Incidental Mutation 'IGL00950:Gcnt4'
ID 28877
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gcnt4
Ensembl Gene ENSMUSG00000091387
Gene Name glucosaminyl (N-acetyl) transferase 4, core 2 (beta-1,6-N-acetylglucosaminyltransferase)
Synonyms LOC238786, C2GNT3, Gm73, LOC218476
Accession Numbers
Essential gene? Probably non essential (E-score: 0.099) question?
Stock # IGL00950
Quality Score
Status
Chromosome 13
Chromosomal Location 97061197-97087414 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 97083064 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 120 (Y120C)
Ref Sequence ENSEMBL: ENSMUSP00000130496 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000171324]
AlphaFold E9Q649
Predicted Effect probably damaging
Transcript: ENSMUST00000171324
AA Change: Y120C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000130496
Gene: ENSMUSG00000091387
AA Change: Y120C

DomainStartEndE-ValueType
transmembrane domain 17 39 N/A INTRINSIC
Pfam:Branch 134 403 1.1e-52 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222094
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele display neutrophilia, increased aggression towards males, reduced serum thyroxine levels, and altered O-glycan structures in the stomach, colon, and small intestine. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts17 T C 7: 66,770,660 (GRCm39) V923A possibly damaging Het
Als2 G A 1: 59,254,541 (GRCm39) A272V probably benign Het
Aoc1l1 A C 6: 48,955,065 (GRCm39) N635T possibly damaging Het
Chrne C T 11: 70,509,983 (GRCm39) probably benign Het
Dhx34 C T 7: 15,933,751 (GRCm39) R947H probably damaging Het
Dnah7b A T 1: 46,253,482 (GRCm39) M1796L probably benign Het
Dstyk C T 1: 132,387,726 (GRCm39) T820I probably damaging Het
Eif4g1 A G 16: 20,502,378 (GRCm39) K942E probably damaging Het
Fbn1 C T 2: 125,200,743 (GRCm39) G1318E probably damaging Het
Galnt5 T C 2: 57,889,144 (GRCm39) V248A probably benign Het
Gdf5 A G 2: 155,783,626 (GRCm39) V442A probably damaging Het
H2-Q4 A C 17: 35,601,834 (GRCm39) D232A probably damaging Het
Hnrnpm C A 17: 33,868,876 (GRCm39) R517L probably damaging Het
Htt A G 5: 35,048,785 (GRCm39) I2423V probably benign Het
Itk T A 11: 46,258,723 (GRCm39) I60F probably damaging Het
Izumo1 T A 7: 45,272,295 (GRCm39) C25* probably null Het
Katnip T A 7: 125,442,393 (GRCm39) D767E probably benign Het
Lamc1 G T 1: 153,116,241 (GRCm39) P980H probably damaging Het
Ncor2 C A 5: 125,163,954 (GRCm39) R367L unknown Het
Pcdhb17 A T 18: 37,619,059 (GRCm39) probably null Het
Rnf123 C A 9: 107,944,594 (GRCm39) probably null Het
Sh3bgrl2 T A 9: 83,459,543 (GRCm39) F34I probably damaging Het
Sharpin T C 15: 76,232,424 (GRCm39) E171G probably damaging Het
Slc22a30 A T 19: 8,313,152 (GRCm39) D544E probably benign Het
Slc36a1 T C 11: 55,116,954 (GRCm39) C328R probably damaging Het
Sntg2 T C 12: 30,362,680 (GRCm39) probably benign Het
Sox13 A G 1: 133,314,844 (GRCm39) V272A probably benign Het
Sppl2b T G 10: 80,699,928 (GRCm39) L37R probably damaging Het
Strip1 T A 3: 107,528,761 (GRCm39) S390C probably damaging Het
Stxbp5 T A 10: 9,684,346 (GRCm39) probably benign Het
Supt16 T C 14: 52,399,255 (GRCm39) E1008G possibly damaging Het
Vmn1r174 C A 7: 23,453,911 (GRCm39) H192Q possibly damaging Het
Vsir C T 10: 60,200,063 (GRCm39) Q154* probably null Het
Xrn2 A T 2: 146,870,066 (GRCm39) R252* probably null Het
Other mutations in Gcnt4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02677:Gcnt4 APN 13 97,083,741 (GRCm39) missense probably benign
IGL02936:Gcnt4 APN 13 97,082,919 (GRCm39) missense probably benign 0.00
R0332:Gcnt4 UTSW 13 97,083,018 (GRCm39) missense probably benign 0.01
R0741:Gcnt4 UTSW 13 97,082,940 (GRCm39) nonsense probably null
R0853:Gcnt4 UTSW 13 97,083,343 (GRCm39) missense probably damaging 1.00
R2156:Gcnt4 UTSW 13 97,082,974 (GRCm39) missense probably damaging 0.99
R3837:Gcnt4 UTSW 13 97,083,522 (GRCm39) nonsense probably null
R3838:Gcnt4 UTSW 13 97,083,522 (GRCm39) nonsense probably null
R3839:Gcnt4 UTSW 13 97,083,522 (GRCm39) nonsense probably null
R4434:Gcnt4 UTSW 13 97,082,850 (GRCm39) missense probably benign 0.00
R4611:Gcnt4 UTSW 13 97,082,990 (GRCm39) missense probably benign
R4782:Gcnt4 UTSW 13 97,083,914 (GRCm39) missense possibly damaging 0.88
R5853:Gcnt4 UTSW 13 97,083,160 (GRCm39) missense probably benign 0.01
R6013:Gcnt4 UTSW 13 97,083,786 (GRCm39) missense possibly damaging 0.95
R6139:Gcnt4 UTSW 13 97,083,360 (GRCm39) missense probably benign 0.16
R6329:Gcnt4 UTSW 13 97,083,781 (GRCm39) missense probably damaging 1.00
R7131:Gcnt4 UTSW 13 97,083,027 (GRCm39) missense probably damaging 0.98
R7217:Gcnt4 UTSW 13 97,082,818 (GRCm39) missense probably damaging 0.98
R7497:Gcnt4 UTSW 13 97,083,468 (GRCm39) missense possibly damaging 0.52
R7509:Gcnt4 UTSW 13 97,083,678 (GRCm39) missense probably benign 0.28
R7592:Gcnt4 UTSW 13 97,083,669 (GRCm39) missense probably benign 0.02
R8673:Gcnt4 UTSW 13 97,082,997 (GRCm39) missense probably benign 0.24
R8907:Gcnt4 UTSW 13 97,083,844 (GRCm39) missense probably damaging 1.00
R9036:Gcnt4 UTSW 13 97,083,042 (GRCm39) missense probably benign
R9371:Gcnt4 UTSW 13 97,083,634 (GRCm39) missense possibly damaging 0.88
R9464:Gcnt4 UTSW 13 97,083,493 (GRCm39) missense probably benign 0.00
R9780:Gcnt4 UTSW 13 97,083,948 (GRCm39) missense probably benign 0.17
R9789:Gcnt4 UTSW 13 97,083,429 (GRCm39) missense probably benign 0.00
Z1177:Gcnt4 UTSW 13 97,082,961 (GRCm39) missense probably damaging 0.98
Posted On 2013-04-17