Incidental Mutation 'IGL02836:Gcnt1'
ID 361666
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gcnt1
Ensembl Gene ENSMUSG00000038843
Gene Name glucosaminyl (N-acetyl) transferase 1, core 2
Synonyms C2 GlcNAcT, IGnT, 5630400D21Rik, beta-1, 6-N-acetylglucosaminyltransferase
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02836
Quality Score
Status
Chromosome 19
Chromosomal Location 17303505-17350208 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 17307493 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Methionine at position 77 (I77M)
Ref Sequence ENSEMBL: ENSMUSP00000133935 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000169897] [ENSMUST00000174236]
AlphaFold Q09324
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 benign
Transcript: ENSMUST00000169897
AA Change: I77M

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000127835
Gene: ENSMUSG00000038843
AA Change: I77M

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 benign
Transcript: ENSMUST00000174236
AA Change: I77M

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000133935
Gene: ENSMUSG00000038843
AA Change: I77M

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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4 T A 4: 144,349,782 (GRCm39) N346K possibly damaging Het
Abca15 A G 7: 119,987,439 (GRCm39) M1242V probably benign Het
Abca6 T A 11: 110,139,374 (GRCm39) E33D probably damaging Het
Abca8a T C 11: 109,961,177 (GRCm39) K582E possibly damaging Het
Abcb6 A G 1: 75,154,646 (GRCm39) L263P probably damaging Het
Adamts2 A C 11: 50,678,106 (GRCm39) E795A probably damaging Het
Avil T A 10: 126,844,864 (GRCm39) I292N probably damaging Het
Cd300ld2 T C 11: 114,904,576 (GRCm39) D97G probably benign Het
Cfh A C 1: 140,030,137 (GRCm39) I912R probably damaging Het
Cyp26c1 A T 19: 37,675,604 (GRCm39) Q156L probably benign Het
Dhx57 T C 17: 80,574,978 (GRCm39) I614V probably damaging Het
Dip2c T A 13: 9,660,826 (GRCm39) S896T probably damaging Het
Dmtn G T 14: 70,853,518 (GRCm39) P97Q probably damaging Het
Dock6 A T 9: 21,713,160 (GRCm39) V1931E probably damaging Het
Dpep2 C A 8: 106,717,227 (GRCm39) probably null Het
Dsg1c T A 18: 20,400,986 (GRCm39) L163Q probably benign Het
Esyt3 A G 9: 99,202,960 (GRCm39) probably benign Het
Fcgbp T A 7: 27,816,783 (GRCm39) I2415N possibly damaging Het
Fpr-rs6 T C 17: 20,403,307 (GRCm39) D18G probably benign Het
Fras1 T C 5: 96,682,725 (GRCm39) V74A possibly damaging Het
Frem3 T C 8: 81,341,010 (GRCm39) V1101A probably benign Het
Fut8 T A 12: 77,496,987 (GRCm39) V399E probably benign Het
Galntl5 G T 5: 25,391,237 (GRCm39) K45N probably benign Het
Gbe1 A G 16: 70,357,983 (GRCm39) Y669C possibly damaging Het
Itprid1 T A 6: 55,875,075 (GRCm39) W342R probably damaging Het
Mark2 A G 19: 7,255,405 (GRCm39) probably null Het
Muc2 A T 7: 141,300,450 (GRCm39) probably benign Het
Nacc2 C T 2: 25,980,329 (GRCm39) V36I probably damaging Het
Nphp1 T C 2: 127,611,543 (GRCm39) I268V probably benign Het
Oosp3 A G 19: 11,678,332 (GRCm39) I5V probably benign Het
Or9m1 T G 2: 87,733,724 (GRCm39) T99P possibly damaging Het
Pex7 A G 10: 19,769,990 (GRCm39) probably benign Het
Prr14l T C 5: 32,988,440 (GRCm39) K352E probably benign Het
Rheb T A 5: 25,008,709 (GRCm39) I170F probably benign Het
Rpgrip1 A G 14: 52,382,714 (GRCm39) probably null Het
Rps2 T A 17: 24,939,650 (GRCm39) L107Q probably damaging Het
Rrp1 A T 10: 78,240,874 (GRCm39) probably benign Het
Rtcb A T 10: 85,779,806 (GRCm39) V288D possibly damaging Het
Sec14l3 T C 11: 4,020,084 (GRCm39) F174L probably benign Het
Slc28a1 G A 7: 80,775,909 (GRCm39) V202M probably damaging Het
Slc44a3 A T 3: 121,325,366 (GRCm39) C32S probably damaging Het
Syne1 G A 10: 5,359,875 (GRCm39) probably benign Het
Synrg C A 11: 83,892,804 (GRCm39) probably benign Het
Tmem219 A T 7: 126,488,121 (GRCm39) F265I probably benign Het
Tmem94 T C 11: 115,683,765 (GRCm39) I726T probably damaging Het
Trim37 T C 11: 87,087,785 (GRCm39) M632T probably benign Het
Trpm6 A T 19: 18,790,846 (GRCm39) Q627L probably damaging Het
Uvrag A G 7: 98,628,984 (GRCm39) V361A possibly damaging Het
Yipf3 C A 17: 46,562,520 (GRCm39) N308K possibly damaging Het
Zfp438 A G 18: 5,245,427 (GRCm39) probably benign Het
Zmiz1 T A 14: 25,657,166 (GRCm39) probably benign Het
Zranb3 A G 1: 127,888,562 (GRCm39) V841A probably benign Het
Other mutations in Gcnt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02700:Gcnt1 APN 19 17,306,780 (GRCm39) missense probably damaging 1.00
IGL02977:Gcnt1 APN 19 17,306,738 (GRCm39) missense probably damaging 1.00
IGL03302:Gcnt1 APN 19 17,306,547 (GRCm39) missense probably benign 0.25
magenta UTSW 19 17,306,768 (GRCm39) missense probably damaging 1.00
Violet UTSW 19 17,306,723 (GRCm39) missense probably damaging 1.00
R0183:Gcnt1 UTSW 19 17,306,481 (GRCm39) missense probably benign 0.23
R0440:Gcnt1 UTSW 19 17,307,680 (GRCm39) missense probably benign 0.00
R1159:Gcnt1 UTSW 19 17,307,168 (GRCm39) missense possibly damaging 0.90
R1523:Gcnt1 UTSW 19 17,307,197 (GRCm39) missense probably damaging 1.00
R2240:Gcnt1 UTSW 19 17,306,695 (GRCm39) missense possibly damaging 0.91
R4510:Gcnt1 UTSW 19 17,307,641 (GRCm39) missense probably benign 0.00
R4511:Gcnt1 UTSW 19 17,307,641 (GRCm39) missense probably benign 0.00
R5689:Gcnt1 UTSW 19 17,306,768 (GRCm39) missense probably damaging 1.00
R7765:Gcnt1 UTSW 19 17,306,723 (GRCm39) missense probably damaging 1.00
R8669:Gcnt1 UTSW 19 17,307,143 (GRCm39) missense probably benign 0.38
R8739:Gcnt1 UTSW 19 17,307,437 (GRCm39) missense probably benign 0.00
R9082:Gcnt1 UTSW 19 17,307,559 (GRCm39) missense probably benign 0.00
R9589:Gcnt1 UTSW 19 17,307,422 (GRCm39) missense probably benign 0.02
Posted On 2015-12-18