Incidental Mutation 'R6182:Chsy3'
ID 487066
Institutional Source Beutler Lab
Gene Symbol Chsy3
Ensembl Gene ENSMUSG00000058152
Gene Name chondroitin sulfate synthase 3
Synonyms 4833446K15Rik
MMRRC Submission 044324-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6182 (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 59312414 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 296 (T296A)
Ref Sequence ENSEMBL: ENSMUSP00000079546 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080721]
AlphaFold Q5DTK1
Predicted Effect probably benign
Transcript: ENSMUST00000080721
AA Change: T296A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000079546
Gene: ENSMUSG00000058152
AA Change: T296A

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: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.4%
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts7 T C 9: 90,074,489 (GRCm39) S884P probably benign Het
Akap13 C A 7: 75,236,028 (GRCm39) A201E probably benign Het
Ces1f T G 8: 93,983,124 (GRCm39) E540A probably benign Het
Chid1 T A 7: 141,108,415 (GRCm39) M137L probably benign Het
Clec4f A G 6: 83,622,284 (GRCm39) V519A probably benign Het
Clk4 T A 11: 51,159,009 (GRCm39) F41I possibly damaging Het
Cntnap5c A G 17: 58,183,390 (GRCm39) D32G probably benign Het
Ctsl T C 13: 64,515,786 (GRCm39) Y95C probably damaging Het
Cyp2c54 T C 19: 40,036,005 (GRCm39) M302V probably benign Het
Cyp2c65 C G 19: 39,049,606 (GRCm39) L45V probably benign Het
Cyp2j6 G C 4: 96,424,323 (GRCm39) L145V probably damaging Het
Daam1 C T 12: 72,006,661 (GRCm39) Q693* probably null Het
Dgcr8 A T 16: 18,098,172 (GRCm39) D406E probably benign Het
Dock2 G T 11: 34,179,476 (GRCm39) P1760Q probably damaging Het
Epb41l2 G A 10: 25,383,715 (GRCm39) R940H probably damaging Het
Erc2 A C 14: 28,039,210 (GRCm39) D951A probably damaging Het
Fbxw7 T C 3: 84,723,078 (GRCm39) probably null Het
Frem2 T A 3: 53,555,390 (GRCm39) I1716F probably damaging Het
Fus A G 7: 127,576,465 (GRCm39) D295G probably damaging Het
Gm5093 A G 17: 46,750,568 (GRCm39) I153T probably benign Het
Gnptab T C 10: 88,265,342 (GRCm39) V318A possibly damaging Het
Gpc2 T C 5: 138,276,676 (GRCm39) D150G probably benign Het
Gsc2 A G 16: 17,731,483 (GRCm39) *215R probably null Het
Hectd3 T C 4: 116,857,476 (GRCm39) S552P probably damaging Het
Katnal1 C A 5: 148,841,407 (GRCm39) K152N possibly damaging Het
Kcnh1 A T 1: 191,873,361 (GRCm39) T16S probably damaging Het
Lrrc71 T C 3: 87,653,101 (GRCm39) D105G probably benign Het
Mon2 T C 10: 122,874,564 (GRCm39) probably null Het
Mroh9 G A 1: 162,893,612 (GRCm39) Q188* probably null Het
Mtmr14 A G 6: 113,246,469 (GRCm39) S81G possibly damaging Het
Nrap T A 19: 56,350,130 (GRCm39) M628L probably benign Het
Odad3 A G 9: 21,901,698 (GRCm39) F553S probably damaging Het
Or1o1 T A 17: 37,716,883 (GRCm39) I148K possibly damaging Het
Or5k1 A G 16: 58,617,655 (GRCm39) Y185H probably damaging Het
Pals2 A G 6: 50,175,206 (GRCm39) I506V probably benign Het
Pate4 A T 9: 35,519,586 (GRCm39) S35T possibly damaging Het
Pkd1l1 T C 11: 8,815,555 (GRCm39) E1452G probably benign Het
Pld5 T C 1: 175,872,420 (GRCm39) D239G probably benign Het
Ppef2 C T 5: 92,374,925 (GRCm39) V728M probably damaging Het
Rasip1 TGCCGCCGCCGCCGCCGCCGCCGC TGCCGCCGCCGCCGCCGCCGC 7: 45,277,879 (GRCm39) probably benign Het
Rsf1 G A 7: 97,229,117 (GRCm39) probably benign Het
Serpina3c C A 12: 104,115,690 (GRCm39) V285L probably benign Het
Serpinb9f T C 13: 33,518,405 (GRCm39) S302P probably damaging Het
Sis C T 3: 72,811,626 (GRCm39) V1642I probably benign Het
Slc12a4 G A 8: 106,674,531 (GRCm39) L601F probably damaging Het
Slc39a6 G T 18: 24,734,013 (GRCm39) N225K probably benign Het
Snrnp70 G A 7: 45,026,497 (GRCm39) R291* probably null Het
Spin1 C T 13: 51,298,374 (GRCm39) T131I probably benign Het
St18 T G 1: 6,914,342 (GRCm39) probably null Het
Stox1 A G 10: 62,500,721 (GRCm39) L613P probably damaging Het
Tgm3 T G 2: 129,867,221 (GRCm39) Y155* probably null Het
Tmem67 T C 4: 12,051,402 (GRCm39) I809V probably benign Het
Tnc T A 4: 63,927,033 (GRCm39) D831V probably damaging Het
Ttll13 A T 7: 79,909,981 (GRCm39) E762D probably benign Het
Unc5b A T 10: 60,601,015 (GRCm39) V937E probably damaging Het
Vmn1r34 A G 6: 66,614,312 (GRCm39) I142T probably damaging Het
Vmn2r104 A G 17: 20,250,507 (GRCm39) M588T probably benign Het
Vmn2r77 T C 7: 86,460,957 (GRCm39) V761A probably damaging Het
Wdr48 G T 9: 119,753,832 (GRCm39) G665W probably damaging Het
Xpot T A 10: 121,442,163 (GRCm39) R550S probably damaging Het
Ydjc A G 16: 16,964,943 (GRCm39) T33A probably benign Het
Zfc3h1 A G 10: 115,226,764 (GRCm39) T274A probably benign Het
Zfp202 G A 9: 40,118,638 (GRCm39) G17E probably damaging Het
Zfp788 T A 7: 41,299,940 (GRCm39) C859S probably damaging Het
Zscan4c T C 7: 10,740,709 (GRCm39) M76T 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
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'- GTTAAGAGAAATGGCGGAAATTCTC -3'
(R):5'- TCTCGTCACACCTTCAAGGC -3'

Sequencing Primer
(F):5'- GAGAAATGGCGGAAATTCTCTCACTC -3'
(R):5'- GTCACACCTTCAAGGCTTACC -3'
Posted On 2017-10-10