Incidental Mutation 'IGL02977:Gcnt1'
ID406423
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gcnt1
Ensembl Gene ENSMUSG00000038843
Gene Nameglucosaminyl (N-acetyl) transferase 1, core 2
SynonymsC2 GlcNAcT, 5630400D21Rik, IGnT, beta-1, 6-N-acetylglucosaminyltransferase
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02977
Quality Score
Status
Chromosome19
Chromosomal Location17326141-17356667 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 17329374 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 329 (I329N)
Ref Sequence ENSEMBL: ENSMUSP00000133935 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000169897] [ENSMUST00000174236]
PDB Structure
X-ray crystal structure of murine leukocyte-type Core 2 b1,6-N-acetylglucosaminyltransferase (C2GnT-L) [X-RAY DIFFRACTION]
X-ray crystal structure of murine leukocyte-type Core 2 b1,6-N-acetylglucosaminyltransferase (C2GnT-L) in complex with Galb1,3GalNAc [X-RAY DIFFRACTION]
Structure and mechanisim of core 2 beta1,6-n-acetylglucosaminyltransferase: a Metal-ion independent gt-a glycosyltransferase [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000169897
AA Change: I329N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000127835
Gene: ENSMUSG00000038843
AA Change: I329N

DomainStartEndE-ValueType
transmembrane domain 17 34 N/A INTRINSIC
Pfam:Branch 123 392 9.3e-66 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174137
Predicted Effect probably damaging
Transcript: ENSMUST00000174236
AA Change: I329N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133935
Gene: ENSMUSG00000038843
AA Change: I329N

DomainStartEndE-ValueType
signal peptide 1 36 N/A INTRINSIC
Pfam:Branch 127 396 5.7e-65 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 is a member of the beta-1,6-N-acetylglucosaminyltransferase gene family. It is essential to the formation of Gal beta 1-3(GlcNAc beta 1-6)GalNAc structures and the core 2 O-glycan branch. The gene coding this enzyme was originally mapped to 9q21, but was later localized to 9q13. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this allele display a grossly normal phenotype and are fertile. There are abnormalities in white blood cell counts and in inflammatory response however. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810004N23Rik C T 8: 124,861,191 V57M probably benign Het
4933440M02Rik T A 7: 125,331,702 noncoding transcript Het
9530053A07Rik C T 7: 28,164,372 T2523M possibly damaging Het
Bmp5 A G 9: 75,893,799 T404A probably damaging Het
Cep192 T C 18: 67,852,905 V1660A probably damaging Het
Csmd2 C A 4: 128,493,276 Y2121* probably null Het
Daam1 G A 12: 71,944,172 A187T unknown Het
Dnaja4 T C 9: 54,714,510 L343P possibly damaging Het
Dym T C 18: 75,063,175 probably null Het
F5 A T 1: 164,194,021 D1355V probably damaging Het
Gm10110 T C 14: 89,897,332 noncoding transcript Het
Hdgfl2 A G 17: 56,099,319 N569S possibly damaging Het
Hivep1 T C 13: 42,155,936 S551P possibly damaging Het
Hpse2 G A 19: 42,789,122 probably benign Het
Hspe1 T C 1: 55,091,073 Y88H probably benign Het
Ifi44 A T 3: 151,739,379 M312K probably benign Het
Lrp1b T G 2: 40,730,735 D3577A probably damaging Het
Mapk13 G T 17: 28,776,348 G181V probably damaging Het
Olfr1164 T C 2: 88,093,571 I122V probably benign Het
Olfr464 A G 11: 87,914,130 S259P possibly damaging Het
Oprl1 G T 2: 181,718,511 C115F probably damaging Het
Psg22 A G 7: 18,719,599 D112G probably benign Het
Rp1l1 T A 14: 64,028,150 I395N probably benign Het
Simc1 T C 13: 54,526,307 S823P probably benign Het
Slc9b1 T C 3: 135,397,723 L538P probably damaging Het
Smad2 T A 18: 76,289,164 Y216N possibly damaging Het
Stxbp2 A T 8: 3,641,971 I538F probably benign Het
Tonsl T A 15: 76,632,873 Q882L probably benign Het
Trav13-2 C T 14: 53,635,307 T80I probably damaging Het
Uaca C T 9: 60,866,380 P388S probably benign Het
Vmn2r116 A G 17: 23,388,774 R439G possibly damaging Het
Vmn2r18 C A 5: 151,586,684 A75S probably damaging Het
Other mutations in Gcnt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02700:Gcnt1 APN 19 17329416 missense probably damaging 1.00
IGL02836:Gcnt1 APN 19 17330129 missense probably benign
IGL03302:Gcnt1 APN 19 17329183 missense probably benign 0.25
magenta UTSW 19 17329404 missense probably damaging 1.00
R0183:Gcnt1 UTSW 19 17329117 missense probably benign 0.23
R0440:Gcnt1 UTSW 19 17330316 missense probably benign 0.00
R1159:Gcnt1 UTSW 19 17329804 missense possibly damaging 0.90
R1523:Gcnt1 UTSW 19 17329833 missense probably damaging 1.00
R2240:Gcnt1 UTSW 19 17329331 missense possibly damaging 0.91
R4510:Gcnt1 UTSW 19 17330277 missense probably benign 0.00
R4511:Gcnt1 UTSW 19 17330277 missense probably benign 0.00
R5689:Gcnt1 UTSW 19 17329404 missense probably damaging 1.00
Posted On2016-08-02