Incidental Mutation 'R6139:Gcnt4'
ID 488502
Institutional Source Beutler Lab
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
MMRRC Submission 044286-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.099) question?
Stock # R6139 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 97061197-97087414 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 97083360 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 219 (V219I)
Ref Sequence ENSEMBL: ENSMUSP00000130496 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000171324]
AlphaFold E9Q649
Predicted Effect probably benign
Transcript: ENSMUST00000171324
AA Change: V219I

PolyPhen 2 Score 0.158 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000130496
Gene: ENSMUSG00000091387
AA Change: V219I

DomainStartEndE-ValueType
transmembrane domain 17 39 N/A INTRINSIC
Pfam:Branch 134 403 1.1e-52 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222094
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.7%
Validation Efficiency 100% (50/50)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6030468B19Rik A G 11: 117,697,150 (GRCm39) T250A probably damaging Het
Acacb T C 5: 114,350,713 (GRCm39) I1074T probably damaging Het
Acsl6 C A 11: 54,231,368 (GRCm39) P462T probably damaging Het
Aebp1 A G 11: 5,821,842 (GRCm39) D747G probably damaging Het
Antxr2 A C 5: 98,125,565 (GRCm39) probably null Het
Arhgap35 T C 7: 16,297,392 (GRCm39) T558A possibly damaging Het
Asap1 T A 15: 64,038,388 (GRCm39) I223F possibly damaging Het
C2cd5 A C 6: 142,980,784 (GRCm39) D669E probably damaging Het
Casz1 C T 4: 149,036,154 (GRCm39) T1472M probably damaging Het
Catsper4 A G 4: 133,945,177 (GRCm39) L154P probably damaging Het
Cep350 T C 1: 155,829,025 (GRCm39) E293G probably benign Het
Cma1 T A 14: 56,180,157 (GRCm39) probably null Het
Ddx42 C T 11: 106,130,843 (GRCm39) A439V probably damaging Het
Disp2 T A 2: 118,621,143 (GRCm39) L625Q probably damaging Het
Dnah1 T C 14: 31,007,984 (GRCm39) D2141G probably benign Het
Dsp T C 13: 38,376,382 (GRCm39) I1389T probably damaging Het
Fam81a A T 9: 70,010,100 (GRCm39) probably null Het
Fsip2 A G 2: 82,821,388 (GRCm39) D5707G possibly damaging Het
Gk2 A G 5: 97,604,139 (GRCm39) V233A probably benign Het
Grm1 T C 10: 10,622,075 (GRCm39) probably benign Het
Gsap T A 5: 21,486,538 (GRCm39) V649D probably damaging Het
Kif1b G A 4: 149,321,989 (GRCm39) H977Y possibly damaging Het
Ktn1 T A 14: 47,963,672 (GRCm39) probably null Het
Lgals12 T A 19: 7,581,742 (GRCm39) T29S probably benign Het
Me3 G T 7: 89,282,108 (GRCm39) probably benign Het
Mgst3 T G 1: 167,205,874 (GRCm39) K35T possibly damaging Het
Mtmr9 T C 14: 63,767,227 (GRCm39) R354G probably benign Het
Myh11 T C 16: 14,033,738 (GRCm39) E1059G probably damaging Het
Nr4a2 T A 2: 56,998,701 (GRCm39) H408L probably damaging Het
Or56b35 A T 7: 104,963,453 (GRCm39) T81S probably damaging Het
Or5ak23 A T 2: 85,244,690 (GRCm39) F178I probably damaging Het
Pds5b T A 5: 150,724,242 (GRCm39) L1275Q possibly damaging Het
Pfkfb4 A G 9: 108,856,825 (GRCm39) Y412C probably damaging Het
Pop1 T A 15: 34,529,204 (GRCm39) C745S probably benign Het
Ptpn14 T G 1: 189,583,362 (GRCm39) S736R probably benign Het
Rdh9 A T 10: 127,612,606 (GRCm39) T85S possibly damaging Het
Rnf223 T C 4: 156,217,260 (GRCm39) C212R probably damaging Het
Rnf39 A G 17: 37,254,230 (GRCm39) E84G probably damaging Het
Sfmbt1 T A 14: 30,533,375 (GRCm39) V584D probably damaging Het
Slc12a5 T A 2: 164,834,231 (GRCm39) S728T probably damaging Het
Slc16a12 T A 19: 34,648,295 (GRCm39) probably null Het
Snupn C A 9: 56,890,108 (GRCm39) Q310K possibly damaging Het
St7 T C 6: 17,694,353 (GRCm39) L48P probably damaging Het
Thsd7a T C 6: 12,379,572 (GRCm39) N951D possibly damaging Het
Ttn G A 2: 76,682,413 (GRCm39) R959* probably null Het
Ugt2b36 A T 5: 87,240,030 (GRCm39) D118E probably benign Het
Vmn2r7 G A 3: 64,623,339 (GRCm39) T327I probably damaging Het
Wdr70 T C 15: 8,108,735 (GRCm39) D137G probably benign Het
Wrn A T 8: 33,843,360 (GRCm39) M14K probably damaging Het
Xpot T A 10: 121,447,613 (GRCm39) E283V probably benign Het
Other mutations in Gcnt4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00950:Gcnt4 APN 13 97,083,064 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- AAAGATGCCATTATGGTTGAGCG -3'
(R):5'- CACCTGTCTGAGCTCATGATG -3'

Sequencing Primer
(F):5'- GGTTGATCCGAGCTATTTACAACCAG -3'
(R):5'- CATGATGGTAGGTGAACCTCTCC -3'
Posted On 2017-10-10