Incidental Mutation 'IGL02833:Csgalnact2'
ID361538
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Csgalnact2
Ensembl Gene ENSMUSG00000042042
Gene Namechondroitin sulfate N-acetylgalactosaminyltransferase 2
Synonyms4632415D10Rik, Galnact2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.199) question?
Stock #IGL02833
Quality Score
Status
Chromosome6
Chromosomal Location118107452-118139140 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 118129268 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 30 (Y30H)
Ref Sequence ENSEMBL: ENSMUSP00000039819 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049344] [ENSMUST00000136265]
Predicted Effect probably damaging
Transcript: ENSMUST00000049344
AA Change: Y30H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000039819
Gene: ENSMUSG00000042042
AA Change: Y30H

DomainStartEndE-ValueType
transmembrane domain 13 32 N/A INTRINSIC
Pfam:CHGN 53 516 3e-83 PFAM
Pfam:Glyco_tranf_2_2 273 477 4.1e-8 PFAM
Pfam:Glyco_transf_7C 413 489 1.2e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125531
Predicted Effect probably benign
Transcript: ENSMUST00000136265
SMART Domains Protein: ENSMUSP00000116371
Gene: ENSMUSG00000042042

DomainStartEndE-ValueType
Pfam:CHGN 2 223 5.8e-45 PFAM
Pfam:Glyco_tranf_2_2 31 223 6.5e-9 PFAM
Pfam:Glyco_transf_7C 170 223 1.2e-9 PFAM
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. The encoded protein is involved in elongation during chondroitin sulfate synthesis. Alternative splicing of this gene results in multiple transcript variants. Two related pseudogenes have been identified on chromosome X. [provided by RefSeq, Feb 2016]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833423E24Rik G T 2: 85,502,207 R158S possibly damaging Het
Ache A G 5: 137,291,109 probably benign Het
Atr A T 9: 95,862,852 H74L probably damaging Het
Brca2 A T 5: 150,541,790 H1673L possibly damaging Het
Brwd1 A T 16: 96,052,571 I495K probably damaging Het
Cacna1s A T 1: 136,071,005 I213F probably benign Het
Cds1 T C 5: 101,814,466 S316P possibly damaging Het
Ces1b G A 8: 93,079,410 P68S probably damaging Het
Cilp A G 9: 65,277,924 I434V probably benign Het
D430042O09Rik A T 7: 125,850,412 R883* probably null Het
Defb7 T C 8: 19,495,124 V6A probably benign Het
Dlg2 A T 7: 92,431,127 L841F probably damaging Het
Dnajc14 A G 10: 128,806,599 N130S possibly damaging Het
Dock7 T A 4: 98,945,495 D1863V probably damaging Het
Dsp A G 13: 38,192,921 R1561G possibly damaging Het
Gstt4 G T 10: 75,822,340 F28L probably damaging Het
Hectd1 G T 12: 51,764,081 D1690E probably damaging Het
Hspb11 T C 4: 107,275,295 probably benign Het
Hspg2 T C 4: 137,555,130 S3394P probably benign Het
Igf2r A T 17: 12,692,723 C1910S probably damaging Het
Jakmip2 T C 18: 43,575,451 probably benign Het
Kif1b C T 4: 149,246,364 V612M probably damaging Het
Lrrd1 A G 5: 3,850,709 E338G probably damaging Het
Mmp9 C A 2: 164,949,803 D205E probably damaging Het
Mylk A T 16: 34,914,900 H750L probably benign Het
Naip6 A G 13: 100,299,613 S801P probably damaging Het
Nlrp1b A T 11: 71,161,172 M980K probably benign Het
Olfr1173 C A 2: 88,274,432 V206F probably benign Het
Olfr125 G A 17: 37,835,940 V314I probably benign Het
Olfr131 T C 17: 38,082,352 K209E possibly damaging Het
Olfr794 A G 10: 129,570,750 T32A probably benign Het
Pdk1 A G 2: 71,897,645 probably null Het
Pex7 A G 10: 19,894,754 S125P probably damaging Het
Pigu T C 2: 155,345,645 probably benign Het
Prr16 T A 18: 51,303,092 H214Q probably damaging Het
Psme4 C T 11: 30,850,715 probably benign Het
Sf3b3 A G 8: 110,811,977 probably null Het
Sp4 T C 12: 118,261,881 I583V probably benign Het
Spata22 A G 11: 73,343,743 T224A probably benign Het
Stxbp2 A T 8: 3,641,971 I538F probably benign Het
Tmem119 T A 5: 113,795,371 Y123F probably damaging Het
Umps A T 16: 33,962,153 L133* probably null Het
Usp46 T A 5: 74,016,682 T179S probably benign Het
Vtcn1 T A 3: 100,888,385 Y223N probably damaging Het
Wiz A G 17: 32,357,879 M567T probably damaging Het
Other mutations in Csgalnact2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00778:Csgalnact2 APN 6 118126272 start codon destroyed probably null 0.88
IGL00955:Csgalnact2 APN 6 118129264 missense probably damaging 1.00
IGL01396:Csgalnact2 APN 6 118126327 missense probably damaging 1.00
IGL01757:Csgalnact2 APN 6 118129346 missense probably damaging 1.00
IGL02687:Csgalnact2 APN 6 118124415 critical splice acceptor site probably null
IGL02837:Csgalnact2 UTSW 6 118124403 missense probably benign 0.10
R0206:Csgalnact2 UTSW 6 118114386 missense probably benign 0.13
R0761:Csgalnact2 UTSW 6 118126112 splice site probably benign
R1201:Csgalnact2 UTSW 6 118114432 missense probably damaging 0.98
R2106:Csgalnact2 UTSW 6 118109129 nonsense probably null
R3773:Csgalnact2 UTSW 6 118126219 missense probably benign 0.17
R3900:Csgalnact2 UTSW 6 118121014 missense probably damaging 1.00
R5618:Csgalnact2 UTSW 6 118126316 missense probably damaging 0.99
R5682:Csgalnact2 UTSW 6 118120992 missense probably damaging 1.00
R5744:Csgalnact2 UTSW 6 118126236 missense probably damaging 1.00
R5895:Csgalnact2 UTSW 6 118129254 nonsense probably null
R7819:Csgalnact2 UTSW 6 118121089 missense possibly damaging 0.74
Posted On2015-12-18