Incidental Mutation 'R7765:Gcnt1'
ID 598216
Institutional Source Beutler Lab
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
MMRRC Submission 045821-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7765 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 17303505-17350208 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 17306723 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 334 (G334D)
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 damaging
Transcript: ENSMUST00000169897
AA Change: G334D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000127835
Gene: ENSMUSG00000038843
AA Change: G334D

DomainStartEndE-ValueType
transmembrane domain 17 34 N/A INTRINSIC
Pfam:Branch 123 392 9.3e-66 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000174236
AA Change: G334D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133935
Gene: ENSMUSG00000038843
AA Change: G334D

DomainStartEndE-ValueType
signal peptide 1 36 N/A INTRINSIC
Pfam:Branch 127 396 5.7e-65 PFAM
Meta Mutation Damage Score 0.7532 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (62/62)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam2 T C 14: 66,297,345 (GRCm39) E187G probably damaging Het
Adam28 C T 14: 68,846,555 (GRCm39) probably null Het
Ap2a1 G A 7: 44,559,160 (GRCm39) T189M probably damaging Het
Apaf1 A G 10: 90,859,644 (GRCm39) Y845H probably benign Het
Asb14 G T 14: 26,619,718 (GRCm39) V55F probably benign Het
Brap A T 5: 121,800,192 (GRCm39) D71V probably damaging Het
Ccdc93 T G 1: 121,427,042 (GRCm39) F610V probably damaging Het
Cfap46 T G 7: 139,231,480 (GRCm39) D911A Het
Chn2 T C 6: 54,275,137 (GRCm39) probably null Het
Cib3 A G 8: 72,958,269 (GRCm39) F156S probably damaging Het
Csnk2a1-ps3 G A 1: 156,352,354 (GRCm39) G185D possibly damaging Het
Ctif A T 18: 75,738,715 (GRCm39) V164D probably damaging Het
Ddx27 T A 2: 166,869,879 (GRCm39) F405I probably damaging Het
Dnttip2 A G 3: 122,069,594 (GRCm39) T270A probably benign Het
Dst T A 1: 34,314,775 (GRCm39) S4455T probably damaging Het
Efcab8 A G 2: 153,685,110 (GRCm39) K47R Het
Efhd2 T C 4: 141,601,886 (GRCm39) E98G probably damaging Het
Fcmr T A 1: 130,802,025 (GRCm39) L93Q probably damaging Het
Fhdc1 T A 3: 84,351,906 (GRCm39) E1106D probably benign Het
Hltf T C 3: 20,145,647 (GRCm39) F488L probably benign Het
Hmgxb4 C A 8: 75,727,436 (GRCm39) H140N probably damaging Het
Ifi214 A T 1: 173,352,402 (GRCm39) F342L probably damaging Het
Ip6k1 A G 9: 107,909,288 (GRCm39) D105G possibly damaging Het
Kank1 GCGAACG GCG 19: 25,388,569 (GRCm39) probably null Het
Kif18a G A 2: 109,137,285 (GRCm39) D506N probably benign Het
Klf17 T A 4: 117,617,812 (GRCm39) M182L probably benign Het
Kmt2d A G 15: 98,750,215 (GRCm39) F2493L unknown Het
Lefty1 A G 1: 180,764,112 (GRCm39) E84G probably damaging Het
Lyst T G 13: 13,884,117 (GRCm39) L2975R possibly damaging Het
Magea5 G A X: 153,837,174 (GRCm39) P73S possibly damaging Het
Mctp2 T C 7: 71,740,079 (GRCm39) probably null Het
Mprip C T 11: 59,649,047 (GRCm39) T917M possibly damaging Het
Myh8 T A 11: 67,194,481 (GRCm39) I1564N probably benign Het
Npc1 A T 18: 12,328,105 (GRCm39) M1068K probably benign Het
Nr2e1 A G 10: 42,450,433 (GRCm39) C60R probably benign Het
Nrxn3 A G 12: 89,780,254 (GRCm39) I29V probably benign Het
Ntsr1 T A 2: 180,180,610 (GRCm39) H305Q probably damaging Het
Or2y1e A G 11: 49,218,571 (GRCm39) E111G probably damaging Het
Or8g35 A G 9: 39,381,612 (GRCm39) S137P probably benign Het
Or8h10 T A 2: 86,808,538 (GRCm39) I201F probably damaging Het
Pate2 A C 9: 35,581,197 (GRCm39) E22D probably benign Het
Pcdhb22 A G 18: 37,652,158 (GRCm39) T209A probably damaging Het
Pdss2 C T 10: 43,340,628 (GRCm39) S352F probably benign Het
Pfn3 T A 13: 55,562,900 (GRCm39) D27V probably damaging Het
Pigg T G 5: 108,461,920 (GRCm39) S84A probably benign Het
Prm3 CTCTTCTTCTTCTTC CTCTTCTTCTTC 16: 10,608,565 (GRCm39) probably benign Het
Prss22 C T 17: 24,213,592 (GRCm39) G233E probably damaging Het
Rad51b T C 12: 79,850,044 (GRCm39) probably null Het
Scn10a A G 9: 119,438,970 (GRCm39) V1632A possibly damaging Het
Serpinb3d T G 1: 107,007,512 (GRCm39) D158A probably damaging Het
Sh3yl1 T C 12: 31,008,868 (GRCm39) L266P probably damaging Het
Sidt2 A T 9: 45,852,873 (GRCm39) probably null Het
Stox1 C T 10: 62,501,778 (GRCm39) V261M probably benign Het
Taf7l2 T A 10: 115,949,158 (GRCm39) K123* probably null Het
Tll1 A G 8: 64,504,483 (GRCm39) Y638H probably damaging Het
Tst A T 15: 78,289,816 (GRCm39) M73K possibly damaging Het
Tuba4a C T 1: 75,193,003 (GRCm39) V232M probably benign Het
Unk T A 11: 115,943,908 (GRCm39) V343D probably benign Het
Usf3 T C 16: 44,039,426 (GRCm39) V1302A probably benign Het
Usp32 A T 11: 84,885,234 (GRCm39) L1271H probably damaging Het
Vwa5b2 C T 16: 20,413,361 (GRCm39) P192L probably benign Het
Zfp995 A G 17: 22,100,984 (GRCm39) Y38H probably damaging Het
Other mutations in Gcnt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02700:Gcnt1 APN 19 17,306,780 (GRCm39) missense probably damaging 1.00
IGL02836:Gcnt1 APN 19 17,307,493 (GRCm39) missense probably benign
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
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
Predicted Primers PCR Primer
(F):5'- CAAAGGGGTCGACATCCATG -3'
(R):5'- TGGAATAGTCAAAGCACCGCC -3'

Sequencing Primer
(F):5'- ACATCCATGTCAAACTTATTGGC -3'
(R):5'- GCCCCCACTGAAAACTCCTCTC -3'
Posted On 2019-11-26