Incidental Mutation 'R8215:Chsy3'
ID 636397
Institutional Source Beutler Lab
Gene Symbol Chsy3
Ensembl Gene ENSMUSG00000058152
Gene Name chondroitin sulfate synthase 3
Synonyms 4833446K15Rik
MMRRC Submission 067657-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8215 (G1)
Quality Score 111.008
Status Validated
Chromosome 18
Chromosomal Location 59308412-59544408 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 59308941 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 65 (Q65*)
Ref Sequence ENSEMBL: ENSMUSP00000079546 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080721]
AlphaFold Q5DTK1
Predicted Effect probably null
Transcript: ENSMUST00000080721
AA Change: Q65*
SMART Domains Protein: ENSMUSP00000079546
Gene: ENSMUSG00000058152
AA Change: Q65*

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
Meta Mutation Damage Score 0.9707 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 93.8%
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik G T 15: 81,949,301 (GRCm39) R1066L probably benign Het
Abca14 A C 7: 119,893,425 (GRCm39) I1292L probably benign Het
Adam34l T A 8: 44,079,538 (GRCm39) T229S probably benign Het
Adamtsl1 T G 4: 86,261,382 (GRCm39) F1206V probably benign Het
Agl T C 3: 116,582,293 (GRCm39) H243R probably damaging Het
Btn2a2 A C 13: 23,666,040 (GRCm39) L264R probably damaging Het
Ccdc33 A T 9: 57,939,995 (GRCm39) S749T probably benign Het
Cd55b CTTTT CTTTTT 1: 130,347,337 (GRCm39) probably null Het
Cdh8 A G 8: 99,757,498 (GRCm39) I700T possibly damaging Het
Cfap65 A G 1: 74,949,902 (GRCm39) L1201P probably damaging Het
Clic5 T A 17: 44,586,228 (GRCm39) L239* probably null Het
Corin T C 5: 72,462,361 (GRCm39) D957G probably damaging Het
Cped1 A T 6: 22,132,277 (GRCm39) Y486F probably damaging Het
Csnk1g3 C T 18: 54,081,151 (GRCm39) T374M probably benign Het
D930020B18Rik T A 10: 121,503,429 (GRCm39) C201* probably null Het
Dnah2 A G 11: 69,326,193 (GRCm39) F3653L probably damaging Het
F11r GGTGTG GGTGTGTG 1: 171,290,656 (GRCm39) probably null Het
Foxj3 T G 4: 119,478,808 (GRCm39) S455R unknown Het
Gcnt3 T C 9: 69,941,455 (GRCm39) D371G probably damaging Het
Gm10837 A G 14: 122,728,193 (GRCm39) E23G unknown Het
Hivep3 T C 4: 119,980,098 (GRCm39) V1712A probably damaging Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Hoxa2 A G 6: 52,140,041 (GRCm39) V315A probably damaging Het
Irx5 A T 8: 93,086,241 (GRCm39) Y108F possibly damaging Het
Itsn1 T C 16: 91,608,996 (GRCm39) I248T probably damaging Het
Kcnb1 T C 2: 166,946,361 (GRCm39) K829R probably benign Het
Klhl17 A G 4: 156,314,510 (GRCm39) V635A unknown Het
Krr1 C T 10: 111,815,834 (GRCm39) R234* probably null Het
Lrrc7 A T 3: 157,915,387 (GRCm39) D209E probably benign Het
Mcm2 T C 6: 88,874,293 (GRCm39) E71G probably damaging Het
Mroh5 C A 15: 73,691,139 (GRCm39) K10N probably damaging Het
Myh3 A G 11: 66,992,005 (GRCm39) E1850G probably damaging Het
Nedd9 T C 13: 41,492,319 (GRCm39) I64V probably benign Het
Nisch A G 14: 30,908,658 (GRCm39) S456P possibly damaging Het
Nrcam T C 12: 44,610,896 (GRCm39) V532A probably benign Het
Or51k1 T C 7: 103,661,330 (GRCm39) D193G possibly damaging Het
Or5p51 T G 7: 107,444,124 (GRCm39) D272A probably damaging Het
Or7g32 T C 9: 19,408,796 (GRCm39) F251L probably damaging Het
Or8k17 C T 2: 86,066,862 (GRCm39) V106M probably benign Het
Plekhg1 C T 10: 3,907,521 (GRCm39) P868S Het
Ptf1a A G 2: 19,450,760 (GRCm39) Q30R possibly damaging Het
Ptgs1 G T 2: 36,141,179 (GRCm39) C542F probably damaging Het
Rere T A 4: 150,701,424 (GRCm39) M1268K possibly damaging Het
Rp1 A G 1: 4,315,318 (GRCm39) F485L unknown Het
Samd14 A T 11: 94,905,213 (GRCm39) E8D probably benign Het
Serpinh1 A G 7: 98,995,545 (GRCm39) Y346H possibly damaging Het
Shq1 A T 6: 100,648,021 (GRCm39) M1K probably null Het
Tfrc T C 16: 32,443,848 (GRCm39) S551P probably damaging Het
Tnr A C 1: 159,715,860 (GRCm39) N874T possibly damaging Het
Trak1 C A 9: 121,298,096 (GRCm39) T667N probably damaging Het
Trpv2 A C 11: 62,481,757 (GRCm39) T423P probably damaging Het
Ugt1a1 CAGAGAGAGAGAGA CAGAGAGAGAGA 1: 88,139,706 (GRCm39) probably benign Het
Vmn2r24 A G 6: 123,756,077 (GRCm39) T50A probably benign Het
Xirp2 T A 2: 67,346,853 (GRCm39) D3031E probably benign Het
Zbed6 G T 1: 133,586,530 (GRCm39) A269E probably damaging Het
Zbtb4 A C 11: 69,669,598 (GRCm39) I774L probably benign Het
Zbtb47 T C 9: 121,596,344 (GRCm39) S604P probably benign Het
Zfhx3 A G 8: 109,677,349 (GRCm39) T2800A 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
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'- TGTTCCGAGCCGCTACGAT -3'
(R):5'- ACTTCTGTGCGGTCATCACA -3'

Sequencing Primer
(F):5'- AGCCGCTACGATGGCCG -3'
(R):5'- ACGTACAGGAAGTCCCCG -3'
Posted On 2020-07-13