Incidental Mutation 'R8560:Chsy3'
ID 661017
Institutional Source Beutler Lab
Gene Symbol Chsy3
Ensembl Gene ENSMUSG00000058152
Gene Name chondroitin sulfate synthase 3
Synonyms 4833446K15Rik
MMRRC Submission 068523-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8560 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 59308412-59544408 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 59543130 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 756 (V756A)
Ref Sequence ENSEMBL: ENSMUSP00000079546 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080721]
AlphaFold Q5DTK1
Predicted Effect possibly damaging
Transcript: ENSMUST00000080721
AA Change: V756A

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000079546
Gene: ENSMUSG00000058152
AA Change: V756A

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: 99.5%
  • 20x: 98.6%
Validation Efficiency 98% (62/63)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aak1 T C 6: 86,958,374 (GRCm39) V819A unknown Het
Ahi1 T C 10: 20,835,814 (GRCm39) V49A probably benign Het
BB014433 GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTACACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG 8: 15,092,160 (GRCm39) probably benign Het
Ccdc87 C T 19: 4,891,901 (GRCm39) R798W probably damaging Het
Cd163 T C 6: 124,294,360 (GRCm39) L506S possibly damaging Het
Cisd3 G T 11: 97,576,689 (GRCm39) W5L possibly damaging Het
Coro1c A T 5: 113,984,249 (GRCm39) H339Q probably damaging Het
Cybc1 G T 11: 121,115,041 (GRCm39) A154D probably damaging Het
D630045J12Rik T A 6: 38,126,649 (GRCm39) I1454F probably damaging Het
Dab2ip T C 2: 35,603,144 (GRCm39) S448P probably damaging Het
Dennd5a A G 7: 109,533,898 (GRCm39) probably null Het
Depdc1a A G 3: 159,219,912 (GRCm39) K139E probably damaging Het
Dock6 T C 9: 21,714,132 (GRCm39) K1874R probably benign Het
Dst A G 1: 34,307,970 (GRCm39) H4229R probably damaging Het
Esyt3 T C 9: 99,202,375 (GRCm39) D512G probably damaging Het
Fastkd5 T A 2: 130,457,865 (GRCm39) I242L probably benign Het
Foxo3 G A 10: 42,151,278 (GRCm39) T51M possibly damaging Het
Gcfc2 T C 6: 81,900,863 (GRCm39) V59A possibly damaging Het
Gm14410 C A 2: 176,885,445 (GRCm39) C273F probably damaging Het
Gucy1b1 G T 3: 81,942,685 (GRCm39) P486T probably damaging Het
Hydin A G 8: 111,265,106 (GRCm39) N2763S probably benign Het
Ifna2 C A 4: 88,601,502 (GRCm39) W172L possibly damaging Het
Igkv6-29 T C 6: 70,115,651 (GRCm39) N48D probably benign Het
Il17ra C A 6: 120,459,226 (GRCm39) D792E possibly damaging Het
Kcnh5 G T 12: 75,023,379 (GRCm39) A563E probably damaging Het
Klra4 C A 6: 130,042,235 (GRCm39) V11L probably benign Het
Krt13 T C 11: 100,009,676 (GRCm39) E368G possibly damaging Het
Lrpprc T A 17: 85,047,495 (GRCm39) probably benign Het
Mal2 T C 15: 54,461,826 (GRCm39) I107T probably benign Het
Mc4r T C 18: 66,992,166 (GRCm39) I316V possibly damaging Het
Mdn1 T A 4: 32,743,830 (GRCm39) V4022E probably benign Het
Med12l A G 3: 58,945,026 (GRCm39) N84D probably damaging Het
Mx1 T G 16: 97,253,987 (GRCm39) T298P probably damaging Het
Myh7 T C 14: 55,213,405 (GRCm39) E1367G possibly damaging Het
Myh7b A G 2: 155,465,124 (GRCm39) E660G possibly damaging Het
Nbeal1 T A 1: 60,274,316 (GRCm39) N242K probably benign Het
Nsun5 A G 5: 135,404,743 (GRCm39) T435A probably benign Het
Or14j4 C T 17: 37,920,949 (GRCm39) S231N possibly damaging Het
Or4q3 T A 14: 50,583,794 (GRCm39) D4V probably benign Het
Or5b109 T C 19: 13,211,656 (GRCm39) L14P possibly damaging Het
Pcdhb17 C T 18: 37,619,206 (GRCm39) T332M possibly damaging Het
Pi4k2a C T 19: 42,089,151 (GRCm39) Q171* probably null Het
Plb1 T C 5: 32,460,023 (GRCm39) V421A possibly damaging Het
Prkag2 TTTTTTTTTTTTA T 5: 25,071,063 (GRCm39) probably benign Het
Prlhr A G 19: 60,456,635 (GRCm39) probably benign Het
Prpf8 T A 11: 75,382,600 (GRCm39) C435* probably null Het
Rnf183 T A 4: 62,346,735 (GRCm39) N21I probably damaging Het
Rnf41 T A 10: 128,274,222 (GRCm39) C291* probably null Het
Shd T C 17: 56,278,616 (GRCm39) S60P probably benign Het
Slc16a5 A G 11: 115,360,545 (GRCm39) T243A probably benign Het
Slc33a1 A T 3: 63,850,773 (GRCm39) I517N possibly damaging Het
Slc4a1 A C 11: 102,244,083 (GRCm39) M682R possibly damaging Het
Sphk2 A T 7: 45,361,514 (GRCm39) N245K probably damaging Het
Stx7 T C 10: 24,057,454 (GRCm39) I160T possibly damaging Het
Thbs4 T C 13: 92,891,608 (GRCm39) I836V probably damaging Het
Tmc5 A T 7: 118,268,514 (GRCm39) N861Y probably damaging Het
Trappc5 T A 8: 3,729,303 (GRCm39) W94R probably damaging Het
Trmt44 T C 5: 35,715,295 (GRCm39) I673V probably benign Het
Ttn T C 2: 76,571,615 (GRCm39) Y26426C probably damaging Het
Wdr81 C T 11: 75,336,260 (GRCm39) G591R Het
Zfp236 G A 18: 82,664,340 (GRCm39) R482W probably damaging Het
Zfp51 T A 17: 21,685,635 (GRCm39) M750K 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
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'- AAGGGAGAGTTTTCCAGAGGTC -3'
(R):5'- TGACTTCTGAAGGGCCGTAAG -3'

Sequencing Primer
(F):5'- CCAGAGGTCTTGGTCTTGAAATG -3'
(R):5'- CCGTAAGCCAGATAGGATGAC -3'
Posted On 2021-03-08