Incidental Mutation 'R1653:Gcnt3'
ID 188864
Institutional Source Beutler Lab
Gene Symbol Gcnt3
Ensembl Gene ENSMUSG00000032226
Gene Name glucosaminyl (N-acetyl) transferase 3, mucin type
Synonyms 2010013H22Rik, 2210401J11Rik, 2210021I22Rik
MMRRC Submission 039689-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1653 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 69938778-69945370 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 69942359 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 70 (C70R)
Ref Sequence ENSEMBL: ENSMUSP00000034751 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034751]
AlphaFold Q5JCT0
Predicted Effect probably damaging
Transcript: ENSMUST00000034751
AA Change: C70R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034751
Gene: ENSMUSG00000032226
AA Change: C70R

DomainStartEndE-ValueType
transmembrane domain 13 30 N/A INTRINSIC
Pfam:Branch 133 401 2.1e-63 PFAM
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.7%
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 N-acetylglucosaminyltransferase family. The encoded protein is a beta-6-N-acetylglucosamine-transferase that catalyzes the formation of core 2 and core 4 O-glycans on mucin-type glycoproteins.[provided by RefSeq, Apr 2009]
PHENOTYPE: Homozygote null mice have decreases in core 2 O-glycan structures on cell surfaces, decreased immunoglobulin levels, and disrupted mucosal barrier in the intestines. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34 A T 8: 44,103,682 (GRCm39) C654* probably null Het
Adamts19 T A 18: 59,023,365 (GRCm39) N253K probably benign Het
Adgrb3 A G 1: 25,140,584 (GRCm39) L1162S probably benign Het
Ap2b1 T A 11: 83,237,657 (GRCm39) Y574N probably damaging Het
Atrn A G 2: 130,777,544 (GRCm39) I198V probably benign Het
Bcan T A 3: 87,901,503 (GRCm39) I400F probably damaging Het
Capn10 A G 1: 92,874,620 (GRCm39) Y617C probably damaging Het
Capn8 A G 1: 182,451,516 (GRCm39) N578D probably benign Het
Casd1 T C 6: 4,624,134 (GRCm39) L309P probably benign Het
Ccser1 T A 6: 61,288,449 (GRCm39) I204K probably benign Het
Cd276 T C 9: 58,444,732 (GRCm39) T80A probably benign Het
Cdh3 T C 8: 107,265,700 (GRCm39) S248P probably damaging Het
Celsr2 T C 3: 108,320,836 (GRCm39) T659A possibly damaging Het
Col6a4 C T 9: 105,949,608 (GRCm39) V676I probably damaging Het
Crmp1 T A 5: 37,443,812 (GRCm39) V575D probably damaging Het
Ep400 G A 5: 110,841,040 (GRCm39) Q1795* probably null Het
Gm12258 T C 11: 58,749,113 (GRCm39) I96T possibly damaging Het
Gpr183 A G 14: 122,191,675 (GRCm39) F282S probably damaging Het
Igfals T C 17: 25,100,052 (GRCm39) V381A probably benign Het
Irs3 C A 5: 137,642,783 (GRCm39) L218F probably damaging Het
Kdm5b T C 1: 134,530,219 (GRCm39) F410S probably damaging Het
Klc4 T C 17: 46,942,785 (GRCm39) Y593C possibly damaging Het
Lce1h T A 3: 92,670,750 (GRCm39) Q134L unknown Het
Lyst T C 13: 13,809,811 (GRCm39) S494P probably damaging Het
Marchf3 A G 18: 56,944,967 (GRCm39) M42T probably benign Het
Myh7 A G 14: 55,228,246 (GRCm39) I250T probably benign Het
N4bp1 G T 8: 87,571,576 (GRCm39) H807Q probably benign Het
Ndn C T 7: 61,998,256 (GRCm39) P34L probably benign Het
Nfs1 C T 2: 155,967,256 (GRCm39) G44D probably damaging Het
Nrg1 C T 8: 32,308,681 (GRCm39) R445H probably damaging Het
Or14c43 T C 7: 86,115,420 (GRCm39) V267A probably benign Het
Or4e5 A T 14: 52,728,229 (GRCm39) F64Y probably damaging Het
Or56a5 T A 7: 104,793,077 (GRCm39) D141V possibly damaging Het
Pak5 C T 2: 135,958,807 (GRCm39) V94M probably damaging Het
Pdk1 G A 2: 71,719,339 (GRCm39) probably null Het
Sin3b G T 8: 73,468,147 (GRCm39) V290L probably benign Het
Sirt1 T C 10: 63,157,588 (GRCm39) T609A probably benign Het
Skint5 A T 4: 113,347,875 (GRCm39) S1289T unknown Het
Slc32a1 A T 2: 158,456,809 (GRCm39) H488L probably benign Het
Slc35b3 A G 13: 39,139,774 (GRCm39) S18P probably benign Het
Spaca7 T A 8: 12,636,501 (GRCm39) I109K possibly damaging Het
Tmem204 A G 17: 25,299,501 (GRCm39) L6P possibly damaging Het
Tubgcp6 G A 15: 88,991,645 (GRCm39) R651C probably damaging Het
Vps13b T A 15: 35,607,418 (GRCm39) L1117* probably null Het
Wdcp T C 12: 4,901,815 (GRCm39) L557P probably damaging Het
Wwp2 T C 8: 108,210,042 (GRCm39) F140S possibly damaging Het
Zfp429 C T 13: 67,538,043 (GRCm39) R467H possibly damaging Het
Zfp747l1 G T 7: 126,983,652 (GRCm39) H483Q possibly damaging Het
Zfp839 T A 12: 110,821,684 (GRCm39) M166K probably benign Het
Zfyve9 G A 4: 108,517,774 (GRCm39) Q1106* probably null Het
Zrsr2-ps1 T A 11: 22,924,158 (GRCm39) C311S probably damaging Het
Other mutations in Gcnt3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01415:Gcnt3 APN 9 69,941,739 (GRCm39) missense probably benign 0.20
IGL02617:Gcnt3 APN 9 69,941,444 (GRCm39) missense probably damaging 1.00
IGL02965:Gcnt3 APN 9 69,942,235 (GRCm39) missense probably benign 0.00
IGL03113:Gcnt3 APN 9 69,941,983 (GRCm39) missense probably damaging 1.00
IGL03374:Gcnt3 APN 9 69,941,695 (GRCm39) missense possibly damaging 0.89
PIT4131001:Gcnt3 UTSW 9 69,941,326 (GRCm39) missense possibly damaging 0.80
R0012:Gcnt3 UTSW 9 69,941,367 (GRCm39) missense probably benign 0.04
R0012:Gcnt3 UTSW 9 69,941,367 (GRCm39) missense probably benign 0.04
R1241:Gcnt3 UTSW 9 69,941,615 (GRCm39) missense probably benign 0.01
R1662:Gcnt3 UTSW 9 69,941,659 (GRCm39) missense probably benign 0.00
R2213:Gcnt3 UTSW 9 69,941,989 (GRCm39) missense probably benign 0.16
R4588:Gcnt3 UTSW 9 69,941,512 (GRCm39) missense probably damaging 1.00
R4927:Gcnt3 UTSW 9 69,942,464 (GRCm39) missense probably damaging 1.00
R5407:Gcnt3 UTSW 9 69,941,471 (GRCm39) missense probably benign 0.00
R5718:Gcnt3 UTSW 9 69,941,552 (GRCm39) missense probably benign 0.00
R6974:Gcnt3 UTSW 9 69,942,169 (GRCm39) missense probably damaging 1.00
R7883:Gcnt3 UTSW 9 69,941,453 (GRCm39) missense probably damaging 0.97
R8215:Gcnt3 UTSW 9 69,941,455 (GRCm39) missense probably damaging 1.00
R8483:Gcnt3 UTSW 9 69,941,959 (GRCm39) missense probably damaging 1.00
R8558:Gcnt3 UTSW 9 69,941,996 (GRCm39) nonsense probably null
R8735:Gcnt3 UTSW 9 69,941,728 (GRCm39) missense probably benign 0.01
R9156:Gcnt3 UTSW 9 69,941,939 (GRCm39) missense probably damaging 1.00
R9269:Gcnt3 UTSW 9 69,941,290 (GRCm39) missense probably damaging 1.00
R9287:Gcnt3 UTSW 9 69,941,693 (GRCm39) missense probably damaging 1.00
R9302:Gcnt3 UTSW 9 69,942,529 (GRCm39) missense possibly damaging 0.85
R9524:Gcnt3 UTSW 9 69,941,569 (GRCm39) missense probably damaging 1.00
R9568:Gcnt3 UTSW 9 69,942,346 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TACACAGCTCGCAGCAACCTTTCG -3'
(R):5'- TTCTGTTCAGAGAACCCACTGCCC -3'

Sequencing Primer
(F):5'- GGAAGCTGGCCTCTTCCTTG -3'
(R):5'- CGCCTGTGAAGATGACTTCC -3'
Posted On 2014-05-09