Incidental Mutation 'IGL02687:Csgalnact2'
ID303619
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: 0.212) question?
Stock #IGL02687
Quality Score
Status
Chromosome6
Chromosomal Location118107452-118139140 bp(-) (GRCm38)
Type of Mutationcritical splice acceptor site
DNA Base Change (assembly) T to C at 118124415 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000116371 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049344] [ENSMUST00000136265]
Predicted Effect probably null
Transcript: ENSMUST00000049344
SMART Domains Protein: ENSMUSP00000039819
Gene: ENSMUSG00000042042

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 null
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 A G 11: 110,114,232 V1315A probably damaging Het
Adam2 A T 14: 66,069,190 C117S probably damaging Het
Arpp21 T A 9: 112,065,815 R792* probably null Het
Atp13a3 A G 16: 30,337,551 M938T probably damaging Het
Atp6v0a2 C T 5: 124,714,142 T545M possibly damaging Het
BC051019 T C 7: 109,716,352 D84G possibly damaging Het
Bdkrb1 T A 12: 105,604,832 L219H probably damaging Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Cfap46 T C 7: 139,607,201 D2415G probably damaging Het
Cyp4a29 T C 4: 115,251,200 C374R probably damaging Het
Dgkb C A 12: 38,630,629 P776Q possibly damaging Het
Duox1 A T 2: 122,336,415 K1005M probably damaging Het
Dusp6 C A 10: 99,266,182 F343L probably damaging Het
Espl1 C T 15: 102,313,178 probably benign Het
Filip1l T C 16: 57,571,127 S455P probably benign Het
Gm7995 A G 14: 42,311,405 I81V probably damaging Het
Lingo4 T C 3: 94,402,097 L114P probably damaging Het
Mfsd6 A G 1: 52,708,675 S344P probably damaging Het
Mpc1 G A 17: 8,297,143 S162N probably benign Het
Myh11 T A 16: 14,212,618 K1143* probably null Het
Nek10 T C 14: 14,840,570 L152P probably damaging Het
Olfr598 C T 7: 103,329,400 R305* probably null Het
Olfr815 T C 10: 129,902,102 M203V probably benign Het
Olfr995 T A 2: 85,438,586 N191Y possibly damaging Het
Rab11a A G 9: 64,726,698 I119T probably damaging Het
Spata31d1d T A 13: 59,727,864 H619L possibly damaging Het
Ulk4 A T 9: 121,192,662 V661E possibly damaging Het
Vmn1r199 T C 13: 22,382,791 V85A possibly 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
IGL02833:Csgalnact2 APN 6 118129268 missense probably damaging 1.00
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 On2015-04-16