376,262 (GRCm39) E1291G probably benign Het
Relb G A 7: 19,351,769 (GRCm39) H115Y probably damaging Het
Rnase10 A G 14: 51,246,889 (GRCm39) E52G probably damaging Het
Sla2 G A 2: 156,717,862 (GRCm39) R137C probably damaging Het
Slc14a2 C T 18: 78,202,289 (GRCm39) V614I probably benign Het
Slc20a2 T C 8: 23,058,399 (GRCm39) L645P possibly damaging Het
Smoc2 A G 17: 14,545,879 (GRCm39) D56G probably damaging Het
Szt2 A G 4: 118,247,782 (GRCm39) S789P probably damaging Het
Tenm2 A G 11: 36,030,401 (GRCm39) probably null Het
Tm9sf3 A G 19: 41,235,152 (GRCm39) V169A probably damaging Het
Trbv13-1 C T 6: 41,093,322 (GRCm39) T86I probably benign Het
Trim24 A G 6: 37,941,708 (GRCm39) D886G probably benign Het
Trim33 A G 3: 103,259,321 (GRCm39) I1003M probably damaging Het
Trim37 T C 11: 87,096,828 (GRCm39) V777A probably benign Het
Ttc7 A C 17: 87,678,166 (GRCm39) probably benign Het
Ttn T C 2: 76,596,364 (GRCm39) D11856G possibly damaging Het
Vmn1r226 A T 17: 20,908,260 (GRCm39) D164V possibly damaging Het
Vmn1r34 G A 6: 66,614,552 (GRCm39) T62I possibly damaging Het
Wapl T C 14: 34,414,104 (GRCm39) L322P probably damaging Het
Zfp62 A G 11: 49,105,960 (GRCm39) D17G probably damaging Het
Other mutations in Chsy3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01472:Chsy3 APN 18 59,309,439 (GRCm39) missense probably damaging 1.00
IGL01543:Chsy3 APN 18 59,543,472 (GRCm39) nonsense probably null
IGL01627:Chsy3 APN 18 59,309,367 (GRCm39) missense probably damaging 1.00
IGL02232:Chsy3 APN 18 59,542,383 (GRCm39) missense possibly damaging 0.89
IGL02604:Chsy3 APN 18 59,542,187 (GRCm39) missense probably benign 0.00
IGL02888:Chsy3 APN 18 59,543,067 (GRCm39) missense probably benign 0.00
IGL03199:Chsy3 APN 18 59,309,473 (GRCm39) missense probably damaging 1.00
bajo UTSW 18 59,309,238 (GRCm39) frame shift probably null
bajo2 UTSW 18 59,309,491 (GRCm39) missense probably damaging 1.00
inferior UTSW 18 59,309,487 (GRCm39) missense probably damaging 1.00
P0045:Chsy3 UTSW 18 59,542,078 (GRCm39) nonsense probably null
R0456:Chsy3 UTSW 18 59,309,550 (GRCm39) missense probably damaging 1.00
R0605:Chsy3 UTSW 18 59,542,125 (GRCm39) missense probably damaging 0.97
R1068:Chsy3 UTSW 18 59,543,361 (GRCm39) missense probably damaging 1.00
R1479:Chsy3 UTSW 18 59,541,985 (GRCm39) missense probably benign 0.09
R1654:Chsy3 UTSW 18 59,309,488 (GRCm39) missense probably damaging 1.00
R1868:Chsy3 UTSW 18 59,309,560 (GRCm39) splice site probably null
R1938:Chsy3 UTSW 18 59,542,584 (GRCm39) missense probably damaging 1.00
R2114:Chsy3 UTSW 18 59,312,561 (GRCm39) missense probably damaging 1.00
R2146:Chsy3 UTSW 18 59,309,544 (GRCm39) missense probably benign 0.04
R3693:Chsy3 UTSW 18 59,309,080 (GRCm39) missense possibly damaging 0.88
R3787:Chsy3 UTSW 18 59,542,070 (GRCm39) missense probably damaging 1.00
R3811:Chsy3 UTSW 18 59,309,242 (GRCm39) missense probably benign 0.42
R4385:Chsy3 UTSW 18 59,312,546 (GRCm39) missense possibly damaging 0.95
R4385:Chsy3 UTSW 18 59,309,424 (GRCm39) missense probably benign 0.00
R4512:Chsy3 UTSW 18 59,543,259 (GRCm39) missense probably damaging 1.00
R4734:Chsy3 UTSW 18 59,312,485 (GRCm39) missense probably benign 0.07
R4751:Chsy3 UTSW 18 59,308,872 (GRCm39) missense possibly damaging 0.66
R4982:Chsy3 UTSW 18 59,542,839 (GRCm39) missense possibly damaging 0.78
R4982:Chsy3 UTSW 18 59,542,647 (GRCm39) missense probably benign 0.07
R5032:Chsy3 UTSW 18 59,312,543 (GRCm39) missense probably damaging 1.00
R5088:Chsy3 UTSW 18 59,312,607 (GRCm39) missense probably damaging 1.00
R5220:Chsy3 UTSW 18 59,543,102 (GRCm39) missense probably damaging 0.99
R5257:Chsy3 UTSW 18 59,542,866 (GRCm39) missense possibly damaging 0.50
R5259:Chsy3 UTSW 18 59,543,318 (GRCm39) missense probably damaging 0.96
R5558:Chsy3 UTSW 18 59,309,469 (GRCm39) missense probably damaging 1.00
R5872:Chsy3 UTSW 18 59,309,268 (GRCm39) missense probably damaging 1.00
R5990:Chsy3 UTSW 18 59,309,238 (GRCm39) frame shift probably null
R5992:Chsy3 UTSW 18 59,309,238 (GRCm39) frame shift probably null
R6064:Chsy3 UTSW 18 59,309,238 (GRCm39) frame shift probably null
R6065:Chsy3 UTSW 18 59,309,238 (GRCm39) frame shift probably null
R6182:Chsy3 UTSW 18 59,312,414 (GRCm39) missense probably benign 0.00
R6881:Chsy3 UTSW 18 59,312,480 (GRCm39) missense probably damaging 1.00
R6985:Chsy3 UTSW 18 59,309,560 (GRCm39) splice site probably null
R7046:Chsy3 UTSW 18 59,542,875 (GRCm39) missense probably benign 0.00
R7078:Chsy3 UTSW 18 59,309,149 (GRCm39) missense possibly damaging 0.51
R7105:Chsy3 UTSW 18 59,309,491 (GRCm39) missense probably damaging 1.00
R7129:Chsy3 UTSW 18 59,543,370 (GRCm39) missense probably damaging 1.00
R7151:Chsy3 UTSW 18 59,542,357 (GRCm39) missense possibly damaging 0.55
R7224:Chsy3 UTSW 18 59,542,047 (GRCm39) missense probably damaging 1.00
R7860:Chsy3 UTSW 18 59,542,299 (GRCm39) missense probably benign 0.10
R7936:Chsy3 UTSW 18 59,542,418 (GRCm39) missense probably damaging 1.00
R8010:Chsy3 UTSW 18 59,543,226 (GRCm39) missense probably damaging 1.00
R8029:Chsy3 UTSW 18 59,312,519 (GRCm39) missense possibly damaging 0.87
R8215:Chsy3 UTSW 18 59,308,941 (GRCm39) nonsense probably null
R8332:Chsy3 UTSW 18 59,542,087 (GRCm39) missense probably damaging 0.98
R8375:Chsy3 UTSW 18 59,312,585 (GRCm39) missense probably damaging 1.00
R8560:Chsy3 UTSW 18 59,543,130 (GRCm39) missense possibly damaging 0.91
R8700:Chsy3 UTSW 18 59,309,487 (GRCm39) missense probably damaging 1.00
R9040:Chsy3 UTSW 18 59,542,760 (GRCm39) missense probably damaging 0.98
R9290:Chsy3 UTSW 18 59,542,928 (GRCm39) missense probably benign 0.00
R9413:Chsy3 UTSW 18 59,309,170 (GRCm39) missense possibly damaging 0.66
R9490:Chsy3 UTSW 18 59,312,486 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATCAACAGCGGTACACAGTC -3'
(R):5'- ACAGCGTTGGAGGAAGTCTC -3'

Sequencing Primer
(F):5'- AGCGGTACACAGTCATTCTCCG -3'
(R):5'- GGAAGTCTCCTCTGAAAATCAAGTC -3'
Posted On 2015-04-06