Incidental Mutation 'IGL01123:B3gnt2'
ID 52341
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol B3gnt2
Ensembl Gene ENSMUSG00000051650
Gene Name UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2
Synonyms B3gnt1, B3Galt6
Accession Numbers
Essential gene? Probably essential (E-score: 0.950) question?
Stock # IGL01123
Quality Score
Status
Chromosome 11
Chromosomal Location 22784739-22810336 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 22786490 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q9Z222
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 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: 28,849,934 (GRCm39) D167E probably damaging Het
Aadat A T 8: 60,979,648 (GRCm39) E170V probably benign Het
Acsf2 T C 11: 94,461,276 (GRCm39) E300G probably benign Het
Agbl3 C T 6: 34,823,911 (GRCm39) Q859* probably null Het
Arhgap11a T C 2: 113,665,118 (GRCm39) probably benign Het
Arhgef40 C A 14: 52,231,803 (GRCm39) Q730K probably damaging Het
Armc3 C T 2: 19,206,616 (GRCm39) P13L possibly damaging Het
Bnc1 G A 7: 81,623,455 (GRCm39) Q591* probably null Het
Bsn A T 9: 107,993,185 (GRCm39) F856I probably damaging Het
CK137956 T A 4: 127,829,643 (GRCm39) T558S probably benign Het
Coq8b G A 7: 26,939,509 (GRCm39) V180I probably damaging Het
Csmd1 A T 8: 17,584,944 (GRCm39) L16Q possibly damaging Het
Dhx37 A G 5: 125,496,152 (GRCm39) S769P possibly damaging Het
Diras1 T A 10: 80,858,249 (GRCm39) M1L probably damaging Het
Fam161b A G 12: 84,404,438 (GRCm39) W81R probably benign Het
Fat4 A T 3: 39,011,418 (GRCm39) I2173L probably benign Het
Fbn2 T C 18: 58,237,153 (GRCm39) T617A possibly damaging Het
Gabrq G A X: 71,880,439 (GRCm39) D311N probably benign Het
Isl2 G T 9: 55,452,746 (GRCm39) G335C probably damaging Het
Kbtbd7 T C 14: 79,666,052 (GRCm39) V628A probably damaging Het
Kmt2d T C 15: 98,735,029 (GRCm39) M5378V unknown Het
Lrrc23 G T 6: 124,755,782 (GRCm39) D75E probably benign Het
Mab21l3 G A 3: 101,742,446 (GRCm39) T38M probably benign Het
Matn1 T C 4: 130,677,322 (GRCm39) I177T possibly damaging Het
Mtor T C 4: 148,537,494 (GRCm39) S60P probably benign Het
Naip6 T C 13: 100,440,946 (GRCm39) E278G probably benign Het
Nsun6 T C 2: 15,053,789 (GRCm39) I7V possibly damaging Het
Pabpc6 A T 17: 9,887,076 (GRCm39) S492T probably benign Het
Pakap C T 4: 57,757,627 (GRCm39) Q188* probably null Het
Pom121 A T 5: 135,420,560 (GRCm39) V287D unknown Het
Ptprq A T 10: 107,522,079 (GRCm39) F624Y probably damaging Het
Ptprr A G 10: 116,024,222 (GRCm39) T178A probably benign Het
Pygm A G 19: 6,441,424 (GRCm39) N473S probably benign Het
Ros1 A T 10: 51,996,905 (GRCm39) Y1256N probably damaging Het
Scpep1 T C 11: 88,832,154 (GRCm39) N192S possibly damaging Het
Serpina1f A G 12: 103,660,265 (GRCm39) S6P possibly damaging Het
Sgca T A 11: 94,863,113 (GRCm39) Q80L probably damaging Het
Skint6 A G 4: 112,661,879 (GRCm39) L1235P possibly damaging Het
Slc23a2 A C 2: 131,898,736 (GRCm39) N600K probably benign Het
Spata20 T C 11: 94,374,221 (GRCm39) T350A probably benign Het
Syne1 G T 10: 5,294,921 (GRCm39) Y1227* probably null Het
Unc13c T C 9: 73,840,479 (GRCm39) Y124C probably benign Het
Usp40 G A 1: 87,913,845 (GRCm39) T416I probably benign Het
Vmn1r200 T C 13: 22,579,571 (GRCm39) W116R probably benign Het
Vps4a T C 8: 107,765,851 (GRCm39) probably benign Het
Zfyve16 A G 13: 92,629,030 (GRCm39) V1469A probably damaging Het
Other mutations in B3gnt2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00094:B3gnt2 APN 11 22,786,151 (GRCm39) missense probably benign 0.34
IGL01061:B3gnt2 APN 11 22,786,042 (GRCm39) missense probably damaging 1.00
IGL01455:B3gnt2 APN 11 22,787,042 (GRCm39) missense probably damaging 1.00
R0094:B3gnt2 UTSW 11 22,786,655 (GRCm39) missense probably damaging 0.99
R0309:B3gnt2 UTSW 11 22,786,860 (GRCm39) missense probably damaging 0.98
R0747:B3gnt2 UTSW 11 22,786,316 (GRCm39) missense possibly damaging 0.95
R1163:B3gnt2 UTSW 11 22,786,558 (GRCm39) missense probably benign 0.02
R2016:B3gnt2 UTSW 11 22,786,621 (GRCm39) missense probably damaging 1.00
R2017:B3gnt2 UTSW 11 22,786,621 (GRCm39) missense probably damaging 1.00
R2066:B3gnt2 UTSW 11 22,786,735 (GRCm39) missense probably damaging 1.00
R2090:B3gnt2 UTSW 11 22,786,291 (GRCm39) missense probably benign 0.00
R3768:B3gnt2 UTSW 11 22,786,765 (GRCm39) missense probably damaging 0.98
R4604:B3gnt2 UTSW 11 22,786,426 (GRCm39) frame shift probably null
R4680:B3gnt2 UTSW 11 22,787,105 (GRCm39) missense probably damaging 1.00
R5623:B3gnt2 UTSW 11 22,787,018 (GRCm39) missense probably damaging 0.97
R6589:B3gnt2 UTSW 11 22,787,117 (GRCm39) missense probably damaging 1.00
R6731:B3gnt2 UTSW 11 22,786,888 (GRCm39) nonsense probably null
R7391:B3gnt2 UTSW 11 22,786,482 (GRCm39) nonsense probably null
R7970:B3gnt2 UTSW 11 22,786,255 (GRCm39) missense probably damaging 1.00
R8183:B3gnt2 UTSW 11 22,786,373 (GRCm39) missense probably benign 0.19
R8801:B3gnt2 UTSW 11 22,787,002 (GRCm39) missense probably damaging 0.98
Posted On 2013-06-21