Incidental Mutation 'R9040:Chsy3'
ID 687695
Institutional Source Beutler Lab
Gene Symbol Chsy3
Ensembl Gene ENSMUSG00000058152
Gene Name chondroitin sulfate synthase 3
Synonyms 4833446K15Rik
MMRRC Submission 068867-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9040 (G1)
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 59308412-59544408 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 59542760 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 633 (Y633H)
Ref Sequence ENSEMBL: ENSMUSP00000079546 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080721]
AlphaFold Q5DTK1
Predicted Effect probably damaging
Transcript: ENSMUST00000080721
AA Change: Y633H

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000079546
Gene: ENSMUSG00000058152
AA Change: Y633H

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (59/59)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34 A C 8: 44,103,363 (GRCm39) probably benign Het
Agap1 T C 1: 89,671,466 (GRCm39) V391A probably damaging Het
Apba2 C T 7: 64,393,072 (GRCm39) A531V possibly damaging Het
Apcdd1 T A 18: 63,070,414 (GRCm39) V227E probably damaging Het
Bbs7 A G 3: 36,629,987 (GRCm39) V564A probably benign Het
Ccdc154 T A 17: 25,382,793 (GRCm39) M141K possibly damaging Het
Cd200l1 C A 16: 45,264,509 (GRCm39) K16N possibly damaging Het
Cdk9 C A 2: 32,597,999 (GRCm39) Q352H probably benign Het
Cpz T A 5: 35,672,835 (GRCm39) Y195F possibly damaging Het
Cyp3a16 T C 5: 145,392,922 (GRCm39) R128G possibly damaging Het
Dhodh A T 8: 110,328,781 (GRCm39) probably benign Het
Dlec1 G A 9: 118,950,985 (GRCm39) S517N probably benign Het
Dock7 A T 4: 98,889,364 (GRCm39) L175* probably null Het
Duxf1 A G 10: 58,059,608 (GRCm39) I382T unknown Het
Ect2l A T 10: 18,077,098 (GRCm39) S2T possibly damaging Het
Epn3 G A 11: 94,382,749 (GRCm39) S445F possibly damaging Het
Gm40460 GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG 7: 141,794,171 (GRCm39) probably benign Het
Gm7298 T C 6: 121,764,438 (GRCm39) F1439S probably benign Het
Hormad1 A T 3: 95,487,470 (GRCm39) E289D possibly damaging Het
Idua T C 5: 108,828,929 (GRCm39) L391P probably damaging Het
Kank2 G T 9: 21,706,115 (GRCm39) A301E probably damaging Het
Kcnk10 C T 12: 98,401,098 (GRCm39) E526K probably benign Het
Kif16b T C 2: 142,691,798 (GRCm39) I229V probably benign Het
Krt25 T C 11: 99,207,379 (GRCm39) Y400C probably benign Het
Krt26 C T 11: 99,222,093 (GRCm39) G405S probably benign Het
Krt42 G A 11: 100,157,859 (GRCm39) R202W probably damaging Het
Lbr A G 1: 181,644,910 (GRCm39) V547A probably damaging Het
Lrrc8b T C 5: 105,628,161 (GRCm39) L169P probably benign Het
Midn T A 10: 79,989,918 (GRCm39) V262D probably damaging Het
Mroh9 T A 1: 162,890,069 (GRCm39) I223F probably benign Het
Mtor C A 4: 148,548,205 (GRCm39) A490E probably benign Het
Muc16 G A 9: 18,556,082 (GRCm39) Q3404* probably null Het
Myo5a A T 9: 75,081,341 (GRCm39) E975D probably benign Het
Ncoa7 T C 10: 30,530,389 (GRCm39) Y764C probably benign Het
Nedd4l T C 18: 65,342,734 (GRCm39) L769P probably damaging Het
Or11g25 G T 14: 50,722,995 (GRCm39) G27W probably benign Het
Pank4 C G 4: 155,064,559 (GRCm39) T706R probably benign Het
Plxnc1 G T 10: 94,779,379 (GRCm39) C354* probably null Het
Prkca A G 11: 107,905,186 (GRCm39) I184T possibly damaging Het
Prune2 T C 19: 17,097,991 (GRCm39) V1165A probably damaging Het
Psmc6 T A 14: 45,581,111 (GRCm39) D302E probably benign Het
Rab11fip5 A G 6: 85,324,915 (GRCm39) L464P probably damaging Het
Reg1 A T 6: 78,403,268 (GRCm39) probably benign Het
Rhbdf1 T C 11: 32,163,063 (GRCm39) T438A probably benign Het
Ryr2 T C 13: 11,609,672 (GRCm39) R4385G probably damaging Het
Ryr3 A G 2: 112,784,731 (GRCm39) Y237H probably damaging Het
Scai G T 2: 38,965,164 (GRCm39) T560K probably benign Het
Scn1a A G 2: 66,148,245 (GRCm39) L80P probably damaging Het
Sez6 T C 11: 77,864,762 (GRCm39) L574P probably benign Het
Slc41a1 T G 1: 131,768,623 (GRCm39) S194A probably damaging Het
Slc6a7 T C 18: 61,134,360 (GRCm39) probably benign Het
Slit3 A G 11: 35,594,136 (GRCm39) H1442R probably damaging Het
Sra1 A T 18: 36,808,790 (GRCm39) L281Q probably damaging Het
Steap2 A T 5: 5,732,722 (GRCm39) W101R probably benign Het
Tfap2b C T 1: 19,304,314 (GRCm39) R375W probably damaging Het
Tfr2 A T 5: 137,572,967 (GRCm39) T233S probably benign Het
Traf3ip1 T A 1: 91,429,092 (GRCm39) H286Q probably damaging Het
Ubash3a A G 17: 31,457,960 (GRCm39) probably benign Het
Vmn2r85 A G 10: 130,254,311 (GRCm39) I791T probably damaging Het
Zkscan4 T C 13: 21,668,229 (GRCm39) C256R probably benign Het
Zscan4-ps3 A T 7: 11,346,638 (GRCm39) N225Y probably benign 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
R3878:Chsy3 UTSW 18 59,542,845 (GRCm39) missense probably damaging 1.00
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
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
Posted On 2021-11-19