Incidental Mutation 'IGL01123:B3gnt2'
ID52341
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: 0.956) question?
Stock #IGL01123
Quality Score
Status
Chromosome11
Chromosomal Location22759738-22860961 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 22836490 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Serine at position 233 (T233S)
Ref Sequence ENSEMBL: ENSMUSP00000060247 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055549] [ENSMUST00000062844] [ENSMUST00000160826] [ENSMUST00000173660]
Predicted Effect probably benign
Transcript: ENSMUST00000055549
AA Change: T233S

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000053528
Gene: ENSMUSG00000051650
AA Change: T233S

DomainStartEndE-ValueType
Pfam:Galactosyl_T 156 351 2.9e-43 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000062844
AA Change: T233S

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000060247
Gene: ENSMUSG00000051650
AA Change: T233S

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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057J18Rik G T 10: 28,973,938 D167E probably damaging Het
Aadat A T 8: 60,526,614 E170V probably benign Het
Acsf2 T C 11: 94,570,450 E300G probably benign Het
Agbl3 C T 6: 34,846,976 Q859* probably null Het
Arhgap11a T C 2: 113,834,773 probably benign Het
Arhgef40 C A 14: 51,994,346 Q730K probably damaging Het
Armc3 C T 2: 19,201,805 P13L possibly damaging Het
Bnc1 G A 7: 81,973,707 Q591* probably null Het
Bsn A T 9: 108,115,986 F856I probably damaging Het
CK137956 T A 4: 127,935,850 T558S probably benign Het
Coq8b G A 7: 27,240,084 V180I probably damaging Het
Csmd1 A T 8: 17,534,928 L16Q possibly damaging Het
Dhx37 A G 5: 125,419,088 S769P possibly damaging Het
Diras1 T A 10: 81,022,415 M1L probably damaging Het
Fam161b A G 12: 84,357,664 W81R probably benign Het
Fat4 A T 3: 38,957,269 I2173L probably benign Het
Fbn2 T C 18: 58,104,081 T617A possibly damaging Het
Gabrq G A X: 72,836,833 D311N probably benign Het
Isl2 G T 9: 55,545,462 G335C probably damaging Het
Kbtbd7 T C 14: 79,428,612 V628A probably damaging Het
Kmt2d T C 15: 98,837,148 M5378V unknown Het
Lrrc23 G T 6: 124,778,819 D75E probably benign Het
Mab21l3 G A 3: 101,835,130 T38M probably benign Het
Matn1 T C 4: 130,950,011 I177T possibly damaging Het
Mtor T C 4: 148,453,037 S60P probably benign Het
Naip6 T C 13: 100,304,438 E278G probably benign Het
Nsun6 T C 2: 15,048,978 I7V possibly damaging Het
Pabpc6 A T 17: 9,668,147 S492T probably benign Het
Pakap C T 4: 57,757,627 Q188* probably null Het
Pom121 A T 5: 135,391,706 V287D unknown Het
Ptprq A T 10: 107,686,218 F624Y probably damaging Het
Ptprr A G 10: 116,188,317 T178A probably benign Het
Pygm A G 19: 6,391,394 N473S probably benign Het
Ros1 A T 10: 52,120,809 Y1256N probably damaging Het
Scpep1 T C 11: 88,941,328 N192S possibly damaging Het
Serpina1f A G 12: 103,694,006 S6P possibly damaging Het
Sgca T A 11: 94,972,287 Q80L probably damaging Het
Skint6 A G 4: 112,804,682 L1235P possibly damaging Het
Slc23a2 A C 2: 132,056,816 N600K probably benign Het
Spata20 T C 11: 94,483,395 T350A probably benign Het
Syne1 G T 10: 5,344,921 Y1227* probably null Het
Unc13c T C 9: 73,933,197 Y124C probably benign Het
Usp40 G A 1: 87,986,123 T416I probably benign Het
Vmn1r200 T C 13: 22,395,401 W116R probably benign Het
Vps4a T C 8: 107,039,219 probably benign Het
Zfyve16 A G 13: 92,492,522 V1469A probably damaging Het
Other mutations in B3gnt2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00094:B3gnt2 APN 11 22836151 missense probably benign 0.34
IGL01061:B3gnt2 APN 11 22836042 missense probably damaging 1.00
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