Incidental Mutation 'R4385:Chsy3'
ID 326194
Institutional Source Beutler Lab
Gene Symbol Chsy3
Ensembl Gene ENSMUSG00000058152
Gene Name chondroitin sulfate synthase 3
Synonyms 4833446K15Rik
MMRRC Submission 041124-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4385 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 59308412-59544408 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 59309424 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 226 (I226V)
Ref Sequence ENSEMBL: ENSMUSP00000079546 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080721]
AlphaFold Q5DTK1
Predicted Effect probably benign
Transcript: ENSMUST00000080721
AA Change: I226V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000079546
Gene: ENSMUSG00000058152
AA Change: I226V

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc3 A T 11: 94,259,065 (GRCm39) I426N probably damaging Het
Abcc6 C T 7: 45,644,752 (GRCm39) V808I possibly damaging Het
Adam23 T C 1: 63,605,787 (GRCm39) Y624H probably damaging Het
Apbb1 A G 7: 105,216,483 (GRCm39) S140P probably benign Het
Arhgef10 T A 8: 14,980,157 (GRCm39) C132* probably null Het
Boc A T 16: 44,311,545 (GRCm39) L726H probably damaging Het
Calr3 T A 8: 73,182,008 (GRCm39) D120V probably damaging Het
Cdc27 T C 11: 104,425,640 (GRCm39) R59G probably benign Het
Cfap43 T C 19: 47,785,568 (GRCm39) R441G probably benign Het
Cnot10 T A 9: 114,460,949 (GRCm39) K74* probably null Het
Col5a1 A C 2: 27,914,791 (GRCm39) M136L probably damaging Het
Coro2a A T 4: 46,541,961 (GRCm39) I387N possibly damaging Het
Csnk1g1 T C 9: 65,927,190 (GRCm39) V119A probably damaging Het
Cyfip2 C T 11: 46,133,230 (GRCm39) M823I probably benign Het
Dcbld2 A G 16: 58,283,429 (GRCm39) K555E probably damaging Het
Dpep3 A G 8: 106,704,818 (GRCm39) M164T probably damaging Het
Flg C A 3: 93,200,316 (GRCm39) probably benign Het
Hecw1 C T 13: 14,490,749 (GRCm39) D748N probably damaging Het
Ift172 T C 5: 31,444,311 (GRCm39) D37G probably damaging Het
Iglc1 A T 16: 18,880,508 (GRCm39) C104* probably null Het
Kcnh8 GAGACCAACGAGCAGCTGATGCTTCAGA GAGA 17: 53,032,934 (GRCm39) 74 probably benign Het
Klk1 A T 7: 43,877,993 (GRCm39) D83V probably benign Het
Klk1b9 T C 7: 43,443,699 (GRCm39) V71A probably benign Het
Loxhd1 A G 18: 77,460,607 (GRCm39) K806R probably damaging Het
Metap1 T C 3: 138,180,824 (GRCm39) E119G possibly damaging Het
Nbea T C 3: 55,908,059 (GRCm39) H1351R possibly damaging Het
Nim1k T C 13: 120,174,162 (GRCm39) D244G probably damaging Het
Npas1 C T 7: 16,193,110 (GRCm39) probably null Het
Pcdh15 A G 10: 74,386,322 (GRCm39) D1136G probably damaging Het
Pde6b A G 5: 108,575,508 (GRCm39) I657V probably benign Het
Pi4ka A G 16: 17,204,129 (GRCm39) V55A probably benign Het
Plxnb2 T C 15: 89,044,826 (GRCm39) N1173S probably damaging Het
Pramel23 C T 4: 143,424,584 (GRCm39) probably null Het
Ptpn13 T C 5: 103,681,273 (GRCm39) probably null Het
Ptprb A G 10: 116,182,772 (GRCm39) S1483G probably benign Het
Rbm48 G A 5: 3,640,300 (GRCm39) P360S probably damaging Het
Rbp3 G C 14: 33,677,253 (GRCm39) E400D probably benign Het
Resf1 T C 6: 149,227,706 (GRCm39) S251P possibly damaging Het
Rfpl4 A G 7: 5,113,669 (GRCm39) S165P possibly damaging Het
Scn9a A T 2: 66,314,900 (GRCm39) L1595Q probably damaging Het
Scp2 A T 4: 107,928,547 (GRCm39) V381D probably damaging Het
Sec24c G A 14: 20,740,841 (GRCm39) V620M probably damaging Het
Slc30a9 T C 5: 67,473,110 (GRCm39) Y65H probably damaging Het
Sorcs1 A G 19: 50,178,599 (GRCm39) I841T probably benign Het
Sp140l1 C T 1: 85,087,057 (GRCm39) probably null Het
Spag7 C T 11: 70,560,029 (GRCm39) A27T probably damaging Het
St6galnac6 A G 2: 32,505,036 (GRCm39) I181V possibly damaging Het
Tm9sf3 T C 19: 41,236,372 (GRCm39) M130V probably damaging Het
Ugt3a1 C T 15: 9,306,565 (GRCm39) S238F probably benign Het
Usp9y G A Y: 1,304,756 (GRCm39) L2363F probably damaging Het
Vmn1r34 T A 6: 66,614,123 (GRCm39) H205L probably damaging Het
Vps50 C A 6: 3,516,694 (GRCm39) Q59K probably benign Het
Zeb2 T A 2: 44,913,074 (GRCm39) D39V probably damaging Het
Zfp146 G A 7: 29,861,847 (GRCm39) T65I probably benign Het
Zfp36 T C 7: 28,077,116 (GRCm39) D264G 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
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
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'- GGAGGTCCCAGTTTTCGGAG -3'
(R):5'- CTGCAGGCAAGGAGGTTCAG -3'

Sequencing Primer
(F):5'- AGTTTTCGGAGCAGCCC -3'
(R):5'- TTCAGGCTAAGAATGATGGGC -3'
Posted On 2015-07-06