Incidental Mutation 'IGL00778:Csgalnact2'
ID9910
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: 0.230) question?
Stock #IGL00778
Quality Score
Status
Chromosome6
Chromosomal Location118107452-118139140 bp(-) (GRCm38)
Type of Mutationstart codon destroyed
DNA Base Change (assembly) A to T at 118126272 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 1 (M1K)
Ref Sequence ENSEMBL: ENSMUSP00000116371 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049344] [ENSMUST00000136265]
Predicted Effect probably benign
Transcript: ENSMUST00000049344
AA Change: M243K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000039819
Gene: ENSMUSG00000042042
AA Change: M243K

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
AA Change: M1K

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000116371
Gene: ENSMUSG00000042042
AA Change: M1K

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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503E14Rik G A 14: 44,163,934 H152Y probably benign Het
Abca1 T C 4: 53,086,132 D457G probably benign Het
Atp8a1 T G 5: 67,659,903 K913N possibly damaging Het
Cd180 G A 13: 102,705,409 S321N probably benign Het
Cdc14b T C 13: 64,215,656 N264D probably damaging Het
Cenpf A T 1: 189,654,912 C1724S probably benign Het
Chil4 A G 3: 106,201,797 S397P probably benign Het
Clpb C T 7: 101,778,608 R387* probably null Het
Enpp3 C A 10: 24,798,262 C380F probably damaging Het
Gtf3c1 G A 7: 125,667,374 R967W probably damaging Het
Hnrnpr T A 4: 136,339,545 D472E unknown Het
Klhl28 A T 12: 64,950,066 D500E probably damaging Het
Lmo7 C T 14: 101,910,885 probably benign Het
Mphosph8 A G 14: 56,674,443 I308V probably benign Het
Myo6 T A 9: 80,283,586 probably null Het
Nsmaf C T 4: 6,435,056 probably null Het
Padi6 T A 4: 140,727,623 I668L possibly damaging Het
Pigw A G 11: 84,877,324 I393T possibly damaging Het
Prg3 G A 2: 84,993,732 C212Y probably damaging Het
Pwp1 T C 10: 85,879,888 V267A probably benign Het
Raver2 C A 4: 101,096,271 Q79K probably benign Het
Sdr9c7 T C 10: 127,909,828 S270P probably damaging Het
Sfmbt2 A G 2: 10,402,007 E39G probably damaging Het
Strada A G 11: 106,171,150 probably benign Het
Xrn1 T C 9: 95,973,447 probably benign Het
Zic3 A G X: 58,034,419 Y424C probably damaging Het
Other mutations in Csgalnact2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 On2012-12-06