Incidental Mutation 'IGL01061:B3gnt2'
ID52187
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol B3gnt2
Ensembl Gene ENSMUSG00000051650
Gene NameUDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2
SynonymsB3gnt1, B3Galt6
Accession Numbers

Ncbi RefSeq: NM_016888.5, NM_001169114.1; MGI: 1889505

Is this an essential gene? Probably essential (E-score: 0.949) question?
Stock #IGL01061
Quality Score
Status
Chromosome11
Chromosomal Location22759738-22860961 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 22836042 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Valine at position 382 (E382V)
Ref Sequence ENSEMBL: ENSMUSP00000060247 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055549] [ENSMUST00000062844] [ENSMUST00000160826] [ENSMUST00000173660]
Predicted Effect probably damaging
Transcript: ENSMUST00000055549
AA Change: E382V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000053528
Gene: ENSMUSG00000051650
AA Change: E382V

DomainStartEndE-ValueType
Pfam:Galactosyl_T 156 351 2.9e-43 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000062844
AA Change: E382V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000060247
Gene: ENSMUSG00000051650
AA Change: E382V

DomainStartEndE-ValueType
Pfam:Galactosyl_T 156 351 2.9e-43 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000160826
SMART Domains Protein: ENSMUSP00000125609
Gene: ENSMUSG00000098650

DomainStartEndE-ValueType
Pfam:HCaRG 1 99 1.3e-36 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000173660
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174690
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189990
Coding Region Coverage
Validation Efficiency
MGI Phenotype Strain: 3576265; 3529146; 3604461
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the beta-1,3-N-acetylglucosaminyltransferase family. This enzyme is a type II transmembrane protein. It prefers the substrate of lacto-N-neotetraose, and is involved in the biosynthesis of poly-N-acetyllactosamine chains. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jan 2016]
PHENOTYPE: Homozygotes for a gene trap allele show severe axon guidance errors and specific loss of olfactory sensory neurons and glomeruli. Homozygotes for another gene trap allele show hyperactive lymphocytes and macrophages. Homozygotes for a reporter allele display behavioral despair and reduced anxiety. [provided by MGI curators]
Allele List at MGI

All alleles(5) : Targeted(3) Gene trapped(2)

Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aen G A 7: 78,907,302 M299I probably damaging Het
Ankfy1 T A 11: 72,728,860 C186* probably null Het
Ankmy1 A T 1: 92,870,974 probably benign Het
Carmil3 T G 14: 55,498,630 S610A possibly damaging Het
Cfap70 T C 14: 20,447,625 probably benign Het
Chek1 G A 9: 36,714,519 R277C possibly damaging Het
Cpb1 T A 3: 20,266,516 I92L probably benign Het
Ddx56 C T 11: 6,264,671 probably null Het
Dicer1 A T 12: 104,706,327 M887K probably null Het
Dnajc18 A G 18: 35,680,942 probably benign Het
Dock2 A G 11: 34,705,826 V401A probably damaging Het
Dock4 A C 12: 40,702,969 N434T probably benign Het
Ehbp1l1 A T 19: 5,717,888 M1129K probably benign Het
Fam83a A T 15: 57,986,375 Y105F possibly damaging Het
Fnbp1 C A 2: 31,083,042 D70Y probably damaging Het
Gtf3c2 A G 5: 31,168,354 F414L possibly damaging Het
Kdelc2 A G 9: 53,388,587 probably benign Het
Kndc1 A T 7: 139,922,694 E965D probably benign Het
Lrrc66 T C 5: 73,615,499 K209E probably benign Het
Mcm3 A T 1: 20,814,496 I261N possibly damaging Het
Mier3 T A 13: 111,714,436 probably benign Het
Muc6 T C 7: 141,648,454 E669G probably damaging Het
Myh1 T A 11: 67,217,862 M1368K probably benign Het
Nav1 A G 1: 135,450,630 I1653T probably damaging Het
Nuak1 C A 10: 84,375,134 L363F probably damaging Het
Olfr113 A G 17: 37,574,904 I173T possibly damaging Het
Olfr1502 T C 19: 13,862,705 V304A possibly damaging Het
Olfr690 A G 7: 105,329,382 I270T possibly damaging Het
Pkd1l3 A G 8: 109,638,706 H1153R probably damaging Het
Ppp6r2 A T 15: 89,286,015 probably benign Het
Prelid3b T C 2: 174,465,821 probably null Het
Prrt3 T C 6: 113,497,770 K164E possibly damaging Het
Rab22a T A 2: 173,688,210 D60E probably damaging Het
Rab32 A G 10: 10,557,874 L72P probably damaging Het
Samm50 A G 15: 84,202,254 T225A probably benign Het
Snx27 T A 3: 94,528,980 probably benign Het
Taf7 G A 18: 37,643,433 T27M probably damaging Het
Tgm5 A T 2: 121,071,496 C231S probably benign Het
Tll1 A G 8: 64,038,454 probably null Het
Tmem150a A G 6: 72,357,118 D61G probably damaging Het
Ttll8 G A 15: 88,917,250 R412C possibly damaging Het
Ubr3 T A 2: 69,983,225 D1293E probably benign Het
Utp20 T C 10: 88,770,704 N1669D probably benign Het
Vmn2r28 A G 7: 5,488,184 W355R probably damaging Het
Wdr60 C A 12: 116,229,704 A543S probably benign Het
Yars2 C T 16: 16,306,542 R338* probably null Het
Zfhx2 T A 14: 55,073,882 N452Y possibly damaging Het
Zfp180 T G 7: 24,104,745 D196E possibly damaging Het
Other mutations in B3gnt2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00094:B3gnt2 APN 11 22836151 missense probably benign 0.34
IGL01123:B3gnt2 APN 11 22836490 missense probably benign 0.01
IGL01455:B3gnt2 APN 11 22837042 missense probably damaging 1.00
R0094:B3gnt2 UTSW 11 22836655 missense probably damaging 0.99
R0309:B3gnt2 UTSW 11 22836860 missense probably damaging 0.98
R0747:B3gnt2 UTSW 11 22836316 missense possibly damaging 0.95
R1163:B3gnt2 UTSW 11 22836558 missense probably benign 0.02
R2016:B3gnt2 UTSW 11 22836621 missense probably damaging 1.00
R2017:B3gnt2 UTSW 11 22836621 missense probably damaging 1.00
R2066:B3gnt2 UTSW 11 22836735 missense probably damaging 1.00
R2090:B3gnt2 UTSW 11 22836291 missense probably benign 0.00
R3768:B3gnt2 UTSW 11 22836765 missense probably damaging 0.98
R4604:B3gnt2 UTSW 11 22836426 frame shift probably null
R4680:B3gnt2 UTSW 11 22837105 missense probably damaging 1.00
R5623:B3gnt2 UTSW 11 22837018 missense probably damaging 0.97
R6589:B3gnt2 UTSW 11 22837117 missense probably damaging 1.00
R6731:B3gnt2 UTSW 11 22836888 nonsense probably null
R7391:B3gnt2 UTSW 11 22836482 nonsense probably null
Posted On2013-06-21