Incidental Mutation 'R2964:Chsy1'
ID 255973
Institutional Source Beutler Lab
Gene Symbol Chsy1
Ensembl Gene ENSMUSG00000032640
Gene Name chondroitin sulfate synthase 1
Synonyms skt
MMRRC Submission 040520-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2964 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 65759263-65823546 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 65821912 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Arginine at position 716 (G716R)
Ref Sequence ENSEMBL: ENSMUSP00000047487 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036372]
AlphaFold Q6ZQ11
Predicted Effect probably damaging
Transcript: ENSMUST00000036372
AA Change: G716R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000047487
Gene: ENSMUSG00000032640
AA Change: G716R

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:Fringe 81 307 3.8e-21 PFAM
Pfam:CHGN 237 776 9.8e-197 PFAM
Pfam:Glyco_tranf_2_2 548 751 1.2e-10 PFAM
Pfam:Glyco_transf_7C 674 747 2.5e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181911
Meta Mutation Damage Score 0.7900 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency 100% (43/43)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the chondroitin N-acetylgalactosaminyltransferase family. These enzymes possess dual glucuronyltransferase and galactosaminyltransferase activity and play critical roles in the biosynthesis of chondroitin sulfate, a glycosaminoglycan involved in many biological processes including cell proliferation and morphogenesis. Decreased expression of this gene may play a role in colorectal cancer, and mutations in this gene are a cause of temtamy preaxial brachydactyly syndrome. [provided by RefSeq, Dec 2011]
PHENOTYPE: Homozygous mice are viable, but display chondrodysplasia, brachydactyly and decreased bone density. Retinal degeneration, impaired motor strength, and hematological abnormalities are also seen. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610021A01Rik C T 7: 41,275,829 (GRCm39) R511* probably null Het
Acox3 T C 5: 35,762,611 (GRCm39) I495T possibly damaging Het
Acsl3 A G 1: 78,672,011 (GRCm39) S302G probably benign Het
Ap1s1 T C 5: 137,066,357 (GRCm39) D148G probably damaging Het
Asprv1 T A 6: 86,605,348 (GRCm39) C65S probably damaging Het
Cdkal1 A G 13: 29,628,018 (GRCm39) S39P unknown Het
Chrna2 T C 14: 66,386,817 (GRCm39) V321A possibly damaging Het
Col13a1 G A 10: 61,797,110 (GRCm39) R106W probably damaging Het
Cul9 A G 17: 46,813,154 (GRCm39) V2355A probably damaging Het
Cwh43 T C 5: 73,565,679 (GRCm39) probably benign Het
Dbi C T 1: 120,047,846 (GRCm39) probably benign Het
Dync1h1 G A 12: 110,607,460 (GRCm39) probably null Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fbxw21 A G 9: 108,974,578 (GRCm39) I314T probably benign Het
Fstl3 T C 10: 79,617,057 (GRCm39) V200A probably benign Het
Gpr45 G A 1: 43,071,668 (GRCm39) D104N possibly damaging Het
Gsdma2 T C 11: 98,548,085 (GRCm39) S184P probably damaging Het
Gtf2ird1 T C 5: 134,386,538 (GRCm39) probably null Het
H2-T22 A G 17: 36,351,537 (GRCm39) L231S probably damaging Het
Hrh4 T C 18: 13,155,426 (GRCm39) C322R probably benign Het
Ing1 T A 8: 11,611,641 (GRCm39) S26R probably benign Het
Kif3a A T 11: 53,469,757 (GRCm39) I123F probably damaging Het
Lrp6 T C 6: 134,444,489 (GRCm39) E1127G probably damaging Het
Ltf G T 9: 110,857,540 (GRCm39) C443F possibly damaging Het
Mdc1 A T 17: 36,164,529 (GRCm39) Q1359L possibly damaging Het
Mdga1 A T 17: 30,071,442 (GRCm39) I393N probably damaging Het
Mnd1 C A 3: 84,041,416 (GRCm39) C62F probably benign Het
Myo3a T C 2: 22,345,067 (GRCm39) V509A possibly damaging Het
Nav2 C T 7: 49,206,780 (GRCm39) T1535I probably damaging Het
Nlrp4d G T 7: 10,112,256 (GRCm39) S626* probably null Het
Nup188 T A 2: 30,215,358 (GRCm39) I732K probably damaging Het
Oprm1 T C 10: 6,738,914 (GRCm39) S14P probably damaging Het
Or1j12 T C 2: 36,342,779 (GRCm39) F61L probably damaging Het
Or1l8 G A 2: 36,817,419 (GRCm39) R236C probably benign Het
Or5b101 C T 19: 13,005,412 (GRCm39) A94T probably benign Het
Pigr G A 1: 130,769,272 (GRCm39) V28M probably damaging Het
Pnpla2 C T 7: 141,038,391 (GRCm39) L215F probably damaging Het
Pth T C 7: 112,985,136 (GRCm39) H79R probably benign Het
Rasal1 T A 5: 120,809,685 (GRCm39) L530Q probably damaging Het
Sdccag8 A T 1: 176,775,937 (GRCm39) K616M possibly damaging Het
Slc4a5 C T 6: 83,273,651 (GRCm39) T997I probably damaging Het
Sp110 A C 1: 85,505,050 (GRCm39) F434C probably benign Het
Trav7d-4 C T 14: 53,007,584 (GRCm39) Q26* probably null Het
Zcchc8 A G 5: 123,858,930 (GRCm39) S22P probably benign Het
Other mutations in Chsy1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01087:Chsy1 APN 7 65,821,874 (GRCm39) missense possibly damaging 0.70
IGL01734:Chsy1 APN 7 65,821,058 (GRCm39) missense probably damaging 0.98
IGL02037:Chsy1 APN 7 65,821,576 (GRCm39) missense possibly damaging 0.69
IGL02797:Chsy1 APN 7 65,821,412 (GRCm39) missense probably damaging 1.00
IGL02961:Chsy1 APN 7 65,821,530 (GRCm39) missense probably benign 0.00
IGL03290:Chsy1 APN 7 65,820,779 (GRCm39) missense probably benign 0.15
IGL03292:Chsy1 APN 7 65,775,120 (GRCm39) missense probably benign 0.02
Chrysanthemum UTSW 7 65,759,977 (GRCm39) critical splice donor site probably null
coesite UTSW 7 65,775,211 (GRCm39) missense probably damaging 1.00
deprimido UTSW 7 65,821,435 (GRCm39) missense probably damaging 1.00
Elevado UTSW 7 65,759,824 (GRCm39) nonsense probably null
R0669:Chsy1 UTSW 7 65,821,435 (GRCm39) missense probably damaging 1.00
R1336:Chsy1 UTSW 7 65,774,987 (GRCm39) splice site probably null
R1499:Chsy1 UTSW 7 65,821,750 (GRCm39) missense probably damaging 1.00
R1640:Chsy1 UTSW 7 65,821,262 (GRCm39) missense probably benign 0.34
R1674:Chsy1 UTSW 7 65,821,411 (GRCm39) missense probably damaging 1.00
R1812:Chsy1 UTSW 7 65,821,565 (GRCm39) missense probably benign 0.12
R1934:Chsy1 UTSW 7 65,821,991 (GRCm39) missense probably damaging 1.00
R2965:Chsy1 UTSW 7 65,821,912 (GRCm39) missense probably damaging 1.00
R2966:Chsy1 UTSW 7 65,821,912 (GRCm39) missense probably damaging 1.00
R3692:Chsy1 UTSW 7 65,821,001 (GRCm39) missense probably damaging 1.00
R4890:Chsy1 UTSW 7 65,759,974 (GRCm39) missense probably benign 0.00
R5373:Chsy1 UTSW 7 65,759,824 (GRCm39) nonsense probably null
R5936:Chsy1 UTSW 7 65,822,025 (GRCm39) missense possibly damaging 0.89
R6149:Chsy1 UTSW 7 65,775,133 (GRCm39) missense probably damaging 1.00
R6192:Chsy1 UTSW 7 65,820,625 (GRCm39) missense probably benign 0.29
R6653:Chsy1 UTSW 7 65,759,941 (GRCm39) missense probably benign 0.10
R6848:Chsy1 UTSW 7 65,820,785 (GRCm39) missense probably damaging 1.00
R7318:Chsy1 UTSW 7 65,759,977 (GRCm39) critical splice donor site probably null
R7514:Chsy1 UTSW 7 65,821,868 (GRCm39) missense probably damaging 1.00
R7560:Chsy1 UTSW 7 65,821,319 (GRCm39) missense probably damaging 1.00
R7560:Chsy1 UTSW 7 65,820,992 (GRCm39) missense possibly damaging 0.85
R7655:Chsy1 UTSW 7 65,820,778 (GRCm39) missense probably damaging 0.98
R7656:Chsy1 UTSW 7 65,820,778 (GRCm39) missense probably damaging 0.98
R8410:Chsy1 UTSW 7 65,775,211 (GRCm39) missense probably damaging 1.00
R8478:Chsy1 UTSW 7 65,820,748 (GRCm39) missense probably benign
R8720:Chsy1 UTSW 7 65,821,088 (GRCm39) missense possibly damaging 0.67
R9368:Chsy1 UTSW 7 65,821,499 (GRCm39) missense probably damaging 0.99
R9457:Chsy1 UTSW 7 65,822,148 (GRCm39) missense probably benign
X0012:Chsy1 UTSW 7 65,821,916 (GRCm39) missense probably damaging 1.00
X0063:Chsy1 UTSW 7 65,821,672 (GRCm39) missense probably benign 0.05
Z1176:Chsy1 UTSW 7 65,821,974 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGGGCAGCAGATCTATTTCC -3'
(R):5'- TTCTAGCCACATTTCGGCCAG -3'

Sequencing Primer
(F):5'- GGGCAGCAGATCTATTTCCCAATC -3'
(R):5'- ATTTCGGCCAGCTGCTGC -3'
Posted On 2014-12-29