Incidental Mutation 'IGL01734:Chsy1'
ID105617
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Chsy1
Ensembl Gene ENSMUSG00000032640
Gene Namechondroitin sulfate synthase 1
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01734
Quality Score
Status
Chromosome7
Chromosomal Location66109515-66173798 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 66171310 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 431 (I431T)
Ref Sequence ENSEMBL: ENSMUSP00000047487 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036372]
Predicted Effect probably damaging
Transcript: ENSMUST00000036372
AA Change: I431T

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000047487
Gene: ENSMUSG00000032640
AA Change: I431T

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
Coding Region Coverage
Validation Efficiency
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932442E05Rik T A 10: 118,861,466 W210R possibly damaging Het
Aknad1 T C 3: 108,751,901 M77T probably benign Het
Aox2 A T 1: 58,354,310 I1210F possibly damaging Het
Brd8 A T 18: 34,614,805 probably benign Het
Cdh23 T C 10: 60,303,513 D3307G probably benign Het
Cobl A G 11: 12,254,980 probably benign Het
Col28a1 T C 6: 8,158,134 D308G probably damaging Het
Csmd3 A G 15: 48,185,304 Y568H probably damaging Het
Dmrt3 T C 19: 25,622,583 I264T probably damaging Het
Dusp22 G T 13: 30,696,252 C52F probably damaging Het
Fbxw22 A C 9: 109,383,925 M318R probably damaging Het
Ffar4 C T 19: 38,113,847 T310M probably damaging Het
Fn1 A G 1: 71,619,485 V1138A probably damaging Het
Glt6d1 T A 2: 25,794,493 Y167F probably benign Het
Hydin T A 8: 110,490,789 Y1436* probably null Het
Il12a G A 3: 68,691,555 C2Y possibly damaging Het
Inpp5a T C 7: 139,454,090 Y38H possibly damaging Het
Jmy A C 13: 93,459,651 L490R probably damaging Het
Kif26a T A 12: 112,176,828 L1172H probably benign Het
Kmo A T 1: 175,655,102 M331L probably benign Het
Lonp1 G A 17: 56,616,026 T627M probably damaging Het
Lrrc41 T C 4: 116,093,134 probably null Het
Mast4 A T 13: 102,737,615 S1556R probably damaging Het
Mmel1 A G 4: 154,891,951 N490S probably benign Het
Mpped2 A G 2: 106,783,813 D164G probably damaging Het
Nap1l1 A G 10: 111,492,899 T230A probably benign Het
Nrap C A 19: 56,350,309 A913S probably damaging Het
Nudt16 G T 9: 105,131,508 Q65K probably benign Het
Olfr1039 T A 2: 86,131,668 probably benign Het
Olfr199 T G 16: 59,216,429 L61F probably benign Het
Olfr201 T A 16: 59,268,850 K272N probably benign Het
Olfr382 C A 11: 73,516,636 A188S probably benign Het
Olfr813 T A 10: 129,856,802 C95S probably benign Het
Parp14 A G 16: 35,858,600 F333L probably benign Het
Pi4ka G T 16: 17,297,260 Q1422K probably benign Het
Polr3c T C 3: 96,713,520 E494G probably damaging Het
Prss42 C A 9: 110,798,343 P49Q probably benign Het
Ptpra C T 2: 130,544,077 T568I probably damaging Het
Ring1 T C 17: 34,023,320 D71G probably damaging Het
Siae T A 9: 37,631,486 S193T probably damaging Het
Slf2 T C 19: 44,973,267 probably null Het
Spinkl T A 18: 44,174,572 K7N possibly damaging Het
Tbk1 G A 10: 121,571,983 R82* probably null Het
Tcf12 T C 9: 71,922,648 probably null Het
Tcl1b5 G A 12: 105,178,955 M59I probably benign Het
Thumpd3 C A 6: 113,066,845 T407K probably damaging Het
Timm29 T C 9: 21,593,735 V233A probably damaging Het
Tns3 A G 11: 8,519,192 probably benign Het
Ubash3b T C 9: 41,026,247 probably benign Het
Ugdh G T 5: 65,422,688 T253K probably benign Het
Zfp143 T A 7: 110,072,209 probably benign Het
Zfp738 A G 13: 67,683,444 probably benign Het
Other mutations in Chsy1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01087:Chsy1 APN 7 66172126 missense possibly damaging 0.70
IGL02037:Chsy1 APN 7 66171828 missense possibly damaging 0.69
IGL02797:Chsy1 APN 7 66171664 missense probably damaging 1.00
IGL02961:Chsy1 APN 7 66171782 missense probably benign 0.00
IGL03290:Chsy1 APN 7 66171031 missense probably benign 0.15
IGL03292:Chsy1 APN 7 66125372 missense probably benign 0.02
Chrysanthemum UTSW 7 66110229 critical splice donor site probably null
deprimido UTSW 7 66171687 missense probably damaging 1.00
Elevado UTSW 7 66110076 nonsense probably null
R0669:Chsy1 UTSW 7 66171687 missense probably damaging 1.00
R1336:Chsy1 UTSW 7 66125239 splice site probably null
R1499:Chsy1 UTSW 7 66172002 missense probably damaging 1.00
R1640:Chsy1 UTSW 7 66171514 missense probably benign 0.34
R1674:Chsy1 UTSW 7 66171663 missense probably damaging 1.00
R1812:Chsy1 UTSW 7 66171817 missense probably benign 0.12
R1934:Chsy1 UTSW 7 66172243 missense probably damaging 1.00
R2964:Chsy1 UTSW 7 66172164 missense probably damaging 1.00
R2965:Chsy1 UTSW 7 66172164 missense probably damaging 1.00
R2966:Chsy1 UTSW 7 66172164 missense probably damaging 1.00
R3692:Chsy1 UTSW 7 66171253 missense probably damaging 1.00
R4890:Chsy1 UTSW 7 66110226 missense probably benign 0.00
R5373:Chsy1 UTSW 7 66110076 nonsense probably null
R5936:Chsy1 UTSW 7 66172277 missense possibly damaging 0.89
R6149:Chsy1 UTSW 7 66125385 missense probably damaging 1.00
R6192:Chsy1 UTSW 7 66170877 missense probably benign 0.29
R6653:Chsy1 UTSW 7 66110193 missense probably benign 0.10
R6848:Chsy1 UTSW 7 66171037 missense probably damaging 1.00
R7318:Chsy1 UTSW 7 66110229 critical splice donor site probably null
R7514:Chsy1 UTSW 7 66172120 missense probably damaging 1.00
R7560:Chsy1 UTSW 7 66171244 missense possibly damaging 0.85
R7560:Chsy1 UTSW 7 66171571 missense probably damaging 1.00
R7655:Chsy1 UTSW 7 66171030 missense probably damaging 0.98
R7656:Chsy1 UTSW 7 66171030 missense probably damaging 0.98
X0012:Chsy1 UTSW 7 66172168 missense probably damaging 1.00
X0063:Chsy1 UTSW 7 66171924 missense probably benign 0.05
Z1176:Chsy1 UTSW 7 66172226 missense probably damaging 1.00
Posted On2014-01-21