Incidental Mutation 'R8010:Chsy3'
ID 616882
Institutional Source Beutler Lab
Gene Symbol Chsy3
Ensembl Gene ENSMUSG00000058152
Gene Name chondroitin sulfate synthase 3
Synonyms 4833446K15Rik
MMRRC Submission 046050-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8010 (G1)
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 59308412-59544408 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 59543226 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 788 (Y788C)
Ref Sequence ENSEMBL: ENSMUSP00000079546 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080721]
AlphaFold Q5DTK1
Predicted Effect probably damaging
Transcript: ENSMUST00000080721
AA Change: Y788C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000079546
Gene: ENSMUSG00000058152
AA Change: Y788C

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: 99.8%
  • 20x: 99.4%
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 T A 6: 128,557,303 (GRCm39) H130L probably benign Het
Abca1 A G 4: 53,127,600 (GRCm39) S140P probably benign Het
Aoc1 T C 6: 48,882,582 (GRCm39) Y153H probably benign Het
Arhgdib A G 6: 136,903,720 (GRCm39) I118T probably damaging Het
Atp1a3 T A 7: 24,680,070 (GRCm39) E865V possibly damaging Het
Atrnl1 T C 19: 57,670,878 (GRCm39) V587A probably benign Het
Ccdc107 G T 4: 43,495,768 (GRCm39) E199* probably null Het
Cd55 A T 1: 130,387,353 (GRCm39) D148E probably benign Het
Cdc42ep1 C T 15: 78,731,999 (GRCm39) T148I possibly damaging Het
Cep164 A T 9: 45,734,969 (GRCm39) D19E unknown Het
Cttnbp2 G C 6: 18,426,092 (GRCm39) A762G possibly damaging Het
Cubn A G 2: 13,340,897 (GRCm39) probably null Het
Ddr1 T A 17: 36,002,384 (GRCm39) M175L possibly damaging Het
Dicer1 C A 12: 104,658,391 (GRCm39) K1850N probably damaging Het
Dnajc6 C T 4: 101,475,611 (GRCm39) R495C probably benign Het
Ecpas T A 4: 58,832,681 (GRCm39) Q893L unknown Het
Fbh1 A T 2: 11,772,443 (GRCm39) N79K probably benign Het
Frmpd1 T A 4: 45,284,272 (GRCm39) V1031D possibly damaging Het
Gm7298 A G 6: 121,712,542 (GRCm39) E118G probably benign Het
Hnrnpll T C 17: 80,369,385 (GRCm39) T13A unknown Het
Jcad A G 18: 4,674,581 (GRCm39) D781G probably benign Het
Kitl A T 10: 99,887,765 (GRCm39) T25S probably benign Het
Krt5 T C 15: 101,620,791 (GRCm39) D152G probably damaging Het
Krtap5-5 T C 7: 141,783,648 (GRCm39) M1V probably null Het
Ktn1 C T 14: 47,943,230 (GRCm39) T862I possibly damaging Het
Mapk4 A T 18: 74,063,647 (GRCm39) I525N probably benign Het
Megf6 T C 4: 154,354,964 (GRCm39) F1457S probably benign Het
Mrm3 A T 11: 76,141,173 (GRCm39) S394C probably damaging Het
Mtmr4 T G 11: 87,489,690 (GRCm39) V71G probably damaging Het
Nek8 T C 11: 78,067,422 (GRCm39) Y4C probably damaging Het
Or13g1 T A 7: 85,956,260 (GRCm39) E20D probably benign Het
Or5ac21 T C 16: 59,123,867 (GRCm39) M117T probably damaging Het
Or7g30 A T 9: 19,352,988 (GRCm39) I260L probably benign Het
Pla2r1 T C 2: 60,345,304 (GRCm39) T351A probably benign Het
Plcb4 C T 2: 135,749,480 (GRCm39) T49M probably benign Het
Psg20 T C 7: 18,414,992 (GRCm39) D301G probably benign Het
Ptpn13 C T 5: 103,707,803 (GRCm39) Q1455* probably null Het
Rbbp8 A T 18: 11,855,290 (GRCm39) N505I possibly damaging Het
Rgs18 A G 1: 144,631,738 (GRCm39) C125R probably benign Het
Rpap2 G A 5: 107,751,471 (GRCm39) C105Y probably damaging Het
Scn10a C T 9: 119,490,233 (GRCm39) G570R possibly damaging Het
Sell C T 1: 163,893,081 (GRCm39) T99I possibly damaging Het
Slc14a1 A T 18: 78,159,704 (GRCm39) M63K probably benign Het
Sp140l2 G A 1: 85,224,671 (GRCm39) S288L possibly damaging Het
Syne2 A T 12: 75,977,512 (GRCm39) D1319V probably benign Het
Tdp2 C T 13: 25,020,010 (GRCm39) T99I probably damaging Het
Tet3 A T 6: 83,380,228 (GRCm39) S647T unknown Het
Tpd52l1 T G 10: 31,234,009 (GRCm39) D48A possibly damaging Het
Ttll10 T C 4: 156,131,618 (GRCm39) D169G probably damaging Het
Wars2 C A 3: 99,124,146 (GRCm39) L336I probably benign Het
Wdfy4 C A 14: 32,693,584 (GRCm39) W2906L Het
Xdh A T 17: 74,216,312 (GRCm39) Y711* probably null Het
Xirp1 T A 9: 119,846,890 (GRCm39) R664S 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
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'- ACGCTGTCGAGACAATACAGTTC -3'
(R):5'- TGCATGGTTGAGGCAAAAGTAC -3'

Sequencing Primer
(F):5'- CAGTTCAGGGACAACAGGTATATTAC -3'
(R):5'- AGCACATCTTATACTGCTTAGGGTC -3'
Posted On 2020-01-23