Incidental Mutation 'IGL01472:Chsy3'
ID 88285
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Chsy3
Ensembl Gene ENSMUSG00000058152
Gene Name chondroitin sulfate synthase 3
Synonyms 4833446K15Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01472
Quality Score
Status
Chromosome 18
Chromosomal Location 59308412-59544408 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 59309439 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 231 (V231I)
Ref Sequence ENSEMBL: ENSMUSP00000079546 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080721]
AlphaFold Q5DTK1
Predicted Effect probably damaging
Transcript: ENSMUST00000080721
AA Change: V231I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000079546
Gene: ENSMUSG00000058152
AA Change: V231I

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
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm2 G A 7: 119,153,759 (GRCm39) probably null Het
Adamts4 T C 1: 171,080,419 (GRCm39) F324S probably damaging Het
Alg10b T A 15: 90,111,900 (GRCm39) L248Q possibly damaging Het
Antxr2 T A 5: 98,175,358 (GRCm39) T90S probably benign Het
Arhgap21 C T 2: 20,854,392 (GRCm39) E1657K probably damaging Het
Atp13a5 T G 16: 29,094,175 (GRCm39) D803A probably damaging Het
Bzw2 T C 12: 36,159,795 (GRCm39) D185G probably damaging Het
Camta2 A G 11: 70,574,950 (GRCm39) S62P probably damaging Het
Cep85 T C 4: 133,861,477 (GRCm39) Q599R possibly damaging Het
Cnbd2 C T 2: 156,217,268 (GRCm39) R457W probably damaging Het
Col20a1 A G 2: 180,649,625 (GRCm39) T1036A probably benign Het
Colgalt2 T C 1: 152,382,629 (GRCm39) Y494H probably damaging Het
Cox15 G T 19: 43,732,104 (GRCm39) Y237* probably null Het
Cpne9 C A 6: 113,269,983 (GRCm39) S281Y possibly damaging Het
D830013O20Rik G A 12: 73,411,090 (GRCm39) noncoding transcript Het
Dnah5 C T 15: 28,331,872 (GRCm39) R2153C probably damaging Het
Fam228a A G 12: 4,765,610 (GRCm39) I267T possibly damaging Het
Fat4 G A 3: 38,942,219 (GRCm39) A371T probably damaging Het
Gm1818 T C 12: 48,603,072 (GRCm39) noncoding transcript Het
Gm5592 T C 7: 40,935,498 (GRCm39) probably benign Het
Golga4 C A 9: 118,361,642 (GRCm39) L207I probably damaging Het
Gtf3c1 A G 7: 125,250,226 (GRCm39) probably benign Het
Hao1 C T 2: 134,396,150 (GRCm39) E35K probably benign Het
Iqch T C 9: 63,455,216 (GRCm39) I194V probably benign Het
Ism1 A T 2: 139,599,223 (GRCm39) T392S probably damaging Het
Lcmt1 A G 7: 123,027,376 (GRCm39) Y313C probably damaging Het
Loxl4 A G 19: 42,585,988 (GRCm39) C718R probably damaging Het
Lyar T G 5: 38,382,066 (GRCm39) I16R possibly damaging Het
Map3k20 T C 2: 72,185,897 (GRCm39) probably benign Het
Mtus1 T C 8: 41,455,449 (GRCm39) T941A probably benign Het
Myh8 A G 11: 67,179,205 (GRCm39) probably benign Het
Myof T C 19: 37,911,524 (GRCm39) D1482G probably benign Het
Nr4a3 C A 4: 48,071,133 (GRCm39) A534D probably damaging Het
Oas1c A G 5: 120,940,986 (GRCm39) V269A probably damaging Het
Odf2 T A 2: 29,783,071 (GRCm39) S5T probably damaging Het
Or5d36 T A 2: 87,901,322 (GRCm39) T135S possibly damaging Het
Or5p4 T C 7: 107,680,411 (GRCm39) S137P probably benign Het
Or9s27 T A 1: 92,516,694 (GRCm39) M214K possibly damaging Het
Pbk A G 14: 66,054,159 (GRCm39) T235A probably benign Het
Phrf1 T C 7: 140,836,403 (GRCm39) probably benign Het
Prkci A G 3: 31,104,341 (GRCm39) D568G probably damaging Het
Prom2 T A 2: 127,374,802 (GRCm39) Y578F probably benign Het
Prph T C 15: 98,956,474 (GRCm39) probably benign Het
Ryr3 A G 2: 112,502,593 (GRCm39) V3527A probably benign Het
Scn10a C T 9: 119,446,829 (GRCm39) V1400I probably damaging Het
Slc10a2 A G 8: 5,141,652 (GRCm39) L244P probably damaging Het
Tardbp A G 4: 148,706,521 (GRCm39) V96A probably benign Het
Tbc1d4 C A 14: 101,727,300 (GRCm39) E504* probably null Het
Tmed3 T C 9: 89,584,928 (GRCm39) E109G probably benign Het
Tnc C T 4: 63,924,656 (GRCm39) R1014H probably benign Het
Tpcn2 C T 7: 144,821,115 (GRCm39) R313Q probably damaging Het
Trim45 A G 3: 100,835,381 (GRCm39) T455A probably benign Het
Txlna A G 4: 129,525,908 (GRCm39) I313T probably damaging Het
Vmn1r202 A T 13: 22,686,159 (GRCm39) I86K possibly damaging Het
Vmn2r14 C A 5: 109,364,180 (GRCm39) E579* probably null Het
Wrn T A 8: 33,819,200 (GRCm39) I8F possibly damaging Het
Zc3h18 A G 8: 123,143,396 (GRCm39) probably benign Het
Zfyve26 A T 12: 79,323,117 (GRCm39) H876Q probably benign Het
Znrf2 C T 6: 54,840,957 (GRCm39) T177I probably damaging Het
Other mutations in Chsy3
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2013-11-18