Incidental Mutation 'IGL03199:Chsy3'
ID 412931
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 # IGL03199
Quality Score
Status
Chromosome 18
Chromosomal Location 59308412-59544408 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 59309473 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Tyrosine at position 242 (F242Y)
Ref Sequence ENSEMBL: ENSMUSP00000079546 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080721]
AlphaFold Q5DTK1
Predicted Effect probably damaging
Transcript: ENSMUST00000080721
AA Change: F242Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000079546
Gene: ENSMUSG00000058152
AA Change: F242Y

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: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik T C 15: 81,946,556 (GRCm39) I151T possibly damaging Het
Alms1 T A 6: 85,599,479 (GRCm39) M1904K possibly damaging Het
Cwf19l2 G A 9: 3,477,830 (GRCm39) G845D probably damaging Het
Cyfip2 A G 11: 46,167,670 (GRCm39) I244T probably benign Het
Dnah10 A T 5: 124,894,761 (GRCm39) Q3499L probably benign Het
Fat3 A G 9: 16,288,344 (GRCm39) V393A possibly damaging Het
Fcamr T A 1: 130,740,655 (GRCm39) V358D probably damaging Het
Fndc3c1 T A X: 105,479,993 (GRCm39) K696N possibly damaging Het
Igkv2-112 G A 6: 68,197,000 (GRCm39) M12I probably benign Het
Macc1 T C 12: 119,410,156 (GRCm39) M308T probably benign Het
Map4k1 A G 7: 28,682,842 (GRCm39) E16G probably damaging Het
Myl7 C T 11: 5,848,205 (GRCm39) G50R probably damaging Het
Ncapg2 T A 12: 116,382,856 (GRCm39) L229H probably damaging Het
Or10d4b A G 9: 39,535,240 (GRCm39) I272V probably benign Het
Prkcz A G 4: 155,357,441 (GRCm39) F157L possibly damaging Het
Sult2a1 C A 7: 13,566,585 (GRCm39) G130V probably damaging Het
Trim27 G A 13: 21,375,421 (GRCm39) probably null Het
Trim43b T G 9: 88,971,481 (GRCm39) Q225P probably damaging Het
Ugt2b34 A G 5: 87,054,739 (GRCm39) L14P unknown Het
Vmn1r209 A T 13: 22,990,220 (GRCm39) S157T possibly damaging Het
Vmn2r38 A T 7: 9,078,375 (GRCm39) V669D probably damaging Het
Vps35l T C 7: 118,365,611 (GRCm39) S15P probably benign Het
Zfp422 T C 6: 116,603,912 (GRCm39) Q29R probably benign Het
Zfp623 C T 15: 75,819,119 (GRCm39) A25V 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
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 2016-08-02