Incidental Mutation 'R8332:Chsy3'
ID 644454
Institutional Source Beutler Lab
Gene Symbol Chsy3
Ensembl Gene ENSMUSG00000058152
Gene Name chondroitin sulfate synthase 3
Synonyms 4833446K15Rik
MMRRC Submission 067728-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8332 (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 A at 59542087 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 408 (H408Q)
Ref Sequence ENSEMBL: ENSMUSP00000079546 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080721]
AlphaFold Q5DTK1
Predicted Effect probably damaging
Transcript: ENSMUST00000080721
AA Change: H408Q

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000079546
Gene: ENSMUSG00000058152
AA Change: H408Q

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: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 A G 7: 119,815,436 (GRCm39) D228G probably benign Het
Adgrv1 C T 13: 81,593,462 (GRCm39) R4175H probably damaging Het
Ahdc1 A G 4: 132,791,282 (GRCm39) D841G possibly damaging Het
Alms1 G A 6: 85,597,561 (GRCm39) V796I probably benign Het
Angptl8 A T 9: 21,748,137 (GRCm39) probably null Het
Arhgap23 A T 11: 97,381,960 (GRCm39) S61T unknown Het
Bcl9 C T 3: 97,117,086 (GRCm39) G536D possibly damaging Het
Bscl2 A G 19: 8,823,594 (GRCm39) D220G probably benign Het
Ccl28 C A 13: 120,107,514 (GRCm39) C58* probably null Het
Ccr8 A T 9: 119,923,440 (GRCm39) Y185F probably damaging Het
Cntrl A G 2: 35,016,037 (GRCm39) E351G probably damaging Het
Cog5 A T 12: 31,883,222 (GRCm39) K384* probably null Het
Cpne1 T C 2: 155,920,317 (GRCm39) T187A probably benign Het
Crat T A 2: 30,295,084 (GRCm39) I444F possibly damaging Het
Crb1 T A 1: 139,165,152 (GRCm39) M1052L probably damaging Het
Cstdc1 A G 2: 148,625,377 (GRCm39) K104E probably damaging Het
Erp44 A G 4: 48,243,475 (GRCm39) probably null Het
Flad1 G T 3: 89,314,828 (GRCm39) Q290K probably benign Het
Gata3os G A 2: 9,887,650 (GRCm39) R17H unknown Het
Gli3 G T 13: 15,888,133 (GRCm39) R516L possibly damaging Het
Gm19402 A T 10: 77,526,048 (GRCm39) C182S unknown Het
Herc2 T C 7: 55,796,343 (GRCm39) I1905T probably damaging Het
Ikbkb A T 8: 23,155,641 (GRCm39) V617D possibly damaging Het
Intu A G 3: 40,629,719 (GRCm39) I350V probably benign Het
Limd1 A G 9: 123,308,319 (GRCm39) D6G probably damaging Het
Llgl1 A G 11: 60,601,210 (GRCm39) D716G possibly damaging Het
Lrp1 G A 10: 127,407,805 (GRCm39) T1828I probably damaging Het
Or2at1 T C 7: 99,417,334 (GRCm39) *322Q probably null Het
Or6c38 A G 10: 128,929,174 (GRCm39) I223T possibly damaging Het
Piezo2 A T 18: 63,145,857 (GRCm39) I2689N possibly damaging Het
Prag1 T C 8: 36,613,457 (GRCm39) I1003T probably damaging Het
Rbm8a2 T C 1: 175,805,967 (GRCm39) D170G unknown Het
Rnf213 A C 11: 119,374,524 (GRCm39) Q5027P Het
Robo1 T C 16: 72,775,466 (GRCm39) Y664H probably damaging Het
Rrn3 T A 16: 13,616,484 (GRCm39) D287E possibly damaging Het
Slc22a16 G A 10: 40,449,741 (GRCm39) R80Q possibly damaging Het
Slc4a4 A T 5: 89,327,680 (GRCm39) T706S probably benign Het
Srek1ip1 A T 13: 104,970,757 (GRCm39) R69S possibly damaging Het
St3gal5 T A 6: 72,119,165 (GRCm39) C119* probably null Het
T2 A G 17: 8,609,784 (GRCm39) M78V probably null Het
Taok1 A T 11: 77,432,545 (GRCm39) V756D possibly damaging Het
Tecta C T 9: 42,286,310 (GRCm39) G782D probably damaging Het
Thbs2 G A 17: 14,900,032 (GRCm39) P615L probably damaging Het
Ttll11 T A 2: 35,830,721 (GRCm39) I217F possibly damaging Het
Vmn2r57 C T 7: 41,049,677 (GRCm39) V691M probably benign Het
Xkr4 T C 1: 3,492,122 (GRCm39) Y267C probably damaging Het
Zfp59 A G 7: 27,552,971 (GRCm39) D141G probably benign Het
Zfp760 A G 17: 21,942,301 (GRCm39) E492G 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
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
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'- TAACGAAGTGCCACATTAGTTCG -3'
(R):5'- TCAGGAACTCCCACTCCATG -3'

Sequencing Primer
(F):5'- ATTAACTATTTTCATGCTCCTTCTCC -3'
(R):5'- GGAACTCCCACTCCATGACTTC -3'
Posted On 2020-09-02