Incidental Mutation 'IGL03374:Gcnt3'
ID 420410
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gcnt3
Ensembl Gene ENSMUSG00000032226
Gene Name glucosaminyl (N-acetyl) transferase 3, mucin type
Synonyms 2010013H22Rik, 2210401J11Rik, 2210021I22Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03374
Quality Score
Status
Chromosome 9
Chromosomal Location 69938778-69945370 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 69941695 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 291 (M291K)
Ref Sequence ENSEMBL: ENSMUSP00000034751 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034751]
AlphaFold Q5JCT0
Predicted Effect possibly damaging
Transcript: ENSMUST00000034751
AA Change: M291K

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000034751
Gene: ENSMUSG00000032226
AA Change: M291K

DomainStartEndE-ValueType
transmembrane domain 13 30 N/A INTRINSIC
Pfam:Branch 133 401 2.1e-63 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 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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aox3 G A 1: 58,211,007 (GRCm39) R917Q probably damaging Het
Atl1 T C 12: 70,002,141 (GRCm39) Y367H probably damaging Het
AW551984 T C 9: 39,511,062 (GRCm39) E175G possibly damaging Het
Cacna2d1 T A 5: 16,561,821 (GRCm39) D800E probably damaging Het
Cdon T A 9: 35,389,299 (GRCm39) F801L possibly damaging Het
Dcaf13 C T 15: 39,008,543 (GRCm39) Q382* probably null Het
Dpy19l3 T C 7: 35,411,633 (GRCm39) N367S possibly damaging Het
F11 A G 8: 45,714,111 (GRCm39) S3P possibly damaging Het
Fhip1b T C 7: 105,033,158 (GRCm39) E57G probably damaging Het
Fryl A T 5: 73,267,624 (GRCm39) probably benign Het
Glg1 T C 8: 111,889,412 (GRCm39) D927G probably damaging Het
Gm5862 C A 5: 26,224,510 (GRCm39) R153L probably damaging Het
Gucy2c T C 6: 136,742,628 (GRCm39) T237A probably benign Het
Helz A T 11: 107,510,973 (GRCm39) I610F probably damaging Het
Hpd T C 5: 123,310,108 (GRCm39) E372G probably damaging Het
Hsd17b13 A G 5: 104,124,964 (GRCm39) probably benign Het
Klhl32 G A 4: 24,649,533 (GRCm39) probably benign Het
Krt74 T A 15: 101,668,937 (GRCm39) noncoding transcript Het
Nopchap1 G A 10: 83,201,571 (GRCm39) V115M probably damaging Het
Or14a258 T A 7: 86,035,574 (GRCm39) Q98L probably damaging Het
Or9g4b T C 2: 85,616,053 (GRCm39) L66P probably damaging Het
Phyhipl A G 10: 70,401,109 (GRCm39) V163A possibly damaging Het
Pknox2 T A 9: 36,834,966 (GRCm39) T168S probably damaging Het
Pmfbp1 T C 8: 110,269,046 (GRCm39) probably benign Het
Sgce G A 6: 4,689,718 (GRCm39) R372* probably null Het
Stard5 T C 7: 83,285,980 (GRCm39) S102P possibly damaging Het
Syne2 A G 12: 76,121,360 (GRCm39) K5941R possibly damaging Het
Tas2r124 A T 6: 132,732,081 (GRCm39) H130L probably benign Het
Ttn T C 2: 76,546,027 (GRCm39) E32462G probably damaging Het
Tut4 T C 4: 108,415,974 (GRCm39) S1647P probably damaging Het
Ube2d3 A G 3: 135,165,844 (GRCm39) probably null Het
Vps13d G T 4: 144,835,145 (GRCm39) H1561Q possibly 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
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
R1653:Gcnt3 UTSW 9 69,942,359 (GRCm39) missense probably damaging 1.00
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
Posted On 2016-08-02