Incidental Mutation 'IGL01149:B3galnt2'
ID52620
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol B3galnt2
Ensembl Gene ENSMUSG00000039242
Gene NameUDP-GalNAc:betaGlcNAc beta 1,3-galactosaminyltransferase, polypeptide 2
SynonymsD230016N13Rik, A930105D20Rik
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.690) question?
Stock #IGL01149
Quality Score
Status
Chromosome13
Chromosomal Location13954469-13999103 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 13980685 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 216 (I216F)
Ref Sequence ENSEMBL: ENSMUSP00000152397 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099747] [ENSMUST00000221300] [ENSMUST00000221974] [ENSMUST00000222110] [ENSMUST00000223483]
Predicted Effect probably benign
Transcript: ENSMUST00000099747
AA Change: I216F

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000097336
Gene: ENSMUSG00000039242
AA Change: I216F

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
Pfam:Galactosyl_T 300 460 2.9e-26 PFAM
low complexity region 481 492 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000221300
AA Change: I216F

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)
Predicted Effect probably benign
Transcript: ENSMUST00000221333
Predicted Effect probably benign
Transcript: ENSMUST00000221974
AA Change: I216F

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)
Predicted Effect probably benign
Transcript: ENSMUST00000222110
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223307
Predicted Effect probably benign
Transcript: ENSMUST00000223483
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 glycosyltransferase 31 family. The encoded protein synthesizes GalNAc:beta-1,3GlcNAc, a novel carbohydrate structure, on N- and O-glycans. Alternatively spliced transcript variants that encode different isoforms have been described. [provided by RefSeq, Mar 2013]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4632415L05Rik A G 3: 19,895,112 noncoding transcript Het
Adcy1 A C 11: 7,137,385 N420H probably damaging Het
Avp T C 2: 130,580,673 probably benign Het
Cdc42bpa T C 1: 180,074,572 S465P probably damaging Het
Cdc42bpg T A 19: 6,312,205 probably benign Het
Cdcp2 T C 4: 107,107,111 F386S probably benign Het
Cdh4 A G 2: 179,874,144 T372A probably damaging Het
Clspn T G 4: 126,573,178 M612R probably damaging Het
Dll4 T C 2: 119,331,109 C391R probably damaging Het
Dll4 T C 2: 119,332,745 Y616H probably damaging Het
Exoc1 A G 5: 76,542,244 probably benign Het
F830045P16Rik A G 2: 129,460,312 probably null Het
Fhod1 A G 8: 105,347,807 probably benign Het
Fign T C 2: 63,979,760 R389G possibly damaging Het
Gm13941 T A 2: 111,101,137 E50V unknown Het
Gm436 T C 4: 144,673,779 D143G probably benign Het
Kit C T 5: 75,610,876 T231M probably damaging Het
Neu3 T C 7: 99,813,880 H212R probably benign Het
Nup214 G T 2: 32,034,700 S1747I probably damaging Het
Olfr1289 T C 2: 111,484,101 S224P probably damaging Het
Olfr735 G T 14: 50,345,614 A276E probably damaging Het
Olfr870 G T 9: 20,171,530 L14I probably damaging Het
Secisbp2 T C 13: 51,676,455 probably null Het
Slc26a10 G A 10: 127,174,177 probably benign Het
Slc7a6 T C 8: 106,179,600 S155P probably damaging Het
Slf1 A T 13: 77,112,648 I173N probably damaging Het
Tedc1 C T 12: 113,163,188 R357* probably null Het
Tkfc A G 19: 10,600,651 L38P probably damaging Het
Tubgcp4 A G 2: 121,184,783 D324G probably null Het
Zfyve16 T C 13: 92,508,283 H1137R probably damaging Het
Other mutations in B3galnt2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00227:B3galnt2 APN 13 13987431 missense probably benign 0.15
IGL01814:B3galnt2 APN 13 13987353 missense probably damaging 1.00
IGL02383:B3galnt2 APN 13 13997033 makesense probably null
R0106:B3galnt2 UTSW 13 13995793 missense probably benign
R0349:B3galnt2 UTSW 13 13991474 missense probably benign
R0676:B3galnt2 UTSW 13 13995793 missense probably benign
R1522:B3galnt2 UTSW 13 13970769 missense probably damaging 1.00
R1830:B3galnt2 UTSW 13 13991534 nonsense probably null
R2035:B3galnt2 UTSW 13 13966324 missense probably benign 0.10
R3686:B3galnt2 UTSW 13 13975635 critical splice donor site probably null
R3954:B3galnt2 UTSW 13 13966454 missense probably benign 0.04
R5369:B3galnt2 UTSW 13 13994425 unclassified probably null
R5435:B3galnt2 UTSW 13 13996990 missense probably benign 0.01
R5564:B3galnt2 UTSW 13 13995229 missense probably damaging 1.00
R5628:B3galnt2 UTSW 13 13995152 unclassified probably null
R6118:B3galnt2 UTSW 13 13991509 missense probably damaging 0.96
R6396:B3galnt2 UTSW 13 13995748 missense probably damaging 1.00
R6529:B3galnt2 UTSW 13 13995792 missense probably benign 0.00
R6656:B3galnt2 UTSW 13 13975576 missense probably benign 0.00
Posted On2013-06-21